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    SNX14 sorting nexin 14 [ Homo sapiens (human) ]

    Gene ID: 57231, updated on 7-Apr-2024

    Summary

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    Official Symbol
    SNX14provided by HGNC
    Official Full Name
    sorting nexin 14provided by HGNC
    Primary source
    HGNC:HGNC:14977
    See related
    Ensembl:ENSG00000135317 MIM:616105; AllianceGenome:HGNC:14977
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCAR20; RGS-PX2
    Summary
    This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
    Expression
    Ubiquitous expression in testis (RPKM 30.0), thyroid (RPKM 16.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SNX14 in Genome Data Viewer
    Location:
    6q14.3
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (85505496..85593858, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (86722300..86810666, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (86215214..86303576, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene TPT1 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24787 Neighboring gene 5'-nucleotidase ecto Neighboring gene ReSE screen-validated silencer GRCh37_chr6:86210956-86211197 Neighboring gene Sharpr-MPRA regulatory region 13581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:86263391-86263890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:86262889-86263390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:86302067-86302652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:86302653-86303236 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:86303237-86303820 Neighboring gene synaptotagmin binding cytoplasmic RNA interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17370 Neighboring gene pyruvate kinase M1/2 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cerebellar ataxia disease-associated Snx14 promotes lipid droplet growth at ER-droplet contacts. Datta S, et al. J Cell Biol, 2019 Apr 1. PMID 30765438, Free PMC Article
    2. SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20. Bryant D, et al. Hum Mol Genet, 2018 Jun 1. PMID 29635513, Free PMC Article
    3. Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature. Shukla A, et al. Eur J Med Genet, 2017 Feb. PMID 27913285, Free PMC Article
    4. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. Thomas AC, et al. Am J Hum Genet, 2014 Nov 6. PMID 25439728, Free PMC Article
    5. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Akizu N, et al. Nat Genet, 2015 May. PMID 25848753, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The circSNX14 functions as a tumor suppressor via the miR-562/ LATS2 pathway in hepatocellular carcinoma cells.
      Title: The circSNX14 functions as a tumor suppressor via the miR-562/ LATS2 pathway in hepatocellular carcinoma cells.
    2. Snx14, an endoplasmic reticulum-resident protein associated with the cerebellar ataxia SCAR20, localizes to ER-LD contacts following fatty acid treatment, where it promotes lipid droplet maturation.
      Title: Cerebellar ataxia disease-associated Snx14 promotes lipid droplet growth at ER-droplet contacts.
    3. We therefore identify an important role for SNX14 in neutral lipid homeostasis between the endoplasmic reticulum , lysosomes and lipid droplets that may provide an early intervention target to alleviate the clinical symptoms of autosomal recessive cerebellar ataxia 20 (SCAR20).
      Title: SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
    4. Here we report on a child with a novel missense mutation in the SNX14 gene that appears to be debilitating for protein conformation, function and review the previously reported cases from 15 families
      Title: Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature.
    5. A unique ataxia syndrome due to biallelic SNX14 mutations leading to lysosome-autophagosome dysfunction.
      Title: Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
    6. SNX19 and SNX14 PX domains reveal key differences in spatial control of RGS-PX proteins in cell signaling and trafficking.
      Title: Structural basis for different phosphoinositide specificities of the PX domains of sorting nexins regulating G-protein signaling.
    7. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
      Title: Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal recessive spinocerebellar ataxia 20
    MedGen: C5190595 OMIM: 616354 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC13217

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in autophagosome maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in autophagosome maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in postsynaptic modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in late endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sorting nexin-14

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047171.1 RefSeqGene

      Range
      5299..93661
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001297614.3 → NP_001284543.1  sorting nexin-14 isoform c

      See identical proteins and their annotated locations for NP_001284543.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame segment of the coding region compared to variant 1. It encodes a shorter isoform (c), compared to isoform a.
      Source sequence(s)
      BC005110, BC046520, CB054302, DA491624
      Consensus CDS
      CCDS75490.1
      UniProtKB/TrEMBL
      D6RJG9
      Related
      ENSP00000358641.2, ENST00000369627.6
      Conserved Domains (4) summary
      cd06877
      Location:555 → 677
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:340 → 466
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:130 → 299
      PXA; PXA domain
      pfam08628
      Location:798 → 902
      Nexin_C; Sorting nexin C terminal

