SpermatogenesisOnline 1.0
 

Tag Content
SG ID
SG00000590 
UniProt Accession
Theoretical PI
4.47  
Molecular Weight
34526 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
SOHLH1 
Gene Synonyms/Alias
C9orf157, NOHLH, TEB2 
Protein Name
Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 
Protein Synonyms/Alias
 
Organism
Homo sapiens (Human) 
NCBI Taxonomy ID
9606 
Chromosome Location
chr:9;138585253-138591374;-1
View in Ensembl genome browser  
Function in Stage
Function in Cell Type
Description
We analyzed whether there were mutations in the SOHLH1 gene in 96 Korean patients with NOA. The sequence analysis discovered three novel variations . 
The information of related literatures
1. Y. Choi, S. Jeon, M. Choi, M. H. Lee, M. Park, D. R. Lee, K. Y. Jun, Y. Kwon, O. H. Lee, S. H. Song, J. Y. Kim, K. A. Lee, T. K. Yoon, A. Rajkovic and S. H. Shim (2010) Mutations in SOHLH1 gene associate with nonobstructive azoospermia. Hum Mutat 31(7): 788-93. 

Abstract
In a previous study, we found SOHLH1 (spermatogenesis and oogenesis-specific basic helix-loop-helix 1) as the first testis-specific basic helix-loop-helix transcription factor essential for spermatogonial differentiation. SOHLH1 therefore represents an excellent candidate gene for testicular failure such as nonobstructive azoospermia (NOA). We analyzed whether there were mutations in the SOHLH1 gene in 96 Korean patients with NOA. The sequence analysis discovered three novel variations PMID: [20506135] 

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Figures for illustrating the function of this protein/gene
Ref: Y. Choi, S. Jeon, M. Choi, M. H. Lee, M. Park, D. R. Lee, K. Y. Jun, Y. Kwon, O. H. Lee, S. H. Song, J. Y. Kim, K. A. Lee, T. K. Yoon, A. Rajkovic and S. H. Shim (2010) Mutations in SOHLH1 gene associate with nonobstructive azoospermia. Hum Mutat 31(7): 788-93. PMID: [20506135]
Function
Transcription factor expressed in undifferentiatedspermatogonia required for spermatogonial development (Bysimilarity). 
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Subcellular Location
Cytoplasm (By similarity). Nucleus (Bysimilarity). 
Tissue Specificity
 
Gene Ontology
GO IDGO termEvidence
GO:0005737 C:cytoplasm IEA:UniProtKB-SubCell.
GO:0005634 C:nucleus IEA:UniProtKB-SubCell.
GO:0003677 F:DNA binding IEA:UniProtKB-KW.
GO:0003700 F:sequence-specific DNA binding transcription factor activity IEA:Compara.
GO:0030154 P:cell differentiation IEA:UniProtKB-KW.
GO:0048477 P:oogenesis IEA:Compara.
GO:0001541 P:ovarian follicle development IEA:Compara.
GO:0045893 P:positive regulation of transcription, DNA-dependent IEA:Compara.
GO:0007283 P:spermatogenesis IEA:UniProtKB-KW.
GO:0006351 P:transcription, DNA-dependent IEA:UniProtKB-KW.
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Interpro
IPR011598;    HLH_dom.
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Pfam
PF00010;    HLH;    1.
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SMART
SM00353;    HLH;    1.
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PROSITE
PS50888;    BHLH;    1.
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PRINTS
Created Date
18-Oct-2012 
Record Type
Experiment identified 
Protein sequence Annotation
CHAIN         1    328       Spermatogenesis- and oogenesis-specific
                             basic helix-loop-helix-containing protein
                             1.
                             /FTId=PRO_0000315698.
DOMAIN       53    104       bHLH.
VAR_SEQ     317    328       EWGPGFRAGPPA -> SLEGRGGSGPAWAPAESSPLDVGEP
                             GFLGDPELGSQELQDSPLEPWGLDVDCAGLALKDEVESIFP
                             DFFAC (in isoform 2).
                             /FTId=VSP_039904.
VARIANT      31     31       C -> R (found in men with non-obstructive
                             azoospermia; does not have any
                             significant effect on its
                             transactivation).
                             /FTId=VAR_064060.
VARIANT      37     37       R -> Q (in dbSNP:rs471525).
                             /FTId=VAR_038281.
VARIANT     177    177       P -> T (found in men with non-obstructive
                             azoospermia; does not have any
                             significant effect on its
                             transactivation).
                             /FTId=VAR_064061.
VARIANT     269    269       P -> S (in dbSNP:rs3119932).
                             /FTId=VAR_038282.
CONFLICT    293    293       S -> F (in Ref. 6; DB304976).
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Nucleotide Sequence
Length: 1987 bp   Go to nucleotide: FASTA
Protein Sequence
Length: 328 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
UniProt
 Gene Symbol Ref Databases
Other Protein-Protein interaction resources
String database  
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