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HUMAN:CC103

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) CCDC103
Protein Name(s) Coiled-coil domain-containing protein 103
External Links
UniProt Q8IW40
EMBL AK289760
DA749894
AC015936
BC041060
CCDS CCDS11490.1
CCDS58554.1
RefSeq NP_001245324.1
NP_001245325.1
NP_001245326.1
NP_998772.1
UniGene Hs.743398
ProteinModelPortal Q8IW40
PhosphoSite Q8IW40
DMDM 74728126
MaxQB Q8IW40
PaxDb Q8IW40
PRIDE Q8IW40
DNASU 388389
Ensembl ENST00000410006
ENST00000410027
ENST00000417826
GeneID 388389
KEGG hsa:388389
UCSC uc002iho.4
CTD 388389
GeneCards GC17P042978
GeneReviews CCDC103
HGNC HGNC:32700
HPA HPA043131
MIM 614677
614679
neXtProt NX_Q8IW40
Orphanet 244
PharmGKB PA145008596
eggNOG NOG43148
GeneTree ENSGT00390000004038
HOGENOM HOG000231454
HOVERGEN HBG080287
InParanoid Q8IW40
OMA EQRVASY
PhylomeDB Q8IW40
TreeFam TF324467
ChiTaRS CCDC103
GenomeRNAi 388389
NextBio 102019
PRO PR:Q8IW40
Proteomes UP000005640
Bgee Q8IW40
CleanEx HS_CCDC103
ExpressionAtlas Q8IW40
Genevestigator Q8IW40
GO GO:0005930
GO:0005737
GO:0031514
GO:0042803
GO:0070286
GO:0030030
GO:0003341
GO:0071907
GO:0060287
GO:0001947
GO:0036159
GO:0036158
InterPro IPR025986
Pfam PF13877

Annotations

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

involved_in

GO:0071907

determination of digestive tract left/right asymmetry

PMID:22581229[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0070286

axonemal dynein complex assembly

PMID:22581229[1]

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:22581229[1]

ECO:0000305

curator inference used in manual assertion

GO:0001947
GO:0003341

P

Seeded From UniProt

complete

enables

GO:0042803

protein homodimerization activity

PMID:22581229[1]

ECO:0000314

direct assay evidence used in manual assertion

F

occurs_in:(CL:0002368)

Seeded From UniProt

complete

involved_in

GO:0036159

inner dynein arm assembly

PMID:22581229[1]

ECO:0000316

genetic interaction evidence used in manual assertion

UniProtKB:Q6DGB6

P

Seeded From UniProt

complete

involved_in

GO:0036158

outer dynein arm assembly

PMID:22581229[1]

ECO:0000316

genetic interaction evidence used in manual assertion

UniProtKB:Q6DGB6

P

Seeded From UniProt

complete

part_of

GO:0005930

axoneme

PMID:22581229[1]

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q6DGB6

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

PMID:22581229[1]

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q6DGB6

C

Seeded From UniProt

complete

involved_in

GO:0003341

cilium movement

PMID:22581229[1]

ECO:0000316

genetic interaction evidence used in manual assertion

UniProtKB:Q6DGB6

P

Seeded From UniProt

complete

involved_in

GO:0001947

heart looping

PMID:22581229[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0031514

motile cilium

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0282
UniProtKB-SubCell:SL-0117

C

Seeded From UniProt

complete

involved_in

GO:0030030

cell projection organization

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0970

P

Seeded From UniProt

complete

part_of

GO:0005929

cilium

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0969

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

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

Notes

References

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

  1. 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 Panizzi, JR et al. (2012) CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat. Genet. 44 714-9 PubMed GONUTS page