ENSG00000183762


Homo sapiens

Features
Gene ID: ENSG00000183762
  
Biological name :KREMEN1
  
Synonyms : KREMEN1 / kringle containing transmembrane protein 1 / Q96MU8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: 1
Band: q12.1
Gene start: 29073078
Gene end: 29168333
  
Corresponding Affymetrix probe sets: 224534_at (Human Genome U133 Plus 2.0 Array)   227250_at (Human Genome U133 Plus 2.0 Array)   234843_s_at (Human Genome U133 Plus 2.0 Array)   235370_at (Human Genome U133 Plus 2.0 Array)   243029_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000331242
Ensembl peptide - ENSP00000383189
Ensembl peptide - ENSP00000385431
Ensembl peptide - ENSP00000388228
NCBI entrez gene - 83999     See in Manteia.
OMIM - 609898
RefSeq - XM_017028989
RefSeq - NM_001039570
RefSeq - NM_032045
RefSeq - XM_011530429
RefSeq - XM_011530430
RefSeq - XM_011530432
RefSeq Peptide - NP_001034659
RefSeq Peptide - NP_114434
swissprot - H7BZ87
swissprot - Q96MU8
Ensembl - ENSG00000183762
  
Related genetic diseases (OMIM): 617392 - Ectodermal dysplasia 13, hair/tooth type, 617392
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
 kremen1ENSDARG00000062579Danio rerio
 KREMEN1ENSGALG00000005808Gallus gallus
 Q99N43ENSMUSG00000020393Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8NCW0 / KREMEN2 / kringle containing transmembrane protein 2ENSG0000013165033


Protein motifs (from Interpro)
Interpro ID Name
 IPR000001  Kringle
 IPR000859  CUB domain
 IPR002889  Carbohydrate-binding WSC
 IPR013806  Kringle-like fold
 IPR017076  Kremen
 IPR018056  Kringle, conserved site
 IPR035914  Spermadhesin, CUB domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006915 apoptotic process ISS
 biological_processGO:0007154 cell communication TAS
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0030279 negative regulation of ossification IEA
 biological_processGO:0060173 limb development ISS
 biological_processGO:0060828 regulation of canonical Wnt signaling pathway NAS
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway ISS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane TAS
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
TCF dependent signaling in response to WNT
Negative regulation of TCF-dependent signaling by WNT ligand antagonists
Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0000294 Low frontal hairline "A condition in which the scalp hair is present at lower than usual areas of the forehead." [HPO:curators]
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 HP:0000316 Hypertelorism 
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 HP:0000431 Broad nasal bridge "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators]
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 HP:0000653 Sparse eyelashes "Decreased density/number of eyelashes." [pmid:19125427]
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0012471 Thick vermilion border "Increased width of the "skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson]
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 HP:0045074 Thin eyebrow "Decreased diameter of eyebrow hairs." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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