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

    Gene ID: 147495, updated on 1-Mar-2024

    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
    NEW
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    Genomic context

    See APCDD1 in Genome Data Viewer
    Location:
    18p11.22
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (10454635..10489949)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (10616628..10652095)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (10454632..10489946)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371989 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:10404153-10404806 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:10405588-10406374 Neighboring gene uncharacterized LOC105371988 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:10406375-10407161 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:10413718-10414917 Neighboring gene long intergenic non-protein coding RNA 1254 Neighboring gene Sharpr-MPRA regulatory region 1128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13081 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13082 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:10485921-10486120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9293 Neighboring gene NSF attachment protein gamma Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13083 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:10560411-10560913 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:10577856-10578437 Neighboring gene uncharacterized LOC124904248

    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
    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
    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
    The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      B4DUQ0, B4DZT0, Q71M25, Q8J025
      Related
      ENSP00000347433.4, ENST00000355285.10
      Conserved Domains (1) summary
      pfam14921
      Location:51282
      APCDDC; Adenomatosis polyposis coli down-regulated 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      10616628..10652095
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)