• Gene id: 147495

Gene Summary

• Gene Symbol: APCDD1   Gene   UCSC   Ensembl
• Aliases: B7323, DRAPC1, FP7019, HHS, HTS, HYPT1
• Gene name: APC down-regulated 1
• Alternate names: protein APCDD1, adenomatosis polyposis coli down-regulated 1 protein, hypoptrichosis simplex,
• Gene location: 18p11.22 (10454634: 10489948)     Exons: 6     NC_000018.10
• Gene summary(Entrez): 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,
• OMIM: 602831

Protein Summary

• Protein general information: Q8J025  
  • Name: Protein APCDD1 (Adenomatosis polyposis coli down regulated 1 protein)
  • Length: 514  
  • Mass: 58797
  • 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
• Sequence:

  MSWPRRLLLRYLFPALLLHGLGEGSALLHPDSRSHPRSLEKSAWRAFKESQCHHMLKHLHNGARITVQMPPTIEG
  HWVSTGCEVRSGPEFITRSYRFYHNNTFKAYQFYYGSNRCTNPTYTLIIRGKIRLRQASWIIRGGTEADYQLHNV
  QVICHTEAVAEKLGQQVNRTCPGFLADGGPWVQDVAYDLWREENGCECTKAVNFAMHELQLIRVEKQYLHHNLDH
  LVEELFLGDIHTDATQRMFYRPSSYQPPLQNAKNHDHACIACRIIYRSDEHHPPILPPKADLTIGLHGEWVSQRC
  EVRPEVLFLTRHFIFHDNNNTWEGHYYHYSDPVCKHPTFSIYARGRYSRGVLSSRVMGGTEFVFKVNHMKVTPMD
  AATASLLNVFNGNECGAEGSWQVGIQQDVTHTNGCVALGIKLPHTEYEIFKMEQDARGRYLLFNGQRPSDGSSPD
  RPEKRATSYQMPLVQCASSSPRAEDLAEDSGSSLYGRAPGRHTWSLLLAALACLVPLLHWNIRR

• Structural information:
  • Interpro: IPR042425  IPR029405  
  • DIP: 56190
  • STRING: ENSP00000347433
• Other Databases: GeneCards:  APCDD1  Malacards:  APCDD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030178	negative regulation of Wnt signaling pathway	IBA	biological process
GO:0017147	Wnt-protein binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0030178	negative regulation of Wnt signaling pathway	IDA	biological process
GO:0017147	Wnt-protein binding	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0001942	hair follicle development	IMP	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0017147	Wnt-protein binding	IEA	molecular function
GO:0030178	negative regulation of Wnt signaling pathway	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043615	astrocyte cell migration	IEA	biological process
GO:0042487	regulation of odontogenesis of dentin-containing tooth	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Hereditary hypotrichosis simplex	KEGG:H00786
Hereditary hypotrichosis simplex	KEGG:H00786
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R