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    ITGA6 integrin, alpha 6 [ Homo sapiens ]

    Gene ID: 3655, updated on 20-May-2012

    Summary

    Official Symbol
    ITGA6provided by HGNC
    Official Full Name
    integrin, alpha 6provided by HGNC
    Primary source
    HGNC:6142
    See related
    Ensembl:ENSG00000091409; HPRD:00945; MIM:147556; Vega:OTTHUMG00000132277
    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
    CD49f; VLA-6; ITGA6B; FLJ18737; DKFZp686J01244
    Summary
    The ITGA6 protein product is the integrin alpha chain alpha 6. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. For example, alpha 6 may combine with beta 4 in the integrin referred to as TSP180, or with beta 1 in the integrin VLA-6. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    2q31.1
    Sequence :
    Chromosome: 2; NC_000002.11 (173292314..173371181)
    See ITGA6 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene distal-less homeobox 1 Neighboring gene distal-less homeobox 2 Neighboring gene uncharacterized LOC100287375 Neighboring gene pyruvate dehydrogenase kinase, isozyme 1 Neighboring gene uncharacterized LOC91149 Neighboring gene Rap guanine nucleotide exchange factor (GEF) 4

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Phenotypes

    Epidermolysis bullosa, junctional, with pyloric stenosis

    Summary from GeneReviews: Go to GeneReviews

    Disease Characteristics
    Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder). The course of EB-PA is usually severe and often lethal in the neonatal period. Although most affected children succumb as neonates, those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of EB include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, and contractures.
    Diagnosis Testing
    Because the clinical features of all types of epidermolysis bullosa (EB) overlap significantly, examination of a skin biopsy by transmission electron microscopy (TEM) and/ or immunofluorescent antibody/antigen mapping is usually required to establish the diagnosis. The three genes in which mutation is known to cause EB-PA are ITGB4 (~80% of EB-PA), ITGA6 (~5%), and PLEC1 (~15%). Molecular genetic testing is available clinically for ITGB4, ITGA6, and PLEC1.
    Genetic Counseling
    EB-PA is inherited in an autosomal recessive manner. The parents of an affected child are usually obligate heterozygotes (i.e., carriers). Because germline mosaicism and uniparental isodisomy are possible, carrier status of parents needs to be confirmed with molecular genetic testing. At conception, each sib of an affected individual whose parents are both carriers has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for family members at increased risk and prenatal diagnosis for pregnancies at increased risk are possible if both disease-causing mutations have been identified in the family.
    References

    Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.

