SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SOHLH1provided by HGNC
Official Full Name: spermatogenesis and oogenesis specific basic helix-loop-helix 1provided by HGNC
Primary source: HGNC:HGNC:27845
See related: Ensembl:ENSG00000165643 MIM:610224; AllianceGenome:HGNC:27845
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ODG5; TEB2; NOHLH; SPGF32; SPATA27; bHLHe80; C9orf157; bA100C15.3
Summary: 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
Expression: Restricted expression toward testis (RPKM 2.3) See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (135693407..135702112, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (147920187..147928960, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (138585253..138591327, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis.
Title: Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis.
The mutation c.346-1G > A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition.
Title: The mutation c.346-1G > A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition.
Stimulated by retinoic acid gene 8 (STRA8) interacts with the germ cell specific bHLH factor SOHLH1 and represses c-KIT expression in vitro.
Title: Stimulated by retinoic acid gene 8 (STRA8) interacts with the germ cell specific bHLH factor SOHLH1 and represses c-KIT expression in vitro.
In glioblastoma (GBM) cell lines, cellular proliferation, migration, and invasion were significantly enhanced after Spermatogenesis- and oogenesis- specific basic helix-loop-helix transcription factor1 (Sohlh1) knockdown, but significantly inhibited after Sohlh1 overexpression.
Title: Sohlh1 suppresses glioblastoma cell proliferation, migration, and invasion by inhibition of Wnt/β-catenin signaling.
the expression of Sohlh genes in human tissues
Title: Immunohistochemical Study of Expression of Sohlh1 and Sohlh2 in Normal Adult Human Tissues.
No association between SOHLH1 SNPs and azoospermia risk in the Chinese population.
Title: Association of genetic variants in SOHLH1 and SOHLH2 with non-obstructive azoospermia risk in the Chinese population.
In Chinese and Serbian patients with primary ovarian insufficiency, SOHLH1 was found to be a candidate gene.
Title: Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency.
Findings indicate that a splice-acceptor site mutation that probably causes a nonfunctional SOHLH1 protein results in nonobstructive azoospermia by the lack of normal spermatogenesis.
Title: Mutations in SOHLH1 gene associate with nonobstructive azoospermia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutations in SOHLH1 gene associate with nonobstructive azoospermia.
Sohlh1 and Lhx8 are two germ cell-specific, critical regulators of oogenesis
Title: Oogenesis requires germ cell-specific transcriptional regulators Sohlh1 and Lhx8.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ovarian dysgenesis 5 MedGen: C4540141 OMIM: 617690 GeneReviews: Not available	Compare labs
Spermatogenic failure 32 MedGen: C4748253 OMIM: 618115 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables transcription cis-regulatory region binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in oocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1

Names: newborn ovary helix loop helix; spermatogenesis associated 27

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_033784.2 RefSeqGene

Range

7631..13705

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001012415.3 → NP_001012415.3 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks a splice junction in the 3' region, compared to variant 1. The resulting isoform (b) is shorter and has a different C-terminus, compared to isoform a.

Source sequence(s)

AL158822

Consensus CDS

CCDS35174.1

UniProtKB/Swiss-Prot

C9JG81, Q5EE14, Q5EGC2, Q5JUK2, Q8NEE3

Related

ENSP00000298466.5, ENST00000298466.9

Conserved Domains (1) summary

cd18908
Location:53 → 111

bHLH_SOHLH1_2; basic helix-loop-helix (bHLH) domain found in the spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein (SOHLH) family
NM_001101677.2 → NP_001095147.2 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AL158822

Consensus CDS

CCDS48054.1

Related

ENSP00000404438.1, ENST00000425225.2

Conserved Domains (1) summary

cd18908
Location:53 → 111

bHLH_SOHLH1_2; basic helix-loop-helix (bHLH) domain found in the spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein (SOHLH) family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

135693407..135702112 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006717109.5 → XP_006717172.1 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform X2

Conserved Domains (1) summary

cd00083
Location:1 → 34

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
XM_011518698.4 → XP_011517000.1 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_011517000.1

Conserved Domains (1) summary

cd00083
Location:51 → 102

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
XM_005263403.4 → XP_005263460.1 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_005263460.1

Conserved Domains (1) summary

cd00083
Location:51 → 102

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

147920187..147928960 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054362984.1 → XP_054218959.1 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform X2
XM_054362982.1 → XP_054218957.1 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform X1
XM_054362983.1 → XP_054218958.1 spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform X1