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Q14190

- SIM2_HUMAN

UniProt

Q14190 - SIM2_HUMAN

Protein

Single-minded homolog 2

Gene

SIM2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 147 (01 Oct 2014)
      Sequence version 2 (15 Jul 1998)
      Previous versions | rss
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    Functioni

    Transcription factor that may be a master gene of CNS development in cooperation with Arnt. It may have pleiotropic effects in the tissues expressed during development.

    GO - Molecular functioni

    1. DNA binding Source: ProtInc
    2. sequence-specific DNA binding transcription factor activity Source: ProtInc
    3. signal transducer activity Source: InterPro

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. embryonic pattern specification Source: Ensembl
    3. lung development Source: Ensembl
    4. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    5. nervous system development Source: ProtInc
    6. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Neurogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Single-minded homolog 2
    Alternative name(s):
    Class E basic helix-loop-helix protein 15
    Short name:
    bHLHe15
    Gene namesi
    Name:SIM2
    Synonyms:BHLHE15
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:10883. SIM2.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: HPA

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi367 – 3671R → A or G: Reduced nuclear translocation. 1 Publication
    Mutagenesisi368 – 3681K → A: No effect on nuclear translocation. 1 Publication
    Mutagenesisi369 – 3691L → A: No effect on nuclear translocation. 1 Publication
    Mutagenesisi370 – 3701V → A: No effect on nuclear translocation. 1 Publication
    Mutagenesisi371 – 3711K → A: No effect on nuclear translocation. 1 Publication
    Mutagenesisi372 – 3721P → A: No effect on nuclear translocation. 1 Publication
    Mutagenesisi373 – 3731K → A or G: Reduced nuclear translocation. 1 Publication
    Mutagenesisi375 – 3751T → A: No effect on nuclear translocation. 1 Publication
    Mutagenesisi376 – 3761K → A: No effect on nuclear translocation. 1 Publication
    Mutagenesisi377 – 3771M → A: No effect on nuclear translocation. 1 Publication
    Mutagenesisi378 – 3781K → G: No effect on nuclear translocation. 1 Publication
    Mutagenesisi379 – 3791T → A: No effect on nuclear translocation. 1 Publication
    Mutagenesisi380 – 3801K → A: No effect on nuclear translocation. 1 Publication
    Mutagenesisi381 – 3811L → A: No effect on nuclear translocation. 1 Publication
    Mutagenesisi382 – 3821R → A: No effect on nuclear translocation. 1 Publication
    Mutagenesisi383 – 3831T → A: No effect on nuclear translocation. 1 Publication
    Mutagenesisi385 – 3851P → A: Reduced nuclear translocation. 1 Publication
    Mutagenesisi386 – 3861Y → A: Reduced nuclear translocation. 1 Publication

    Organism-specific databases

    PharmGKBiPA35783.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 667667Single-minded homolog 2PRO_0000127441Add
    BLAST

    Proteomic databases

    PaxDbiQ14190.
    PRIDEiQ14190.

    PTM databases

    PhosphoSiteiQ14190.

    Expressioni

    Gene expression databases

    BgeeiQ14190.
    CleanExiHS_SIM2.
    GenevestigatoriQ14190.

    Organism-specific databases

    HPAiHPA029295.

    Interactioni

    Subunit structurei

    Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer of SIM2 and ARNT.

    Protein-protein interaction databases

    BioGridi112384. 7 interactions.
    IntActiQ14190. 26 interactions.
    MINTiMINT-7006105.
    STRINGi9606.ENSP00000290399.

    Structurei

    3D structure databases

    ProteinModelPortaliQ14190.
    SMRiQ14190. Positions 2-333.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1 – 5353bHLHPROSITE-ProRule annotationAdd
    BLAST
    Domaini77 – 14973PAS 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini218 – 28871PAS 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini292 – 33544PACAdd
    BLAST
    Domaini336 – 667332Single-minded C-terminalPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi367 – 38620Nuclear localization signal1 PublicationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation
    Contains 2 PAS (PER-ARNT-SIM) domains.PROSITE-ProRule annotation
    Contains 1 Single-minded C-terminal domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG310284.
    HOVERGENiHBG003936.
    InParanoidiQ14190.
    KOiK09100.
    OMAiSDLLYAP.
    OrthoDBiEOG790G0R.
    PhylomeDBiQ14190.
    TreeFamiTF317772.

