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P81133

- SIM1_HUMAN

UniProt

P81133 - SIM1_HUMAN

Protein

Single-minded homolog 1

Gene

SIM1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 2 (27 Jun 2006)
      Previous versions | rss
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    Functioni

    Transcriptional factor that may have pleiotropic effects during embryogenesis and in the adult.

    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. nervous system development Source: ProtInc
    3. transcription, DNA-templated Source: UniProtKB-KW
    4. ureteric bud development Source: Ensembl

    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 1
    Alternative name(s):
    Class E basic helix-loop-helix protein 14
    Short name:
    bHLHe14
    Gene namesi
    Name:SIM1
    Synonyms:BHLHE14
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:10882. SIM1.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti171829. 6q16 deletion syndrome.
    369873. Obesity due to SIM1 deficiency.
    PharmGKBiPA35782.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 766766Single-minded homolog 1PRO_0000127439Add
    BLAST

    Proteomic databases

    PaxDbiP81133.
    PRIDEiP81133.

    PTM databases

    PhosphoSiteiP81133.

    Expressioni

    Gene expression databases

    BgeeiP81133.
    CleanExiHS_SIM1.
    GenevestigatoriP81133.

    Organism-specific databases

    HPAiHPA002084.
    HPA024385.

    Interactioni

    Subunit structurei

    Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer of SIM1 and ARNT.

    Protein-protein interaction databases

    BioGridi112383. 2 interactions.
    STRINGi9606.ENSP00000262901.

    Structurei

    3D structure databases

    ProteinModelPortaliP81133.
    SMRiP81133. Positions 2-333.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1 – 5353bHLHPROSITE-ProRule annotationAdd
    BLAST
    Domaini77 – 14771PAS 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini218 – 28871PAS 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini292 – 33544PACAdd
    BLAST
    Domaini336 – 766431Single-minded C-terminalPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi368 – 38720Nuclear localization signalBy similarityAdd
    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.
    HOGENOMiHOG000236298.
    HOVERGENiHBG003936.
    InParanoidiP81133.
    KOiK09100.
    OMAiGEVCHSS.
    OrthoDBiEOG790G0R.
    PhylomeDBiP81133.
    TreeFamiTF317772.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    IPR001610. PAC.
    IPR000014. PAS.
    IPR013767. PAS_fold.
    IPR013655. PAS_fold_3.
    IPR010578. SIM_C.
    [Graphical view]
    PfamiPF00010. HLH. 1 hit.
    PF00989. 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]

    Sequencei

    Sequence statusi: Complete.

    P81133-1 [UniParc]FASTAAdd to Basket

    « Hide

    MKEKSKNAAR TRREKENSEF YELAKLLPLP SAITSQLDKA SIIRLTTSYL    50
    KMRVVFPEGL GEAWGHSSRT SPLDNVGREL GSHLLQTLDG FIFVVAPDGK 100
    IMYISETASV HLGLSQVELT GNSIYEYIHP ADHDEMTAVL TAHQPYHSHF 150
    VQEYEIERSF FLRMKCVLAK RNAGLTCGGY KVIHCSGYLK IRQYSLDMSP 200
    FDGCYQNVGL VAVGHSLPPS AVTEIKLHSN MFMFRASLDM KLIFLDSRVA 250
    ELTGYEPQDL IEKTLYHHVH GCDTFHLRCA HHLLLVKGQV TTKYYRFLAK 300
    HGGWVWVQSY ATIVHNSRSS RPHCIVSVNY VLTDTEYKGL QLSLDQISAS 350
    KPAFSYTSSS TPTMTDNRKG AKSRLSSSKS KSRTSPYPQY SGFHTERSES 400
    DHDSQWGGSP LTDTASPQLL DPADRPGSQH DASCAYRQFS DRSSLCYGFA 450
    LDHSRLVEER HFHTQACEGG RCEAGRYFLG TPQAGREPWW GSRAALPLTK 500
    ASPESREAYE NSMPHIASVH RIHGRGHWDE DSVVSSPDPG SASESGDRYR 550
    TEQYQSSPHE PSKIETLIRA TQQMIKEEEN RLQLRKAPSD QLASINGAGK 600
    KHSLCFANYQ QPPPTGEVCH GSALANTSPC DHIQQREGKM LSPHENDYDN 650
    SPTALSRISS PNSDRISKSS LILAKDYLHS DISPHQTAGD HPTVSPNCFG 700
    SHRQYFDKHA YTLTGYALEH LYDSETIRNY SLGCNGSHFD VTSHLRMQPD 750
    PAQGHKGTSV IITNGS 766
    Length:766
    Mass (Da):85,515
    Last modified:June 27, 2006 - v2
    Checksum:i05988D428A84431F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti30 – 301P → A in AAB62395. (PubMed:9199934)Curated
    Sequence conflicti37 – 371L → V in AAB62395. (PubMed:9199934)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti175 – 1751L → F.
    Corresponds to variant rs438766 [ dbSNP | Ensembl ].
    VAR_049549
    Natural varianti352 – 3521P → T.
    Corresponds to variant rs3734354 [ dbSNP | Ensembl ].
    VAR_034496
    Natural varianti371 – 3711A → V.
    Corresponds to variant rs3734355 [ dbSNP | Ensembl ].
    VAR_034497