    2. NM_001304479.2 → NP_001291408.1  sorting nexin-14 isoform d

      See identical proteins and their annotated locations for NP_001291408.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AK295417, CB054302
      Consensus CDS
      CCDS78163.1
      UniProtKB/TrEMBL
      D6RJG9
      Related
      ENSP00000427380.1, ENST00000505648.5
      Conserved Domains (4) summary
      cd06877
      Location:512 → 634
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:288 → 414
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:78 → 247
      PXA; PXA domain
      pfam08628
      Location:755 → 859
      Nexin_C; Sorting nexin C terminal

    3. NM_001350532.2 → NP_001337461.1  sorting nexin-14 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) encodes the longest isoform (e).
      Source sequence(s)
      AL136082, AL589666
      Consensus CDS
      CCDS93964.1
      UniProtKB/TrEMBL
      A0A804HKZ1, D6RJG9
      Related
      ENSP00000508127.1, ENST00000684570.1
      Conserved Domains (4) summary
      cd06877
      Location:585 → 707
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:361 → 487
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:151 → 320
      PXA; PXA domain
      pfam08628
      Location:828 → 932
      Nexin_C; Sorting nexin C terminal

    4. NM_001350533.2 → NP_001337462.1  sorting nexin-14 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      Consensus CDS
      CCDS93960.1
      UniProtKB/TrEMBL
      A0A804HIK6, A0A804HKC6, D6RJG9
      Related
      ENSP00000507869.1, ENST00000682497.1
      Conserved Domains (4) summary
      cd06877
      Location:563 → 685
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:339 → 465
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:129 → 298
      PXA; PXA domain
      pfam08628
      Location:806 → 910
      Nexin_C; Sorting nexin C terminal

    5. NM_001350534.2 → NP_001337463.1  sorting nexin-14 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      UniProtKB/TrEMBL
      A0A804HIK6, D6RJG9
      Conserved Domains (4) summary
      cd06877
      Location:554 → 676
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:339 → 465
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:129 → 298
      PXA; PXA domain
      pfam08628
      Location:797 → 901
      Nexin_C; Sorting nexin C terminal

    6. NM_001350535.2 → NP_001337464.1  sorting nexin-14 isoform h

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      Consensus CDS
      CCDS93959.1
      UniProtKB/TrEMBL
      A0A804HKJ3, D6RJG9
      Related
      ENSP00000507950.1, ENST00000684118.1
      Conserved Domains (4) summary
      cd06877
      Location:563 → 685
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:339 → 465
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:129 → 298
      PXA; PXA domain
      pfam08628
      Location:806 → 910
      Nexin_C; Sorting nexin C terminal

    7. NM_001350536.2 → NP_001337465.1  sorting nexin-14 isoform i

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      Consensus CDS
      CCDS93961.1
      UniProtKB/TrEMBL
      A0A804HI47, A0A804HJC6
      Related
      ENSP00000507444.1, ENST00000683643.1
      Conserved Domains (4) summary
      cd06877
      Location:520 → 642
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:296 → 422
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:137 → 255
      PXA; PXA domain
      pfam08628
      Location:763 → 867
      Nexin_C; Sorting nexin C terminal

    8. NM_001350537.2 → NP_001337466.1  sorting nexin-14 isoform j

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      Consensus CDS
      CCDS93958.1
      UniProtKB/TrEMBL
      A0A804HI47, A0A804HIR3
      Related
      ENSP00000507188.1, ENST00000683785.1
      Conserved Domains (4) summary
      cd06877
      Location:519 → 641
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:295 → 421
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:136 → 254
      PXA; PXA domain
      pfam08628
      Location:762 → 866
      Nexin_C; Sorting nexin C terminal

    9. NM_001350538.2 → NP_001337467.1  sorting nexin-14 isoform k

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      UniProtKB/TrEMBL
      D6RJG9
      Conserved Domains (4) summary
      cd06877
      Location:516 → 638
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:292 → 418
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:130 → 251
      PXA; PXA domain
      pfam08628
      Location:759 → 863
      Nexin_C; Sorting nexin C terminal

