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Aliases for ITGA1 Gene

Aliases for ITGA1 Gene

  • Integrin Subunit Alpha 1 2 3 5
  • CD49 Antigen-Like Family Member A 3 4
  • Laminin And Collagen Receptor 3 4
  • VLA-1 3 4
  • Very Late Activation Protein 1 3
  • Integrin, Alpha 1 2
  • Integrin Alpha-1 3
  • CD49a Antigen 4
  • CD49a 3
  • VLA1 3

External Ids for ITGA1 Gene

Previous GeneCards Identifiers for ITGA1 Gene

  • GC05P052249
  • GC05U900017
  • GC05P052099
  • GC05P052119
  • GC05P052083
  • GC05P049056

Summaries for ITGA1 Gene

Entrez Gene Summary for ITGA1 Gene

  • 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]

GeneCards Summary for ITGA1 Gene

ITGA1 (Integrin Subunit Alpha 1) is a Protein Coding gene. Diseases associated with ITGA1 include Phimosis and Colon Carcinoma In Situ. Among its related pathways are GPCR Pathway and MAPK-Erk Pathway. GO annotations related to this gene include receptor binding and collagen binding. An important paralog of this gene is ITGA2.

UniProtKB/Swiss-Prot for ITGA1 Gene

  • 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. Involved in anchorage-dependent, negative regulation of EGF-stimulated cell growth.

Tocris Summary for ITGA1 Gene

  • Integrins are ubiquitously expressed adhesion molecules. They are cell-surface receptors that exist as heterodimers of alpha and beta subunits. Under physiological conditions, integrins are highly glycosylated and contain a Ca2+ or Mg2+ ion, which is essential for ligand binding.

Gene Wiki entry for ITGA1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGA1 Gene

Genomics for ITGA1 Gene

Regulatory Elements for ITGA1 Gene

Enhancers for ITGA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G052921 1.1 Ensembl ENCODE 24 +134.8 134759 1.4 TBP PKNOX1 FOXA2 NFIB INSM2 SIN3A RAD21 RFX5 GATA2 ELK1 ITGA1 RPL17P21 ITGA2
GH05G052723 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15.5 -61.5 -61501 5.0 TBP TAF1 JUN MAX BRCA1 RAD21 YY1 RFX5 GATA3 POLR3A ITGA1 PELO LOC105378963 LOC105378964 MFSD4BP1
GH05G052809 1.2 Ensembl ENCODE dbSUPER 18 +22.7 22705 2.8 CTCF JUN CEBPB MAX EP300 NR2F2 JUND ZNF341 FOS PRDM10 PELO ITGA1 LOC105378963 PIR48652 B3GNTL1P1
GH05G052821 1.1 Ensembl ENCODE dbSUPER 17.8 +34.7 34676 1.2 SMARCA4 ZNF341 SCRT2 MAX HNF4A RAD21 NR2F2 ITGA1 LOC105378963 PELO PIR48652 B3GNTL1P1
GH05G052915 1.1 Ensembl ENCODE 11.6 +127.6 127574 0.8 CTCF PKNOX1 SAP130 TEAD4 RAD21 YY1 TEAD3 GTF3C2 GATA3 ZNF366 ITGA1 PELO LOC105378963 ITGA2 ENSG00000249899 RPL17P21
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ITGA1 on UCSC Golden Path with GeneCards custom track

Promoters for ITGA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000180363 704 2801 HNRNPUL1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF48 YY1 TCF12

Genomic Location for ITGA1 Gene

Chromosome:
5
Start:
52,787,896 bp from pter
End:
52,959,210 bp from pter
Size:
171,315 bases
Orientation:
Plus strand

Genomic View for ITGA1 Gene

Genes around ITGA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGA1 Gene

Proteins for ITGA1 Gene

  • Protein details for ITGA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56199-ITA1_HUMAN
    Recommended name:
    Integrin alpha-1
    Protein Accession:
    P56199
    Secondary Accessions:
    • B2RNU0

    Protein attributes for ITGA1 Gene

    Size:
    1179 amino acids
    Molecular mass:
    130848 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. Alpha-1 associates with beta-1. Interacts with RAB21. Interacts (via cytoplasmic domain) with PTPN2; activates PTPN2 phosphatase activity towards EGFR and negatively regulates EGF signaling.

