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    LRRC27 leucine rich repeat containing 27 [ Homo sapiens (human) ]

    Gene ID: 80313, updated on 3-Apr-2024

    Summary

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    Official Symbol
    LRRC27provided by HGNC
    Official Full Name
    leucine rich repeat containing 27provided by HGNC
    Primary source
    HGNC:HGNC:29346
    See related
    Ensembl:ENSG00000148814 AllianceGenome:HGNC:29346
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Biased expression in testis (RPKM 8.7), brain (RPKM 1.4) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q26.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (132330063..132381508)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (133272696..133327017)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (134145697..134195012)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Janus kinase and microtubule interacting protein 3 Neighboring gene JAKMIP3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134001171-134001672 Neighboring gene dihydropyrimidinase like 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4222 Neighboring gene serine/threonine kinase 32C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134056390-134057274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134067757-134068258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134068259-134068758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134078043-134078543 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134096746-134097345 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:134111356-134111519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134122180-134122724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134122725-134123267 Neighboring gene Sharpr-MPRA regulatory region 5064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4223 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:134144980-134145514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4224 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:134152941-134153095 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134166187-134167149 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134203032-134203711 Neighboring gene uncharacterized LOC124902526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134208622-134209145 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134209146-134209668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2959 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134211239-134211761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134211762-134212284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134214271-134215047 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134218733-134219360 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134221245-134221872 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134221873-134222500 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:134222501-134223127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:134227291-134227958 Neighboring gene PWWP domain containing 2B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Exploring the Novel Susceptibility Gene Variants for Primary Open-Angle Glaucoma in East Asian Cohorts: The GLAU-GENDISK Study. Kim YW, et al. Sci Rep, 2020 Jan 14. PMID 31937794, Free PMC Article
    2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Dec 31. PMID 11214970
    3. Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer-related pathways in breast cancer. Liu Y, et al. Cancer Med, 2019 Feb. PMID 30652415, Free PMC Article
    4. Spindle Assembly Checkpoint Inhibition Can Resensitize p53-Null Stem Cells to Cancer Chemotherapy. Liu C, et al. Cancer Res, 2019 May 1. PMID 30862715, Free PMC Article
    5. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exploring the Novel Susceptibility Gene Variants for Primary Open-Angle Glaucoma in East Asian Cohorts: The GLAU-GENDISK Study.
      Title: Exploring the Novel Susceptibility Gene Variants for Primary Open-Angle Glaucoma in East Asian Cohorts: The GLAU-GENDISK Study.
    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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cardiac muscle cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in sarcomere IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 27
    Names
    testicular tissue protein Li 108

    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.

    mRNA and Protein(s)

    1. NM_001143757.2 → NP_001137229.1  leucine-rich repeat-containing protein 27 isoform a

      See identical proteins and their annotated locations for NP_001137229.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AB051461, AK097418, AL512722, AL590105, DA203895
      Consensus CDS
      CCDS31316.1
      UniProtKB/Swiss-Prot
      A6NE72, A6NJB4, A6NKD3, D3DRH0, Q5SZH6, Q5SZH8, Q5SZH9, Q86XT5, Q8N7C8, Q8NA21, Q9C0I9
      UniProtKB/TrEMBL
      A0A140VJN2, B3KUK5
      Related
      ENSP00000357602.4, ENST00000368613.8
      Conserved Domains (4) summary
      sd00031
      Location:49 → 68
      LRR_1; leucine-rich repeat [structural motif]
      pfam12302
      Location:331 → 471
      DUF3629; Protein of unknown function (DUF3629)
      pfam12799
      Location:67 → 108
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:67 → 126
      LRR_8; Leucine rich repeat

    2. NM_001143758.2 → NP_001137230.1  leucine-rich repeat-containing protein 27 isoform b

      See identical proteins and their annotated locations for NP_001137230.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses a distinct splice pattern in the 3' coding region, compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AL590105, BC050097
      Consensus CDS
      CCDS44495.1
      UniProtKB/Swiss-Prot
      Q9C0I9
      Related
      ENSP00000486582.1, ENST00000625755.2
      Conserved Domains (2) summary
      sd00031
      Location:49 → 68
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:67 → 126
      LRR_8; Leucine rich repeat

    3. NM_001143759.2 → NP_001137231.1  leucine-rich repeat-containing protein 27 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) includes an alternate exon and uses a distinct splice pattern in the 3' coding region, compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AK098652, AL590105, BX117491
      Consensus CDS
      CCDS44496.1
      UniProtKB/Swiss-Prot
      Q9C0I9
      Related
      ENSP00000342641.5, ENST00000344079.9
      Conserved Domains (4) summary
      cd00116
      Location:50 → 150
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00031
      Location:49 → 68
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:67 → 108
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:67 → 126
      LRR_8; Leucine rich repeat