    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr-expressing Jurkat T cell clones showed upregulated expression of integrin alpha 6, suggesting a role of Vpr in modulating the cell adhesion process PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000201.1 NP_002202.2 ITGB1    BIND  PubMed VLA6-alpha6 interacts with VLA-beta1. 
    NP_000201.1 NP_000204.2 ITGB4    BIND  PubMed VLA6-alpha6 interacts with Integrin-beta4. 
    P23229 Q13443 ADAM9    HPRD  PubMed  
    P23229 O00499 BIN1    HPRD  PubMed  
    P23229 P27824 CANX    HPRD  PubMed  
    P23229 P48509 CD151    HPRD  PubMed  
    P23229 P16671 CD36    HPRD  PubMed  
    P23229 P08962 CD63    HPRD  PubMed  
    P23229 P27701 CD82    HPRD  PubMed  
    P23229 Q9UMD9 COL17A1    HPRD  PubMed  
    P23229 O14908 GIPC1    HPRD  PubMed  
    P23229 P62993 GRB2    HPRD  PubMed  
    P23229 P05556 ITGB1    HPRD  PubMed  
    P23229 P16144 ITGB4    HPRD  PubMed  
    P23229 Q92824 PCSK5    HPRD  PubMed  
    P23229 Q15149 PLEC    HPRD  PubMed  
    P23229 Q05655 PRKCD    HPRD  PubMed  
    P23229 P49023 PXN    HPRD  PubMed  
    P23229 P08865 RPSA    HPRD  PubMed  
    P23229 O14817 TSPAN4    HPRD  PubMed  
    BioGRID:109864 BioGRID:106771 BIN1    BioGRID  PubMed Two-hybrid 
    BioGRID:109864 BioGRID:107252 CALM1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109864 BioGRID:107386 CD36    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109864 BioGRID:115978 GIPC1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:109864 BioGRID:109894 ITGB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109864 BioGRID:111815 RABIF    BioGRID  PubMed Two-hybrid 
    BioGRID:109864 BioGRID:112961 TSPAN4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109864 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Alpha6-Beta4 Integrin Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Alpha6-Beta4 Integrin Signaling Pathway, organism-specific biosystem"Integrins are cell surface heterodimeric protein complex consisting of one alpha and one beta chain. Integrins act as cell adhesion molecules as well as participate in cellular signaling. The ligand...
    • Arf6 trafficking events, organism-specific biosystem (from Pathway Interaction Database)
      Arf6 trafficking events, organism-specific biosystem
      Arf6 trafficking events
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Basigin interactions, organism-specific biosystem (from REACTOME)
      Basigin interactions, organism-specific biosystemBasigin is a widely expressed transmembrane glycoprotein that belongs to the Ig superfamily and is highly enriched on the surface of epithelial cells. Basigin is involved in intercellular interaction...
    • CXCR4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      CXCR4-mediated signaling events, organism-specific biosystem
      CXCR4-mediated signaling events
    • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
      Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
      Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell junction organization, organism-specific biosystem (from REACTOME)
      Cell junction organization, organism-specific biosystem
      Cell junction organization
    • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
      Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
    • 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...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • ECM-receptor interaction, organism-specific biosystem (from KEGG)
      ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • ECM-receptor interaction, conserved biosystem (from KEGG)
      ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • 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...
    • Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
      Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Hematopoietic cell lineage, conserved biosystem (from KEGG)
      Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Integrin cell surface interactions, organism-specific biosystem (from REACTOME)
      Integrin cell surface interactions, organism-specific biosystemThe extracellular matrix (ECM) is a network of macro-molecules that underlies all epithelia and endothelia and that surrounds all connective tissue cells. This matrix provides the mechanical strength...
    • Integrin-mediated cell adhesion, organism-specific biosystem (from WikiPathways)
      Integrin-mediated cell adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Small cell lung cancer, organism-specific biosystem (from KEGG)
      Small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    • Small cell lung cancer, conserved biosystem (from KEGG)
      Small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    • Toxoplasmosis, organism-specific biosystem (from KEGG)
      Toxoplasmosis, organism-specific biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
    • Toxoplasmosis, conserved biosystem (from KEGG)
      Toxoplasmosis, conserved biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
    • Type I hemidesmosome assembly, organism-specific biosystem (from REACTOME)
      Type I hemidesmosome assembly, organism-specific biosystemHemidesmosomes (HDs) are specialized multiprotein junctional complexes that connect the keratin cytoskeleton of epithelial cells to the extracellular matrix and play a critical role in the maintenan...
    • Validated targets of C-MYC transcriptional repression, organism-specific biosystem (from Pathway Interaction Database)
      Validated targets of C-MYC transcriptional repression, organism-specific biosystem
      Validated targets of C-MYC transcriptional repression
    • a6b1 and a6b4 Integrin signaling, organism-specific biosystem (from Pathway Interaction Database)
      a6b1 and a6b4 Integrin signaling, organism-specific biosystem
      a6b1 and a6b4 Integrin signaling

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction assembly TAS
    Traceable Author Statement
    more info
     
    cell-substrate junction assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    hemidesmosome assembly TAS
    Traceable Author Statement
    more info
     
    integrin-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    leukocyte migration TAS
    Traceable Author Statement
    more info
     
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
     
    positive regulation of apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
     
    Component Evidence Code Pubs
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integrin complex IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    integrin alpha-6
    Names
    integrin alpha-6
    integrin alpha6B
    CD49 antigen-like family member F

    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_008853.1 RefSeqGene

      Range
      5001..83868
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000210.2NP_000201.2  integrin alpha-6 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate coding exon compared to variant 1, that results in a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC078883, DA760250, X53586, X59512
      Consensus CDS
      CCDS2249.1
      UniProtKB/Swiss-Prot
      P23229
      Related
      ENSP00000264107, OTTHUMP00000163117, ENST00000264107, OTTHUMT00000255369
      Conserved Domains (3) summary
      pfam08441
      Location:464939
      Blast Score: 982
      Integrin_alpha2; Integrin alpha
      pfam13517
      Location:324397
      Blast Score: 120
      VCBS; Family description
      cl15299
      Location:374425
      Blast Score: 167
      FG-GAP; FG-GAP repeat
    2. NM_001079818.1NP_001073286.1  integrin alpha-6 isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC078883, DA760250, X53586, X59512
      Consensus CDS
      CCDS46451.1
      UniProtKB/TrEMBL
      G5E9H1
      UniProtKB/Swiss-Prot
      P23229
      Related
      ENSP00000386896, OTTHUMP00000205046, ENST00000409080, OTTHUMT00000333825
      Conserved Domains (3) summary
      pfam08441
      Location:464939
      Blast Score: 981
      Integrin_alpha2; Integrin alpha
      pfam13517
      Location:324397
      Blast Score: 120
      VCBS; Family description
      cl15299
      Location:374425
      Blast Score: 167
      FG-GAP; FG-GAP repeat

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      173292314..173371181
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      165170787..165249645
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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