Entity Details

Primary name SOLH1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ5JUK2
EntryNameSOLH1_HUMAN
FullNameSpermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1
TaxID9606
Evidenceevidence at protein level
Length328
SequenceStatuscomplete
DateCreated2008-01-15
DateModified2021-06-02

Ontological Relatives

GenesSOHLH1

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007275 multicellular organism development
GO:0007283 spermatogenesis
GO:0009994 oocyte differentiation
GO:0030154 cell differentiation
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR011598 Myc-type, basic helix-loop-helix (bHLH) domainDomainDomain
IPR032668 Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1FamilyFamily
IPR036638 Helix-loop-helix DNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617690 OMIMOvarian dysgenesis 5 (ODG5)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. The disease is caused by variants affecting the gene represented in this entry.
618115 OMIMSpermatogenic failure 32 (SPGF32)An autosomal dominant infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia. The disease is caused by variants affecting the gene represented in this entry.