APCDD1
Protein APCDD1
Also known as: APCD1_HUMAN, B7323
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8J025
- Gene
- APCDD1
- Ensembl
- ENSG00000154856
- Chromosome
- 18
- Canonical length
- 514 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]
Canonical amino-acid sequenceUniProt
514 residues, UniProt reviewed canonical sequence.
>Q8J025|APCDD1
1 MSWPRRLLLR YLFPALLLHG LGEGSALLHP DSRSHPRSLE KSAWRAFKES QCHHMLKHLH
61 NGARITVQMP PTIEGHWVST GCEVRSGPEF ITRSYRFYHN NTFKAYQFYY GSNRCTNPTY
121 TLIIRGKIRL RQASWIIRGG TEADYQLHNV QVICHTEAVA EKLGQQVNRT CPGFLADGGP
181 WVQDVAYDLW REENGCECTK AVNFAMHELQ LIRVEKQYLH HNLDHLVEEL FLGDIHTDAT
241 QRMFYRPSSY QPPLQNAKNH DHACIACRII YRSDEHHPPI LPPKADLTIG LHGEWVSQRC
301 EVRPEVLFLT RHFIFHDNNN TWEGHYYHYS DPVCKHPTFS IYARGRYSRG VLSSRVMGGT
361 EFVFKVNHMK VTPMDAATAS LLNVFNGNEC GAEGSWQVGI QQDVTHTNGC VALGIKLPHT
421 EYEIFKMEQD ARGRYLLFNG QRPSDGSSPD RPEKRATSYQ MPLVQCASSS PRAEDLAEDS
481 GSSLYGRAPG RHTWSLLLAA LACLVPLLHW NIRRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against APCDD1 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 123 nTPM
Expression across tissuesHPA
Tissue
- skin: 123 nTPM
- adipose tissue: 49 nTPM
- urinary bladder: 34 nTPM
- vagina: 33 nTPM
- cerebral cortex: 33 nTPM
- cervix: 33 nTPM
Single-cell type
- endometrial stromal cells: 475 nCPM
- decidual stromal cells: 253 nCPM
- oligodendrocyte progenitor cells: 193 nCPM
- adipocytes: 178 nCPM
- astrocytes: 177 nCPM
- fibroblasts: 137 nCPM
Immune cell
- basophil: 0.9 nTPM
- plasmacytoid DC: 0.9 nTPM
- classical monocyte: 0.2 nTPM
- total PBMC: 0.2 nTPM
- naive B-cell: 0.1 nTPM
- neutrophil: 0.1 nTPM
Brain region
- hippocampal formation: 66 nTPM
- midbrain: 62 nTPM
- cerebral cortex: 58 nTPM
- thalamus: 55 nTPM
- amygdala: 54 nTPM
- medulla oblongata: 54 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about APCDD1.
Disease | AllUniProt
Conditions APCDD1 is implicated in, by any mechanism.
- Hypotrichosis 1 (HYPT1) MIM:605389
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 175 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hypotrichosis 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)
- 0.68
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 0.48
- DepMap mean gene effect
- 0.14
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- astrocyte cell migration
- hair follicle development
- negative regulation of Wnt signaling pathway
- regulation of odontogenesis of dentin-containing tooth
- Wnt signaling pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of APCDD1 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 APCDD1 as an antibody target. Whether an autoantibody or antibody against APCDD1 could matter depends on whether native APCDD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
APCDD1 is annotated at the cell surface, where native APCDD1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label APCDD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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