Seroatlas · Human Serome Atlas

CCDC47

PAT complex subunit CCDC47

Also known as: CCD47_HUMAN, GK001

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

Protein identityUniProt · HPA

UniProt accession: Q96A33
Gene: CCDC47
Ensembl: ENSG00000108588
Chromosome: 17
Canonical length: 483 aa
Protein class: Disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location: Endoplasmic reticulum

OverviewNCBI Gene

Enables protein folding chaperone and ribosome binding activity. Involved in ERAD pathway; endoplasmic reticulum calcium ion homeostasis; and multi-pass transmembrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of multi-pass translocon complex and protein folding chaperone complex. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

483 residues, UniProt reviewed canonical sequence.

>Q96A33|CCDC47
     1  MKAFHTFCVV LLVFGSVSEA KFDDFEDEED IVEYDDNDFA EFEDVMEDSV TESPQRVIIT
    61  EDDEDETTVE LEGQDENQEG DFEDADTQEG DTESEPYDDE EFEGYEDKPD TSSSKNKDPI
   121  TIVDVPAHLQ NSWESYYLEI LMVTGLLAYI MNYIIGKNKN SRLAQAWFNT HRELLESNFT
   181  LVGDDGTNKE ATSTGKLNQE NEHIYNLWCS GRVCCEGMLI QLRFLKRQDL LNVLARMMRP
   241  VSDQVQIKVT MNDEDMDTYV FAVGTRKALV RLQKEMQDLS EFCSDKPKSG AKYGLPDSLA
   301  ILSEMGEVTD GMMDTKMVHF LTHYADKIES VHFSDQFSGP KIMQEEGQPL KLPDTKRTLL
   361  FTFNVPGSGN TYPKDMEALL PLMNMVIYSI DKAKKFRLNR EGKQKADKNR ARVEENFLKL
   421  THVQRQEAAQ SRREEKKRAE KERIMNEEDP EKQRRLEEAA LRREQKKLEK KQMKMKQIKV
   481  KAM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CCDC47 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: Other membrane
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.42
Highest tissue expression: 101 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 101 nTPM
liver: 93 nTPM
parathyroid gland: 80 nTPM
duodenum: 79 nTPM
choroid plexus: 79 nTPM
tongue: 78 nTPM

Single-cell type

endometrial glandular cells: 171 nCPM
endometrial luminal cells: 130 nCPM
alveolar cells type 1: 128 nCPM
alveolar cells type 2: 127 nCPM
pancreatic duct cells: 118 nCPM
ocular epithelial cells: 112 nCPM

Immune cell

myeloid DC: 81 nTPM
eosinophil: 74 nTPM
non-classical monocyte: 65 nTPM
intermediate monocyte: 60 nTPM
classical monocyte: 58 nTPM
plasmacytoid DC: 54 nTPM

Brain region

choroid plexus: 99 nTPM
white matter: 70 nTPM
basal ganglia: 70 nTPM
spinal cord: 64 nTPM
cerebral cortex: 63 nTPM
medulla oblongata: 63 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CCDC47.

Disease | AllUniProt

Conditions CCDC47 is implicated in, by any mechanism.

Trichohepatoneurodevelopmental syndrome (THNS) MIM:618268

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 85 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Trichohepatoneurodevelopmental syndrome
Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair

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): 0.88
gnomAD pLI: 0
gnomAD missense Z: 1.04
DepMap mean gene effect: -0.28
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

PAT complex subunit CCDC47
PAT complex subunit CCDC47

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CCDC47 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CCDC47 as an antibody target. Whether an autoantibody or antibody against CCDC47 could matter depends on whether native CCDC47 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CCDC47 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 CCDC47 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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