Homo sapiens Protein: SOHLH1
Summary
InnateDB Protein IDBP-596247.1
Last Modified 2018-06-05 [Report errors or provide feedback]
Gene Symbol SOHLH1
Protein Name spermatogenesis and oogenesis specific basic helix-loop-helix 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000298466
InnateDB Gene IDBG-116802 (SOHLH1)
Protein Structure
UniProt Annotation
Function Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation without affecting meiosis I (By similarity). {ECO:0000250UniProtKB:Q6IUP1, ECO:0000250UniProtKB:Q9D489}.
Subcellular Localization Cytoplasm {ECO:0000250UniProtKB:Q6IUP1}. Nucleus {ECO:0000250UniProtKB:Q6IUP1, ECO:0000255PROSITE- ProRule:PRU00981}.
Disease Associations Note=Genetic variations in SOHLH1 may be associated with non-obstructive azoospermia. {ECO:0000269PubMed:20506135}.Ovarian dysgenesis 5 (ODG5) [MIM:617690]: A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG5 is an autosomal recessive condition. {ECO:0000269PubMed:25774885}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001046 core promoter sequence-specific DNA binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0003677 DNA binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0007283 spermatogenesis
GO:0009994 oocyte differentiation
GO:0030154 cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048477 oogenesis
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro 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
PFAM PF00010
PRINTS
PIRSF
SMART SM00353
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q5JUK2
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 402381
UniGene
RefSeq NP_001012415
HUGO HGNC:27845
OMIM 610224
CCDS CCDS35174
HPRD
IMGT
EMBL AL158822 AY884306 AY902244 BC031861 CH471090 DB304976
GenPept AAH31861 AAW78548 AAW82617 EAW88175