    10. NM_001350539.2 → NP_001337468.1  sorting nexin-14 isoform l

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      Consensus CDS
      CCDS93956.1
      UniProtKB/TrEMBL
      A0A804HIK6, A0A804HJ91, D6RJG9
      Related
      ENSP00000508327.1, ENST00000682171.1
      Conserved Domains (4) summary
      cd06877
      Location:511 → 633
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:287 → 413
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:77 → 246
      PXA; PXA domain
      pfam08628
      Location:754 → 858
      Nexin_C; Sorting nexin C terminal

    11. NM_001350540.2 → NP_001337469.1  sorting nexin-14 isoform m

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      Consensus CDS
      CCDS93963.1
      UniProtKB/TrEMBL
      A0A804HJK3, A0A804HK55
      Related
      ENSP00000507777.1, ENST00000682682.1
      Conserved Domains (4) summary
      cd06877
      Location:564 → 686
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:340 → 466
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:130 → 299
      PXA; PXA domain
      pfam08628
      Location:778 → 856
      Nexin_C; Sorting nexin C terminal

    12. NM_001350541.2 → NP_001337470.1  sorting nexin-14 isoform n

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      Consensus CDS
      CCDS93962.1
      UniProtKB/TrEMBL
      A0A804HJK3, A0A804HK22
      Related
      ENSP00000507742.1, ENST00000682738.1
      Conserved Domains (4) summary
      cd06877
      Location:555 → 677
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:340 → 466
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:130 → 299
      PXA; PXA domain
      pfam08628
      Location:769 → 847
      Nexin_C; Sorting nexin C terminal

    13. NM_001350542.2 → NP_001337471.1  sorting nexin-14 isoform o

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      Consensus CDS
      CCDS93957.1
      UniProtKB/TrEMBL
      A0A804HI47, A0A804HIA1
      Related
      ENSP00000506970.1, ENST00000682491.1
      Conserved Domains (4) summary
      cd06877
      Location:468 → 590
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:244 → 370
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:85 → 203
      PXA; PXA domain
      pfam08628
      Location:711 → 815
      Nexin_C; Sorting nexin C terminal

    14. NM_001350543.2 → NP_001337472.1  sorting nexin-14 isoform p

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      Consensus CDS
      CCDS93955.1
      UniProtKB/TrEMBL
      A0A804HI30, A0A804HIK6, D6RJG9
      Related
      ENSP00000506873.1, ENST00000684647.1
      Conserved Domains (4) summary
      cd06877
      Location:467 → 589
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:243 → 369
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:84 → 202
      PXA; PXA domain
      pfam08628
      Location:710 → 814
      Nexin_C; Sorting nexin C terminal

    15. NM_001350544.2 → NP_001337473.1  sorting nexin-14 isoform q

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      UniProtKB/TrEMBL
      D6RJG9
      Conserved Domains (4) summary
      cd06877
      Location:464 → 586
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:240 → 366
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:78 → 199
      PXA; PXA domain
      pfam08628
      Location:707 → 811
      Nexin_C; Sorting nexin C terminal

    16. NM_001350545.2 → NP_001337474.1  sorting nexin-14 isoform r

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18), as well as variant 19, encodes isoform r.
      Source sequence(s)
      AL136082, AL589666
      UniProtKB/TrEMBL
      A0A804HI51
      Conserved Domains (4) summary
      cd06877
      Location:416 → 538
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:192 → 318
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:6 → 151
      PXA; PXA domain
      pfam08628
      Location:659 → 763
      Nexin_C; Sorting nexin C terminal

    17. NM_001350546.2 → NP_001337475.1  sorting nexin-14 isoform r

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19), as well as variant 18, encodes isoform r.
      Source sequence(s)
      AL136082, AL589666
      UniProtKB/TrEMBL
      A0A804HI51
      Conserved Domains (4) summary
      cd06877
      Location:416 → 538
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:192 → 318
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:6 → 151
      PXA; PXA domain
      pfam08628
      Location:659 → 763
      Nexin_C; Sorting nexin C terminal

