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    NIPSNAP1 nipsnap homolog 1 [ Homo sapiens (human) ]

    Gene ID: 8508, updated on 7-Oct-2018

    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; Vega:OTTHUMG00000151294
    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 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (29554808..29581337, 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 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat'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_003634.3NP_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, OTTHUMP00000199702, ENST00000216121.11, OTTHUMT00000322117
      Conserved Domains (1) summary
      pfam07978
      Location:185282
      NIPSNAP; NIPSNAP

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

      Range
      29554808..29581337 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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