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Q9NX45

- SOLH2_HUMAN

UniProt

Q9NX45 - SOLH2_HUMAN

Protein

Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2

Gene

SOHLH2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 2 (15 Jan 2008)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW

    GO - Biological processi

    1. multicellular organismal development Source: UniProtKB-KW
    2. oogenesis Source: UniProtKB-KW
    3. regulation of transcription, DNA-templated Source: UniProtKB-KW
    4. spermatogenesis Source: UniProtKB-KW
    5. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Oogenesis, Spermatogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2
    Gene namesi
    Name:SOHLH2
    Synonyms:TEB1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:26026. SOHLH2.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA144596273.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 425425Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2PRO_0000315700Add
    BLAST

    Proteomic databases

    PaxDbiQ9NX45.
    PRIDEiQ9NX45.

    PTM databases

    PhosphoSiteiQ9NX45.

    Expressioni

    Gene expression databases

    BgeeiQ9NX45.
    CleanExiHS_SOHLH2.
    GenevestigatoriQ9NX45.

    Organism-specific databases

    HPAiHPA029182.

    Interactioni

    Protein-protein interaction databases

    BioGridi120277. 2 interactions.
    IntActiQ9NX45. 1 interaction.
    MINTiMINT-1469969.
    STRINGi9606.ENSP00000369210.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NX45.
    SMRiQ9NX45. Positions 204-254.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini201 – 25252bHLHPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG25623.
    HOGENOMiHOG000070147.
    HOVERGENiHBG103652.
    InParanoidiQ9NX45.
    OMAiLPQHCNS.
    OrthoDBiEOG7HB59C.
    PhylomeDBiQ9NX45.
    TreeFamiTF336841.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    [Graphical view]
    PfamiPF00010. HLH. 1 hit.
    [Graphical view]
    SMARTiSM00353. HLH. 1 hit.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NX45-1) [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

    MASSIICQEH CQISGQAKID ILLVGDVTVG YLADTVQKLF ANIAEVTITI    50
    SDTKEAAALL DDCIFNMVLL KVPSSLSAEE LEAIKLIRFG KKKNTHSLFV 100
    FIIPENFKGC ISGHGMDIAL TEPLTMEKMS NVVKYWTTCP SNTVKTENAT 150
    GPEELGLPLQ RSYSEHLGYF PTDLFACSES LRNGNGLELN ASLSEFEKNK 200
    KISLLHSSKE KLRRERIKYC CEQLRTLLPY VKGRKNDAAS VLEATVDYVK 250
    YIREKISPAV MAQITEALQS NMRFCKKQQT PIELSLPGTV MAQRENSVMS 300
    TYSPERGLQF LTNTCWNGCS TPDAESSLDE AVRVPSSSAS ENAIGDPYKT 350
    HISSAALSLN SLHTVRYYSK VTPSYDATAV TNQNISIHLP SAMPPVSKLL 400
    PRHCTSGLGQ TCTTHPNCLQ QFWAY 425
    Length:425
    Mass (Da):46,941
    Last modified:January 15, 2008 - v2
    Checksum:iA104DDC11ABD241E
    GO
    Isoform 2 (identifier: Q9NX45-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         215-225: ERIKYCCEQLR → LYRKHSSFCFW
         226-425: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:225
    Mass (Da):25,058
    Checksum:iB6A72EB05C440E07
    GO
    Isoform 3 (identifier: Q9NX45-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-16: MASSIICQEHCQISGQ → METLQESLNT...LLKEELDPLK

    Note: No experimental confirmation available.

    Show »
    Length:502
    Mass (Da):56,199
    Checksum:iE34FE232749ABFB5
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti211 – 2111K → N in BAA91175. (PubMed:14702039)Curated
    Sequence conflicti211 – 2111K → N in AAW78547. 1 PublicationCurated
    Sequence conflicti312 – 3121T → A in BAA91175. (PubMed:14702039)Curated
    Sequence conflicti312 – 3121T → A in AAW78547. 1 PublicationCurated
    Sequence conflicti403 – 4031H → Y in BAA91175. (PubMed:14702039)Curated
    Sequence conflicti403 – 4031H → Y in AAW78547. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti14 – 141S → L.
    Corresponds to variant rs12873478 [ dbSNP | Ensembl ].
    VAR_038283
    Natural varianti339 – 3391A → T.
    Corresponds to variant rs2296968 [ dbSNP | Ensembl ].
    VAR_038284

