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COL12A1

GENERAL INFORMATION

Gene name

 COL12A1

Gene description

 Collagen, type XII, alpha 1

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

 Intracellular,Secreted

Number of transcripts

 8
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Mixed
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Low cytoplasmic expression in several tissues, including plasma positivity.

DATA RELIABILITY

Data reliability
description

 Secreted protein, tissue location of RNA and protein might differ and correlation is complex. Caution, Splice and/or transcript discrepancy exists.

Reliability score

 Uncertain based on 1 antibody.
HPA009143
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Esophagus

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 COL12A1 (HGNC Symbol)

Synonyms

 COL12A1L

Description

 Collagen, type XII, alpha 1 (HGNC Symbol)

Entrez gene summary

 This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Chromosome

 6

Cytoband

Chromosome location (bp)

 75084326 - 75206051

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000111799 (version 83.38)

Entrez gene

 1303

UniProt

 Q99715 (UniProt - Evidence at protein level)

neXtProt

 NX_Q99715

Antibodypedia

 COL12A1 antibodies

PROTEIN BROWSER
COL12A1-001
COL12A1-002
COL12A1-003
COL12A1-006
COL12A1-007
COL12A1-008
COL12A1-009
COL12A1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
COL12A1-001
ENSP00000325146
ENST00000322507
Q99715 [Direct mapping]
Collagen alpha-1(XII) chain
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001501 [skeletal system development]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005595 [collagen type XII trimer]
GO:0005615 [extracellular space]
GO:0005788 [endoplasmic reticulum lumen]
GO:0007155 [cell adhesion]
GO:0022617 [extracellular matrix disassembly]
GO:0030020 [extracellular matrix structural constituent conferring tensile strength]
GO:0030198 [extracellular matrix organization]
GO:0030199 [collagen fibril organization]
GO:0030574 [collagen catabolic process]
GO:0031012 [extracellular matrix]
GO:0035987 [endodermal cell differentiation]
GO:0070062 [extracellular exosome]
GO:1903561 [extracellular vesicle]
Show all
 3063 aa
333.1 kDa 		Yes 0
COL12A1-002
ENSP00000305147
ENST00000345356
Q99715 [Direct mapping]
Collagen alpha-1(XII) chain
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001501 [skeletal system development]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005595 [collagen type XII trimer]
GO:0005615 [extracellular space]
GO:0005788 [endoplasmic reticulum lumen]
GO:0007155 [cell adhesion]
GO:0022617 [extracellular matrix disassembly]
GO:0030020 [extracellular matrix structural constituent conferring tensile strength]
GO:0030198 [extracellular matrix organization]
GO:0030199 [collagen fibril organization]
GO:0030574 [collagen catabolic process]
GO:0031012 [extracellular matrix]
GO:0035987 [endodermal cell differentiation]
GO:0070062 [extracellular exosome]
GO:1903561 [extracellular vesicle]
Show all
 1899 aa
205.5 kDa 		Yes 0
COL12A1-003
ENSP00000421216
ENST00000483888
D6RGG3 [Direct mapping]
Collagen alpha-1(XII) chain
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
 3062 aa
333.2 kDa 		Yes 0
COL12A1-006
ENSP00000423423
ENST00000493109
H0Y991 [Direct mapping]
Collagen alpha-1(XII) chain
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 207 aa
23.2 kDa 		No 0
COL12A1-007
ENSP00000393217
ENST00000419671
H0Y4P7 [Direct mapping]
Collagen alpha-1(XII) chain
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
 638 aa
70.8 kDa 		No 0
COL12A1-008
ENSP00000399812
ENST00000425443
H0Y5N9 [Direct mapping]
Collagen alpha-1(XII) chain
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 756 aa
79.8 kDa 		No 0
COL12A1-009
ENSP00000412864
ENST00000416123
Q99715 [Direct mapping]
Collagen alpha-1(XII) chain
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Plasma proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001501 [skeletal system development]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005595 [collagen type XII trimer]
GO:0005615 [extracellular space]
GO:0005788 [endoplasmic reticulum lumen]
GO:0007155 [cell adhesion]
GO:0022617 [extracellular matrix disassembly]
GO:0030020 [extracellular matrix structural constituent conferring tensile strength]
GO:0030198 [extracellular matrix organization]
GO:0030199 [collagen fibril organization]
GO:0030574 [collagen catabolic process]
GO:0031012 [extracellular matrix]
GO:0035987 [endodermal cell differentiation]
GO:0070062 [extracellular exosome]
GO:1903561 [extracellular vesicle]
Show all
 2987 aa
324.6 kDa 		Yes 0
COL12A1-201
ENSP00000483232
ENST00000615798
A0A087X0A8 [Direct mapping]
Collagen alpha-1(XII) chain
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
 1874 aa
203.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.