VCPIP1 valosin containing protein interacting protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: VCPIP1provided by HGNC
Official Full Name: valosin containing protein interacting protein 1provided by HGNC
Primary source: HGNC:HGNC:30897
See related: Ensembl:ENSG00000175073 MIM:611745; AllianceGenome:HGNC:30897
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: DUBA3; VCIP135
Summary: Enables cysteine-type deubiquitinase activity. Involved in protein deubiquitination; protein-DNA covalent cross-linking repair; and regulation of protein localization to chromatin. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 10.6), spleen (RPKM 6.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q13.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (66628487..66667231, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (67054243..67092986, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (67540722..67579466, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BoNT/A catalytic light chain binds to, and is a substrate for, the ubiquitin ligase HECTD2. However, the light chain evades proteasomal degradation by the dominant effect of a deubiquitinating enzyme, VCIP135/VCPIP1. This deubiquitinating enzyme binds BoNT/A light chain directly.
Title: Deubiquitinating enzyme VCIP135 dictates the duration of botulinum neurotoxin type A intoxication.
Phosphorylation and ubiquitination are coordinated via VCIP135 to control Golgi membrane dynamics in the cell cycle.
Title: Cell cycle regulation of VCIP135 deubiquitinase activity and function in p97/p47-mediated Golgi reassembly.
VCIP135 phosphorylation regulates its Golgi membrane association and p97 interaction, and thus contributes to the tight control of the Golgi disassembly and reassembly process during the cell cycle.
Title: Phosphorylation regulates VCIP135 function in Golgi membrane fusion during the cell cycle.
the phosphorylation of VCIP135 on Threonine-760 and Serine-767 inhibits p97-mediated Golgi membrane fusion at mitosis
Title: Mitotic phosphorylation of VCIP135 blocks p97ATPase-mediated Golgi membrane fusion.
evidence of tyrosine phosphorylation during sperm capacitation
Title: Phosphoproteome analysis of capacitated human sperm. Evidence of tyrosine phosphorylation of a kinase-anchoring protein 3 and valosin-containing protein/p97 during capacitation.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH45986 (e-PCR)
- UniSTS:71987

D8S1785 (e-PCR), detects polymorphism
- UniSTS:53068

SHGC-44568 (e-PCR)
- UniSTS:56671

SGC44568 (e-PCR)
- UniSTS:59380

Clone Names

FLJ23132, FLJ60694, KIAA1850, DKFZp686G038

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type deubiquitinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type deubiquitinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in Golgi reassembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoplasmic reticulum membrane fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein K11-linked deubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K48-linked deubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein deubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein-DNA covalent cross-linking repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein-DNA covalent cross-linking repair	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein localization to chromatin	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi stack	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: deubiquitinating protein VCPIP1

Names: VCP/p47 complex-interacting 135-kDa protein; deubiquitinating protein VCIP135; valosin-containing protein p97/p47 complex-interacting protein 1; valosin-containing protein p97/p47 complex-interacting protein p135

NP_079330.2

EC 3.4.19.12

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.