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CCDC40

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GENERAL INFORMATION

Gene name

 CCDC40

Gene description

 Coiled-coil domain containing 40

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Localized to the microtubules.

RNA cell category

 Cell line enhanced (SCLC-21H)

Protein evidence

 Evidence at protein level

Main location

 Localized to the Microtubules (approved)

DATA RELIABILITY

Reliability score

 Approved based on 1 antibody.
HPA022974
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (SCLC-21H)
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to the microtubules.

Main location

 Microtubules (approved)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA022974 A-431 Microtubules
HPA022974 U-2 OS Microtubules
HPA022974 U-251 MG Microtubules

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
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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
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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.