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NIPSNAP3A nipsnap homolog 3A [ Homo sapiens (human) ]

Gene ID: 25934, updated on 3-May-2020

Summary

Official Symbol
NIPSNAP3Aprovided by HGNC
Official Full Name
nipsnap homolog 3Aprovided by HGNC
Primary source
HGNC:HGNC:23619
See related
Ensembl:ENSG00000136783 MIM:608871
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
TASSC; HSPC299; NIPSNAP4
Summary
NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in adrenal (RPKM 23.3), colon (RPKM 20.0) and 25 other tissues See more
Orthologs

Genomic context

See NIPSNAP3A in Genome Data Viewer
Location:
9q31.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (104747683..104760120)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (107509969..107522403)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987105 Neighboring gene olfactory receptor family 13 subfamily D member 1 Neighboring gene olfactory receptor family 13 subfamily D member 3 pseudogene Neighboring gene nipsnap homolog 3B Neighboring gene ATP binding cassette subfamily A member 1 Neighboring gene uncharacterized LOC105376196

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

Description
Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
NHGRI GWA Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ13953, MGC14553, DKFZp564D177

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus HDA PubMed 

General protein information

Preferred Names
protein NipSnap homolog 3A
Names
protein NipSnap homolog 4
target for Salmonella secreted protein C

NCBI Reference Sequences (RefSeq)

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_001329570.2NP_001316499.1  protein NipSnap homolog 3A isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AK024015, AL359846, BP373678, HY046409
    UniProtKB/Swiss-Prot
    Q9UFN0
  2. NM_015469.3NP_056284.1  protein NipSnap homolog 3A isoform 1

    See identical proteins and their annotated locations for NP_056284.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC005935, HY046409
    Consensus CDS
    CCDS6760.1
    UniProtKB/Swiss-Prot
    Q9UFN0
    Related
    ENSP00000363899.4, ENST00000374767.5
    Conserved Domains (1) summary
    pfam07978
    Location:37136
    NIPSNAP; NIPSNAP

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    104747683..104760120
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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