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NPIPA8 nuclear pore complex interacting protein family member A8 [ Homo sapiens (human) ]

Gene ID: 101059953, updated on 10-Oct-2023

Summary

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Official Symbol
NPIPA8provided by HGNC
Official Full Name
nuclear pore complex interacting protein family member A8provided by HGNC
Primary source
HGNC:HGNC:41983
See related
Ensembl:ENSG00000214940 AllianceGenome:HGNC:41983
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
NPIPA7; LCR16a9
Summary
Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 33.2), ovary (RPKM 24.8) and 25 other tissues See more
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Genomic context

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See NPIPA8 in Genome Data Viewer
Location:
16p12.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (18317919..18336736, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (18325162..18343979, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (18411776..18430593, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376751 Neighboring gene PKD1P4-NPIPA8 readthrough Neighboring gene phospholipase A2 group XI, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:18435865-18436656 Neighboring gene PKD1P5-LOC105376752 readthrough Neighboring gene polycystin 1, transient receptor potential channel interacting pseudogene 4 Neighboring gene microRNA 6511a-4 Neighboring gene nuclear pore complex interacting protein family, member A9 Neighboring gene polycystin 1, transient receptor potential channel interacting pseudogene 5

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. Positive selection of a gene family during the emergence of humans and African apes. Johnson ME, et al. Nature, 2001 Oct 4. PMID 11586358
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  3. 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

Readthrough PKD1P4-NPIPA8

Readthrough gene: PKD1P4-NPIPA8, Included gene: PKD1P4

Homology

General protein information

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Preferred Names
nuclear pore complex-interacting protein family member A8
Names
Nuclear pore complex-interacting protein family member A7
morpheus gene family member 9

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_001282511.3 → NP_001269440.1  nuclear pore complex-interacting protein family member A8

    See identical proteins and their annotated locations for NP_001269440.1

    Status: VALIDATED

    Source sequence(s)
    AC126755
    Consensus CDS
    CCDS61865.1
    UniProtKB/Swiss-Prot
    E9PJI5, P0DM63
    UniProtKB/TrEMBL
    A0A0J9YW05
    Related
    ENSP00000435325.1, ENST00000525596.6
    Conserved Domains (1) summary
    pfam06409
    Location:22 → 221
    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
    18317919..18336736 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187607.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    537683..791405
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    18325162..18343979 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0DM63.1 GenPept UniProtKB/Swiss-Prot:P0DM63

Gene LinkOut

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