ENSG00000105991


Homo sapiens

Features
Gene ID: ENSG00000105991
  
Biological name :HOXA1
  
Synonyms : homeobox A1 / HOXA1 / P49639
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: p15.2
Gene start: 27092993
Gene end: 27095996
  
Corresponding Affymetrix probe sets: 214639_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000347851
Ensembl peptide - ENSP00000494260
Ensembl peptide - ENSP00000343246
NCBI entrez gene - 3198     See in Manteia.
OMIM - 142955
RefSeq - NM_005522
RefSeq - NM_153620
RefSeq Peptide - NP_005513
RefSeq Peptide - NP_705873
swissprot - E7ERT8
swissprot - P49639
Ensembl - ENSG00000105991
  
Related genetic diseases (OMIM): 601536 - Athabaskan brainstem dysgenesis syndrome, 601536

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
 hoxa1aENSDARG00000104307Danio rerio
 HOXA1ENSGALG00000028095Gallus gallus
 Hoxa1ENSMUSG00000029844Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HOXB1 / P14653 / homeobox B1ENSG0000012009444
HOXD1 / Q9GZZ0 / homeobox D1ENSG0000012864536
HOXD3 / P31249 / homeobox D3ENSG0000012865224
HOXB3 / P14651 / homeobox B3ENSG0000012009324
HOXA3 / O43365 / homeobox A3ENSG0000010599723
HOXA2 / O43364 / homeobox A2ENSG0000010599621
HOXB2 / P14652 / homeobox B2ENSG0000017391721
PDX1 / P52945 / pancreatic and duodenal homeobox 1ENSG0000013951520
GSX1 / Q9H4S2 / GS homeobox 1ENSG0000016984016
GSX2 / Q9BZM3 / GS homeobox 2ENSG0000018061316


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR009057  Homeobox-like domain superfamily
 IPR017970  Homeobox, conserved site
 IPR020479  Homeobox domain, metazoa


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development TAS
 biological_processGO:0007605 sensory perception of sound IDA
 biological_processGO:0007634 optokinetic behavior IDA
 biological_processGO:0009653 anatomical structure morphogenesis IMP
 biological_processGO:0021599 abducens nerve formation IMP
 biological_processGO:0042473 outer ear morphogenesis IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0048702 embryonic neurocranium morphogenesis IMP
 biological_processGO:0048839 inner ear development IMP
 biological_processGO:0048844 artery morphogenesis IMP
 biological_processGO:0050795 regulation of behavior IDA
 biological_processGO:0050890 cognition IDA
 biological_processGO:0050905 neuromuscular process IDA
 biological_processGO:0060840 artery development IMP
 biological_processGO:0060876 semicircular canal formation IMP
 biological_processGO:0090102 cochlea development IMP
 biological_processGO:0090103 cochlea morphogenesis IMP
 cellular_componentGO:0005634 nucleus IEA
 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 IC
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
Activation of anterior HOX genes in hindbrain development during early embryogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
Show

 HP:0000496 Abnormality of eye movement "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson]
Show

 HP:0002194 Delayed gross motor development 
Show

 HP:0002363 Abnormality of the brainstem 
Show

 HP:0009145 Abnormalities of the cerebral arteries 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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