    4. NM_001309474.2 → NP_001296403.1  leucine-rich repeat-containing protein 27 isoform d

      See identical proteins and their annotated locations for NP_001296403.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in both UTRs, uses an in-frame downstream start codon, and includes a novel 3' coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AK301422, BQ775276
      UniProtKB/TrEMBL
      B4DW88
      Conserved Domains (1) summary
      PTZ00121
      Location:205 → 341
      PTZ00121; MAEBL; Provisional

    5. NM_030626.3 → NP_085129.1  leucine-rich repeat-containing protein 27 isoform a

      See identical proteins and their annotated locations for NP_085129.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AB051461, AL512722, AL590105, DA658738
      Consensus CDS
      CCDS31316.1
      UniProtKB/Swiss-Prot
      A6NE72, A6NJB4, A6NKD3, D3DRH0, Q5SZH6, Q5SZH8, Q5SZH9, Q86XT5, Q8N7C8, Q8NA21, Q9C0I9
      UniProtKB/TrEMBL
      A0A140VJN2, B3KUK5
      Related
      ENSP00000357603.3, ENST00000368614.8
      Conserved Domains (4) summary
      sd00031
      Location:49 → 68
      LRR_1; leucine-rich repeat [structural motif]
      pfam12302
      Location:331 → 471
      DUF3629; Protein of unknown function (DUF3629)
      pfam12799
      Location:67 → 108
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:67 → 126
      LRR_8; Leucine rich repeat

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      132330063..132381508
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540208.2 → XP_011538510.1  leucine-rich repeat-containing protein 27 isoform X1

      See identical proteins and their annotated locations for XP_011538510.1

      UniProtKB/Swiss-Prot
      A6NE72, A6NJB4, A6NKD3, D3DRH0, Q5SZH6, Q5SZH8, Q5SZH9, Q86XT5, Q8N7C8, Q8NA21, Q9C0I9
      UniProtKB/TrEMBL
      A0A140VJN2, B3KUK5
      Conserved Domains (4) summary
      sd00031
      Location:49 → 68
      LRR_1; leucine-rich repeat [structural motif]
      pfam12302
      Location:331 → 471
      DUF3629; Protein of unknown function (DUF3629)
      pfam12799
      Location:67 → 108
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:67 → 126
      LRR_8; Leucine rich repeat

    2. XM_047425785.1 → XP_047281741.1  leucine-rich repeat-containing protein 27 isoform X1

      UniProtKB/Swiss-Prot
      A6NE72, A6NJB4, A6NKD3, D3DRH0, Q5SZH6, Q5SZH8, Q5SZH9, Q86XT5, Q8N7C8, Q8NA21, Q9C0I9
      UniProtKB/TrEMBL
      A0A140VJN2

    3. XM_047425786.1 → XP_047281742.1  leucine-rich repeat-containing protein 27 isoform X1

      UniProtKB/Swiss-Prot
      A6NE72, A6NJB4, A6NKD3, D3DRH0, Q5SZH6, Q5SZH8, Q5SZH9, Q86XT5, Q8N7C8, Q8NA21, Q9C0I9
      UniProtKB/TrEMBL
      A0A140VJN2

    4. XM_047425787.1 → XP_047281743.1  leucine-rich repeat-containing protein 27 isoform X2

    5. XM_047425788.1 → XP_047281744.1  leucine-rich repeat-containing protein 27 isoform X4

    6. XM_024448208.2 → XP_024303976.1  leucine-rich repeat-containing protein 27 isoform X4

      UniProtKB/TrEMBL
      B3KUK5
      Conserved Domains (3) summary
      sd00031
      Location:49 → 68
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:67 → 126
      LRR_8; Leucine rich repeat
      cl26511
      Location:225 → 478
      Neuromodulin_N; Gap junction protein N-terminal region

    7. XM_011540209.3 → XP_011538511.1  leucine-rich repeat-containing protein 27 isoform X2

      UniProtKB/TrEMBL
      B3KUK5
      Conserved Domains (4) summary
      sd00031
      Location:49 → 68
      LRR_1; leucine-rich repeat [structural motif]
      pfam12302
      Location:331 → 471
      DUF3629; Protein of unknown function (DUF3629)
      pfam12799
      Location:67 → 108
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:67 → 126
      LRR_8; Leucine rich repeat

    8. XM_006717984.4 → XP_006718047.1  leucine-rich repeat-containing protein 27 isoform X4

      UniProtKB/TrEMBL
      B3KUK5
      Conserved Domains (3) summary
      sd00031
      Location:49 → 68
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:67 → 126
      LRR_8; Leucine rich repeat
      cl26511
      Location:225 → 478
      Neuromodulin_N; Gap junction protein N-terminal region

