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HUMAN:CCD40

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) CCDC40 (synonyms: KIAA1640)
Protein Name(s) Coiled-coil domain-containing protein 40
External Links
UniProt Q4G0X9
EMBL AB046860
AK000760
AC087741
AC116025
CH471099
CH471099
BC035251
BC058288
CCDS CCDS42395.1
RefSeq NP_001230271.1
NP_060420.2
XP_005257549.1
UniGene Hs.202542
ProteinModelPortal Q4G0X9
BioGrid 120365
STRING 9606.ENSP00000380679
PhosphoSite Q4G0X9
DMDM 158706471
MaxQB Q4G0X9
PaxDb Q4G0X9
PRIDE Q4G0X9
Ensembl ENST00000269318
ENST00000374876
ENST00000397545
GeneID 55036
KEGG hsa:55036
UCSC uc002jxm.4
uc010dht.3
uc010wub.2
CTD 55036
GeneCards GC17P078010
GeneReviews CCDC40
H-InvDB HIX0014236
HGNC HGNC:26090
HPA HPA022974
MIM 613799
613808
neXtProt NX_Q4G0X9
Orphanet 244
PharmGKB PA142672195
eggNOG NOG138528
GeneTree ENSGT00440000035688
HOVERGEN HBG095564
InParanoid Q4G0X9
OMA TTQAEGQ
PhylomeDB Q4G0X9
TreeFam TF325559
GenomeRNAi 55036
NextBio 58467
PRO PR:Q4G0X9
Proteomes UP000005640
Bgee Q4G0X9
CleanEx HS_CCDC40
ExpressionAtlas Q4G0X9
Genevestigator Q4G0X9
GO GO:0005929
GO:0005737
GO:0070286
GO:0071907
GO:0071910
GO:0035469
GO:0003351
GO:0060287
GO:0001947
GO:0030324
GO:0003356
InterPro IPR013956
Pfam PF08647

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

part_of

GO:0005929

cilium

PMID:27120127[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0030317

flagellated sperm motility

PMID:23255504[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0003356

regulation of cilium beat frequency

PMID:23255504[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0003341

cilium movement

PMID:22499950[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0044458

motile cilium assembly

PMID:23255504[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0036159

inner dynein arm assembly

PMID:23255504[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005930

axoneme

PMID:23255504[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0071910

determination of liver left/right asymmetry

PMID:22693285[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071907

determination of digestive tract left/right asymmetry

PMID:22693285[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0035469

determination of pancreatic left/right asymmetry

PMID:22693285[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0030324

lung development

PMID:22693285[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0003674

molecular_function

GO_REF:0000015

ECO:0000307

no biological data found used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0003356

regulation of cilium beat frequency

PMID:21131974[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

occurs_in:(UBERON:0001707)

Seeded From UniProt

complete

involved_in

GO:0003351

epithelial cilium movement

PMID:21131974[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

occurs_in:(UBERON:0001707)

Seeded From UniProt

complete

involved_in

GO:0001947

heart looping

PMID:22693285[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0070286

axonemal dynein complex assembly

PMID:21131974[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0060287

epithelial cilium movement involved in determination of left/right asymmetry

PMID:21131974[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005929

cilium

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8BI79

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q8BI79

C

Seeded From UniProt

complete

involved_in

GO:0060287

epithelial cilium movement involved in determination of left/right asymmetry

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:2443893
PANTHER:PTN000780552
UniProtKB:Q4G0X9
ZFIN:ZDB-GENE-060503-723

P

Seeded From UniProt

complete

involved_in

GO:0035082

axoneme assembly

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:2443893
PANTHER:PTN000780552

P

Seeded From UniProt

complete

part_of

GO:0005930

axoneme

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000780552
UniProtKB:Q4G0X9

C

Seeded From UniProt

complete

involved_in

GO:0001947

heart looping

PMID:21873635[6]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000417959
UniProtKB:Q4G0X9

P

Seeded From UniProt

complete

involved_in

GO:0061512

protein localization to cilium

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q8BI79
ensembl:ENSMUSP00000039463

P

Seeded From UniProt

complete

involved_in

GO:0060287

epithelial cilium movement involved in determination of left/right asymmetry

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q8BI79
ensembl:ENSMUSP00000039463

P

Seeded From UniProt

complete

involved_in

GO:0035082

axoneme assembly

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q8BI79
ensembl:ENSMUSP00000039463

P

Seeded From UniProt

complete

part_of

GO:0031514

motile cilium

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q8BI79
ensembl:ENSMUSP00000039463

C

Seeded From UniProt

complete

involved_in

GO:0030324

lung development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q8BI79
ensembl:ENSMUSP00000039463

P

Seeded From UniProt

complete

part_of

GO:0005929

cilium

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q8BI79
ensembl:ENSMUSP00000039463

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q8BI79
ensembl:ENSMUSP00000039463

C

Seeded From UniProt

complete

involved_in

GO:0003341

cilium movement

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q8BI79
ensembl:ENSMUSP00000039463

P

Seeded From UniProt

complete

involved_in

GO:0035082

axoneme assembly

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR037386

P

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0963
UniProtKB-SubCell:SL-0086

C

Seeded From UniProt

complete

part_of

GO:0005929

cilium

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0969
UniProtKB-SubCell:SL-0066

C

Seeded From UniProt

complete

part_of

GO:0042995

cell projection

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0966

C

Seeded From UniProt

complete

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ Jeanson, L et al. (2016) Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization. Hum. Mutat. 37 776-85 PubMed GONUTS page
  2. ↑ 2.0 2.1 2.2 2.3 2.4 Antony, D et al. (2013) Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum. Mutat. 34 462-72 PubMed GONUTS page
  3. ↑ Nakhleh, N et al. (2012) High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Circulation 125 2232-42 PubMed GONUTS page
  4. ↑ 4.0 4.1 4.2 4.3 4.4 Blanchon, S et al. (2012) Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. J. Med. Genet. 49 410-6 PubMed GONUTS page
  5. ↑ 5.0 5.1 5.2 5.3 Becker-Heck, A et al. (2011) The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat. Genet. 43 79-84 PubMed GONUTS page
  6. ↑ 6.0 6.1 6.2 6.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
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