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] See more...

Aliases for APCDD1 Gene

Aliases for APCDD1 Gene

  • APC Down-Regulated 1 2 3 5
  • Adenomatosis Polyposis Coli Down-Regulated 1 Protein 3 4
  • Protein APCDD1 3 4
  • DRAPC1 3 4
  • Adenomatosis Polyposis Coli Down-Regulated 1 2
  • Hypoptrichosis Simplex 3
  • FP7019 3
  • B7323 3
  • HYPT1 3
  • HHS 3
  • HTS 3

External Ids for APCDD1 Gene

Previous GeneCards Identifiers for APCDD1 Gene

  • GC00U991017
  • GC18P010511

Summaries for APCDD1 Gene

Entrez Gene Summary for APCDD1 Gene

  • 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]

GeneCards Summary for APCDD1 Gene

APCDD1 (APC Down-Regulated 1) is a Protein Coding gene. Diseases associated with APCDD1 include Hypotrichosis 1 and Hypotrichosis Simplex. Gene Ontology (GO) annotations related to this gene include Wnt-protein binding. An important paralog of this gene is APCDD1L.

UniProtKB/Swiss-Prot Summary for APCDD1 Gene

  • 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.

Additional gene information for APCDD1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APCDD1 Gene

Genomics for APCDD1 Gene

GeneHancer (GH) Regulatory Elements for APCDD1 Gene

Promoters and enhancers for APCDD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J010454 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.6 575 4 ZFX ZBTB10 ZBTB26 RFX1 EZH2 HDAC2 PCBP1 SRSF1 ZBTB17 TCF7L2 APCDD1 lnc-PIEZO2-16 NAPG HSALNG0119997 HSALNG0119999
GH18J010455 Enhancer 0.3 Ensembl dbSUPER 500.7 -1.5 -1527 0.2 APCDD1 HSALNG0119997 lnc-PIEZO2-16
GH18J010085 Enhancer 1.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas 20.5 -368.3 -368327 2.6 ZNF217 CLOCK CUX1 CTBP1 ZNF316 MAFF CTCF MAFK CEBPB NFE2 LOC105371984 APCDD1 NAPG lnc-VAPA-3
GH18J010475 Enhancer 1.1 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 15.1 +21.8 21801 1.6 PBX2 HDAC2 RCOR1 POLR2A FOXP2 MEIS2 KDM1A PKNOX1 GFI1B SP7 HSALNG0119999 NAPG APCDD1 piR-49423-111
GH18J010481 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.6 +28.4 28373 3.6 EP300 TRIM22 POLR2A BCL11A TCF12 ARNT MEF2B NBN SPI1 SMARCA5 NAPG APCDD1 HSALNG0119999 piR-49423-111
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APCDD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APCDD1

Top Transcription factor binding sites by QIAGEN in the APCDD1 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2

Genomic Locations for APCDD1 Gene

Genomic Locations for APCDD1 Gene
chr18:10,454,628-10,489,949
(GRCh38/hg38)
Size:
35,322 bases
Orientation:
Plus strand
chr18:10,454,625-10,489,945
(GRCh37/hg19)
Size:
35,321 bases
Orientation:
Plus strand

Genomic View for APCDD1 Gene

Genes around APCDD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APCDD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APCDD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APCDD1 Gene

Proteins for APCDD1 Gene

  • Protein details for APCDD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8J025-APCD1_HUMAN
    Recommended name:
    Protein APCDD1
    Protein Accession:
    Q8J025
    Secondary Accessions:
    • B4DUQ0
    • B4DZT0
    • Q71M25

    Protein attributes for APCDD1 Gene

    Size:
    514 amino acids
    Molecular mass:
    58797 Da
    Quaternary structure:
    • Homodimer. Interacts with LRP5 and WNT3A.
    SequenceCaution:
    • Sequence=AAQ04816.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAG62412.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG64192.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for APCDD1 Gene

Post-translational modifications for APCDD1 Gene

Other Protein References for APCDD1 Gene

No data available for DME Specific Peptides for APCDD1 Gene

Domains & Families for APCDD1 Gene

Gene Families for APCDD1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for APCDD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for APCDD1 Gene

GenScript: Design optimal peptide antigens:
  • Adenomatosis polyposis coli down-regulated 1 protein (APCD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8J025

UniProtKB/Swiss-Prot:

APCD1_HUMAN :
  • Belongs to the APCDD1 family.
Family:
  • Belongs to the APCDD1 family.
genes like me logo Genes that share domains with APCDD1: view

Function for APCDD1 Gene

Molecular function for APCDD1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Target gene of the Wnt/Beta-catenin pathway, transcriptionally regulated by the CTNNB1/TF7L2 complex.

