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    NPIPA5 nuclear pore complex interacting protein family member A5 [ Homo sapiens (human) ]

    Gene ID: 100288332, updated on 3-Apr-2024

    Summary

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    Official Symbol
    NPIPA5provided by HGNC
    Official Full Name
    nuclear pore complex interacting protein family member A5provided by HGNC
    Primary source
    HGNC:HGNC:41980
    See related
    Ensembl:ENSG00000183793 AllianceGenome:HGNC:41980
    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
    Also known as
    NPIP
    Summary
    Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in skin (RPKM 40.1), ovary (RPKM 32.3) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    16p13.11
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (15363624..15381646, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (15368420..15386444, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (15457481..15472151, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371097 Neighboring gene NANOG hESC enhancer GRCh37_chr16:15397080-15397581 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:15397585-15398086 Neighboring gene phospholipase A2 group XG, pseudogene Neighboring gene MPV17L-BMERB1 readthrough Neighboring gene ReSE screen-validated silencer GRCh37_chr16:15506027-15506244 Neighboring gene MPV17 mitochondrial inner membrane protein like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:15528749-15529371 Neighboring gene bMERB domain containing 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:15587399-15588598 Neighboring gene Sharpr-MPRA regulatory region 1380 Neighboring gene uncharacterized LOC105371102 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:15603978-15604478 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:15607777-15607948

    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. Novel retinal and cone photoreceptor transcripts revealed by human macular expression profiling. Hornan DM, et al. Invest Ophthalmol Vis Sci, 2007 Dec. PMID 18055785
    2. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. Wang AG, et al. Biochem Biophys Res Commun, 2006 Jul 7. PMID 16712791
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    nuclear pore complex-interacting protein family member A5

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_054723.1 RefSeqGene

      Range
      8185..22851
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001277325.2 → NP_001264254.1  nuclear pore complex-interacting protein family member A5 isoform 1

      See identical proteins and their annotated locations for NP_001264254.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC137803, CB123100, EL734608
      Consensus CDS
      CCDS59264.1
      UniProtKB/Swiss-Prot
      E9PKD4, Q0P618
      UniProtKB/TrEMBL
      A0A0J9YWV6
      Related
      ENSP00000433597.1, ENST00000360151.9
      Conserved Domains (1) summary
      pfam06409
      Location:27 → 307
      NPIP; Nuclear pore complex interacting protein (NPIP)

    2. NM_001351200.1 → NP_001338129.1  nuclear pore complex-interacting protein family member A5 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon, resulting in a novel 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AA770415, AC137803, CB053644, EL734608, KF175171, KF175172
      Consensus CDS
      CCDS86506.1
      UniProtKB/TrEMBL
      A0A067ZVG2, A0A067ZWN8
      Conserved Domains (1) summary
      pfam06409
      Location:22 → 214
      NPIP; Nuclear pore complex interacting protein (NPIP)

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      15363624..15381646 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522336.4 → XP_011520638.1  nuclear pore complex-interacting protein family member A5 isoform X6

      UniProtKB/TrEMBL
      A0A067ZWN6
      Conserved Domains (2) summary
      pfam06409
      Location:70 → 262
      NPIP; Nuclear pore complex interacting protein (NPIP)
      cl17068
      Location:1 → 41
      AFD_class_I; Adenylate forming domain, Class I superfamily

    2. XM_024450132.2 → XP_024305900.1  nuclear pore complex-interacting protein family member A5 isoform X2

      UniProtKB/TrEMBL
      A0A0J9YWV6
      Conserved Domains (2) summary
      pfam06409
      Location:41 → 240
      NPIP; Nuclear pore complex interacting protein (NPIP)
      cl17068
      Location:1 → 41
      AFD_class_I; Adenylate forming domain, Class I superfamily

