Q9NX45 (SOLH2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2

Gene names

Name:	SOHLH2
Synonyms:	TEB1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	425 AA.
Sequence status	Complete.
Protein existence	Evidence 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

Keywords
Biological process	Differentiation Oogenesis Spermatogenesis Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW oogenesis Inferred from electronic annotation. Source: UniProtKB-KW regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW spermatogenesis Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 425	425	Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2		PRO_0000315700
Regions
	Domain	201 – 252	52	bHLH
Natural variations
	Alternative sequence	1 – 16	16	MASSI…QISGQ → METLQESLNTLLKQLEEEKK TLESQVKYYALKLEQESKAY QKINNERRTYLAEMSQGSGL HQVSKRQQVDQLPRMQENLV KTLLLKEELDPLK in isoform 3.		VSP_042423
	Alternative sequence	215 – 225	11	ERIKYCCEQLR → LYRKHSSFCFW in isoform 2.		VSP_030652
	Alternative sequence	226 – 425	200	Missing in isoform 2.		VSP_030653
	Natural variant	14	1	S → L. Corresponds to variant rs12873478 [ dbSNP | Ensembl ].		VAR_038283
	Natural variant	339	1	A → T. Corresponds to variant rs2296968 [ dbSNP | Ensembl ].		VAR_038284
Experimental info
	Sequence conflict	211	1	K → N in BAA91175. Ref.1
	Sequence conflict	211	1	K → N in AAW78547. Ref.5
	Sequence conflict	312	1	T → A in BAA91175. Ref.1
	Sequence conflict	312	1	T → A in AAW78547. Ref.5
	Sequence conflict	403	1	H → Y in BAA91175. Ref.1
	Sequence conflict	403	1	H → Y in AAW78547. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 15, 2008. Version 2. Checksum: A104DDC11ABD241E	FASTA	425	46,941
	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
	Isoform 2 [UniParc]. Checksum: B6A72EB05C440E07	FASTA	225	25,058
	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 LRNGNGLELN ASLSEFEKNK KISLLHSSKE KLRRLYRKHS SFCFW
	Isoform 3 [UniParc]. Checksum: E34FE232749ABFB5	FASTA	502	56,199
	10 20 30 40 50 60 METLQESLNT LLKQLEEEKK TLESQVKYYA LKLEQESKAY QKINNERRTY LAEMSQGSGL 70 80 90 100 110 120 HQVSKRQQVD QLPRMQENLV KTLLLKEELD PLKAKIDILL VGDVTVGYLA DTVQKLFANI 130 140 150 160 170 180 AEVTITISDT KEAAALLDDC IFNMVLLKVP SSLSAEELEA IKLIRFGKKK NTHSLFVFII 190 200 210 220 230 240 PENFKGCISG HGMDIALTEP LTMEKMSNVV KYWTTCPSNT VKTENATGPE ELGLPLQRSY 250 260 270 280 290 300 SEHLGYFPTD LFACSESLRN GNGLELNASL SEFEKNKKIS LLHSSKEKLR RERIKYCCEQ 310 320 330 340 350 360 LRTLLPYVKG RKNDAASVLE ATVDYVKYIR EKISPAVMAQ ITEALQSNMR FCKKQQTPIE 370 380 390 400 410 420 LSLPGTVMAQ RENSVMSTYS PERGLQFLTN TCWNGCSTPD AESSLDEAVR VPSSSASENA 430 440 450 460 470 480 IGDPYKTHIS SAALSLNSLH TVRYYSKVTP SYDATAVTNQ NISIHLPSAM PPVSKLLPRH 490 500 CTSGLGQTCT THPNCLQQFW AY

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.
IPI	IPI00844551. IPI00942235.
RefSeq	NP_001185839.1. NM_001198910.1. NP_060296.2. NM_017826.2.
UniGene	Hs.124519.
3D structure databases
ProteinModelPortal	Q9NX45.
SMR	Q9NX45. Positions 205-256.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NX45. 1 interaction.
MINT	MINT-1469969.
STRING	9606.ENSP00000369210.
PTM databases
PhosphoSite	Q9NX45.
Polymorphism databases
DMDM	166200297.
Proteomic databases
PaxDb	Q9NX45.
PRIDE	Q9NX45.
Protocols and materials databases
DNASU	54937.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000317764; ENSP00000326838; ENSG00000120669. ENST00000379881; ENSP00000369210; ENSG00000120669. ENST00000554962; ENSP00000451542; ENSG00000120669.
GeneID	100526761. 54937.
KEGG	hsa:100526761. hsa:54937.
UCSC	uc001uvj.3. human.
Organism-specific databases
CTD	100526761. 54937.
GeneCards	GC13M036742. GC13M036745.
HGNC	HGNC:26026. SOHLH2.
HPA	HPA029182.
neXtProt	NX_Q9NX45.
PharmGKB	PA144596273.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG25623.
HOGENOM	HOG000070147.
HOVERGEN	HBG103652.
InParanoid	Q9NX45.
OMA	CCEQLRT.
OrthoDB	EOG41VK34.
PhylomeDB	Q9NX45.
Gene expression databases
Bgee	Q9NX45.
CleanEx	HS_SOHLH2.
Genevestigator	Q9NX45.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. [Graphical view]
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	SOHLH2. human.
NextBio	58058.

Entry information

Entry name

SOLH2_HUMAN

Accession

Primary (citable) accession number: Q9NX45
Secondary accession number(s): B4DX90 , Q5EGC3, Q8TC74, Q96QX4

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
Last sequence update:	January 15, 2008
Last modified:	May 1, 2013
This is version 85 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.