Human Gene ITGB7 (uc001scc.3)
  Description: Homo sapiens integrin, beta 7 (ITGB7), mRNA.
RefSeq Summary (NM_000889): This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms dimers with an alpha4 chain or an alphaE chain and plays a role in leukocyte adhesion. Dimerization with alpha4 forms a homing receptor for migration of lymphocytes to the intestinal mucosa and Peyer's patches. Dimerization with alphaE permits binding to the ligand epithelial cadherin, a calcium-dependent adhesion molecule. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013].
Transcript (Including UTRs)
   Position: hg19 chr12:53,585,107-53,601,000 Size: 15,894 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr12:53,585,340-53,594,227 Size: 8,888 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:53,585,107-53,601,000)mRNA (may differ from genome)Protein (798 aa)
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neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ITB7_HUMAN
DESCRIPTION: RecName: Full=Integrin beta-7; AltName: Full=Gut homing receptor beta subunit; Flags: Precursor;
FUNCTION: Integrin alpha-4/beta-7 (Peyer patches-specific homing receptor LPAM-1) is an adhesion molecule that mediates lymphocyte migration and homing to gut-associated lymphoid tissue (GALT). Integrin alpha-4/beta-7 interacts with the cell surface adhesion molecules MADCAM1 which is normally expressed by the vascular endothelium of the gastrointestinal tract. Interacts also with VCAM1 and fibronectin, an extracellular matrix component. It recognizes one or more domains within the alternatively spliced CS-1 region of fibronectin. Interactions involves the tripeptide L-D-T in MADCAM1, and L-D-V in fibronectin. Binds to HIV-1 gp120, thereby allowing the virus to enter GALT, which is thought to be the major trigger of AIDS disease. Interaction would involve a tripeptide L-D-I in HIV-1 gp120. Integrin alpha-E/beta-7 (HML-1) is a receptor for E-cadherin.
SUBUNIT: Heterodimer of an alpha and a beta subunit. Beta-7 associates with either alpha-4 or alpha-E. Integrin alpha-4/beta-7 interacts with MADCAM1, VCAM, fibronectin, and may also interact with HIV-1 gp120.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Expressed in a variety of leukocyte lines.
INDUCTION: Integrin alpha-E/beta-7 is induced by TGFB1.
DOMAIN: Domain I contains three cation-binding sites: the ligand- integrin-binding site (LIMBS), the metal ion-dependent adhesion site (MIDAS), and the adjacent to MIDAS site (ADMIDAS). In the absence of a ligand or in calcium-dependent binding, only ADMIDAS is occupied. In magnesium-dependent binding all three sites bind metal ions. LIMBS positively modify ligand binding whereas ADMIDAS negatively modify ligand binding.
SIMILARITY: Belongs to the integrin beta chain family.
SIMILARITY: Contains 1 VWFA domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ITGB7
CDC HuGE Published Literature: ITGB7

-  MalaCards Disease Associations
  MalaCards Gene Search: ITGB7
Diseases sorted by gene-association score: exfoliative ichthyosis (3), hiv-1 (3), peach allergy (2), ichthyosis bullosa of siemens (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 66.27 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 174.41 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -42.50141-0.301 Picture PostScript Text
3' UTR -83.90233-0.360 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013111 - EGF_extracell
IPR015812 - Integrin_bsu
IPR015437 - Integrin_bsu-7
IPR014836 - Integrin_bsu_cyt
IPR002369 - Integrin_bsu_N
IPR012896 - Integrin_bsu_tail
IPR003659 - Plexin-like
IPR016201 - Plexin-like_fold
IPR002035 - VWF_A

Pfam Domains:
PF00362 - Integrin beta chain VWA domain
PF07974 - EGF-like domain
PF08725 - Integrin beta cytoplasmic domain
PF17205 - Integrin plexin domain

SCOP Domains:
69179 - Integrin domains
53300 - vWA-like
69687 - Integrin beta tail domain
57196 - EGF/Laminin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2BRQ - X-ray MuPIT 3V4P - X-ray MuPIT 3V4V - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P26010
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001618 virus receptor activity
GO:0005515 protein binding
GO:0038023 signaling receptor activity
GO:0046872 metal ion binding
GO:0050839 cell adhesion molecule binding

Biological Process:
GO:0003366 cell-matrix adhesion involved in ameboidal cell migration
GO:0007155 cell adhesion
GO:0007160 cell-matrix adhesion
GO:0007229 integrin-mediated signaling pathway
GO:0030198 extracellular matrix organization
GO:0034113 heterotypic cell-cell adhesion
GO:0034446 substrate adhesion-dependent cell spreading
GO:0043113 receptor clustering
GO:0046718 viral entry into host cell
GO:0050776 regulation of immune response
GO:0050900 leukocyte migration
GO:0050901 leukocyte tethering or rolling
GO:0072678 T cell migration

Cellular Component:
GO:0005886 plasma membrane
GO:0008305 integrin complex
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0034669 integrin alpha4-beta7 complex
GO:0043235 receptor complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC015916 - Homo sapiens integrin, beta 7, mRNA (cDNA clone MGC:20174 IMAGE:4644086), complete cds.
LP895269 - Sequence 133 from Patent EP3253886.
S80335 - integrin beta 7 subunit [human, mRNA, 2798 nt].
M62880 - Human integrin beta-7 subunit mRNA, complete cds.
M68892 - Human integrin beta-7 subunit mRNA, complete cds.
AK298239 - Homo sapiens cDNA FLJ58402 complete cds, highly similar to Integrin beta-7 precursor.
JD119480 - Sequence 100504 from Patent EP1572962.
JD435669 - Sequence 416693 from Patent EP1572962.
JD468294 - Sequence 449318 from Patent EP1572962.
JD347098 - Sequence 328122 from Patent EP1572962.
JD381065 - Sequence 362089 from Patent EP1572962.
JD061491 - Sequence 42515 from Patent EP1572962.
JD481668 - Sequence 462692 from Patent EP1572962.
AK300960 - Homo sapiens cDNA FLJ56554 complete cds, highly similar to Integrin beta-7 precursor.
DQ895448 - Synthetic construct Homo sapiens clone IMAGE:100009908; FLH184489.01L; RZPDo839G07143D integrin, beta 7 (ITGB7) gene, encodes complete protein.
EU176336 - Synthetic construct Homo sapiens clone IMAGE:100006445; FLH184496.01X; RZPDo839C08251D integrin, beta 7 (ITGB7) gene, encodes complete protein.
AB384724 - Synthetic construct DNA, clone: pF1KB3017, Homo sapiens ITGB7 gene for integrin beta-7 precursor, complete cds, without stop codon, in Flexi system.
AK311703 - Homo sapiens cDNA, FLJ18745.
AK301523 - Homo sapiens cDNA FLJ60922 complete cds, highly similar to Integrin beta-7 precursor.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04510 - Focal adhesion
hsa04512 - ECM-receptor interaction
hsa04514 - Cell adhesion molecules (CAMs)
hsa04672 - Intestinal immune network for IgA production
hsa04810 - Regulation of actin cytoskeleton
hsa05410 - Hypertrophic cardiomyopathy (HCM)
hsa05412 - Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414 - Dilated cardiomyopathy

Reactome (by CSHL, EBI, and GO)

Protein P26010 (Reactome details) participates in the following event(s):

R-HSA-199032 MADCAM1-1 binds Integrin alpha4beta7
R-HSA-265422 Interaction of integrin alphaEbeta7 with Cadherin-1
R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-216083 Integrin cell surface interactions
R-HSA-1280218 Adaptive Immune System
R-HSA-1474244 Extracellular matrix organization
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ITB7_HUMAN, NM_000889, NP_000880, P26010, Q9UCP7, Q9UCS7
UCSC ID: uc001scc.3
RefSeq Accession: NM_000889
Protein: P26010 (aka ITB7_HUMAN)
CCDS: CCDS8849.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000889.1
exon count: 16CDS single in 3' UTR: no RNA size: 2798
ORF size: 2397CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4564.50frame shift in genome: no % Coverage: 99.03
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.