Human Gene ITGA1 (uc003jou.3)
  Description: Homo sapiens integrin, alpha 1 (ITGA1), mRNA.
RefSeq Summary (NM_181501): This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr5:52,083,774-52,249,485 Size: 165,712 Total Exon Count: 29 Strand: +
Coding Region
   Position: hg19 chr5:52,084,188-52,248,281 Size: 164,094 Coding Exon Count: 29 

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 (chr5:52,083,774-52,249,485)mRNA (may differ from genome)Protein (1179 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ITA1_HUMAN
DESCRIPTION: RecName: Full=Integrin alpha-1; AltName: Full=CD49 antigen-like family member A; AltName: Full=Laminin and collagen receptor; AltName: Full=VLA-1; AltName: CD_antigen=CD49a; Flags: Precursor;
FUNCTION: Integrin alpha-1/beta-1 is a receptor for laminin and collagen. It recognizes the proline-hydroxylated sequence G-F-P-G- E-R in collagen.
SUBUNIT: Heterodimer of an alpha and a beta subunit. Alpha-1 associates with beta-1. Interacts with RAB21.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
DOMAIN: The integrin I-domain (insert) is a VWFA domain. Integrins with I-domains do not undergo protease cleavage.
SIMILARITY: Belongs to the integrin alpha chain family.
SIMILARITY: Contains 7 FG-GAP repeats.
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): ITGA1
CDC HuGE Published Literature: ITGA1
Positive Disease Associations: gamma-Glutamyltransferase , Hemoglobin A, Glycosylated , Respiratory Function Tests , Sodium
Related Studies:
  1. gamma-Glutamyltransferase
    John C Chambers et al. Nature genetics 2011, Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma., Nature genetics. [PubMed 22001757]
  2. Hemoglobin A, Glycosylated
    Andrew D Paterson et al. Diabetes 2010, A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose., Diabetes. [PubMed 19875614]
    A major locus for A1C and glucose in individuals with diabetes is near SORCS1. This may influence the design and analysis of genetic studies attempting to identify risk factors for long-term diabetic complications.
  3. Hemoglobin A, Glycosylated
    Andrew D Paterson et al. Diabetes 2010, A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose., Diabetes. [PubMed 19875614]
    A major locus for A1C and glucose in individuals with diabetes is near SORCS1. This may influence the design and analysis of genetic studies attempting to identify risk factors for long-term diabetic complications.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ITGA1
Diseases sorted by gene-association score: phimosis (12), colon carcinoma in situ (11), fibrolamellar carcinoma (7), gilles de la tourette syndrome (2)

-  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: 39.84 RPKM in Esophagus - Muscularis
Total median expression: 477.07 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 -170.55414-0.412 Picture PostScript Text
3' UTR -272.871204-0.227 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
IPR013517 - FG-GAP
IPR013519 - Int_alpha_beta-p
IPR000413 - Integrin_alpha
IPR013649 - Integrin_alpha-2
IPR018184 - Integrin_alpha_C_CS
IPR002035 - VWF_A

Pfam Domains:
PF00092 - von Willebrand factor type A domain
PF01839 - FG-GAP repeat
PF08441 - Integrin alpha
PF13519 - von Willebrand factor type A domain
PF13768 - von Willebrand factor type A domain

SCOP Domains:
69179 - Integrin domains
69318 - Integrin alpha N-terminal domain
53300 - vWA-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1PT6 - X-ray MuPIT 1QC5 - X-ray MuPIT 1QCY - X-ray MuPIT 2L8S - NMR MuPIT 4A0Q - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P56199
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
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0005518 collagen binding
GO:0019903 protein phosphatase binding
GO:0046872 metal ion binding
GO:0098639 collagen binding involved in cell-matrix adhesion

Biological Process:
GO:0000187 activation of MAPK activity
GO:0006936 muscle contraction
GO:0007155 cell adhesion
GO:0007160 cell-matrix adhesion
GO:0007229 integrin-mediated signaling pathway
GO:0008285 negative regulation of cell proliferation
GO:0030198 extracellular matrix organization
GO:0030593 neutrophil chemotaxis
GO:0032516 positive regulation of phosphoprotein phosphatase activity
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway
GO:0042311 vasodilation
GO:0043525 positive regulation of neuron apoptotic process
GO:0045123 cellular extravasation
GO:0048812 neuron projection morphogenesis
GO:0060326 cell chemotaxis

