APCDD1 - APC down-regulated 1 Gene

Homo sapiens

Also known as HHS; HTS; B7323; HYPT1; DRAPC1; FP7019

Gene ID: 147495 | Gene type: protein coding

About APCDD1

Cytogenetic location: 18p11.22 Genomic coordinates (GRCh38): 18:10,454,635-10,489,949 (from NCBI)

This gene has 6 transcripts (splice variants), 122 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in skin (RPKM 30.0), fat (RPKM 14.2) and 13 other tissues.

Summary

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]

APCDD1 Products(1)

mRNA	Protein	Name
NM_153000.5	NP_694545.1	protein APCDD1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables Wnt-protein binding	IDA IDA: Inferred from direct assay	20393562	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	20393562	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20393562	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in hair follicle development	IMP IMP: Inferred from mutant phenotype	20393562	GOA
involved in negative regulation of Wnt signaling pathway	IDA IDA: Inferred from direct assay	20393562	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	20393562	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

APCDD1 Protein Structure

APCDDC

0
100
200
300
400
514 a.a.

Protein Preferred Names

Protein Names

protein APCDD1

adenomatosis polyposis coli down-regulated 1 protein

Recombinant APCDD1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76154	APCDD1 Protein, Human (HEK293, Fc)	Q8J025/NP_694545.1 (L27-G486)	≥95%

Related Diseases

Diseases

Alias

Hypotrichosis 1

HYPT1	Hhs
Hts	Hypotrichosis Simplex
Hypotrichosis Simplex, Generalized, Hereditary	Hereditary Generalized Hypotrichosis Simplex
Generalized Hypothricosis Simplex	Hypotrichosis Simplex Hereditary
Hypotrichosis, Type 1

Hypotrichosis Simplex

Hereditary Hypotrichosis Simplex

Hhs

Hypotrichosis

Periosteal Chondrosarcoma

Juxtacortical Chondrosarcoma

Solitary Median Maxillary Central Incisor

SMMCI	Fused Incisors
Single Upper Central Incisor	Single Central Maxillary Incisor
Single Median Maxillary Central Incisor	Solitary Median Maxillary Central Incisor Syndrome
Incisors Fused	Incisors, Fused

Norrie Disease

Atrophia Bulborum Hereditaria	Episkopi Blindness
Pseudoglioma	ND
Norrie-Warburg Disease	Anderson-Warburg Syndrome
Fetal Iritis Syndrome	Norrie Syndrome
Norrie-Warburg Syndrome	Ndp
Congenital Progressive Oculo-Acoustico-Cerebral Degeneration	Norrie'S Disease
Oligophrenia Microphthalmus	Pseudoglioma Congenita
Whitnall-Norman Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00811	APCDD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS00812	APCDD1L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	APCDD1	VGNC	VGNC:26007
Canis familiaris	APCDD1	VGNC	VGNC:37980
Macaca mulatta	APCDD1	VGNC	VGNC:104215
Felis catus	APCDD1	VGNC	VGNC:59846
Rattus norvegicus	APCDD1	RGD	RGD:1589962
Mus musculus	APCDD1	MGD	MGI:3513977
Others	APCDD1	NCBI

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