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CCDC40

CANCER ATLAS

Gene description

 Coiled-coil domain containing 40

Protein class

 Disease related genes, Predicted intracellular proteins

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA022974

GENE INFORMATION

Gene name

 CCDC40 (HGNC Symbol)

Synonyms

 CILD15, FAP172, FLJ20753, FLJ32021, KIAA1640

Description

 Coiled-coil domain containing 40 (HGNC Symbol)

Entrez gene summary

 This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Chromosome

 17

Cytoband

 q25.3

Chromosome location (bp)

 80036632 - 80100613

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000141519 (version 83.38)

Entrez gene

 55036

UniProt

 Q4G0X9 (UniProt - Evidence at transcript level)

neXtProt

 NX_Q4G0X9

Antibodypedia

 CCDC40 antibodies

PROTEIN BROWSER
CCDC40-001
CCDC40-002
CCDC40-003
CCDC40-007
CCDC40-009
CCDC40-012
CCDC40-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CCDC40-001
ENSP00000380679
ENST00000397545
Q4G0X9 [Direct mapping]
Coiled-coil domain-containing protein 40
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0001947 [heart looping]
GO:0003341 [cilium movement]
GO:0003351 [epithelial cilium movement]
GO:0003356 [regulation of cilium beat frequency]
GO:0003674 [molecular_function]
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0005930 [axoneme]
GO:0030317 [sperm motility]
GO:0030324 [lung development]
GO:0035469 [determination of pancreatic left/right asymmetry]
GO:0036159 [inner dynein arm assembly]
GO:0044458 [motile cilium assembly]
GO:0060287 [epithelial cilium movement involved in determination of left/right asymmetry]
GO:0070286 [axonemal dynein complex assembly]
GO:0071907 [determination of digestive tract left/right asymmetry]
GO:0071910 [determination of liver left/right asymmetry]
Show all
 1142 aa
130.1 kDa 		No 0
CCDC40-002
ENSP00000269318
ENST00000269318
Q4G0X9 [Direct mapping]
Coiled-coil domain-containing protein 40
Show all
Predicted intracellular proteins
Disease related genes
Show all
GO:0001947 [heart looping]
GO:0003341 [cilium movement]
GO:0003351 [epithelial cilium movement]
GO:0003356 [regulation of cilium beat frequency]
GO:0003674 [molecular_function]
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0005930 [axoneme]
GO:0030317 [sperm motility]
GO:0030324 [lung development]
GO:0035469 [determination of pancreatic left/right asymmetry]
GO:0036159 [inner dynein arm assembly]
GO:0044458 [motile cilium assembly]
GO:0060287 [epithelial cilium movement involved in determination of left/right asymmetry]
GO:0070286 [axonemal dynein complex assembly]
GO:0071907 [determination of digestive tract left/right asymmetry]
GO:0071910 [determination of liver left/right asymmetry]
Show all
 579 aa
64 kDa 		No 0
CCDC40-003
ENSP00000364010
ENST00000374876
Q4G0X9 [Direct mapping]
Coiled-coil domain-containing protein 40
Show all
Predicted intracellular proteins
Disease related genes
Show all
GO:0001947 [heart looping]
GO:0003341 [cilium movement]
GO:0003351 [epithelial cilium movement]
GO:0003356 [regulation of cilium beat frequency]
GO:0003674 [molecular_function]
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0005930 [axoneme]
GO:0030317 [sperm motility]
GO:0030324 [lung development]
GO:0035469 [determination of pancreatic left/right asymmetry]
GO:0036159 [inner dynein arm assembly]
GO:0044458 [motile cilium assembly]
GO:0060287 [epithelial cilium movement involved in determination of left/right asymmetry]
GO:0070286 [axonemal dynein complex assembly]
GO:0071907 [determination of digestive tract left/right asymmetry]
GO:0071910 [determination of liver left/right asymmetry]
Show all
 478 aa
52.3 kDa 		No 0
CCDC40-007
ENSP00000460002
ENST00000574099
I3L2X6 [Direct mapping]
Coiled-coil domain-containing protein 40
Show all
Predicted intracellular proteins
Show all
 126 aa
13.5 kDa 		No 0
CCDC40-009
ENSP00000459489
ENST00000576033
I3L292 [Direct mapping]
Coiled-coil domain-containing protein 40
Show all
Predicted intracellular proteins
Show all
 99 aa
10.7 kDa 		No 0
CCDC40-012
ENSP00000461034
ENST00000571028
I3L477 [Direct mapping]
Coiled-coil domain-containing protein 40
Show all
Predicted intracellular proteins
Show all
 83 aa
9.3 kDa 		No 0
CCDC40-201
ENSP00000364011
ENST00000374877
Q4G0X9 [Direct mapping]
Coiled-coil domain-containing protein 40
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0001947 [heart looping]
GO:0003341 [cilium movement]
GO:0003351 [epithelial cilium movement]
GO:0003356 [regulation of cilium beat frequency]
GO:0003674 [molecular_function]
GO:0005737 [cytoplasm]
GO:0005929 [cilium]
GO:0005930 [axoneme]
GO:0030317 [sperm motility]
GO:0030324 [lung development]
GO:0035469 [determination of pancreatic left/right asymmetry]
GO:0036159 [inner dynein arm assembly]
GO:0044458 [motile cilium assembly]
GO:0060287 [epithelial cilium movement involved in determination of left/right asymmetry]
GO:0070286 [axonemal dynein complex assembly]
GO:0071907 [determination of digestive tract left/right asymmetry]
GO:0071910 [determination of liver left/right asymmetry]
Show all
 1030 aa
116.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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