background:
APCDD1 is a novel protein that has been shown to be a target of Wnt/beta catenin signaling pathway in cancer cell lines. APCDD1 is overexpressed in colorectal carcinogenesis and is deregulated in CTNNB1 mutated Wilms tumors.
[FUNCTION] Probably plays a role in colorectal tumorigenesis. May be a developmental target gene of the Wnt/Beta-catenin pathway.
[SUBCELLULAR LOCATION] Membrane; Single-pass type I membrane protein (Potential).
[TISSUE SPECIFICITY] Abundantly expressed in heart, pancreas, prostate and ovary. Moderately expressed in lung, liver, kidney, spleen, thymus, colon and peripheral lymphocytes.
[INDUCTION] Transcriptionally regulated by the CTNNB1/TF7L2complex.
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.
Subunit:
Homodimer. Interacts with LRP5 and WNT3A.
Subcellular Location:
Cell membrane; Single-pass type I membrane protein.
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).
Post-translational modifications:
N-Glycosylated.
DISEASE:
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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the APCDD1 family.
Database links:
Entrez Gene: 147495 Human
Entrez Gene: 494504 Mouse
Omim: 607479 Human
SwissProt: Q8J025 Human
SwissProt: Q3U128 Mouse
Unigene: 293274 Human
Unigene: 391102 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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