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SVIP small VCP interacting protein [ Homo sapiens (human) ]

Gene ID: 258010, updated on 23-Nov-2021

Summary

Official Symbol
SVIPprovided by HGNC
Official Full Name
small VCP interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:25238
See related
Ensembl:ENSG00000198168
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
Endoplasmic reticulum-associated degradation (ERAD) is the pathway by which misfolded proteins in the endoplasmic reticulum are targeted to the proteasome for degradation. Multiple specialized proteins interact with one another during ERAD to complete this process. The protein encoded by this gene is an inhibitor of ERAD, functioning to disrupt the interaction of these protein components. This downregulation of ERAD may be needed to protect the cell from overactive protein degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Expression
Ubiquitous expression in thyroid (RPKM 21.5), stomach (RPKM 10.9) and 25 other tissues See more
Orthologs
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Genomic context

See SVIP in Genome Data Viewer
Location:
11p14.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (22812429..22829865, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (22840473..22851347, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene FA complementation group F Neighboring gene growth arrest specific 2 Neighboring gene RNA, 5S ribosomal pseudogene 338 Neighboring gene coiled-coil domain containing 179 Neighboring gene Sharpr-MPRA regulatory region 14851

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?

Phenotypes

Associated conditions

Description Tests
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
GeneReviews: Not available
Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp313A2432

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein self-association IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in anchored component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in anchored component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in secretory granule membrane TAS
Traceable Author Statement
more info
 
located_in smooth endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in tertiary granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
small VCP/p97-interacting protein

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_001320340.1NP_001307269.1  small VCP/p97-interacting protein isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes one of two longer isoforms (1).
    Source sequence(s)
    AC006299, AF527534, BI826588
    UniProtKB/Swiss-Prot
    Q8NHG7
    Conserved Domains (1) summary
    pfam15811
    Location:1775
    SVIP; Small VCP/p97-interacting protein
  2. NM_001320341.3NP_001307270.1  small VCP/p97-interacting protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and uses an alternate splice junction in the 3' end compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus and a longer and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AA347778, AC006299
    Conserved Domains (1) summary
    pfam15811
    Location:173
    SVIP; Small VCP/p97-interacting protein
  3. NM_001320342.3NP_001307271.1  small VCP/p97-interacting protein isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and uses an alternate splice junction in the 3' end compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus and a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC006299, AF527534, DB135755, DB466086
    UniProtKB/Swiss-Prot
    Q8NHG7
    Conserved Domains (1) summary
    pfam15811
    Location:173
    SVIP; Small VCP/p97-interacting protein
  4. NM_148893.3NP_683691.1  small VCP/p97-interacting protein isoform 3

    See identical proteins and their annotated locations for NP_683691.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC006299, AF527534
    Consensus CDS
    CCDS41627.1
    UniProtKB/Swiss-Prot
    Q8NHG7
    Related
    ENSP00000346130.4, ENST00000354193.5
    Conserved Domains (1) summary
    pfam15811
    Location:173
    SVIP; Small VCP/p97-interacting protein

RNA

  1. NR_135213.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC006299, AF527534, BF219509, BG531443, DA306370

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    22812429..22829865 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448423.1XP_024304191.1  small VCP/p97-interacting protein isoform X1

    Conserved Domains (1) summary
    pfam15811
    Location:173
    SVIP; Small VCP/p97-interacting protein
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