Homo sapiens Protein: APCDD1
Summary
InnateDB Protein IDBP-898.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol APCDD1
Protein Name adenomatosis polyposis coli down-regulated 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000347433
InnateDB Gene IDBG-896 (APCDD1)
Protein Structure
UniProt Annotation
Function Negative regulator of the Wnt signaling pathway. Inhibits Wnt signaling in a cell-autonomous manner and functions upstream of beta-catenin. May act via its interaction with Wnt and LRP proteins. May play a role in colorectal tumorigenesis. {ECO:0000269PubMed:12384519, ECO:0000269PubMed:20393562}.
Subcellular Localization Cell membrane {ECO:0000269PubMed:20393562}; Single-pass type I membrane protein {ECO:0000269PubMed:20393562}.
Disease Associations Hypotrichosis 1 (HYPT1) [MIM:605389]: A rare form of non- syndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. {ECO:0000269PubMed:20393562}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Abundantly expressed in heart, pancreas, prostate and ovary. Moderately expressed in lung, liver, kidney, spleen, thymus, colon and peripheral lymphocytes. Abundantly expressed in both the epidermal and dermal compartments of the hair follicle. Present in scalp skin Highly expressed in the hair follicle dermal papilla, the matrix, and the hair shaft (at protein level). {ECO:0000269PubMed:12384519, ECO:0000269PubMed:20393562}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0017147 Wnt-protein binding
Biological Process
GO:0001942 hair follicle development
GO:0016055 Wnt signaling pathway
GO:0030178 negative regulation of Wnt signaling pathway
GO:0043615 astrocyte cell migration
Cellular Component
GO:0005887 integral component of plasma membrane
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8J025
PhosphoSite PhosphoSite-Q8J025
TrEMBL
UniProt Splice Variant
Entrez Gene 147495
UniGene Hs.702756
RefSeq NP_694545
HUGO HGNC:15718
OMIM 607479
CCDS CCDS11849
HPRD 09595
IMGT
EMBL AB056722 AB104887 AF461902 AK300743 AK303076 BC053324
GenPept AAH53324 AAQ04816 BAC15563 BAC65165 BAG62412 BAG64192