    18. NM_001350547.2 → NP_001337476.1  sorting nexin-14 isoform s

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      Conserved Domains (3) summary
      cd06877
      Location:214 → 336
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:1 → 116
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam08628
      Location:457 → 561
      Nexin_C; Sorting nexin C terminal

    19. NM_001350548.2 → NP_001337477.1  sorting nexin-14 isoform t

      Status: REVIEWED

      Description
      Transcript Variant: This variant (21), as well as variants 22-25, encodes isoform t.
      Source sequence(s)
      AL136082, AL589666
      Conserved Domains (3) summary
      cd06877
      Location:179 → 301
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      pfam08628
      Location:422 → 526
      Nexin_C; Sorting nexin C terminal
      cl02565
      Location:1 → 81
      RGS; Regulator of G protein signaling (RGS) domain superfamily

    20. NM_001350549.2 → NP_001337478.1  sorting nexin-14 isoform t

      Status: REVIEWED

      Description
      Transcript Variant: This variant (22), as well as variants 21 and 23-25, encodes isoform t.
      Source sequence(s)
      AL136082, AL589666
      Conserved Domains (3) summary
      cd06877
      Location:179 → 301
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      pfam08628
      Location:422 → 526
      Nexin_C; Sorting nexin C terminal
      cl02565
      Location:1 → 81
      RGS; Regulator of G protein signaling (RGS) domain superfamily

    21. NM_001350550.2 → NP_001337479.1  sorting nexin-14 isoform t

      Status: REVIEWED

      Description
      Transcript Variant: This variant (23), as well as variants 21, 22, 24, and 25, encodes isoform t.
      Source sequence(s)
      AL136082, AL589666
      Conserved Domains (3) summary
      cd06877
      Location:179 → 301
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      pfam08628
      Location:422 → 526
      Nexin_C; Sorting nexin C terminal
      cl02565
      Location:1 → 81
      RGS; Regulator of G protein signaling (RGS) domain superfamily

    22. NM_001350551.2 → NP_001337480.1  sorting nexin-14 isoform t

      Status: REVIEWED

      Description
      Transcript Variant: This variant (24), as well as variants 21-23 and 25, encodes isoform t.
      Source sequence(s)
      AL136082, AL589666
      Conserved Domains (3) summary
      cd06877
      Location:179 → 301
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      pfam08628
      Location:422 → 526
      Nexin_C; Sorting nexin C terminal
      cl02565
      Location:1 → 81
      RGS; Regulator of G protein signaling (RGS) domain superfamily

    23. NM_001350552.2 → NP_001337481.1  sorting nexin-14 isoform t

      Status: REVIEWED

      Description
      Transcript Variant: This variant (25), as well as variants 21-24, encodes isoform t.
      Source sequence(s)
      AL136082, AL589666
      Conserved Domains (3) summary
      cd06877
      Location:179 → 301
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      pfam08628
      Location:422 → 526
      Nexin_C; Sorting nexin C terminal
      cl02565
      Location:1 → 81
      RGS; Regulator of G protein signaling (RGS) domain superfamily

    24. NM_001350553.2 → NP_001337482.1  sorting nexin-14 isoform u

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      Conserved Domains (3) summary
      cd06877
      Location:170 → 292
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      pfam08628
      Location:413 → 517
      Nexin_C; Sorting nexin C terminal
      cl02565
      Location:1 → 81
      RGS; Regulator of G protein signaling (RGS) domain superfamily

    25. NM_020468.6 → NP_065201.1  sorting nexin-14 isoform b

      See identical proteins and their annotated locations for NP_065201.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks in-frame segments of the coding region compared to variant 1. It encodes a shorter isoform (b), compared to isoform a.
      Source sequence(s)
      BC005110, CB054302
      Consensus CDS
      CCDS5003.1
      UniProtKB/TrEMBL
      A0A804HI47
      Related
      ENSP00000257769.3, ENST00000346348.7
      Conserved Domains (4) summary
      cd06877
      Location:511 → 633
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:296 → 422
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:137 → 255
      PXA; PXA domain
      pfam08628
      Location:754 → 858
      Nexin_C; Sorting nexin C terminal

