ENSG00000165643


Homo sapiens

Features
Gene ID: ENSG00000165643
  
Biological name :SOHLH1
  
Synonyms : Q5JUK2 / SOHLH1 / spermatogenesis and oogenesis specific basic helix-loop-helix 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: -1
Band: q34.3
Gene start: 135693407
Gene end: 135699528
  
Corresponding Affymetrix probe sets: 1561403_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000298466
Ensembl peptide - ENSP00000404438
NCBI entrez gene - 402381     See in Manteia.
OMIM - 610224
RefSeq - XM_011518698
RefSeq - NM_001012415
RefSeq - NM_001101677
RefSeq - XM_005263403
RefSeq - XM_006717109
RefSeq Peptide - NP_001012415
RefSeq Peptide - NP_001095147
swissprot - Q5JUK2
Ensembl - ENSG00000165643
  
Related genetic diseases (OMIM): 617690 - Ovarian dysgenesis 5, 617690

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
 Q6IUP1ENSMUSG00000059625Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR011598  Myc-type, basic helix-loop-helix (bHLH) domain
 IPR032668  Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1
 IPR036638  Helix-loop-helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006366 transcription by RNA polymerase II IBA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007283 spermatogenesis ISS
 biological_processGO:0009994 oocyte differentiation ISS
 biological_processGO:0030154 cell differentiation IBA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048477 oogenesis IEA
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001046 core promoter sequence-specific DNA binding IBA
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0042803 protein homodimerization activity ISS
 molecular_functionGO:0046982 protein heterodimerization activity ISS
 molecular_functionGO:0046983 protein dimerization activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000837 Elevated gonadotropins 
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 HP:0008734 Decreased testicular size 
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 HP:0011961 Non-obstructive azoospermia "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278]
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 HP:0011962 Obstructive azoospermia "Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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