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NIPSNAP1 nipsnap homolog 1 [ Homo sapiens (human) ]

Gene ID: 8508, updated on 12-Oct-2019

Summary

Official Symbol
NIPSNAP1provided by HGNC
Official Full Name
nipsnap homolog 1provided by HGNC
Primary source
HGNC:HGNC:7827
See related
Ensembl:ENSG00000184117 MIM:603249
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in mitochondrial DNA maintenance. A pseudogene of this gene is located on the short arm of chromosome 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
Expression
Ubiquitous expression in liver (RPKM 78.8), kidney (RPKM 57.0) and 24 other tissues See more
Orthologs

Genomic context

See NIPSNAP1 in Genome Data Viewer
Location:
22q12.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (29554808..29581113, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29950797..29977326, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene neurofilament heavy Neighboring gene THO complex 5 Neighboring gene Sharpr-MPRA regulatory region 2653 Neighboring gene ribulose-5-phosphate-3-epimerase pseudogene 4 Neighboring gene neurofibromin 2 Neighboring gene calcium binding protein 7 Neighboring gene zinc finger matrin-type 5

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
neurotransmitter binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
sensory perception of pain IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein NipSnap homolog 1
Names
4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1

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_001202502.1NP_001189431.1  protein NipSnap homolog 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK298816, BC006473
    UniProtKB/Swiss-Prot
    Q9BPW8
    UniProtKB/TrEMBL
    B4DQI7
    Conserved Domains (1) summary
    pfam07978
    Location:165262
    NIPSNAP; NIPSNAP
  2. NM_003634.4NP_003625.2  protein NipSnap homolog 1 isoform 1

    See identical proteins and their annotated locations for NP_003625.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC005529, BC006473
    Consensus CDS
    CCDS13860.1
    UniProtKB/Swiss-Prot
    Q9BPW8
    Related
    ENSP00000216121.7, ENST00000216121.12
    Conserved Domains (1) summary
    pfam07978
    Location:185282
    NIPSNAP; NIPSNAP

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    29554808..29581113 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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