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U70212 mRNA. Translation: AAB62395.1.
    AL121948, Z86062 Genomic DNA. Translation: CAI20423.1.
    Z86062, AL121948 Genomic DNA. Translation: CAI19455.1.
    CCDSiCCDS5045.1.
    RefSeqiNP_005059.2. NM_005068.2.
    XP_005267157.1. XM_005267100.1.
    UniGeneiHs.520293.

    Genome annotation databases

    EnsembliENST00000262901; ENSP00000262901; ENSG00000112246.
    ENST00000369208; ENSP00000358210; ENSG00000112246.
    GeneIDi6492.
    KEGGihsa:6492.
    UCSCiuc003pqj.4. human.

    Polymorphism databases

    DMDMi109940166.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U70212 mRNA. Translation: AAB62395.1 .
    AL121948 , Z86062 Genomic DNA. Translation: CAI20423.1 .
    Z86062 , AL121948 Genomic DNA. Translation: CAI19455.1 .
    CCDSi CCDS5045.1.
    RefSeqi NP_005059.2. NM_005068.2.
    XP_005267157.1. XM_005267100.1.
    UniGenei Hs.520293.

    3D structure databases

    ProteinModelPortali P81133.
    SMRi P81133. Positions 2-333.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112383. 2 interactions.
    STRINGi 9606.ENSP00000262901.

    PTM databases

    PhosphoSitei P81133.

    Polymorphism databases

    DMDMi 109940166.

    Proteomic databases

    PaxDbi P81133.
    PRIDEi P81133.

    Protocols and materials databases

    DNASUi 6492.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262901 ; ENSP00000262901 ; ENSG00000112246 .
    ENST00000369208 ; ENSP00000358210 ; ENSG00000112246 .
    GeneIDi 6492.
    KEGGi hsa:6492.
    UCSCi uc003pqj.4. human.

    Organism-specific databases

    CTDi 6492.
    GeneCardsi GC06M100882.
    HGNCi HGNC:10882. SIM1.
    HPAi HPA002084.
    HPA024385.
    MIMi 603128. gene.
    neXtProti NX_P81133.
    Orphaneti 171829. 6q16 deletion syndrome.
    369873. Obesity due to SIM1 deficiency.
    PharmGKBi PA35782.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG310284.
    HOGENOMi HOG000236298.
    HOVERGENi HBG003936.
    InParanoidi P81133.
    KOi K09100.
    OMAi GEVCHSS.
    OrthoDBi EOG790G0R.
    PhylomeDBi P81133.
    TreeFami TF317772.

    Miscellaneous databases

    ChiTaRSi SIM1. human.
    GeneWikii SIM1.
    GenomeRNAii 6492.
    NextBioi 25231.
    PROi P81133.
    SOURCEi Search...

    Gene expression databases

    Bgeei P81133.
    CleanExi HS_SIM1.
    Genevestigatori P81133.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    IPR001610. PAC.
    IPR000014. PAS.
    IPR013767. PAS_fold.
    IPR013655. PAS_fold_3.
    IPR010578. SIM_C.
    [Graphical view ]
    Pfami PF00010. HLH. 1 hit.
    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 [MRNA].
    2. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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.

    Entry informationi

    Entry nameiSIM1_HUMAN
    AccessioniPrimary (citable) accession number: P81133
    Secondary accession number(s): Q5TDP7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: June 27, 2006
    Last modified: October 1, 2014
    This is version 137 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 6
      Human chromosome 6: 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