CFAP57

GENE INFORMATION

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Gene name

CFAP57 (HGNC Symbol)

Synonyms

FLJ32000, WDR65

Description

Cilia and flagella associated protein 57 (HGNC Symbol)

Entrez gene summary

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Chromosome

1

Cytoband

p34.2

Chromosome location (bp)

43172149 - 43254358

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000243710 (version 78.38)

Entrez gene

149465

UniProt

Q96MR6 (UniProt - Evidence at protein level)

neXtProt

NX_Q96MR6

Antibodypedia

CFAP57 antibodies
 

PROTEIN VIEW

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CFAP57-001
 
CFAP57-002
 
CFAP57-004
 
CFAP57-201
 
 
 
 
 

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)

CFAP57-001 ENSP00000435310
ENST00000528956
Q96MR6
Show all »
Show » Show » 698 78.2 No 1
CFAP57-002 ENSP00000361570
ENST00000372492
Q96MR6
Show all »
Show » Show » 1250 145 No 0
CFAP57-004 ENSP00000434133
ENST00000529956
E9PRV3
Show all »
Show » Show » 166 19.1 No 0
CFAP57-201 ENSP00000479773
ENST00000610710
E9PRV3
Show all »
Show » Show » 1283 149 No 0