    9. XM_047425789.1 → XP_047281745.1  leucine-rich repeat-containing protein 27 isoform X5

    10. XM_017016690.3 → XP_016872179.1  leucine-rich repeat-containing protein 27 isoform X3

      UniProtKB/TrEMBL
      B3KUK5

    11. XM_047425793.1 → XP_047281749.1  leucine-rich repeat-containing protein 27 isoform X8

    12. XM_047425791.1 → XP_047281747.1  leucine-rich repeat-containing protein 27 isoform X8

    13. XM_047425792.1 → XP_047281748.1  leucine-rich repeat-containing protein 27 isoform X8

    14. XM_047425794.1 → XP_047281750.1  leucine-rich repeat-containing protein 27 isoform X9

    15. XM_047425790.1 → XP_047281746.1  leucine-rich repeat-containing protein 27 isoform X6

    16. XM_017016692.3 → XP_016872181.1  leucine-rich repeat-containing protein 27 isoform X8

      UniProtKB/Swiss-Prot
      Q9C0I9
      Conserved Domains (4) summary
      cd00116
      Location:50 → 150
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00031
      Location:49 → 68
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:67 → 108
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:67 → 126
      LRR_8; Leucine rich repeat

    17. XM_017016693.3 → XP_016872182.1  leucine-rich repeat-containing protein 27 isoform X9

    18. XM_017016691.3 → XP_016872180.1  leucine-rich repeat-containing protein 27 isoform X6

    19. XM_011540210.4 → XP_011538512.1  leucine-rich repeat-containing protein 27 isoform X7

      Related
      ENSP00000357601.1, ENST00000368612.3
      Conserved Domains (1) summary
      pfam12302
      Location:204 → 344
      DUF3629; Protein of unknown function (DUF3629)

    RNA

    1. XR_001747213.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      133272696..133327017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366809.1 → XP_054222784.1  leucine-rich repeat-containing protein 27 isoform X1

      UniProtKB/Swiss-Prot
      A6NE72, A6NJB4, A6NKD3, D3DRH0, Q5SZH6, Q5SZH8, Q5SZH9, Q86XT5, Q8N7C8, Q8NA21, Q9C0I9
      UniProtKB/TrEMBL
      A0A140VJN2

    2. XM_054366816.1 → XP_054222791.1  leucine-rich repeat-containing protein 27 isoform X4

    3. XM_054366811.1 → XP_054222786.1  leucine-rich repeat-containing protein 27 isoform X2

    4. XM_054366814.1 → XP_054222789.1  leucine-rich repeat-containing protein 27 isoform X4

    5. XM_054366817.1 → XP_054222792.1  leucine-rich repeat-containing protein 27 isoform X5

    6. XM_054366813.1 → XP_054222788.1  leucine-rich repeat-containing protein 27 isoform X3

    7. XM_054366824.1 → XP_054222799.1  leucine-rich repeat-containing protein 27 isoform X8

    8. XM_054366823.1 → XP_054222798.1  leucine-rich repeat-containing protein 27 isoform X8

    9. XM_054366826.1 → XP_054222801.1  leucine-rich repeat-containing protein 27 isoform X9

    10. XM_054366819.1 → XP_054222794.1  leucine-rich repeat-containing protein 27 isoform X6

    11. XM_054366821.1 → XP_054222796.1  leucine-rich repeat-containing protein 27 isoform X8

    12. XM_054366825.1 → XP_054222800.1  leucine-rich repeat-containing protein 27 isoform X9

    13. XM_054366818.1 → XP_054222793.1  leucine-rich repeat-containing protein 27 isoform X6

    14. XM_054366808.1 → XP_054222783.1  leucine-rich repeat-containing protein 27 isoform X1

      UniProtKB/Swiss-Prot
      A6NE72, A6NJB4, A6NKD3, D3DRH0, Q5SZH6, Q5SZH8, Q5SZH9, Q86XT5, Q8N7C8, Q8NA21, Q9C0I9
      UniProtKB/TrEMBL
      A0A140VJN2

    15. XM_054366822.1 → XP_054222797.1  leucine-rich repeat-containing protein 27 isoform X8

    16. XM_054366815.1 → XP_054222790.1  leucine-rich repeat-containing protein 27 isoform X4

    17. XM_054366812.1 → XP_054222787.1  leucine-rich repeat-containing protein 27 isoform X2

    18. XM_054366810.1 → XP_054222785.1  leucine-rich repeat-containing protein 27 isoform X1

      UniProtKB/Swiss-Prot
      A6NE72, A6NJB4, A6NKD3, D3DRH0, Q5SZH6, Q5SZH8, Q5SZH9, Q86XT5, Q8N7C8, Q8NA21, Q9C0I9
      UniProtKB/TrEMBL
      A0A140VJN2

    19. XM_054366820.1 → XP_054222795.1  leucine-rich repeat-containing protein 27 isoform X7

    RNA

    1. XR_008488271.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C0I9.2 GenPept UniProtKB/Swiss-Prot:Q9C0I9

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