APCDD1 APC down-regulated 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: APCDD1provided by HGNC
Official Full Name: APC down-regulated 1provided by HGNC
Primary source: HGNC:HGNC:15718
See related: Ensembl:ENSG00000154856 MIM:607479; AllianceGenome:HGNC:15718
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HHS; HTS; B7323; HYPT1; DRAPC1; FP7019
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]
Expression: Biased expression in skin (RPKM 30.0), fat (RPKM 14.2) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18p11.22

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (10454635..10489949)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (10616628..10652095)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (10454632..10489946)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer.
Title: Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer.
Through integrative analysis, we identify MEIS1 as a super-enhancer-driven oncogene, which co-operates with EWS-FLI1 in transcriptional regulation, and plays a key pro-survival role in Ewing sarcoma. Moreover, APCDD1, another super-enhancer-associated gene, acting as a downstream target of both MEIS1 and EWS-FLI1, is also characterized as a novel tumor-promoting factor in this malignancy
Title: Super-enhancer-associated MEIS1 promotes transcriptional dysregulation in Ewing sarcoma in co-operation with EWS-FLI1.
Thus, we have provided the first evidence that APCDD1 expression is epigenetically silenced in OS, which may facilitate invasion and metastasis of OS cells.
Title: Epigenetic silencing of the Wnt antagonist APCDD1 by promoter DNA hyper-methylation contributes to osteosarcoma cell invasion and metastasis.
these novel findings suggest that APCDD1 positively regulates adipogenic differentiation and that its down-regulation by miR-130 during diet-induced obesity may contribute to impaired adipogenic differentiation and obesity-related metabolic disease.
Title: A novel role for the Wnt inhibitor APCDD1 in adipocyte differentiation: Implications for diet-induced obesity.
This study demonstrated a critical role for Apcdd1 in OL differentiation after white matter injury that points to a potential therapeutic approach for inhibiting Wnt signaling in these disorders.
Title: Apcdd1 stimulates oligodendrocyte differentiation after white matter injury.
Unusual role of APCDD1 in dental follicle cells during osteogenic differentiation. APCDD1 sustains the expression and activation of beta-catenin.
Title: The WNT inhibitor APCDD1 sustains the expression of β-catenin during the osteogenic differentiation of human dental follicle cells.
mutation in the APCDD1 gene is responsible for hereditary hypotrichosis simplex in a large Chinese family.
Title: A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family.
Data show that the methylated VAPA-APCDD1 DNA in maternal plasma is predominantly derived from the fetus, and this novel fetal epigenetic marker in maternal plasma is useful for the noninvasive detection of fetal trisomy 18.
Title: Systematic identification of placental epigenetic signatures for the noninvasive prenatal detection of Edwards syndrome.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
APCDD1 is a novel inhibitor of the Wnt signalling pathway with an essential role in human hair growth
Title: APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypotrichosis 1 MedGen: C4551976 OMIM: 605389 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. EBI GWAS Catalog EBI GWAS CatalogPubMed
The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D18S53 (e-PCR), detects polymorphism
- UniSTS:55077

D18S1376 (e-PCR), detects polymorphism
- UniSTS:72775

D18S453 (e-PCR), detects polymorphism
- UniSTS:43862

WI-11680 (e-PCR)
- UniSTS:7811

D18S986 (e-PCR)
- UniSTS:81092

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Wnt-protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables Wnt-protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in astrocyte cell migration	IEA Inferred from Electronic Annotation more info
involved_in hair follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein APCDD1

Names: adenomatosis polyposis coli down-regulated 1 protein; hypoptrichosis simplex

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.