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Protein

Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1

Gene

SOHLH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 without affecting meiosis I (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Spermatogenesis, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1
Gene namesi
Name:SOHLH1
Synonyms:C9orf157, NOHLH, TEB2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000165643.10
HGNCiHGNC:27845 SOHLH1
MIMi610224 gene
neXtProtiNX_Q5JUK2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Genetic variations in SOHLH1 may be associated with non-obstructive azoospermia.1 Publication
Ovarian dysgenesis 5 (ODG5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:617690
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0802219 – 328Missing in ODG5. 1 PublicationAdd BLAST320

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi402381
MalaCardsiSOHLH1
MIMi617690 phenotype
OpenTargetsiENSG00000165643
Orphaneti399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation
PharmGKBiPA134899168

Polymorphism and mutation databases

BioMutaiSOHLH1
DMDMi296453023

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003156981 – 328Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1Add BLAST328

Proteomic databases

PaxDbiQ5JUK2
PeptideAtlasiQ5JUK2
PRIDEiQ5JUK2
ProteomicsDBi63276
63277 [Q5JUK2-2]

PTM databases

iPTMnetiQ5JUK2
PhosphoSitePlusiQ5JUK2

Expressioni

Gene expression databases

BgeeiENSG00000165643 Expressed in 44 organ(s), highest expression level in prefrontal cortex
CleanExiHS_SOHLH1
GenevisibleiQ5JUK2 HS

Organism-specific databases

HPAiHPA059439

Interactioni

Subunit structurei

Forms both hetero- and homodimers with SOHLH2.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
PEF1Q9UBV84EBI-12288855,EBI-724639

GO - Molecular functioni

Protein-protein interaction databases

BioGridi135454, 6 interactors
IntActiQ5JUK2, 25 interactors
STRINGi9606.ENSP00000404438

Structurei

3D structure databases

ProteinModelPortaliQ5JUK2
SMRiQ5JUK2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini53 – 104bHLHPROSITE-ProRule annotationAdd BLAST52

Phylogenomic databases

eggNOGiENOG410J1JP Eukaryota
ENOG4111AXY LUCA
GeneTreeiENSGT00390000000656
HOGENOMiHOG000060205
InParanoidiQ5JUK2
KOiK22495
OMAiGALSCCE
OrthoDBiEOG091G0V6C
PhylomeDBiQ5JUK2
TreeFamiTF336841

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR032668 SOHLH1
PANTHERiPTHR16223:SF14 PTHR16223:SF14, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q5JUK2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MASRCSEPYP EVSRIPTVRG CNGSLSGALS CCEDSARGSG PPKAPTVAEG
60 70 80 90 100
PSSCLRRNVI SERERRKRMS LSCERLRALL PQFDGRREDM ASVLEMSVQF
110 120 130 140 150
LRLASALGPS QEQHAILASS KEMWHSLQED VLQLTLSSQI QAGVPDPGTG
160 170 180 190 200
ASSGTRTPDV KAFLESPWSL DPASASPEPV PHILASSRQW DPASCTSLGT
210 220 230 240 250
DKCEALLGLC QVRGGLPPFS EPSSLVPWPP GRSLPKAVRP PLSWPPFSQQ
260 270 280 290 300
QTLPVMSGEA LGWLGQAGPL AMGAAPLGEP AKEDPMLAQE AGSALGSDVD
310 320
DGTSFLLTAG PSSWPGEWGP GFRAGPPA
Length:328
Mass (Da):34,526
Last modified:May 18, 2010 - v4
Checksum:i0518B04A0E991529
GO
Isoform 2 (identifier: Q5JUK2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     317-328: EWGPGFRAGPPA → SLEGRGGSGP...ESIFPDFFAC