    Three dimensional structures from OCA and Proteopedia for ITGA1 Gene

neXtProt entry for ITGA1 Gene

Post-translational modifications for ITGA1 Gene

  • Glycosylation at isoforms=74, posLast=100100, isoforms=105, isoforms=112, isoforms=217, posLast=317317, posLast=341341, isoforms=402, isoforms=418, isoforms=460, isoforms=532, posLast=699699, isoforms=748, isoforms=780, posLast=840840, posLast=883883, posLast=908908, posLast=915915, isoforms=939, posLast=966966, posLast=974974, posLast=10081008, posLast=10731073, posLast=10831083, posLast=11021102, and isoforms=1113
  • Modification sites at PhosphoSitePlus

Other Protein References for ITGA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ITGA1 Gene

Domains & Families for ITGA1 Gene

Gene Families for ITGA1 Gene

Suggested Antigen Peptide Sequences for ITGA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P56199

UniProtKB/Swiss-Prot:

ITA1_HUMAN :
  • The integrin I-domain (insert) is a VWFA domain. Integrins with I-domains do not undergo protease cleavage.
  • Belongs to the integrin alpha chain family.
Domain:
  • The integrin I-domain (insert) is a VWFA domain. Integrins with I-domains do not undergo protease cleavage.
Family:
  • Belongs to the integrin alpha chain family.
genes like me logo Genes that share domains with ITGA1: view

Function for ITGA1 Gene

Molecular function for ITGA1 Gene

GENATLAS Biochemistry:
integrin,alpha 1,cell surface adhesion receptor mediating cell-adhesion to extra cellular matrix or to other cells,through hetero dimerization and connecting to the cytoskeleton and various signaling molecules within cells,dimerizing with ITGB1 in collagen,laminin receptors
UniProtKB/Swiss-Prot 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. Involved in anchorage-dependent, negative regulation of EGF-stimulated cell growth.

Gene Ontology (GO) - Molecular Function for ITGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IEA --
GO:0005515 protein binding IPI 16754661
GO:0005518 collagen binding TAS 8428973
GO:0019903 protein phosphatase binding IPI 15592458
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ITGA1: view
genes like me logo Genes that share phenotypes with ITGA1: view

Animal Models for ITGA1 Gene

MGI Knock Outs for ITGA1:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for ITGA1 (Integrin alpha 1/CD49a)

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ITGA1 Gene

Localization for ITGA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGA1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITGA1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ITGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion IDA 11518510
GO:0008305 integrin complex TAS 8428973
GO:0009897 external side of plasma membrane IEA --
genes like me logo Genes that share ontologies with ITGA1: view

Pathways & Interactions for ITGA1 Gene

genes like me logo Genes that share pathways with ITGA1: view

Pathways by source for ITGA1 Gene

Gene Ontology (GO) - Biological Process for ITGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IEA --
GO:0006936 muscle contraction TAS --
GO:0007155 cell adhesion IEA --
GO:0007160 cell-matrix adhesion IMP 24823363
GO:0007229 integrin-mediated signaling pathway IEA --
genes like me logo Genes that share ontologies with ITGA1: view

No data available for SIGNOR curated interactions for ITGA1 Gene

Drugs & Compounds for ITGA1 Gene

(13) Drugs for ITGA1 Gene - From: DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
SAN-300 Pharma 0
BIO 1211 Pharma α4β1 inhibitor,selective and high affinity, Selective alpha4beta1 (VLA-4) inhibitor 0
Cilengitide Pharma Integrin inhibitor for αvβ3 and αvβ5, Integrins, Potent and selective inhibitor of integrins alphavbeta3 and alphavbeta5 0
Obtustatin Pharma Potent and selective alpha1beta1 inhibitor 0
TC-I 15 Pharma Potent alpha2beta1 inhibitor; displays antithrombotic activity in vivo 0

(2) Additional Compounds for ITGA1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
BTT 3033
1259028-99-3

(5) Tocris Compounds for ITGA1 Gene

Compound Action Cas Number
BIO 1211 Selective alpha4beta1 (VLA-4) inhibitor 187735-94-0
BTT 3033 Selective inhibitor of integrin alpha2beta1 1259028-99-3
Cilengitide Potent and selective inhibitor of integrins alphavbeta3 and alphavbeta5 188968-51-6
Obtustatin Potent and selective alpha1beta1 inhibitor
TC-I 15 Potent alpha2beta1 inhibitor; displays antithrombotic activity in vivo 916734-43-5
genes like me logo Genes that share compounds with ITGA1: view

Transcripts for ITGA1 Gene

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for ITGA1 (Integrin alpha 1/CD49a)

Alternative Splicing Database (ASD) splice patterns (SP) for ITGA1 Gene

No ASD Table

Relevant External Links for ITGA1 Gene

GeneLoc Exon Structure for
ITGA1
ECgene alternative splicing isoforms for
ITGA1

Expression for ITGA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITGA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITGA1 Gene

This gene is overexpressed in Esophagus - Muscularis (x4.2).

