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

Gene ID: 402381, updated on 7-Jun-2020

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
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

Genomic context

See SOHLH1 in Genome Data Viewer
Location:
9q34.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (135691862..135702112, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (138585253..138591374, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376317 Neighboring gene lipocalin 9 Neighboring gene uncharacterized LOC105376318 Neighboring gene potassium sodium-activated channel subfamily T member 1 Neighboring gene Sharpr-MPRA regulatory region 14740 Neighboring gene uncharacterized LOC107987139

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
oocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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

  1. NG_033784.1 RefSeqGene

    Range
    5001..11122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001012415.3NP_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
    Related
    ENSP00000298466.5, ENST00000298466.9
  2. NM_001101677.2NP_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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    135691862..135702112 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518698.3XP_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:51102
    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, ...
  2. XM_024447552.1XP_024303320.1  spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform X3

    Conserved Domains (1) summary
    cd00083
    Location:134
    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, ...
  3. XM_006717109.4XP_006717172.1  spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform X2

    Conserved Domains (1) summary
    cd00083
    Location:134
    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, ...
  4. XM_005263403.3XP_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:51102
    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, ...
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