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SOHLH1 (spermatogenesis and oogenesis specific basic helix-loop-helix 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
402381
Gene nameGene Name - the full gene name approved by the HGNC.
Spermatogenesis and oogenesis specific basic helix-loop-helix 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SOHLH1
SynonymsGene synonyms aliases
C9orf157, NOHLH, ODG5, SPATA27, SPGF32, TEB2, bA100C15.3, bHLHe80
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.3
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternativ
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs140132974 C>T Pathogenic, benign Splice acceptor variant
rs864309645 A>- Likely-pathogenic, pathogenic Coding sequence variant, frameshift variant
rs864309646 G>C Likely-pathogenic, pathogenic Coding sequence variant, intron variant, stop gained
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT1379236 hsa-miR-1197 CLIP-seq
MIRT1379237 hsa-miR-3619-3p CLIP-seq
MIRT1379238 hsa-miR-3652 CLIP-seq
MIRT1379239 hsa-miR-3928 CLIP-seq
MIRT1379240 hsa-miR-4430 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0005515 Function Protein binding IPI 32296183
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q5JUK2
Protein name Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1
Protein 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 with
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH
55 → 104
Helix-loop-helix DNA-binding domain
 Domain
Sequence 
MASRCSEPYPEVSRIPTVRGCNGSLSGALSCCEDSARGSGPPKAPTVAEGPSSCLRRNVI
SERERRKRMSLSCERLRALLPQFDGRREDMASVLEMSVQFLRLASALGPSQEQHAILASS
KEMWHSLQEDVLQLTLSSQIQAGVPDPGTGASSGTRTPDVKAFLESPWSLDPASASPEPV
PHILASSRQWDPASCTSLGTDKCEALLGLCQVRGGLPPFSEPSSLVPWPPGRSLPKAVRP
PLSWPPFSQQQTLPVMSGEALGWLGQAGPLAMGAAPLGEPAKEDPMLAQEAGSALGSDVD
DGTSFLLTAGPSSWPGEWGPGFRAGPPA
Sequence length 328
Interactions View interactions
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Azoospermia Azoospermia rs200969445, rs144567652, rs765353898
Male infertility Male infertility with azoospermia or oligozoospermia due to single gene mutation rs554675432, rs9332971, rs397507505, rs797045116, rs748618094, rs781431741, rs1555979575, rs377581367
Non-obstructive azoospermia Non-obstructive azoospermia rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900
Obstructive azoospermia Obstructive azoospermia rs121909016, rs121908805, rs144055758, rs397508761
Unknown
Disease name Disease term dbSNP ID References
Dwarfism Dwarfism
Hypogonadism Primary hypogonadism 25774885
Ovarian failure Ovarian Failure, Premature 25527234
Physiologic amenorrhea Primary physiologic amenorrhea

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