InnateDB Protein
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IDBP-898.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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APCDD1
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Protein Name
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adenomatosis polyposis coli down-regulated 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000347433
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InnateDB Gene
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IDBG-896 (APCDD1)
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Protein Structure
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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}.
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Subcellular Localization |
Cell membrane {ECO:0000269PubMed:20393562}; Single-pass type I membrane protein {ECO:0000269PubMed:20393562}.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8J025
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PhosphoSite |
PhosphoSite-Q8J025
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
147495
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UniGene |
Hs.702756
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RefSeq |
NP_694545
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HUGO |
HGNC:15718
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OMIM |
607479
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CCDS |
CCDS11849
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HPRD |
09595
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IMGT |
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EMBL |
AB056722
AB104887
AF461902
AK300743
AK303076
BC053324
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GenPept |
AAH53324
AAQ04816
BAC15563
BAC65165
BAG62412
BAG64192
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