ENSG00000180318


Homo sapiens

Features
Gene ID: ENSG00000180318
  
Biological name :ALX1
  
Synonyms : ALX1 / ALX homeobox 1 / Q15699
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q21.31
Gene start: 85280107
Gene end: 85301784
  
Corresponding Affymetrix probe sets: 206837_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000315417
NCBI entrez gene - 8092     See in Manteia.
OMIM - 601527
RefSeq - XM_011538782
RefSeq - NM_006982
RefSeq Peptide - NP_008913
swissprot - Q15699
swissprot - V9HWA7
Ensembl - ENSG00000180318
  
Related genetic diseases (OMIM): 613456 - ?Frontonasal dysplasia 3, 613456

This gene has been taged as a transcription factor by TFT
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
 alx1ENSDARG00000062824Danio rerio
 ALX1ENSGALG00000027213Gallus gallus
 Alx1ENSMUSG00000036602Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ALX4 / Q9H161 / ALX homeobox 4ENSG0000005285040
ALX3 / O95076 / ALX homeobox 3ENSG0000015615037
ARX / Q96QS3 / aristaless related homeoboxENSG0000000484830
RAX / Q9Y2V3 / retina and anterior neural fold homeoboxENSG0000013443824
ISX / Q2M1V0 / intestine specific homeoboxENSG0000017532923
O14813 / PHOX2A / paired like homeobox 2aENSG0000016546223
UNCX / A6NJT0 / UNC homeoboxENSG0000016485322
DRGX / A6NNA5 / dorsal root ganglia homeoboxENSG0000016560622
VSX2 / P58304 / visual system homeobox 2ENSG0000011961422
PHOX2B / Q99453 / paired like homeobox 2bENSG0000010913221
VSX1 / Q9NZR4 / visual system homeobox 1ENSG0000010098721
RAX2 / Q96IS3 / retina and anterior neural fold homeobox 2ENSG0000017397617


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR003654  OAR domain
 IPR009057  Homeobox-like domain superfamily
 IPR017970  Homeobox, conserved site
 IPR033209  ALX homeobox protein 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0001502 cartilage condensation TAS
 biological_processGO:0001755 neural crest cell migration IEA
 biological_processGO:0001843 neural tube closure IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II TAS
 biological_processGO:0007275 multicellular organism development TAS
 biological_processGO:0009952 anterior/posterior pattern specification IEA
 biological_processGO:0010718 positive regulation of epithelial to mesenchymal transition IMP
 biological_processGO:0014031 mesenchymal cell development IEA
 biological_processGO:0030326 embryonic limb morphogenesis IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048704 embryonic skeletal system morphogenesis IEA
 biological_processGO:0060021 roof of mouth development IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005667 transcription factor complex IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0016604 nuclear body IDA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0003714 transcription corepressor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA


Pathways (from Reactome)
Pathway description
No match


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:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
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 HP:0000248 Brachycephaly "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators]
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 HP:0000316 Hypertelorism 
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 HP:0000368 Low-set, posteriorly rotated ears 
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 HP:0000430 Hypoplastic nasal alae "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422]
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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:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
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 HP:0000636 Upper eyelid coloboma "A `coloboma` (HP:0000589) of the `upper eyelid` (FMA:54439)." [HPO:probinson]
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 HP:0000653 Sparse eyelashes "Decreased density/number of eyelashes." [pmid:19125427]
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 HP:0001249 Mental retardation 
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 HP:0002006 Facial cleft 
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 HP:0002057 Prominent glabella 
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 HP:0002223 Absent eyebrows 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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