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

Gene ID: 147495, updated on 24-Nov-2020

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
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

Genomic context

See APCDD1 in Genome Data Viewer
Location:
18p11.22
Exon count:
6
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (10454635..10489949)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (10454625..10488698)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371989 Neighboring gene uncharacterized LOC105371988 Neighboring gene long intergenic non-protein coding RNA 1254 Neighboring gene NSF attachment protein gamma Neighboring gene uncharacterized LOC105371990

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.
GeneReviews: Not available
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
GeneReviews: Not available
Hypotrichosis 1
MedGen: C4551976 OMIM: 605389 GeneReviews: Not available
Compare labs
The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Wnt-protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Wnt-protein binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
astrocyte cell migration IEA
Inferred from Electronic Annotation
more info
 
hair follicle development IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
regulation of odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein APCDD1
Names
adenomatosis polyposis coli down-regulated 1 protein
hypoptrichosis simplex

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_027685.1 RefSeqGene

    Range
    5008..40322
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_153000.5NP_694545.1  protein APCDD1 precursor

    See identical proteins and their annotated locations for NP_694545.1

    Status: REVIEWED

    Source sequence(s)
    AB056722, AP001099, BC053324
    Consensus CDS
    CCDS11849.1
    UniProtKB/Swiss-Prot
    Q8J025
    Related
    ENSP00000347433.4, ENST00000355285.10
    Conserved Domains (1) summary
    pfam14921
    Location:51282
    APCDDC; Adenomatosis polyposis coli down-regulated 1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    10454635..10489949
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525603.2XP_011523905.1  protein APCDD1 isoform X1

    Conserved Domains (1) summary
    pfam14921
    Location:51258
    APCDDC; Adenomatosis polyposis coli down-regulated 1
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