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    PARVB parvin beta [ Homo sapiens (human) ]

    Gene ID: 29780, updated on 9-Jun-2016
    Official Symbol
    PARVBprovided by HGNC
    Official Full Name
    parvin betaprovided by HGNC
    Primary source
    HGNC:HGNC:14653
    See related
    Ensembl:ENSG00000188677 HPRD:16284; MIM:608121; Vega:OTTHUMG00000150665
    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]
    Orthologs
    Location:
    22q13.2-q13.33
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (43999211..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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    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

    • Cell junction organization, organism-specific biosystem (from REACTOME)
      Cell junction organization, organism-specific biosystem
      Cell junction organization
    • Cell-Cell communication, organism-specific biosystem (from REACTOME)
      Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
    • Cell-extracellular matrix interactions, organism-specific biosystem (from REACTOME)
      Cell-extracellular matrix interactions, organism-specific biosystemCell-extracellular matrix (ECM) interactions play a critical role in regulating a variety of cellular processes in multicellular organisms including motility, shape change, survival, proliferation an...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Regulation of cytoskeletal remodeling and cell spreading by IPP complex components, organism-specific biosystem (from REACTOME)
      Regulation of cytoskeletal remodeling and cell spreading by IPP complex components, organism-specific biosystemThe PINCH-ILK-Parvin complexes function in transducing diverse signals from ECM to intracellular effectors. Interacting partners for components of these complexes have been identified, a number of ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ17029

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    actin cytoskeleton reorganization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    cell projection assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    establishment or maintenance of cell polarity regulating cell shape IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lamellipodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    beta-parvin
    Names
    affixin
    parvin, beta

    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_029743.1 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, OTTHUMP00000198195, ENST00000406477, OTTHUMT00000319517
      Conserved Domains (1) summary
      pfam00307
      Location:124227
      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, OTTHUMP00000198197, ENST00000404989, OTTHUMT00000319519
      Conserved Domains (1) summary
      pfam00307
      Location:54157
      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, ENST00000619710
      Conserved Domains (1) summary
      pfam00307
      Location:39142
      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, OTTHUMP00000198196, ENST00000338758, OTTHUMT00000319518
      Conserved Domains (1) summary
      pfam00307
      Location:91194
      CH; Calponin homology (CH) domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p7 Primary Assembly

      Range
      43999211..44169233
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028792.1XP_016884281.1  

    2. XM_005261596.1XP_005261653.1  

      Conserved Domains (1) summary
      pfam00307
      Location:39142
      CH; Calponin homology (CH) domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      44353851..44522290
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)