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P81133

- SIM1_HUMAN

UniProt

P81133 - SIM1_HUMAN

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Protein

Single-minded homolog 1

Gene

SIM1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

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
Complete GO annotation...

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-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

Orphaneti171829. 6q16 deletion syndrome.
369873. Obesity due to SIM1 deficiency.
398079. Prader-Willi-like syndrome due to point mutation.
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.
GeneTreeiENSGT00760000118788.
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

        10         20         30         40         50
MKEKSKNAAR TRREKENSEF YELAKLLPLP SAITSQLDKA SIIRLTTSYL
60 70 80 90 100
KMRVVFPEGL GEAWGHSSRT SPLDNVGREL GSHLLQTLDG FIFVVAPDGK
110 120 130 140 150
IMYISETASV HLGLSQVELT GNSIYEYIHP ADHDEMTAVL TAHQPYHSHF
160 170 180 190 200
VQEYEIERSF FLRMKCVLAK RNAGLTCGGY KVIHCSGYLK IRQYSLDMSP
210 220 230 240 250
FDGCYQNVGL VAVGHSLPPS AVTEIKLHSN MFMFRASLDM KLIFLDSRVA
260 270 280 290 300
ELTGYEPQDL IEKTLYHHVH GCDTFHLRCA HHLLLVKGQV TTKYYRFLAK
310 320 330 340 350
HGGWVWVQSY ATIVHNSRSS RPHCIVSVNY VLTDTEYKGL QLSLDQISAS
360 370 380 390 400
KPAFSYTSSS TPTMTDNRKG AKSRLSSSKS KSRTSPYPQY SGFHTERSES
410 420 430 440 450
DHDSQWGGSP LTDTASPQLL DPADRPGSQH DASCAYRQFS DRSSLCYGFA
460 470 480 490 500
LDHSRLVEER HFHTQACEGG RCEAGRYFLG TPQAGREPWW GSRAALPLTK
510 520 530 540 550
ASPESREAYE NSMPHIASVH RIHGRGHWDE DSVVSSPDPG SASESGDRYR
560 570 580 590 600
TEQYQSSPHE PSKIETLIRA TQQMIKEEEN RLQLRKAPSD QLASINGAGK
610 620 630 640 650
KHSLCFANYQ QPPPTGEVCH GSALANTSPC DHIQQREGKM LSPHENDYDN
660 670 680 690 700
SPTALSRISS PNSDRISKSS LILAKDYLHS DISPHQTAGD HPTVSPNCFG
710 720 730 740 750
SHRQYFDKHA YTLTGYALEH LYDSETIRNY SLGCNGSHFD VTSHLRMQPD
760
PAQGHKGTSV IITNGS
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 GC06M100834.
HGNCi HGNC:10882. SIM1.
HPAi HPA002084.
HPA024385.
MIMi 603128. gene.
neXtProti NX_P81133.
Orphaneti 171829. 6q16 deletion syndrome.
369873. Obesity due to SIM1 deficiency.
398079. Prader-Willi-like syndrome due to point mutation.
PharmGKBi PA35782.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG310284.
GeneTreei ENSGT00760000118788.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 138 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