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1616MASSI…QISGQ → METLQESLNTLLKQLEEEKK TLESQVKYYALKLEQESKAY QKINNERRTYLAEMSQGSGL HQVSKRQQVDQLPRMQENLV KTLLLKEELDPLK in isoform 3. 1 PublicationVSP_042423Add
    BLAST
    Alternative sequencei215 – 22511ERIKYCCEQLR → LYRKHSSFCFW in isoform 2. 1 PublicationVSP_030652Add
    BLAST
    Alternative sequencei226 – 425200Missing in isoform 2. 1 PublicationVSP_030653Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS61309.1. [Q9NX45-2]
    CCDS9355.1. [Q9NX45-1]
    RefSeqiNP_001185839.1. NM_001198910.1. [Q9NX45-3]
    NP_001269076.1. NM_001282147.1. [Q9NX45-2]
    NP_060296.2. NM_017826.2. [Q9NX45-1]
    UniGeneiHs.124519.

    Genome annotation databases

    EnsembliENST00000317764; ENSP00000326838; ENSG00000120669. [Q9NX45-2]
    ENST00000379881; ENSP00000369210; ENSG00000120669. [Q9NX45-1]
    GeneIDi100526761.
    54937.
    KEGGihsa:100526761.
    hsa:54937.
    UCSCiuc001uvj.3. human. [Q9NX45-1]
    uc010tei.2. human. [Q9NX45-3]

    Polymorphism databases

    DMDMi166200297.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS61309.1. [Q9NX45-2 ]
    CCDS9355.1. [Q9NX45-1 ]
    RefSeqi NP_001185839.1. NM_001198910.1. [Q9NX45-3 ]
    NP_001269076.1. NM_001282147.1. [Q9NX45-2 ]
    NP_060296.2. NM_017826.2. [Q9NX45-1 ]
    UniGenei Hs.124519.

    3D structure databases

    ProteinModelPortali Q9NX45.
    SMRi Q9NX45. Positions 204-254.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120277. 2 interactions.
    IntActi Q9NX45. 1 interaction.
    MINTi MINT-1469969.
    STRINGi 9606.ENSP00000369210.

    PTM databases

    PhosphoSitei Q9NX45.

    Polymorphism databases

    DMDMi 166200297.

    Proteomic databases

    PaxDbi Q9NX45.
    PRIDEi Q9NX45.

    Protocols and materials databases

    DNASUi 54937.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000317764 ; ENSP00000326838 ; ENSG00000120669 . [Q9NX45-2 ]
    ENST00000379881 ; ENSP00000369210 ; ENSG00000120669 . [Q9NX45-1 ]
    GeneIDi 100526761.
    54937.
    KEGGi hsa:100526761.
    hsa:54937.
    UCSCi uc001uvj.3. human. [Q9NX45-1 ]
    uc010tei.2. human. [Q9NX45-3 ]

    Organism-specific databases

    CTDi 100526761.
    54937.
    GeneCardsi GC13M036742.
    HGNCi HGNC:26026. SOHLH2.
    HPAi HPA029182.
    neXtProti NX_Q9NX45.
    PharmGKBi PA144596273.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG25623.
    HOGENOMi HOG000070147.
    HOVERGENi HBG103652.
    InParanoidi Q9NX45.
    OMAi LPQHCNS.
    OrthoDBi EOG7HB59C.
    PhylomeDBi Q9NX45.
    TreeFami TF336841.

    Miscellaneous databases

    ChiTaRSi SOHLH2. human.
    NextBioi 58058.
    PROi Q9NX45.

    Gene expression databases

    Bgeei Q9NX45.
    CleanExi HS_SOHLH2.
    Genevestigatori Q9NX45.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    [Graphical view ]
    Pfami PF00010. HLH. 1 hit.
    [Graphical view ]
    SMARTi SM00353. HLH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    PROSITEi PS50888. BHLH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. 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).

    Entry informationi

    Entry nameiSOLH2_HUMAN
    AccessioniPrimary (citable) accession number: Q9NX45
    Secondary accession number(s): B4DX90
    , Q5EGC3, Q8TC74, Q96QX4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: January 15, 2008
    Last modified: October 1, 2014
    This is version 97 of the entry and version 2 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 13
      Human chromosome 13: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3