Seroatlas · Human Serome Atlas

CCDC40

Coiled-coil domain-containing protein 40

Also known as: CCD40_HUMAN, CFAP172, CILD15, FAP172, FLJ20753, FLJ32021, KIAA1640

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q4G0X9
Gene: CCDC40
Ensembl: ENSG00000141519
Chromosome: 17
Canonical length: 1142 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Microtubules,Cytokinetic bridge,Primary cilium,Cytosol,Mid piece

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1142 residues, UniProt reviewed canonical sequence.

>Q4G0X9|CCDC40
     1  MAEPGGAAGR SHPEDGSASE GEKEGNNESH MVSPPEKDDG QKGEEAVGST EHPEEVTTQA
    61  EAAIEEGEVE TEGEAAVEGE EEAVSYGDAE SEEEYYYTET SSPEGQISAA DTTYPYFSPP
   121  QELPGEEAYD SVSGEAGLQG FQQEATGPPE SRERRVTSPE PSHGVLGPSE QMGQVTSGPA
   181  VGRLTGSTEE PQGQVLPMGV QHRFRLSHGS DIESSDLEEF VSQEPVIPPG VPDAHPREGD
   241  LPVFQDQIQQ PSTEEGAMAE RVESEGSDEE AEDEGSQLVV LDPDHPLMVR FQAALKNYLN
   301  RQIEKLKLDL QELVVATKQS RAQRQELGVN LYEVQQHLVH LQKLLEKSHD RHAMASSERR
   361  QKEEELQAAR ALYTKTCAAA NEERKKLAAL QTEMENLALH LFYMQNIDQD MRDDIRVMTQ
   421  VVKKAETERI RAEIEKKKQD LYVDQLTTRA QQLEEDIALF EAQYLAQAED TRILRKAVSE
   481  ACTEIDAISV EKRRIMQQWA SSLVGMKHRD EAHRAVLEAL RGCQHQAKST DGEIEAYKKS
   541  IMKEEEKNEK LASILNRTET EATLLQKLTT QCLTKQVALQ SQFNTYRLTL QDTEDALSQD
   601  QLEQMILTEE LQAIRQAIQG ELELRRKTDA AIREKLQEHM TSNKTTKYFN QLILRLQKEK
   661  TNMMTHLSKI NGDIAQTTLD ITHTSSRLDA HQKTLVELDQ DVKKVNELIT NSQSEISRRT
   721  ILIERKQGLI NFLNKQLERM VSELGGEEVG PLELEIKRLS KLIDEHDGKA VQAQVTWLRL
   781  QQEMVKVTQE QEEQLASLDA SKKELHIMEQ KKLRVESKIE QEKKEQKEIE HHMKDLDNDL
   841  KKLNMLMNKN RCSSEELEQN NRVTENEFVR SLKASERETI KMQDKLNQLS EEKATLLNQL
   901  VEAEHQIMLW EKKIQLAKEM RSSVDSEIGQ TEIRAMKGEI HRMKVRLGQL LKQQEKMIRA
   961  MELAVARRET VTTQAEGQRK MDRKALTRTD FHHKQLELRR KIRDVRKATD ECTKTVLELE
  1021  ETQRNVSSSL LEKQEKLSVI QADFDTLEAD LTRLGALKRQ NLSEIVALQT RLKHLQAVKE
  1081  GRYVFLFRSK QSLVLERQRL DKRLALIATI LDRVRDEYPQ FQEALHKVSQ MIANKLESPG
  1141  PS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CCDC40 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.53
Highest tissue expression: 14 nTPM

Expression across tissuesHPA

Tissue

fallopian tube: 14 nTPM
choroid plexus: 14 nTPM
testis: 7.9 nTPM
kidney: 7.1 nTPM
pituitary gland: 6.4 nTPM
retina: 5.2 nTPM

Single-cell type

respiratory ciliated cells: 302 nCPM
ependymal cells: 299 nCPM
choroid plexus epithelial cells: 238 nCPM
fallopian tube ciliated cells: 213 nCPM
endometrial ciliated cells: 190 nCPM
epididymal efferent duct ciliated cells: 153 nCPM

Immune cell

basophil: 0.4 nTPM
neutrophil: 0.3 nTPM
MAIT T-cell: 0.2 nTPM
memory B-cell: 0.1 nTPM
naive B-cell: 0.1 nTPM
NK-cell: 0.1 nTPM

Brain region

choroid plexus: 72 nTPM
midbrain: 30 nTPM
medulla oblongata: 23 nTPM
thalamus: 17 nTPM
hypothalamus: 17 nTPM
spinal cord: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CCDC40.

Disease | AllUniProt

Conditions CCDC40 is implicated in, by any mechanism.

Ciliary dyskinesia, primary, 15 (CILD15) MIM:613808

Disease | GeneticClinVar

110 pathogenic / likely-pathogenic of 1,189 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Primary ciliary dyskinesia
Primary ciliary dyskinesia 15
CCDC40-related disorder
Kartagener syndrome
Thyroid cancer, nonmedullary, 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.85
gnomAD pLI: 0
gnomAD missense Z: -0.18
DepMap mean gene effect: -0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Coiled-coil domain-containing protein 40
BRE1 E3 ubiquitin ligase

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CCDC40 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

CENPH

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CCDC40 as an antibody target. Whether an autoantibody or antibody against CCDC40 could matter depends on whether native CCDC40 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CCDC40 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CCDC40 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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