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Q9NX45 (SOLH2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2
Gene names
Name:SOHLH2
Synonyms:TEB1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length425 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Probable transcription factor, which may be involved in spermatogenesis and oogenesis By similarity.

Subcellular location

Nucleus By similarity.

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NX45-1)

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.
Isoform 2 (identifier: Q9NX45-2)

The sequence of this isoform differs from the canonical sequence as follows:
     215-225: ERIKYCCEQLR → LYRKHSSFCFW
     226-425: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9NX45-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-16: MASSIICQEHCQISGQ → METLQESLNT...LLKEELDPLK
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 425425Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2
PRO_0000315700

Regions

Domain201 – 25252bHLH

Natural variations

Alternative sequence1 – 1616MASSI…QISGQ → METLQESLNTLLKQLEEEKK TLESQVKYYALKLEQESKAY QKINNERRTYLAEMSQGSGL HQVSKRQQVDQLPRMQENLV KTLLLKEELDPLK in isoform 3.
VSP_042423
Alternative sequence215 – 22511ERIKYCCEQLR → LYRKHSSFCFW in isoform 2.
VSP_030652
Alternative sequence226 – 425200Missing in isoform 2.
VSP_030653
Natural variant141S → L.
Corresponds to variant rs12873478 [ dbSNP | Ensembl ].
VAR_038283
Natural variant3391A → T.
Corresponds to variant rs2296968 [ dbSNP | Ensembl ].
VAR_038284

Experimental info

Sequence conflict2111K → N in BAA91175. Ref.1
Sequence conflict2111K → N in AAW78547. Ref.5
Sequence conflict3121T → A in BAA91175. Ref.1
Sequence conflict3121T → A in AAW78547. Ref.5
Sequence conflict4031H → Y in BAA91175. Ref.1
Sequence conflict4031H → Y in AAW78547. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 15, 2008. Version 2.
Checksum: A104DDC11ABD241E

FASTA42546,941
        10         20         30         40         50         60 
MASSIICQEH CQISGQAKID ILLVGDVTVG YLADTVQKLF ANIAEVTITI SDTKEAAALL 

        70         80         90        100        110        120 
DDCIFNMVLL KVPSSLSAEE LEAIKLIRFG KKKNTHSLFV FIIPENFKGC ISGHGMDIAL 

       130        140        150        160        170        180 
TEPLTMEKMS NVVKYWTTCP SNTVKTENAT GPEELGLPLQ RSYSEHLGYF PTDLFACSES 

       190        200        210        220        230        240 
LRNGNGLELN ASLSEFEKNK KISLLHSSKE KLRRERIKYC CEQLRTLLPY VKGRKNDAAS 

       250        260        270        280        290        300 
VLEATVDYVK YIREKISPAV MAQITEALQS NMRFCKKQQT PIELSLPGTV MAQRENSVMS 

       310        320        330        340        350        360 
TYSPERGLQF LTNTCWNGCS TPDAESSLDE AVRVPSSSAS ENAIGDPYKT HISSAALSLN 

       370        380        390        400        410        420 
SLHTVRYYSK VTPSYDATAV TNQNISIHLP SAMPPVSKLL PRHCTSGLGQ TCTTHPNCLQ 


QFWAY 

« Hide

Isoform 2 [UniParc].

Checksum: B6A72EB05C440E07
Show »

FASTA22525,058
Isoform 3 [UniParc].

Checksum: E34FE232749ABFB5
Show »

FASTA50256,199

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
Tissue: Testis.
[2]"The DNA sequence and analysis of human chromosome 13."
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Testis.
[5]"Identification and functional characterization of two novel bHLH family members."
Smas C.M.
Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 24-425 (ISOFORM 1).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK000456 mRNA. Translation: BAA91175.1.
AK301863 mRNA. Translation: BAG63302.1.
AL139377 Genomic DNA. No translation available.
AL160392 Genomic DNA. Translation: CAC42466.1.
CH471075 Genomic DNA. Translation: EAX08554.1.
CH471075 Genomic DNA. Translation: EAX08555.1.
BC025383 mRNA. Translation: AAH25383.1.
AY884305 mRNA. Translation: AAW78547.1.
CCDSCCDS61309.1. [Q9NX45-2]
CCDS9355.1. [Q9NX45-1]
RefSeqNP_001185839.1. NM_001198910.1. [Q9NX45-3]
NP_001269076.1. NM_001282147.1. [Q9NX45-2]
NP_060296.2. NM_017826.2. [Q9NX45-1]
UniGeneHs.124519.

3D structure databases

ProteinModelPortalQ9NX45.
SMRQ9NX45. Positions 204-254.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120277. 2 interactions.
IntActQ9NX45. 1 interaction.
MINTMINT-1469969.
STRING9606.ENSP00000369210.

PTM databases

PhosphoSiteQ9NX45.

Polymorphism databases

DMDM166200297.

Proteomic databases

PaxDbQ9NX45.
PRIDEQ9NX45.

Protocols and materials databases

DNASU54937.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000317764; ENSP00000326838; ENSG00000120669. [Q9NX45-2]
ENST00000379881; ENSP00000369210; ENSG00000120669. [Q9NX45-1]
ENST00000554962; ENSP00000451542; ENSG00000120669. [Q9NX45-3]
GeneID100526761.
54937.
KEGGhsa:100526761.
hsa:54937.
UCSCuc001uvj.3. human. [Q9NX45-1]
uc010tei.2. human. [Q9NX45-3]

Organism-specific databases

CTD100526761.
54937.
GeneCardsGC13M036742.
HGNCHGNC:26026. SOHLH2.
HPAHPA029182.
neXtProtNX_Q9NX45.
PharmGKBPA144596273.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG25623.
HOGENOMHOG000070147.
HOVERGENHBG103652.
InParanoidQ9NX45.
OMALPQHCNS.
OrthoDBEOG7HB59C.
PhylomeDBQ9NX45.
TreeFamTF336841.

Gene expression databases

BgeeQ9NX45.
CleanExHS_SOHLH2.
GenevestigatorQ9NX45.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
[Graphical view]
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSOHLH2. human.
NextBio58058.
PROQ9NX45.

Entry information

Entry nameSOLH2_HUMAN
AccessionPrimary (citable) accession number: Q9NX45
Secondary accession number(s): B4DX90 expand/collapse secondary AC list , Q5EGC3, Q8TC74, Q96QX4
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: July 9, 2014
This is version 96 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM