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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: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Transcription factor expressed in undifferentiated spermatogonia required for spermatogonial development.By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Spermatogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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

HGNCiHGNC:27845. SOHLH1.

Subcellular locationi

  • Cytoplasm By similarity
  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Genetic variations in SOHLH1 may be associated with non-obstructive azoospermia.

Organism-specific databases

DisGeNETi402381.
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.
PRIDEiQ5JUK2.

PTM databases

iPTMnetiQ5JUK2.
PhosphoSitePlusiQ5JUK2.

Expressioni

Gene expression databases

BgeeiENSG00000165643.
CleanExiHS_SOHLH1.
GenevisibleiQ5JUK2. HS.

Interactioni

Protein-protein interaction databases

IntActiQ5JUK2. 2 interactors.
STRINGi9606.ENSP00000404438.

Structurei

3D structure databases

ProteinModelPortaliQ5JUK2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410J1JP. Eukaryota.
ENOG4111AXY. LUCA.
GeneTreeiENSGT00390000000656.
HOGENOMiHOG000060205.
InParanoidiQ5JUK2.
OMAiPTVRGCN.
OrthoDBiEOG091G0V6C.
PhylomeDBiQ5JUK2.
TreeFamiTF336841.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR032668. SOHLH1.
[Graphical view]
PANTHERiPTHR16223:SF14. PTHR16223:SF14. 1 hit.
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

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_06406031C → R Found in men with non-obstructive azoospermia; does not have any significant effect on its transactivation. 1 PublicationCorresponds to variant rs199935200dbSNPEnsembl.1
Natural variantiVAR_03828137R → Q.4 PublicationsCorresponds to variant rs471525dbSNPEnsembl.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 rs201142743dbSNPEnsembl.1
Natural variantiVAR_038282269P → S.4 PublicationsCorresponds to variant rs3119932dbSNPEnsembl.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. Translation: CAI39241.2.
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY902244 mRNA. Translation: AAW82617.1.
AL158822 Genomic DNA. Translation: CAI39241.2.
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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ5JUK2. 2 interactors.
STRINGi9606.ENSP00000404438.

PTM databases

iPTMnetiQ5JUK2.
PhosphoSitePlusiQ5JUK2.

Polymorphism and mutation databases

BioMutaiSOHLH1.
DMDMi296453023.

Proteomic databases

PaxDbiQ5JUK2.
PRIDEiQ5JUK2.

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.
GeneCardsiSOHLH1.
HGNCiHGNC:27845. SOHLH1.
MIMi610224. gene.
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.
OMAiPTVRGCN.
OrthoDBiEOG091G0V6C.
PhylomeDBiQ5JUK2.
TreeFamiTF336841.

Miscellaneous databases

GenomeRNAii402381.
PROiQ5JUK2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165643.
CleanExiHS_SOHLH1.
GenevisibleiQ5JUK2. HS.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR032668. SOHLH1.
[Graphical view]
PANTHERiPTHR16223:SF14. PTHR16223:SF14. 1 hit.
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSOLH1_HUMAN
AccessioniPrimary (citable) accession number: Q5JUK2
Secondary accession number(s): C9JG81
, Q5EE14, Q5EGC2, Q8NEE3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 98 of the entry and version 4 of the sequence. [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 chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.