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GENE AND PROTEIN SUMMARY

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Gene name

COL1A1

Description

collagen, type I, alpha 1

Protein class

Candidate cancer biomarkers, Mapped to UniProt SWISS-PROT, Mutated genes in cancer, Plasma proteins, Potential transmembrane proteins, Potentially secreted proteins

Protein evidence

Medium

Entrez gene summary

This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

2 in total
0 with predicted TM region
1 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus but not nucleoli, Cytoskeleton (Intermediate filaments)

Additional location(s)

 

Staining summary

Staining of cytoskeleton (intermediate filaments) in U-251 MG and U-2 OS with additional staining of nucleus in U-251 MG. Staining of nucleus in A-431.

Reliability (Single)

Antibodies in assay

HPA008405
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Expression in extracellular fibers combined with cytoplasmic expression in many cell types.

Tissue specificity

Expressed in 62 out of 79 cell types

Reliability (APE)

Very low

Antibodies in assay

HPA008405, HPA011795
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 11
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 13
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 42% of the cancers

Antibodies in assay

HPA008405, HPA011795
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA008405

HPA011795

HPA008405

A-431 Skin Low
Weak
A-549 Lung Low
CACO-2 Colon High
HEK 293 Embryonal kidney Low
HeLa Cervix High
Hep-G2 Liver Low
MCF-7 Pleural effusion Medium
PC-3 Bone marrow Medium
RT-4 Urinary bladder Low
U-2 OS Bone High
Strong
U-251 MG Brain Medium
Weak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA008405 pAb
HPA011795 pAb