COL11A1

GENE INFORMATION

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Gene name

COL11A1 (HGNC Symbol)

Synonyms

CO11A1, COLL6, STL2

Description

Collagen, type XI, alpha 1 (HGNC Symbol)

Entrez gene summary

This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]

Chromosome

1

Cytoband

p21.1

Chromosome location (bp)

102876467 - 103108496

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000060718 (version 78.38)

Entrez gene

1301

UniProt

P12107 (UniProt - Evidence at protein level)

neXtProt

NX_P12107

Antibodypedia

COL11A1 antibodies
 

PROTEIN VIEW

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COL11A1-001
 
COL11A1-002
 
COL11A1-003
 
COL11A1-008
 
COL11A1-201
 
COL11A1-202
 
 
 
 
 

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)

COL11A1-001 ENSP00000359114
ENST00000370096
P12107
Show all »
Show » Show » 1806 181.1 Yes 0
COL11A1-002 ENSP00000408640
ENST00000427239
C9JMN2
Show all »
Show » 570 62 Yes 0
COL11A1-003 ENSP00000410177
ENST00000447608
H7C381
Show all »
Show » 200 22.5 No 0
COL11A1-008 ENSP00000426533
ENST00000512756
P12107
Show all »
Show » Show » 1690 167.8 Yes 0
COL11A1-201 ENSP00000302551
ENST00000353414
P12107
Show all »
Show » Show » 1767 176.6 Yes 0
COL11A1-202 ENSP00000351163
ENST00000358392
P12107
Show all »
Show » Show » 1818 182.4 Yes 0