Protein differential expression in normal tissues from HIPED for ITGA1 Gene

This gene is overexpressed in Seminal vesicle (12.2) and Prostate (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ITGA1 Gene



Protein tissue co-expression partners for ITGA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ITGA1 Gene:

ITGA1

Evidence on tissue expression from TISSUES for ITGA1 Gene

  • Liver(4.5)
  • Nervous system(4.3)
  • Bone marrow(4.2)
  • Heart(2.4)
  • Lung(2.4)
  • Spleen(2.4)
  • Intestine(2.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with ITGA1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGA1 Gene

Orthologs for ITGA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ITGA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITGA1 34 35
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia ITGA1 34 35
  • 91.51 (n)
cow
(Bos Taurus)
Mammalia ITGA1 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itga1 34
  • 85.09 (n)
mouse
(Mus musculus)
Mammalia Itga1 34 16 35
  • 84.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ITGA1 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ITGA1 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITGA1 34 35
  • 72.2 (n)
lizard
(Anolis carolinensis)
Reptilia ITGA1 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itga1 34
  • 65.66 (n)
Str.15516 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.24376 34
zebrafish
(Danio rerio)
Actinopterygii itga1 34 35
  • 59.21 (n)
zgc56550 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 22 (a)
OneToMany
Species where no ortholog for ITGA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ITGA1 Gene

ENSEMBL:
Gene Tree for ITGA1 (if available)
TreeFam:
Gene Tree for ITGA1 (if available)

Paralogs for ITGA1 Gene

(4) SIMAP similar genes for ITGA1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ITGA1: view

Variants for ITGA1 Gene

Sequence variations from dbSNP and Humsavar for ITGA1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000029607 -- 52,807,553(+) GCAAA(A/C)ATGTA intron-variant
rs1000036176 -- 52,803,938(+) GTCTT(C/T)CAAAA intron-variant
rs1000051789 -- 52,850,202(+) TCACC(A/G)TGTTG intron-variant
rs1000056122 -- 52,933,644(+) ATTTT(A/C)ACTTT intron-variant
rs1000135690 -- 52,953,373(+) TAAGG(G/T)TTCCA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ITGA1 Gene

Variant ID Type Subtype PubMed ID
dgv197n6 CNV deletion 16902084
dgv3086n106 CNV duplication 24896259
esv1002775 CNV deletion 20482838
esv1167986 CNV deletion 17803354
esv1295358 CNV deletion 17803354
esv2399032 CNV deletion 18987734
esv2475081 CNV loss 19546169
esv2590093 CNV deletion 19546169
esv2730174 CNV deletion 23290073
esv2730175 CNV deletion 23290073
esv2730176 CNV deletion 23290073
esv3293607 CNV deletion 24192839
esv3407 CNV loss 18987735
esv3565917 CNV deletion 23714750
esv3894188 CNV gain 25118596
esv8218 CNV loss 19470904
nsv1020640 CNV gain 25217958
nsv1027410 CNV gain 25217958
nsv1076581 CNV duplication 25765185
nsv1123946 CNV deletion 24896259
nsv1140358 OTHER inversion 24896259
nsv1140541 CNV deletion 24896259
nsv462187 CNV gain 19166990
nsv471013 CNV gain 18288195
nsv598163 CNV gain 21841781
nsv830295 CNV gain 17160897
nsv830296 CNV gain 17160897
nsv950694 CNV duplication 24416366
nsv955778 CNV deletion 24416366

Variation tolerance for ITGA1 Gene

Residual Variation Intolerance Score: 17.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.45; 92.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITGA1 Gene

Human Gene Mutation Database (HGMD)
ITGA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGA1 Gene

Disorders for ITGA1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ITGA1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
phimosis
  • tight foreskin
colon carcinoma in situ
  • carcinoma in situ of colon
fibrolamellar carcinoma
  • fibrolamellar hepatocellular carcinoma
gilles de la tourette syndrome
  • tourette syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ITGA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ITGA1

Genetic Association Database (GAD)
ITGA1
Human Genome Epidemiology (HuGE) Navigator
ITGA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITGA1
genes like me logo Genes that share disorders with ITGA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ITGA1 Gene

Publications for ITGA1 Gene

  1. Expression of native and truncated forms of the human integrin alpha 1 subunit. (PMID: 8428973) Briesewitz R. … Marcantonio E.E. (J. Biol. Chem. 1993) 2 3 4 22 64
  2. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. (PMID: 21946350) Soler Artigas M. … Tobin M.D. (Nat. Genet. 2011) 3 46 64
  3. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers J.C. … Kooner J.S. (Nat. Genet. 2011) 3 46 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Expression of estrogen receptor beta increases integrin alpha1 and integrin beta1 levels and enhances adhesion of breast cancer cells. (PMID: 19780039) Lindberg K. … Helguero L.A. (J. Cell. Physiol. 2010) 3 22 64

Products for ITGA1 Gene

Sources for ITGA1 Gene

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