Phenotypes From GWAS Catalog for APCDD1 Gene

Gene Ontology (GO) - Molecular Function for APCDD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20393562
GO:0017147 Wnt-protein binding IDA,IEA 20393562
GO:0042802 identical protein binding IPI 20393562
genes like me logo Genes that share ontologies with APCDD1: view
genes like me logo Genes that share phenotypes with APCDD1: view

Human Phenotype Ontology for APCDD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for APCDD1 Gene

MGI Knock Outs for APCDD1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for APCDD1 Gene

Localization for APCDD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APCDD1 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APCDD1 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
golgi apparatus 1
peroxisome 0
cytosol 0
lysosome 0

Gene Ontology (GO) - Cellular Components for APCDD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,IBA 21873635
GO:0005887 integral component of plasma membrane IDA 20393562
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with APCDD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for APCDD1 Gene

Pathways & Interactions for APCDD1 Gene

PathCards logo

SuperPathways for APCDD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for APCDD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001942 hair follicle development IMP 20393562
GO:0016055 Wnt signaling pathway IEA --
GO:0030178 negative regulation of Wnt signaling pathway IDA,IEA 20393562
GO:0043615 astrocyte cell migration IEA --
genes like me logo Genes that share ontologies with APCDD1: view

No data available for Pathways by source and SIGNOR curated interactions for APCDD1 Gene

Drugs & Compounds for APCDD1 Gene

No Compound Related Data Available

Transcripts for APCDD1 Gene

mRNA/cDNA for APCDD1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for APCDD1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c
SP1: - - -
SP2: - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - - - -
SP6:
SP7: - -

Relevant External Links for APCDD1 Gene

GeneLoc Exon Structure for
APCDD1

Expression for APCDD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APCDD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for APCDD1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x4.0).

Protein differential expression in normal tissues from HIPED for APCDD1 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for APCDD1 Gene



Protein tissue co-expression partners for APCDD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APCDD1

SOURCE GeneReport for Unigene cluster for APCDD1 Gene:

Hs.293274

mRNA Expression by UniProt/SwissProt for APCDD1 Gene:

Q8J025-APCD1_HUMAN
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).

Evidence on tissue expression from TISSUES for APCDD1 Gene

  • Nervous system(3.1)
  • Skin(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for APCDD1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
Regions:
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
Limb:
  • arm
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with APCDD1: view

Orthologs for APCDD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for APCDD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APCDD1 31 30
  • 99.49 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APCDD1 31
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APCDD1 31 30
  • 87.61 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apcdd1 30
  • 85.6 (n)
mouse
(Mus musculus)
Mammalia Apcdd1 17 31 30
  • 85.54 (n)
cow
(Bos Taurus)
Mammalia APCDD1 31 30
  • 83.04 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APCDD1 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves APCDD1 31 30
  • 78.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APCDD1 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apcdd1 30
  • 72.7 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100332639 30
  • 65.3 (n)
APCDD1 31
  • 47 (a)
OneToOne
Species where no ortholog for APCDD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for APCDD1 Gene

ENSEMBL:
Gene Tree for APCDD1 (if available)
TreeFam:
Gene Tree for APCDD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APCDD1: view image

Paralogs for APCDD1 Gene

Paralogs for APCDD1 Gene

(20) SIMAP similar genes for APCDD1 Gene using alignment to 5 proteins:

  • APCD1_HUMAN
  • J3KTQ6_HUMAN
  • J3KTR1_HUMAN
  • J3QSE3_HUMAN
  • V9GY82_HUMAN
genes like me logo Genes that share paralogs with APCDD1: view

Variants for APCDD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APCDD1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs267606659 Pathogenic: Hypotrichosis simplex. Hypotrichosis 1 (HYPT1) [MIM:605389] 10,455,007(+) T/Gp.Leu9Arg MISSENSE_VARIANT
rs3748415 - p.Val150Ile

Additional dbSNP identifiers (rs#s) for APCDD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for APCDD1 Gene

Variant ID Type Subtype PubMed ID
dgv1549n106 CNV deletion 24896259
dgv197e215 CNV deletion 23714750
esv1968192 CNV deletion 18987734
esv2443287 CNV deletion 19546169
esv2716786 CNV deletion 23290073
esv2716787 CNV deletion 23290073
esv2716788 CNV deletion 23290073
esv3055 CNV loss 18987735
esv33029 CNV gain 17666407
esv3641777 CNV loss 21293372
esv5818 CNV loss 19470904
esv988512 CNV deletion 20482838
nsv1059110 CNV gain 25217958
nsv1071830 CNV deletion 25765185
nsv1126476 CNV deletion 24896259
nsv131991 CNV deletion 16902084
nsv458026 CNV loss 19166990
nsv576476 CNV loss 21841781

Variation tolerance for APCDD1 Gene

Residual Variation Intolerance Score: 31.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.07; 68.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APCDD1 Gene

Human Gene Mutation Database (HGMD)
APCDD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APCDD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APCDD1 Gene

Disorders for APCDD1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for APCDD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypotrichosis 1
  • hhs
hypotrichosis simplex
  • hhs
hypotrichosis
orofaciodigital syndrome viii
  • cleft lip/palate with abnormal thumbs and microcephaly
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

APCD1_HUMAN
  • 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. {ECO:0000269 PubMed:20393562}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for APCDD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with APCDD1: view

No data available for Genatlas for APCDD1 Gene

Publications for APCDD1 Gene

  1. Isolation of a novel human gene, APCDD1, as a direct target of the beta-Catenin/T-cell factor 4 complex with probable involvement in colorectal carcinogenesis. (PMID: 12384519) Takahashi M … Nakamura Y (Cancer research 2002) 2 3 4 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. (PMID: 20393562) Shimomura Y … Christiano AM (Nature 2010) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 54

Products for APCDD1 Gene

Sources for APCDD1 Gene