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PARVB parvin beta [ Homo sapiens (human) ]

Gene ID: 29780, updated on 21-Dec-2019

Summary

Official Symbol
PARVBprovided by HGNC
Official Full Name
parvin betaprovided by HGNC
Primary source
HGNC:HGNC:14653
See related
Ensembl:ENSG00000188677 MIM:608121
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
Also known as
CGI-56
Summary
This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Expression
Ubiquitous expression in fat (RPKM 14.3), heart (RPKM 12.4) and 24 other tissues See more
Orthologs

Genomic context

See PARVB in Genome Data Viewer
Location:
22q13.31
Exon count:
19
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (43999164..44169233)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (44395091..44565113)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene patatin like phospholipase domain containing 3 Neighboring gene ribosomal protein L35a pseudogene 36 Neighboring gene SAMM50 sorting and assembly machinery component Neighboring gene uncharacterized LOC107987326 Neighboring gene uncharacterized LOC107985570 Neighboring gene parvin gamma Neighboring gene uncharacterized LOC107985571

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

NHGRI GWAS Catalog

Description
Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese.
NHGRI GWA Catalog
Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
NHGRI GWA Catalog
Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of parvin, beta (PARVB) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ17029

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton reorganization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin cytoskeleton reorganization IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell projection assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell projection assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment or maintenance of cell polarity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
establishment or maintenance of cell polarity regulating cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
lamellipodium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lamellipodium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
substrate adhesion-dependent cell spreading IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Z disc IEA
Inferred from Electronic Annotation
more info
 
actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
lamellipodium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

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.

Genomic

  1. NG_029743.2 RefSeqGene

    Range
    5001..175023
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001003828.2NP_001003828.1  beta-parvin isoform a

    See identical proteins and their annotated locations for NP_001003828.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as CLINT or ParvB3) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AF237769, AF303887, AL035398, CA308417
    Consensus CDS
    CCDS46724.1
    UniProtKB/Swiss-Prot
    Q9HBI1
    Related
    ENSP00000384515.3, ENST00000406477.7
    Conserved Domains (1) summary
    pfam00307
    Location:121222
    CH; Calponin homology (CH) domain
  2. NM_001243385.1NP_001230314.1  beta-parvin isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream alternate start codon, compared to variant 1. The resulting isoform (c) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AL033543, BC039811, CA308417
    Consensus CDS
    CCDS58808.1
    UniProtKB/Swiss-Prot
    Q9HBI1
    Related
    ENSP00000384353.1, ENST00000404989.1
    Conserved Domains (1) summary
    pfam00307
    Location:50158
    CH; Calponin homology (CH) domain
  3. NM_001243386.1NP_001230315.1  beta-parvin isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream alternate start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (d) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AF237769, AK308443, AL033543, CA308417
    Consensus CDS
    CCDS74874.1
    UniProtKB/Swiss-Prot
    Q9HBI1
    UniProtKB/TrEMBL
    A0A087WZB5
    Related
    ENSP00000482511.1, ENST00000619710.4
    Conserved Domains (1) summary
    pfam00307
    Location:36137
    CH; Calponin homology (CH) domain
  4. NM_013327.4NP_037459.2  beta-parvin isoform b

    See identical proteins and their annotated locations for NP_037459.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as ParvB2) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The resulting isoform (b) has a distinct and shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AF237769, BP339885, CA308417
    Consensus CDS
    CCDS14056.1
    UniProtKB/Swiss-Prot
    Q9HBI1
    Related
    ENSP00000342492.6, ENST00000338758.11
    Conserved Domains (1) summary
    pfam00307
    Location:88189
    CH; Calponin homology (CH) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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
    43999164..44169233
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452236.1XP_024308004.1  beta-parvin isoform X2

    Conserved Domains (1) summary
    pfam00307
    Location:120228
    CH; Calponin homology (CH) domain
  2. XM_017028792.2XP_016884281.1  beta-parvin isoform X3

  3. XM_005261596.1XP_005261653.1  beta-parvin isoform X5

    Conserved Domains (1) summary
    pfam00307
    Location:36137
    CH; Calponin homology (CH) domain
  4. XM_024452235.1XP_024308003.1  beta-parvin isoform X1

    Conserved Domains (1) summary
    pfam00307
    Location:105213
    CH; Calponin homology (CH) domain
  5. XM_024452237.1XP_024308005.1  beta-parvin isoform X4

    Conserved Domains (1) summary
    pfam00307
    Location:50158
    CH; Calponin homology (CH) domain
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