    3. XM_047433462.1 → XP_047289418.1  nuclear pore complex-interacting protein family member A5 isoform X2

    4. XM_047433461.1 → XP_047289417.1  nuclear pore complex-interacting protein family member A5 isoform X2

    5. XM_047433463.1 → XP_047289419.1  nuclear pore complex-interacting protein family member A5 isoform X3

    6. XM_047433460.1 → XP_047289416.1  nuclear pore complex-interacting protein family member A5 isoform X1

    7. XM_047433464.1 → XP_047289420.1  nuclear pore complex-interacting protein family member A5 isoform X5

    8. XM_047433465.1 → XP_047289421.1  nuclear pore complex-interacting protein family member A5 isoform X6

    9. XM_047433467.1 → XP_047289423.1  nuclear pore complex-interacting protein family member A5 isoform X8

      Related
      ENSP00000441072.1, ENST00000543801.5

    10. XM_011522329.4 → XP_011520631.1  nuclear pore complex-interacting protein family member A5 isoform X4

      See identical proteins and their annotated locations for XP_011520631.1

      UniProtKB/TrEMBL
      E9PJ88
      Related
      ENSP00000435611.1, ENST00000534094.1
      Conserved Domains (2) summary
      pfam06409
      Location:70 → 325
      NPIP; Nuclear pore complex interacting protein (NPIP)
      cl17068
      Location:1 → 41
      AFD_class_I; Adenylate forming domain, Class I superfamily

    11. XM_011522337.1 → XP_011520639.1  nuclear pore complex-interacting protein family member A5 isoform X7

      UniProtKB/TrEMBL
      H0YED6
      Conserved Domains (1) summary
      pfam06409
      Location:26 → 245
      NPIP; Nuclear pore complex interacting protein (NPIP)

    RNA

    1. XR_932754.4 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187607.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1021570..1039871 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329048.1 → XP_054185023.1  nuclear pore complex-interacting protein family member A5 isoform X6

    2. XM_054329044.1 → XP_054185019.1  nuclear pore complex-interacting protein family member A5 isoform X2

    3. XM_054329045.1 → XP_054185020.1  nuclear pore complex-interacting protein family member A5 isoform X2

    4. XM_054329043.1 → XP_054185018.1  nuclear pore complex-interacting protein family member A5 isoform X2

    5. XM_054329042.1 → XP_054185017.1  nuclear pore complex-interacting protein family member A5 isoform X1

    6. XM_054329046.1 → XP_054185021.1  nuclear pore complex-interacting protein family member A5 isoform X4

    7. XM_054329049.1 → XP_054185024.1  nuclear pore complex-interacting protein family member A5 isoform X9

    8. XM_054329047.1 → XP_054185022.1  nuclear pore complex-interacting protein family member A5 isoform X6

    9. XM_054329051.1 → XP_054185026.1  nuclear pore complex-interacting protein family member A5 isoform X8

    10. XM_054329052.1 → XP_054185027.1  nuclear pore complex-interacting protein family member A5 isoform X11

    11. XM_054329050.1 → XP_054185025.1  nuclear pore complex-interacting protein family member A5 isoform X10

    RNA

    1. XR_008485618.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      15368420..15386444 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379330.1 → XP_054235305.1  nuclear pore complex-interacting protein family member A5 isoform X6

    2. XM_054379326.1 → XP_054235301.1  nuclear pore complex-interacting protein family member A5 isoform X2

    3. XM_054379327.1 → XP_054235302.1  nuclear pore complex-interacting protein family member A5 isoform X2

    4. XM_054379325.1 → XP_054235300.1  nuclear pore complex-interacting protein family member A5 isoform X2

    5. XM_054379324.1 → XP_054235299.1  nuclear pore complex-interacting protein family member A5 isoform X1

    6. XM_054379328.1 → XP_054235303.1  nuclear pore complex-interacting protein family member A5 isoform X4

    7. XM_054379329.1 → XP_054235304.1  nuclear pore complex-interacting protein family member A5 isoform X6

    8. XM_054379331.1 → XP_054235306.1  nuclear pore complex-interacting protein family member A5 isoform X8

    9. XM_054379332.1 → XP_054235307.1  nuclear pore complex-interacting protein family member A5 isoform X12

    RNA

    1. XR_008489042.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    E9PKD4.1 GenPept UniProtKB/Swiss-Prot:E9PKD4

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