    Family and domain databases

    InterProiIPR011598. bHLH_dom.
    IPR001610. PAC.
    IPR000014. PAS.
    IPR013767. PAS_fold.
    IPR013655. PAS_fold_3.
    IPR010578. SIM_C.
    [Graphical view]
    PfamiPF00989. PAS. 1 hit.
    PF08447. PAS_3. 1 hit.
    PF06621. SIM_C. 1 hit.
    [Graphical view]
    SMARTiSM00353. HLH. 1 hit.
    SM00086. PAC. 1 hit.
    SM00091. PAS. 2 hits.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    SSF55785. SSF55785. 2 hits.
    PROSITEiPS50888. BHLH. 1 hit.
    PS50112. PAS. 2 hits.
    PS51302. SIM_C. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform SIM2 (identifier: Q14190-1) [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

    MKEKSKNAAK TRREKENGEF YELAKLLPLP SAITSQLDKA SIIRLTTSYL    50
    KMRAVFPEGL GDAWGQPSRA GPLDGVAKEL GSHLLQTLDG FVFVVASDGK 100
    IMYISETASV HLGLSQVELT GNSIYEYIHP SDHDEMTAVL TAHQPLHHHL 150
    LQEYEIERSF FLRMKCVLAK RNAGLTCSGY KVIHCSGYLK IRQYMLDMSL 200
    YDSCYQIVGL VAVGQSLPPS AITEIKLYSN MFMFRASLDL KLIFLDSRVT 250
    EVTGYEPQDL IEKTLYHHVH GCDVFHLRYA HHLLLVKGQV TTKYYRLLSK 300
    RGGWVWVQSY ATVVHNSRSS RPHCIVSVNY VLTEIEYKEL QLSLEQVSTA 350
    KSQDSWRTAL STSQETRKLV KPKNTKMKTK LRTNPYPPQQ YSSFQMDKLE 400
    CGQLGNWRAS PPASAAAPPE LQPHSESSDL LYTPSYSLPF SYHYGHFPLD 450
    SHVFSSKKPM LPAKFGQPQG SPCEVARFFL STLPASGECQ WHYANPLVPS 500
    SSSPAKNPPE PPANTARHSL VPSYEAPAAA VRRFGEDTAP PSFPSCGHYR 550
    EEPALGPAKA ARQAARDGAR LALARAAPEC CAPPTPEAPG APAQLPFVLL 600
    NYHRVLARRG PLGGAAPAAS GLACAPGGPE AATGALRLRH PSPAATSPPG 650
    APLPHYLGAS VIITNGR 667
    Length:667
    Mass (Da):73,219
    Last modified:July 15, 1998 - v2
    Checksum:iA100880541A74E6B
    GO
    Isoform SIM2S (identifier: Q14190-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         526-570: APAAAVRRFG...ARQAARDGAR → GGSGLLVGKV...GQTCPLSASK
         571-667: Missing.

    Show »
    Length:570
    Mass (Da):63,523
    Checksum:i8C68F4B8FD2823B0
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti183 – 1842IH → RI in BAA07909. (PubMed:7647800)Curated
    Sequence conflicti453 – 4531V → F in AAB62397. (PubMed:9503011)Curated
    Sequence conflicti453 – 4531V → F in CAA05055. (PubMed:9503011)Curated
    Sequence conflicti526 – 5261A → G in AAB62397. (PubMed:9503011)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti483 – 4831L → M.1 Publication
    Corresponds to variant rs2073601 [ dbSNP | Ensembl ].
    VAR_024281

