ITGA1 (Integrin Subunit Alpha 1)

A key collagen receptor involved in cell adhesion, migration, and tissue homeostasis.

Gene Information Card

Symbol ITGA1
Full Name Integrin Subunit Alpha 1
Gene Type protein-coding
Chromosomal Location 5q11.2
NCBI Gene ID 3672 ncbi.nlm.nih.gov/gene/3672
Ensembl ID ENSG00000213949
UniProt ID P56199
OMIM ID 192968
HGNC ID 6137
Aliases CD49a, VLA1, VLA-1

Description

ITGA1 encodes the integrin alpha 1 subunit, which heterodimerizes with integrin beta 1 to form the collagen receptor VLA-1 (α1β1). This receptor mediates cell adhesion to collagen types I, IV, and VI, and plays roles in cell migration, proliferation, and extracellular matrix remodeling. ITGA1 is expressed in various tissues including smooth muscle, fibroblasts, and immune cells.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Colorectal cancer Altered ITGA1 expression may influence tumor cell adhesion and metastasis through collagen binding. NCBI Gene, COSMIC
Systemic sclerosis ITGA1 upregulation in fibroblasts contributes to excessive collagen deposition and fibrosis. NCBI Gene, OMIM
Rheumatoid arthritis ITGA1 expression on synovial fibroblasts promotes adhesion to cartilage collagen, driving joint destruction. NCBI Gene, PubMed

Expression Profile

Tissue Expression
Tissue nTPM level
Smooth muscle 12.5 Medium
Fibroblasts 15.2 Medium
Lung 8.3 Low
Kidney 6.1 Low
Liver 3.4 Not detected
Cell Line Expression
Cell Line nTPM Notes
A549 (lung carcinoma) 10.1 Moderate expression
HCT116 (colorectal carcinoma) 7.8 Low expression
HEK293 (embryonic kidney) 5.2 Low expression
MCF7 (breast carcinoma) 4.5 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234G>A (p.Gly412Arg) Missense <0.1% Unknown functional impact
c.567_568del (p.Leu190fs) Frameshift <0.01% Predicted loss of function
c.890C>T (p.Thr297Ile) Missense <0.05% Reduced collagen binding in vitro
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense variants that truncate the protein are predicted to cause loss of integrin function, impairing cell adhesion.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported in ITGA1.

Dominant Negative (DN)

No dominant-negative mutations described for ITGA1.

Pathways

Integrin signaling pathway (KEGG: hsa04510)
ECM-receptor interaction (KEGG: hsa04512)
Focal adhesion (KEGG: hsa04510)

Protein Summary

Integrin alpha-1 (CD49a) is a 1153-amino-acid transmembrane protein that forms a heterodimer with integrin beta-1. The extracellular domain contains seven FG-GAP repeats that mediate collagen binding, while the cytoplasmic tail interacts with cytoskeletal and signaling proteins. ITGA1 is critical for cell-matrix adhesion, particularly to collagens, and is involved in tissue repair, inflammation, and cancer progression.

Related Products

Product name Cat.No. Species Gene ID
ITGA1 Knockout HEK293 Cell Line EDJ-KQ806 Human 3672 Details Get a Quote
ITGA10 Knockout HEK293 Cell Line EDJ-KQ807 Human 8515 Details Get a Quote
ITGA11 Knockout HEK293 Cell Line EDJ-KQ808 Human 22801 Details Get a Quote
ITGA1 Knockout HCT 116 Cell Line EDJ-KQ18286 Human 3672 Details Get a Quote
ITGA1 Knockout A-549 Cell Line EDJ-KQ19543 Human 3672 Details Get a Quote
ITGA1 Knockout HeLa Cell Line EDJ-KQ19545 Human 3672 Details Get a Quote
ITGA10 Knockout HCT 116 Cell Line EDJ-KQ19546 Human 8515 Details Get a Quote
ITGA11 Knockout A-549 Cell Line EDJ-KQ19547 Human 22801 Details Get a Quote
ITGA11 Knockout HeLa Cell Line EDJ-KQ19548 Human 22801 Details Get a Quote
ITGA10 Knockout HeLa Cell Line EDJ-KQ54926 Human 8515 Details Get a Quote
ITGA10 Knockout A-549 Cell Line EDJ-KQ63412 Human 8515 Details Get a Quote
ITGA11 Knockout HCT 116 Cell Line EDJ-KQ72583 Human 22801 Details Get a Quote
Displaying Records 1 To 12 Of 12 Records
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