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NPIPB12 nuclear pore complex interacting protein family member B12 [ Homo sapiens (human) ]

Gene ID: 440353, updated on 2-Nov-2024

Summary

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Official Symbol
NPIPB12provided by HGNC
Official Full Name
nuclear pore complex interacting protein family member B12provided by HGNC
Primary source
HGNC:HGNC:37491
See related
Ensembl:ENSG00000169203 AllianceGenome:HGNC:37491
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
Summary
Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

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See NPIPB12 in Genome Data Viewer
Location:
16p11.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (29483534..29506408, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (29765318..29788442, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29494855..29517729, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene SLX1B-SULT1A4 readthrough (NMD candidate) Neighboring gene SAGA complex associated factor 29 pseudogene Neighboring gene phospholipase A2 group XH, pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene SMG1 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7326 Neighboring gene uncharacterized LOC105371168 Neighboring gene microRNA 3680-2

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 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. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
  2. 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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Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
nuclear pore complex-interacting protein family member B12

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_001355401.2 → NP_001342330.1  nuclear pore complex-interacting protein family member B12 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC133555
    UniProtKB/Swiss-Prot
    F8W0I5
    Conserved Domains (3) summary
    PHA03307
    Location:666 → 926
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam06409
    Location:46 → 303
    NPIP; Nuclear pore complex interacting protein (NPIP)
    cl17068
    Location:2 → 41
    AFD_class_I; Adenylate forming domain, Class I superfamily

  2. NM_001395931.1 → NP_001382860.1  nuclear pore complex-interacting protein family member B12 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC133555
    UniProtKB/Swiss-Prot
    F8W0I5
    Related
    ENSP00000447597.2, ENST00000550665.6
    Conserved Domains (3) summary
    PHA03307
    Location:666 → 926
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam06409
    Location:46 → 303
    NPIP; Nuclear pore complex interacting protein (NPIP)
    cl17068
    Location:2 → 41
    AFD_class_I; Adenylate forming domain, Class I superfamily

  3. NM_001395932.1 → NP_001382861.1  nuclear pore complex-interacting protein family member B12 isoform b

    Status: VALIDATED

    Source sequence(s)
    AC133555
    Conserved Domains (1) summary
    PHA03307
    Location:647 → 907
    PHA03307; transcriptional regulator ICP4; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    29483534..29506408 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    29765318..29788442 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_029360.1: Suppressed sequence

    Description
    NG_029360.1: This RefSeq was removed because it is now thought that this locus is a transcribed gene.

  2. NR_002603.1: Suppressed sequence

    Description
    NR_002603.1: This RefSeq was permanently suppressed because there is insufficient evidence that this locus is transcribed.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
F8W0I5.2 GenPept UniProtKB/Swiss-Prot:F8W0I5

Gene LinkOut

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Research Materials