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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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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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