    26. NM_153816.6 → NP_722523.1  sorting nexin-14 isoform a

      See identical proteins and their annotated locations for NP_722523.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      BC005110, BC095419, CB054302, DA491624
      Consensus CDS
      CCDS5004.1
      UniProtKB/Swiss-Prot
      B4DI55, Q4VBR3, Q5TCF9, Q5TCG0, Q6NUI7, Q6PI37, Q9BSD1, Q9Y5W7
      UniProtKB/TrEMBL
      D6RJG9
      Related
      ENSP00000313121.3, ENST00000314673.8
      Conserved Domains (4) summary
      cd06877
      Location:564 → 686
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:340 → 466
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:130 → 299
      PXA; PXA domain
      pfam08628
      Location:807 → 911
      Nexin_C; Sorting nexin C terminal

    RNA

    1. NR_146774.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      Related
      ENST00000682633.1

    2. NR_146775.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      Related
      ENST00000684299.1

    3. NR_146776.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      Related
      ENST00000683577.1

    4. NR_146777.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      Related
      ENST00000682688.1

    5. NR_146778.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      Related
      ENST00000684319.1

    6. NR_146779.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136082, AL589666
      Related
      ENST00000682133.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      85505496..85593858 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419128.1 → XP_047275084.1  sorting nexin-14 isoform X10

    2. XM_047419127.1 → XP_047275083.1  sorting nexin-14 isoform X9

    3. XM_047419123.1 → XP_047275079.1  sorting nexin-14 isoform X5

      Related
      ENSP00000507491.1, ENST00000684680.1

    4. XM_047419121.1 → XP_047275077.1  sorting nexin-14 isoform X4

    5. XM_047419120.1 → XP_047275076.1  sorting nexin-14 isoform X2

    6. XM_047419129.1 → XP_047275085.1  sorting nexin-14 isoform X10

    7. XM_047419124.1 → XP_047275080.1  sorting nexin-14 isoform X6

    8. XM_017011090.2 → XP_016866579.1  sorting nexin-14 isoform X3

      UniProtKB/TrEMBL
      A0A804HIK6, A0A804HJ91, D6RJG9
      Related
      ENSP00000507401.1, ENST00000684150.1
      Conserved Domains (4) summary
      cd06877
      Location:511 → 633
      PX_SNX14; The phosphoinositide binding Phox Homology domain of Sorting Nexin 14
      cd08722
      Location:287 → 413
      RGS_SNX14; Regulator of G protein signaling (RGS) domain found in the Sorting Nexin14 (SNX14) protein
      pfam02194
      Location:77 → 246
      PXA; PXA domain
      pfam08628
      Location:754 → 858
      Nexin_C; Sorting nexin C terminal

    9. XM_047419126.1 → XP_047275082.1  sorting nexin-14 isoform X8

      UniProtKB/TrEMBL
      A0A804HIA1

    10. XM_047419122.1 → XP_047275078.1  sorting nexin-14 isoform X5

    11. XM_047419125.1 → XP_047275081.1  sorting nexin-14 isoform X7

      Related
      ENSP00000507625.1, ENST00000682464.1

    12. XM_011535977.3 → XP_011534279.2  sorting nexin-14 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      86722300..86810666 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356027.1 → XP_054212002.1  sorting nexin-14 isoform X10

    2. XM_054356026.1 → XP_054212001.1  sorting nexin-14 isoform X9

    3. XM_054356022.1 → XP_054211997.1  sorting nexin-14 isoform X5

    4. XM_054356020.1 → XP_054211995.1  sorting nexin-14 isoform X4

    5. XM_054356018.1 → XP_054211993.1  sorting nexin-14 isoform X2

    6. XM_054356028.1 → XP_054212003.1  sorting nexin-14 isoform X10

    7. XM_054356023.1 → XP_054211998.1  sorting nexin-14 isoform X6

    8. XM_054356019.1 → XP_054211994.1  sorting nexin-14 isoform X3

    9. XM_054356025.1 → XP_054212000.1  sorting nexin-14 isoform X8

    10. XM_054356021.1 → XP_054211996.1  sorting nexin-14 isoform X5

    11. XM_054356024.1 → XP_054211999.1  sorting nexin-14 isoform X7

    12. XM_054356017.1 → XP_054211992.1  sorting nexin-14 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5W7.3 GenPept UniProtKB/Swiss-Prot:Q9Y5W7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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