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei526 – 57045APAAA…RDGAR → GGSGLLVGKVGGLRTAGSRS SHGGGWQMETEPSRFGQTCP LSASK in isoform SIM2S. 2 PublicationsVSP_002148Add
    BLAST
    Alternative sequencei571 – 66797Missing in isoform SIM2S. 2 PublicationsVSP_012767Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U80456 mRNA. Translation: AAB62396.1.
    U80457 mRNA. Translation: AAB62397.1.
    AB003185 Genomic DNA. Translation: BAA21489.1.
    AB003185 Genomic DNA. Translation: BAA21490.1.
    AP000697 Genomic DNA. Translation: BAA89433.1.
    AP001726 Genomic DNA. No translation available.
    CH471079 Genomic DNA. Translation: EAX09737.1.
    BC110444 mRNA. Translation: AAI10445.1.
    D85922 Genomic DNA. Translation: BAA12919.1.
    D44444 Genomic DNA. Translation: BAA07906.1.
    D44445 Genomic DNA. Translation: BAA07907.1.
    D44446 Genomic DNA. Translation: BAA07908.1.
    D44447 Genomic DNA. Translation: BAA07909.1.
    D44448 Genomic DNA. Translation: BAA07910.1.
    AJ001858 mRNA. Translation: CAA05055.1.
    X84790 mRNA. Translation: CAA59261.1.
    D70838 Genomic DNA. Translation: BAA11108.1.
    CCDSiCCDS13646.1. [Q14190-1]
    CCDS46647.1. [Q14190-2]
    PIRiA58520.
    I78525.
    I78526.
    RefSeqiNP_005060.1. NM_005069.3. [Q14190-1]
    NP_033664.2. NM_009586.2. [Q14190-2]
    UniGeneiHs.146186.

    Genome annotation databases

    EnsembliENST00000290399; ENSP00000290399; ENSG00000159263. [Q14190-1]
    GeneIDi6493.
    KEGGihsa:6493.
    UCSCiuc002yvq.3. human. [Q14190-2]
    uc002yvr.2. human. [Q14190-1]

    Polymorphism databases

    DMDMi2851630.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U80456 mRNA. Translation: AAB62396.1 .
    U80457 mRNA. Translation: AAB62397.1 .
    AB003185 Genomic DNA. Translation: BAA21489.1 .
    AB003185 Genomic DNA. Translation: BAA21490.1 .
    AP000697 Genomic DNA. Translation: BAA89433.1 .
    AP001726 Genomic DNA. No translation available.
    CH471079 Genomic DNA. Translation: EAX09737.1 .
    BC110444 mRNA. Translation: AAI10445.1 .
    D85922 Genomic DNA. Translation: BAA12919.1 .
    D44444 Genomic DNA. Translation: BAA07906.1 .
    D44445 Genomic DNA. Translation: BAA07907.1 .
    D44446 Genomic DNA. Translation: BAA07908.1 .
    D44447 Genomic DNA. Translation: BAA07909.1 .
    D44448 Genomic DNA. Translation: BAA07910.1 .
    AJ001858 mRNA. Translation: CAA05055.1 .
    X84790 mRNA. Translation: CAA59261.1 .
    D70838 Genomic DNA. Translation: BAA11108.1 .
    CCDSi CCDS13646.1. [Q14190-1 ]
    CCDS46647.1. [Q14190-2 ]
    PIRi A58520.
    I78525.
    I78526.
    RefSeqi NP_005060.1. NM_005069.3. [Q14190-1 ]
    NP_033664.2. NM_009586.2. [Q14190-2 ]
    UniGenei Hs.146186.

    3D structure databases

    ProteinModelPortali Q14190.
    SMRi Q14190. Positions 2-333.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112384. 7 interactions.
    IntActi Q14190. 26 interactions.
    MINTi MINT-7006105.
    STRINGi 9606.ENSP00000290399.

    PTM databases

    PhosphoSitei Q14190.

    Polymorphism databases

    DMDMi 2851630.