Cellular Component:
GO:0001669 acrosomal vesicle
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:0034665 integrin alpha1-beta1 complex
GO:0043005 neuron projection
GO:0043204 perikaryon
GO:0045121 membrane raft
GO:0045178 basal part of cell
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LP895512 - Sequence 376 from Patent EP3253886.
AK300423 - Homo sapiens cDNA FLJ61587 partial cds, highly similar to Integrin alpha-1.
BC050277 - Homo sapiens cDNA clone IMAGE:5271603, containing frame-shift errors.
BC137121 - Homo sapiens integrin, alpha 1, mRNA (cDNA clone MGC:168741 IMAGE:9021118), complete cds.
BC137122 - Homo sapiens integrin, alpha 1, mRNA (cDNA clone MGC:168742 IMAGE:9021119), complete cds.
X68742 - H.sapiens mRNA for integrin, alpha subunit.
AK056144 - Homo sapiens cDNA FLJ31582 fis, clone NT2RI2002117, highly similar to Protein pelota homolog.
AY117399 - Homo sapiens pelota major mRNA, complete cds; alternatively spliced.
JD512230 - Sequence 493254 from Patent EP1572962.
JD559619 - Sequence 540643 from Patent EP1572962.
JD152041 - Sequence 133065 from Patent EP1572962.
JD168169 - Sequence 149193 from Patent EP1572962.
JD368059 - Sequence 349083 from Patent EP1572962.
JD346996 - Sequence 328020 from Patent EP1572962.
BX640981 - Homo sapiens mRNA; cDNA DKFZp686K01222 (from clone DKFZp686K01222).
JD302038 - Sequence 283062 from Patent EP1572962.
BX648284 - Homo sapiens mRNA; cDNA DKFZp686B03125 (from clone DKFZp686B03125).
JD376890 - Sequence 357914 from Patent EP1572962.
JD108547 - Sequence 89571 from Patent EP1572962.
JD394309 - Sequence 375333 from Patent EP1572962.
JD373449 - Sequence 354473 from Patent EP1572962.
JD368366 - Sequence 349390 from Patent EP1572962.
JD351122 - Sequence 332146 from Patent EP1572962.
JD486841 - Sequence 467865 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
hsa05410 - Hypertrophic cardiomyopathy (HCM)
hsa05412 - Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414 - Dilated cardiomyopathy

Reactome (by CSHL, EBI, and GO)

Protein P56199 (Reactome details) participates in the following event(s):

R-HSA-434990 SEMA7A binds to integrin alpha1beta1
R-HSA-2484965 Collagen type XIII binds Integrin alpha1beta1
R-HSA-4084912 Arresten binds integrin alpha1beta1
R-HSA-114563 Collagen type I binds integrin alpha1beta1, alpha2beta1, alpha10beta1
R-HSA-216040 Collagen type IV networks bind integrins alpha1beta1, alpha2beta1
R-HSA-445088 CHL1 interacts with beta1 integrins
R-HSA-2327695 Collagen types III, IV, V, VI, VIII, IX, XVI bind integrins alpha1beta1 and alpha2beta1
R-NUL-4084908 Collagen type I binds integrin alpha1beta1, alpha2beta1, alpha10beta1
R-NUL-4084922 Collagen type IV binds integrin alpha2beta1, alpha1beta1
R-HSA-216051 Integrin alpha6beta1, alpha7beta1, alpha1beta1, alpha2beta1 bind laminin-111
R-NUL-3907289 Integrin alpha6beta1, alpha7beta1, alpha1beta1, alpha2beta1, alphaVbeta1 bind laminin-111
R-NUL-4084899 Collagen type II binds integrin alpha2beta1, alpha1beta1, alpha11beta1
R-HSA-4084910 Collagen type II binds integrin alpha2beta1, alpha1beta1, alpha11beta1
R-HSA-2467436 AGRN binds Integrins alphaVbeta1 (Other beta1-containing integrins)
R-HSA-445705 Release Of ADP From Myosin
R-HSA-445699 ATP Hydrolysis By Myosin
R-HSA-445700 Myosin Binds ATP
R-HSA-445704 Calcium Binds Caldesmon
R-HSA-416700 Other semaphorin interactions
R-HSA-216083 Integrin cell surface interactions
R-HSA-75892 Platelet Adhesion to exposed collagen
R-HSA-447041 CHL1 interactions
R-HSA-3000157 Laminin interactions
R-HSA-373755 Semaphorin interactions
R-HSA-1474244 Extracellular matrix organization
R-HSA-445355 Smooth Muscle Contraction
R-HSA-109582 Hemostasis
R-HSA-373760 L1CAM interactions
R-HSA-422475 Axon guidance
R-HSA-397014 Muscle contraction
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: B2RNU0, ITA1_HUMAN, NM_181501, NP_852478, P56199
UCSC ID: uc003jou.3
RefSeq Accession: NM_181501
Protein: P56199 (aka ITA1_HUMAN)
CCDS: CCDS3955.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_181501.1
exon count: 29CDS single in 3' UTR: no RNA size: 4811
ORF size: 3540CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7172.50frame shift in genome: no % Coverage: 99.69
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.