TCOF1

GENE INFORMATION

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Gene name

TCOF1 (HGNC Symbol)

Synonyms

TCS, treacle

Description

Treacher Collins-Franceschetti syndrome 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

Chromosome

5

Cytoband

Chromosome location (bp)

150357639 - 150400308

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000070814 (version 78.38)

Entrez gene

6949

UniProt

Q13428 (UniProt - Evidence at protein level)

neXtProt

NX_Q13428

Antibodypedia

TCOF1 antibodies
 

PROTEIN VIEW

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TCOF1-001
 
TCOF1-002
 
TCOF1-003
 
TCOF1-004
 
TCOF1-008
 
TCOF1-010
 
TCOF1-011
 
TCOF1-014
 
TCOF1-015
 
TCOF1-201
 
 
 
 
 

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)

TCOF1-001 ENSP00000325223
ENST00000323668
Q13428
Show all »
Show » Show » 1411 144.3 No 0
TCOF1-002 ENSP00000406888
ENST00000439160
Q13428
Show all »
Show » Show » 1451 148.4 No 0
TCOF1-003 ENSP00000409944
ENST00000445265
Q13428
Show all »
Show » Show » 1412 144.4 No 0
TCOF1-004 ENSP00000377811
ENST00000394269
Q13428
Show all »
Show » Show » 958 96.8 No 0
TCOF1-008 ENSP00000427484
ENST00000513346
E7ETY2
Show all »
Show » Show » 1488 152.3 No 0
TCOF1-010 ENSP00000422567
ENST00000513538
Show » 67 6.8 No 0
TCOF1-011 ENSP00000426471
ENST00000515516
H0YA99
Show all »
Show » 188 21.1 No 0
TCOF1-014 ENSP00000421655
ENST00000504761
Q13428
Show all »
Show » Show » 1488 152.1 No 0
TCOF1-015 ENSP00000390717
ENST00000427724
J3KQ96
Show all »
Show » Show » 1414 144.1 No 0
TCOF1-201 ENSP00000367028
ENST00000377797
Q13428
Show all »
Show » Show » 1488 152.1 No 0