COL1A1

GENERAL INFORMATION

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Gene name

COL1A1

Gene description

Collagen, type I, alpha 1

Protein class

Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

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

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA008405 , HPA011795
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

COL1A1 (HGNC Symbol)

Synonyms

OI4

Description

Collagen, type I, alpha 1 (HGNC Symbol)

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]

Chromosome

17

Cytoband

q21.33

Chromosome location (bp)

50183289 - 50201632

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000108821 (version 78.38)

Entrez gene

1277

UniProt

P02452 (UniProt - Evidence at protein level)

neXtProt

NX_P02452

Antibodypedia

COL1A1 antibodies


PROTEIN BROWSER

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ENST00000225964
 
ENST00000507689
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COL1A1-001 ENSP00000225964
ENST00000225964
P02452
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Show » Show » 1464 138.9 Yes 0
COL1A1-013 ENSP00000460459
ENST00000507689
I3L3H7
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Show » Show » 154 16.4 No 0