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NIPSNAP3B nipsnap homolog 3B [ Homo sapiens (human) ]

Gene ID: 55335, updated on 11-Jun-2021

Summary

Official Symbol
NIPSNAP3Bprovided by HGNC
Official Full Name
nipsnap homolog 3Bprovided by HGNC
Primary source
HGNC:HGNC:23641
See related
Ensembl:ENSG00000165028 MIM:608872
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
FP944; SNAP1; NIPSNAP3
Summary
NIPSNAP3B belongs to a family of proteins with putative roles in vesicular trafficking (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]
Expression
Broad expression in fat (RPKM 5.8), heart (RPKM 4.2) and 23 other tissues See more
Orthologs
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Genomic context

See NIPSNAP3B in Genome Data Viewer
Location:
9q31.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (104763741..104777764)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (107526410..107540045)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987105 Neighboring gene olfactory receptor family 13 subfamily D member 3 pseudogene Neighboring gene nipsnap homolog 3A Neighboring gene ATP binding cassette subfamily A member 1 Neighboring gene Sharpr-MPRA regulatory region 1797 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

Associated conditions

Description Tests
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of nipsnap homolog 3B (NIPSNAP3B) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11275, FLJ33186, FLJ34348

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_018376.4NP_060846.2  protein NipSnap homolog 3B

    See identical proteins and their annotated locations for NP_060846.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the protein.
    Source sequence(s)
    AF370389, AL359846, BC017914, DA346124
    Consensus CDS
    CCDS6761.1
    UniProtKB/Swiss-Prot
    Q9BS92
    UniProtKB/TrEMBL
    Q71RE8
    Related
    ENSP00000363894.3, ENST00000374762.4
    Conserved Domains (1) summary
    pfam07978
    Location:146245
    NIPSNAP; NIPSNAP

RNA

  1. NR_130759.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' region compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AF370389, AK310397, AL359846, BC017914, DA346124
  2. NR_130760.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an internal exon and a large segment in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC017914, BX107655, DA346124

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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
    104763741..104777764
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518839.1XP_011517141.1  protein NipSnap homolog 3B isoform X1

    UniProtKB/TrEMBL
    F2Z3L7
    Related
    ENSP00000435209.1, ENST00000460936.5
    Conserved Domains (1) summary
    pfam07978
    Location:37136
    NIPSNAP; NIPSNAP

RNA

  1. XR_428532.1 RNA Sequence

  2. XR_001746345.1 RNA Sequence

  3. XR_001746344.1 RNA Sequence

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