    Proteomic databases

    PaxDbi Q14190.
    PRIDEi Q14190.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000290399 ; ENSP00000290399 ; ENSG00000159263 . [Q14190-1 ]
    GeneIDi 6493.
    KEGGi hsa:6493.
    UCSCi uc002yvq.3. human. [Q14190-2 ]
    uc002yvr.2. human. [Q14190-1 ]

    Organism-specific databases

    CTDi 6493.
    GeneCardsi GC21P038071.
    HGNCi HGNC:10883. SIM2.
    HPAi HPA029295.
    MIMi 600892. gene.
    neXtProti NX_Q14190.
    PharmGKBi PA35783.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG310284.
    HOVERGENi HBG003936.
    InParanoidi Q14190.
    KOi K09100.
    OMAi SDLLYAP.
    OrthoDBi EOG790G0R.
    PhylomeDBi Q14190.
    TreeFami TF317772.

    Miscellaneous databases

    GeneWikii SIM2.
    GenomeRNAii 6493.
    NextBioi 25235.
    PROi Q14190.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q14190.
    CleanExi HS_SIM2.
    Genevestigatori Q14190.

    Family and domain databases

    InterProi IPR011598. bHLH_dom.
    IPR001610. PAC.
    IPR000014. PAS.
    IPR013767. PAS_fold.
    IPR013655. PAS_fold_3.
    IPR010578. SIM_C.
    [Graphical view ]
    Pfami PF00989. PAS. 1 hit.
    PF08447. PAS_3. 1 hit.
    PF06621. SIM_C. 1 hit.
    [Graphical view ]
    SMARTi SM00353. HLH. 1 hit.
    SM00086. PAC. 1 hit.
    SM00091. PAS. 2 hits.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    SSF55785. SSF55785. 2 hits.
    PROSITEi PS50888. BHLH. 1 hit.
    PS50112. PAS. 2 hits.
    PS51302. SIM_C. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region."
      Chrast R., Scott H.S., Chen H., Kudoh J., Rossier C., Minoshima S., Wang Y., Shimizu N., Antonarakis S.E.
      Genome Res. 7:615-624(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS SIM2 AND SIM2S).
    2. "Genomic sequencing of 1.2-Mb region on human chromosome 21q22.2."
      Shibuya K., Kudoh J., Minoshima S., Kawasaki K., Nakatoh E., Shintani A., Asakawa S., Shimizu N.
      Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "The DNA sequence of human chromosome 21."
      Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A.
      , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
      Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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 SIM2S).
    6. "A 19-kb CpG island associated with single-minded gene 2 in Down syndrome chromosomal region."
      Osoegawa K., Okano S., Kato Y., Nishimura Y., Soeda E.
      DNA Res. 3:175-179(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-247.
    7. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-58; 87-152; 183-247 AND 249-283.
    8. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 64-526, VARIANT MET-483.
      Tissue: Fetal brain and Muscle.
    9. "Down syndrome-critical region contains a gene homologous to Drosophila sim expressed during rat and human central nervous system development."
      Dahmane N., Charron G., Lopes C., Yaspo M.-L., Maunoury C., Decorte L., Sinet P.-M., Bloch B., Delabar J.-M.
      Proc. Natl. Acad. Sci. U.S.A. 92:9191-9195(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 87-116.
    10. "The mammalian single-minded (SIM) gene: mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome."
      Yamaki A., Noda S., Kudoh J., Shindoh N., Maeda H., Minoshima S., Kawasaki K., Shimizu Y., Shimizu N.
      Genomics 35:136-143(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 154-181.
    11. "A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM2."
      Yamaki A., Kudoh J., Shimizu N., Shimizu Y.
      Biochem. Biophys. Res. Commun. 313:482-488(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, NUCLEAR LOCALIZATION SIGNAL, MUTAGENESIS OF NUCLEAR LOCALIZATION SIGNAL.
    12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiSIM2_HUMAN
    AccessioniPrimary (citable) accession number: Q14190
    Secondary accession number(s): O60766
    , Q15470, Q15471, Q15472, Q15473, Q16532, Q2TBD8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: July 15, 1998
    Last modified: October 1, 2014
    This is version 147 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 21
      Human chromosome 21: 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

    External Data

    Dasty 3