ENSG00000154856


Homo sapiens

Features
Gene ID: ENSG00000154856
  
Biological name :APCDD1
  
Synonyms : APCDD1 / APC down-regulated 1 / Q8J025
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: 1
Band: p11.22
Gene start: 10454628
Gene end: 10489948
  
Corresponding Affymetrix probe sets: 225016_at (Human Genome U133 Plus 2.0 Array)   240211_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000404930
Ensembl peptide - ENSP00000463110
Ensembl peptide - ENSP00000464649
Ensembl peptide - ENSP00000476491
Ensembl peptide - ENSP00000347433
Ensembl peptide - ENSP00000463104
NCBI entrez gene - 147495     See in Manteia.
OMIM - 607479
RefSeq - NM_153000
RefSeq Peptide - NP_694545
swissprot - X6RH63
swissprot - J3KTQ6
swissprot - J3KTR1
swissprot - J3QSE3
swissprot - Q8J025
swissprot - V9GY82
Ensembl - ENSG00000154856
  
Related genetic diseases (OMIM): 605389 - Hypotrichosis 1, 605389
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 APCDD1ENSDARG00000098203Danio rerio
 APCDD1ENSGALG00000000894Gallus gallus
 Apcdd1ENSMUSG00000071847Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8NCL9 / APCDD1L / APC down-regulated 1 likeENSG0000019876844


Protein motifs (from Interpro)
Interpro ID Name
 IPR029405  APCDD1 domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001942 hair follicle development IMP
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0030178 negative regulation of Wnt signaling pathway IDA
 biological_processGO:0043615 astrocyte cell migration IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017147 Wnt-protein binding IDA
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000535 Sparse eyebrows 
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 HP:0000653 Sparse eyelashes "Decreased density/number of eyelashes." [pmid:19125427]
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 HP:0001006 Hypotrichosis "Reduced or lacking hair growth." [HPO:curators]
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 HP:0001596 Alopecia "Loss of hair from the head or body." [HPO:curators]
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 HP:0002231 Sparse body hair "Sparseness of the body hair." [HPO:probinson]
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 HP:0004782 Hypotrichosis of the scalp "Reduced or lacking hair growth of the scalp." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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