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P81133 (SIM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 136. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Single-minded homolog 1
Alternative name(s):
Class E basic helix-loop-helix protein 14
Short name=bHLHe14
Gene names
Name:SIM1
Synonyms:BHLHE14
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length766 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Subunit structure

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

Subcellular location

Nucleus Potential Ref.3.

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Contains 1 PAC (PAS-associated C-terminal) domain.

Contains 2 PAS (PER-ARNT-SIM) domains.

Contains 1 Single-minded C-terminal domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 766766Single-minded homolog 1
PRO_0000127439

Regions

Domain1 – 5353bHLH
Domain77 – 14771PAS 1
Domain218 – 28871PAS 2
Domain292 – 33544PAC
Domain336 – 766431Single-minded C-terminal
Motif368 – 38720Nuclear localization signal By similarity

Natural variations

Natural variant1751L → F.
Corresponds to variant rs438766 [ dbSNP | Ensembl ].
VAR_049549
Natural variant3521P → T.
Corresponds to variant rs3734354 [ dbSNP | Ensembl ].
VAR_034496
Natural variant3711A → V.
Corresponds to variant rs3734355 [ dbSNP | Ensembl ].
VAR_034497

Experimental info

Sequence conflict301P → A in AAB62395. Ref.1
Sequence conflict371L → V in AAB62395. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P81133 [UniParc].

Last modified June 27, 2006. Version 2.
Checksum: 05988D428A84431F

FASTA76685,515
        10         20         30         40         50         60 
MKEKSKNAAR TRREKENSEF YELAKLLPLP SAITSQLDKA SIIRLTTSYL KMRVVFPEGL 

        70         80         90        100        110        120 
GEAWGHSSRT SPLDNVGREL GSHLLQTLDG FIFVVAPDGK IMYISETASV HLGLSQVELT 

       130        140        150        160        170        180 
GNSIYEYIHP ADHDEMTAVL TAHQPYHSHF VQEYEIERSF FLRMKCVLAK RNAGLTCGGY 

       190        200        210        220        230        240 
KVIHCSGYLK IRQYSLDMSP FDGCYQNVGL VAVGHSLPPS AVTEIKLHSN MFMFRASLDM 

       250        260        270        280        290        300 
KLIFLDSRVA ELTGYEPQDL IEKTLYHHVH GCDTFHLRCA HHLLLVKGQV TTKYYRFLAK 

       310        320        330        340        350        360 
HGGWVWVQSY ATIVHNSRSS RPHCIVSVNY VLTDTEYKGL QLSLDQISAS KPAFSYTSSS 

       370        380        390        400        410        420 
TPTMTDNRKG AKSRLSSSKS KSRTSPYPQY SGFHTERSES DHDSQWGGSP LTDTASPQLL 

       430        440        450        460        470        480 
DPADRPGSQH DASCAYRQFS DRSSLCYGFA LDHSRLVEER HFHTQACEGG RCEAGRYFLG 

       490        500        510        520        530        540 
TPQAGREPWW GSRAALPLTK ASPESREAYE NSMPHIASVH RIHGRGHWDE DSVVSSPDPG 

       550        560        570        580        590        600 
SASESGDRYR TEQYQSSPHE PSKIETLIRA TQQMIKEEEN RLQLRKAPSD QLASINGAGK 

       610        620        630        640        650        660 
KHSLCFANYQ QPPPTGEVCH GSALANTSPC DHIQQREGKM LSPHENDYDN SPTALSRISS 

       670        680        690        700        710        720 
PNSDRISKSS LILAKDYLHS DISPHQTAGD HPTVSPNCFG SHRQYFDKHA YTLTGYALEH 

       730        740        750        760 
LYDSETIRNY SLGCNGSHFD VTSHLRMQPD PAQGHKGTSV IITNGS 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U70212 mRNA. Translation: AAB62395.1.
AL121948, Z86062 Genomic DNA. Translation: CAI20423.1.
Z86062, AL121948 Genomic DNA. Translation: CAI19455.1.
CCDSCCDS5045.1.
RefSeqNP_005059.2. NM_005068.2.
XP_005267157.1. XM_005267100.1.
UniGeneHs.520293.

3D structure databases

ProteinModelPortalP81133.
SMRP81133. Positions 2-333.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112383. 2 interactions.
STRING9606.ENSP00000262901.

PTM databases

PhosphoSiteP81133.

Polymorphism databases

DMDM109940166.

Proteomic databases

PaxDbP81133.
PRIDEP81133.

Protocols and materials databases

DNASU6492.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000262901; ENSP00000262901; ENSG00000112246.
ENST00000369208; ENSP00000358210; ENSG00000112246.
GeneID6492.
KEGGhsa:6492.
UCSCuc003pqj.4. human.

Organism-specific databases

CTD6492.
GeneCardsGC06M100882.
HGNCHGNC:10882. SIM1.
HPAHPA002084.
HPA024385.
MIM603128. gene.
neXtProtNX_P81133.
Orphanet171829. 6q16 deletion syndrome.
369873. Obesity due to SIM1 deficiency.
PharmGKBPA35782.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG310284.
HOGENOMHOG000236298.
HOVERGENHBG003936.
InParanoidP81133.
KOK09100.
OMAGEVCHSS.
OrthoDBEOG790G0R.
PhylomeDBP81133.
TreeFamTF317772.

Gene expression databases

BgeeP81133.
CleanExHS_SIM1.
GenevestigatorP81133.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
IPR001610. PAC.
IPR000014. PAS.
IPR013767. PAS_fold.
IPR013655. PAS_fold_3.
IPR010578. SIM_C.
[Graphical view]
PfamPF00010. HLH. 1 hit.
PF00989. PAS. 1 hit.
PF08447. PAS_3. 1 hit.
PF06621. SIM_C. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
SM00086. PAC. 1 hit.
SM00091. PAS. 2 hits.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
SSF55785. SSF55785. 2 hits.
PROSITEPS50888. BHLH. 1 hit.
PS50112. PAS. 2 hits.
PS51302. SIM_C. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSIM1. human.
GeneWikiSIM1.
GenomeRNAi6492.
NextBio25231.
PROP81133.
SOURCESearch...

Entry information

Entry nameSIM1_HUMAN
AccessionPrimary (citable) accession number: P81133
Secondary accession number(s): Q5TDP7
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: June 27, 2006
Last modified: July 9, 2014
This is version 136 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM