Human Gene ITGA3 (ENST00000007722.11) from GENCODE V44
  Description: Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4. Alpha- 3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration. (from UniProt P26006)
RefSeq Summary (NM_002204): The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function as cell surface adhesion molecules. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 3 subunit. This subunit joins with a beta 1 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. Expression of this gene may be correlated with breast cancer metastasis. [provided by RefSeq, Oct 2015].
Gencode Transcript: ENST00000007722.11
Gencode Gene: ENSG00000005884.18
Transcript (Including UTRs)
   Position: hg38 chr17:50,056,440-50,089,729 Size: 33,290 Total Exon Count: 25 Strand: +
Coding Region
   Position: hg38 chr17:50,056,440-50,089,265 Size: 32,826 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:50,056,440-50,089,729)mRNA (may differ from genome)Protein (1066 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
HPRDLynxMalacardsMGIneXtProtPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ITA3_HUMAN
DESCRIPTION: RecName: Full=Integrin alpha-3; AltName: Full=CD49 antigen-like family member C; AltName: Full=FRP-2; AltName: Full=Galactoprotein B3; Short=GAPB3; AltName: Full=VLA-3 subunit alpha; AltName: CD_antigen=CD49c; Contains: RecName: Full=Integrin alpha-3 heavy chain; Contains: RecName: Full=Integrin alpha-3 light chain; Flags: Precursor;
FUNCTION: Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4. Alpha- 3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration.
SUBUNIT: Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of an heavy and a light chain linked by a disulfide bond. Alpha-3 associates with beta-1. Interacts with HPS5.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Isoform 1 is widely expressed. Isoform 2 is expressed in brain and heart. In brain, both isoforms are exclusively expressed on vascular smooth muscle cells, whereas in heart isoform 1 is strongly expressed on vascular smooth muscle cells, isoform 2 is detected only on endothelial vein cells.
PTM: Isoform 1, but not isoform 2, is phosphorylated on serine residues. Phosphorylation increases after phorbol 12-myristate 13- acetate stimulation.
DISEASE: Defects in ITGA3 are the cause of interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital (ILNEB) [MIM:614748]. A multiorgan disorder characterized by congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease.
SIMILARITY: Belongs to the integrin alpha chain family.
SIMILARITY: Contains 7 FG-GAP repeats.

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: ITGA3
Diseases sorted by gene-association score: interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital* (1681), lrba-related common variable immune deficiency* (71), hydrocele (15), interstitial lung disease (14), nephrotic syndrome (13), villous adenocarcinoma (11), lung disease (8), inguinal hernia (5), cheilitis (5), familial nephrotic syndrome (5), lung cancer (2)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 62.67 RPKM in Artery - Tibial
Total median expression: 954.01 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
3' UTR -165.00464-0.356 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
IPR013519 - Int_alpha_beta-p
IPR000413 - Integrin_alpha
IPR013649 - Integrin_alpha-2
IPR018184 - Integrin_alpha_C_CS

Pfam Domains:
PF08441 - Integrin alpha

ModBase Predicted Comparative 3D Structure on P26006
FrontTopSide
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001968 fibronectin binding
GO:0002020 protease binding
GO:0005178 integrin binding
GO:0005515 protein binding
GO:0005518 collagen binding
GO:0019904 protein domain specific binding
GO:0043236 laminin binding
GO:0046872 metal ion binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0001764 neuron migration
GO:0007155 cell adhesion
GO:0007160 cell-matrix adhesion
GO:0007229 integrin-mediated signaling pathway
GO:0007507 heart development
GO:0007613 memory
GO:0010628 positive regulation of gene expression
GO:0010634 positive regulation of epithelial cell migration
GO:0010811 positive regulation of cell-substrate adhesion
GO:0010976 positive regulation of neuron projection development
GO:0017015 regulation of transforming growth factor beta receptor signaling pathway
GO:0030111 regulation of Wnt signaling pathway
GO:0030198 extracellular matrix organization
GO:0030324 lung development
GO:0030510 regulation of BMP signaling pathway
GO:0031345 negative regulation of cell projection organization
GO:0034698 response to gonadotropin
GO:0035024 negative regulation of Rho protein signal transduction
GO:0035640 exploration behavior
GO:0042493 response to drug
GO:0043588 skin development
GO:0048333 mesodermal cell differentiation
GO:0050900 leukocyte migration
GO:0060135 maternal process involved in female pregnancy
GO:0072006 nephron development
GO:0097062 dendritic spine maintenance
GO:0097205 renal filtration
GO:1903078 positive regulation of protein localization to plasma membrane

Cellular Component:
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0008305 integrin complex
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0030054 cell junction
GO:0030426 growth cone
GO:0031527 filopodium membrane
GO:0034667 integrin alpha3-beta1 complex
GO:0042995 cell projection
GO:0043235 receptor complex
GO:0045202 synapse
GO:0048471 perinuclear region of cytoplasm
GO:0060076 excitatory synapse
GO:0070062 extracellular exosome
GO:0071438 invadopodium membrane
GO:0071944 cell periphery
GO:0097060 synaptic membrane


-  Descriptions from all associated GenBank mRNAs
  AK293323 - Homo sapiens cDNA FLJ59664 complete cds, highly similar to Integrin alpha-3 precursor.
AK303384 - Homo sapiens cDNA FLJ60385 complete cds, highly similar to Integrin alpha-3 precursor.
AB209658 - Homo sapiens mRNA for integrin alpha 3 isoform b, precursor variant protein.
BC150190 - Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor), mRNA (cDNA clone MGC:164987 IMAGE:40148521), complete cds.
BC015344 - Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor), mRNA (cDNA clone IMAGE:4446368), with apparent retained intron.
HM005409 - Homo sapiens clone HTL-T-96 testicular tissue protein Li 96 mRNA, complete cds.
AK289961 - Homo sapiens cDNA FLJ77488 complete cds, highly similar to Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant a, mRNA.
M59911 - Human integrin alpha-3 chain mRNA, complete cds.
BC136636 - Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor), mRNA (cDNA clone MGC:168249 IMAGE:9020626), complete cds.
BC144328 - Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor), mRNA (cDNA clone MGC:177865 IMAGE:9052848), complete cds.
HM005411 - Homo sapiens clone HTL-T-98 testicular tissue protein Li 98 mRNA, complete cds.
D01038 - Homo sapiens mRNA for VLA-3 alpha subunit, partial cds.
AK095140 - Homo sapiens cDNA FLJ37821 fis, clone BRSSN2004304.
JD025379 - Sequence 6403 from Patent EP1572962.
AK092023 - Homo sapiens cDNA FLJ34704 fis, clone MESAN2002978.
AX747318 - Sequence 843 from Patent EP1308459.
AK091950 - Homo sapiens cDNA FLJ34631 fis, clone KIDNE2015598.
AX747273 - Sequence 798 from Patent EP1308459.
JD030781 - Sequence 11805 from Patent EP1572962.
BC043917 - Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor), mRNA (cDNA clone IMAGE:4844763), complete cds.
JD141415 - Sequence 122439 from Patent EP1572962.
JD378101 - Sequence 359125 from Patent EP1572962.
JD178350 - Sequence 159374 from Patent EP1572962.
JD099485 - Sequence 80509 from Patent EP1572962.
JD149682 - Sequence 130706 from Patent EP1572962.
JD495391 - Sequence 476415 from Patent EP1572962.
JD083909 - Sequence 64933 from Patent EP1572962.
JD486486 - Sequence 467510 from Patent EP1572962.
JD377843 - Sequence 358867 from Patent EP1572962.
JD423714 - Sequence 404738 from Patent EP1572962.
JD187984 - Sequence 169008 from Patent EP1572962.
JD479013 - Sequence 460037 from Patent EP1572962.
JD188540 - Sequence 169564 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04510 - Focal adhesion
hsa04512 - ECM-receptor interaction
hsa04640 - Hematopoietic cell lineage
hsa04810 - Regulation of actin cytoskeleton
hsa05200 - Pathways in cancer
hsa05222 - Small cell lung cancer
hsa05410 - Hypertrophic cardiomyopathy (HCM)
hsa05412 - Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414 - Dilated cardiomyopathy

Reactome (by CSHL, EBI, and GO)

Protein P26006 (Reactome details) participates in the following event(s):

R-HSA-204434 BSG (basigin) binds Integrin alpha3beta1, alpha6beta1
R-HSA-216048 Integrins alpha3beta1, alpha6beta4 bind laminin-332, 511, 521, (211, 221)
R-HSA-4085083 Tumstatin binds integrin alphaVbeta 3, alpha3beta1
R-HSA-4088264 Endostatin binds integrin alphaVbeta3, alphaVbeta5, alpha3beta1, alpha5beta1
R-HSA-265429 THBS1 (Thrombospondin-1) binds Integrin alpha3beta1, alpha4beta1
R-HSA-2467436 AGRN binds Integrins alphaVbeta1 (Other beta1-containing integrins)
R-HSA-210991 Basigin interactions
R-HSA-216083 Integrin cell surface interactions
R-HSA-3000157 Laminin interactions
R-HSA-202733 Cell surface interactions at the vascular wall
R-HSA-1474244 Extracellular matrix organization
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: A7E246, B7ZM80, B9EGQ1, BC136636, D3DTX4, D3DTX5, ENST00000007722.1, ENST00000007722.10, ENST00000007722.2, ENST00000007722.3, ENST00000007722.4, ENST00000007722.5, ENST00000007722.6, ENST00000007722.7, ENST00000007722.8, ENST00000007722.9, ITA3_HUMAN, MSK18, P26006, uc010dbm.1, uc010dbm.2, uc010dbm.3, uc010dbm.4
UCSC ID: ENST00000007722.11
RefSeq Accession: NM_002204
Protein: P26006 (aka ITA3_HUMAN)
CCDS: CCDS11558.1

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