TMCO1

GENE INFORMATION

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Gene name

TMCO1 (HGNC Symbol)

Synonyms

HP10122, TMCC4

Description

transmembrane and coiled-coil domains 1 (HGNC Symbol)

Entrez gene summary

This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

Chromosome

1 (Chromosome progress)

Cytoband

q24.1

Chromosome location (bp)

165696032 - 165796992

Ensembl

ENSG00000143183 (version 73.37)

Entrez gene

54499

UniProt

Q9UM00 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UM00

Antibodypedia

TMCO1 antibodies
 

PROTEIN VIEW

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TMCO1-001
 
TMCO1-002
 
TMCO1-003
 
TMCO1-005
 
TMCO1-006
 
TMCO1-007
 
TMCO1-008
 
 
 
 
 

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)

TMCO1-001 ENSP00000356856
ENST00000367881
J9JIE6
Show all »
Show » Show » 239 27.1 No 3
TMCO1-002 ENSP00000463105
ENST00000465705
J3KTQ7
Show all »
Show » Show » 152 17.5 No 1
TMCO1-003 ENSP00000462300
ENST00000481278
J3KS45
Show all »
Show » Show » 143 16.6 No 1
TMCO1-005 ENSP00000463951
ENST00000464650
J3QQY2
Show all »
Show » Show » 104 11.4 Yes 1
TMCO1-006 ENSP00000462588
ENST00000580248
J3QQY2
Show all »
Show » Show » 104 11.4 Yes 1
TMCO1-007 ENSP00000464127
ENST00000476143
Show » Show » 95 10.7 No 1
TMCO1-008 ENSP00000375975
ENST00000392129
Q9UM00
Show all »
Show » Show » 188 21.2 Yes 2