Show »
Length:387
Mass (Da):40,662
Checksum:iA66356F480B6ED71
GO

Sequence cautioni

The sequence AAW78548 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti293S → F in DB304976 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0802219 – 328Missing in ODG5. 1 PublicationAdd BLAST320
Natural variantiVAR_06406031C → R Found in men with non-obstructive azoospermia; does not have any significant effect on its transactivation. 1 PublicationCorresponds to variant dbSNP:rs199935200Ensembl.1
Natural variantiVAR_03828137R → Q4 PublicationsCorresponds to variant dbSNP:rs471525Ensembl.1
Natural variantiVAR_064061177P → T Found in men with non-obstructive azoospermia; does not have any significant effect on its transactivation. 1 PublicationCorresponds to variant dbSNP:rs201142743Ensembl.1
Natural variantiVAR_038282269P → S4 PublicationsCorresponds to variant dbSNP:rs3119932Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_039904317 – 328EWGPG…AGPPA → SLEGRGGSGPAWAPAESSPL DVGEPGFLGDPELGSQELQD SPLEPWGLDVDCAGLALKDE VESIFPDFFAC in isoform 2. 1 PublicationAdd BLAST12

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY902244 mRNA Translation: AAW82617.1
AL158822 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW88175.1
BC031861 mRNA Translation: AAH31861.2
AY884306 mRNA Translation: AAW78548.1 Different initiation.
DB304976 mRNA No translation available.
CCDSiCCDS35174.1 [Q5JUK2-1]
CCDS48054.1 [Q5JUK2-2]
RefSeqiNP_001012415.2, NM_001012415.2
NP_001095147.1, NM_001101677.1
UniGeneiHs.120464

Genome annotation databases

EnsembliENST00000298466; ENSP00000298466; ENSG00000165643 [Q5JUK2-1]
ENST00000425225; ENSP00000404438; ENSG00000165643 [Q5JUK2-2]
GeneIDi402381
KEGGihsa:402381
UCSCiuc004cgl.4 human [Q5JUK2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY902244 mRNA Translation: AAW82617.1
AL158822 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW88175.1
BC031861 mRNA Translation: AAH31861.2
AY884306 mRNA Translation: AAW78548.1 Different initiation.
DB304976 mRNA No translation available.
CCDSiCCDS35174.1 [Q5JUK2-1]
CCDS48054.1 [Q5JUK2-2]
RefSeqiNP_001012415.2, NM_001012415.2
NP_001095147.1, NM_001101677.1
UniGeneiHs.120464

3D structure databases

ProteinModelPortaliQ5JUK2
SMRiQ5JUK2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi135454, 6 interactors
IntActiQ5JUK2, 25 interactors
STRINGi9606.ENSP00000404438

PTM databases

iPTMnetiQ5JUK2
PhosphoSitePlusiQ5JUK2

Polymorphism and mutation databases

BioMutaiSOHLH1
DMDMi296453023

Proteomic databases

PaxDbiQ5JUK2
PeptideAtlasiQ5JUK2
PRIDEiQ5JUK2
ProteomicsDBi63276
63277 [Q5JUK2-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000298466; ENSP00000298466; ENSG00000165643 [Q5JUK2-1]
ENST00000425225; ENSP00000404438; ENSG00000165643 [Q5JUK2-2]
GeneIDi402381
KEGGihsa:402381
UCSCiuc004cgl.4 human [Q5JUK2-1]

Organism-specific databases

CTDi402381
DisGeNETi402381
EuPathDBiHostDB:ENSG00000165643.10
GeneCardsiSOHLH1
HGNCiHGNC:27845 SOHLH1
HPAiHPA059439
MalaCardsiSOHLH1
MIMi610224 gene
617690 phenotype
neXtProtiNX_Q5JUK2
OpenTargetsiENSG00000165643
Orphaneti399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation
PharmGKBiPA134899168
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J1JP Eukaryota
ENOG4111AXY LUCA
GeneTreeiENSGT00390000000656
HOGENOMiHOG000060205
InParanoidiQ5JUK2
KOiK22495
OMAiGALSCCE
OrthoDBiEOG091G0V6C
PhylomeDBiQ5JUK2
TreeFamiTF336841

Miscellaneous databases

GenomeRNAii402381
PROiPR:Q5JUK2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165643 Expressed in 44 organ(s), highest expression level in prefrontal cortex
CleanExiHS_SOHLH1
GenevisibleiQ5JUK2 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR032668 SOHLH1
PANTHERiPTHR16223:SF14 PTHR16223:SF14, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSOLH1_HUMAN
AccessioniPrimary (citable) accession number: Q5JUK2
Secondary accession number(s): C9JG81
, Q5EE14, Q5EGC2, Q8NEE3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 112 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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