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Protein

Single-minded homolog 1

Gene

SIM1

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

Functioni

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

SIGNORiP81133

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
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112246.9
HGNCiHGNC:10882 SIM1
MIMi603128 gene
neXtProtiNX_P81133

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi6492
MalaCardsiSIM1
OpenTargetsiENSG00000112246
Orphaneti171829 6q16 deletion syndrome
369873 Obesity due to SIM1 deficiency
398079 Prader-Willi-like syndrome due to a point mutation
PharmGKBiPA35782

Polymorphism and mutation databases

BioMutaiSIM1
DMDMi109940166

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001274391 – 766Single-minded homolog 1Add BLAST766

Proteomic databases

PaxDbiP81133
PeptideAtlasiP81133
PRIDEiP81133
ProteomicsDBi57691

PTM databases

iPTMnetiP81133
PhosphoSitePlusiP81133

Expressioni

Gene expression databases

BgeeiENSG00000112246 Expressed in 66 organ(s), highest expression level in quadriceps femoris
CleanExiHS_SIM1
GenevisibleiP81133 HS

Organism-specific databases

HPAiHPA024385

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer; forms a heterodimer with ARNT, ARNT2 (By similarity).By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112383, 4 interactors
IntActiP81133, 1 interactor
STRINGi9606.ENSP00000262901

Structurei

3D structure databases

ProteinModelPortaliP81133
SMRiP81133
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 53bHLHPROSITE-ProRule annotationAdd BLAST53
Domaini77 – 147PAS 1PROSITE-ProRule annotationAdd BLAST71
Domaini218 – 288PAS 2PROSITE-ProRule annotationAdd BLAST71
Domaini292 – 335PACAdd BLAST44
Domaini336 – 766Single-minded C-terminalPROSITE-ProRule annotationAdd BLAST431

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi368 – 387Nuclear localization signalBy similarityAdd BLAST20

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3559 Eukaryota
ENOG410XY57 LUCA
GeneTreeiENSGT00760000118788
HOGENOMiHOG000236298
HOVERGENiHBG003936
InParanoidiP81133
KOiK09100
OMAiERPGSQH
OrthoDBiEOG091G06FQ
PhylomeDBiP81133
TreeFamiTF317772

Family and domain databases

CDDicd00083 HLH, 1 hit
cd00130 PAS, 2 hits
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR001610 PAC
IPR000014 PAS
IPR035965 PAS-like_dom_sf
IPR013767 PAS_fold
IPR013655 PAS_fold_3
IPR010578 SIM_C
PfamiView protein in Pfam
PF00010 HLH, 1 hit
PF00989 PAS, 1 hit
PF08447 PAS_3, 1 hit
PF06621 SIM_C, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SM00086 PAC, 1 hit
SM00091 PAS, 2 hits
SUPFAMiSSF47459 SSF47459, 1 hit
SSF55785 SSF55785, 2 hits
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
PS50112 PAS, 2 hits
PS51302 SIM_C, 1 hit

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)DescriptionActionsGraphical viewLength
Sequence conflicti30P → A in AAB62395 (PubMed:9199934).Curated1
Sequence conflicti37L → V in AAB62395 (PubMed:9199934).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049549175L → F. Corresponds to variant dbSNP:rs438766Ensembl.1
Natural variantiVAR_034496352P → T. Corresponds to variant dbSNP:rs3734354EnsemblClinVar.1
Natural variantiVAR_034497371A → V. Corresponds to variant dbSNP:rs3734355EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U70212 mRNA Translation: AAB62395.1
AL121948 Genomic DNA No translation available.
Z86062 Genomic DNA No translation available.
CCDSiCCDS5045.1
RefSeqiNP_005059.2, NM_005068.2
XP_005267157.1, XM_005267100.2
XP_016866686.1, XM_017011197.1
UniGeneiHs.520293
Hs.735754

Genome annotation databases

EnsembliENST00000262901; ENSP00000262901; ENSG00000112246
ENST00000369208; ENSP00000358210; ENSG00000112246
GeneIDi6492
KEGGihsa:6492
UCSCiuc063qgu.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U70212 mRNA Translation: AAB62395.1
AL121948 Genomic DNA No translation available.
Z86062 Genomic DNA No translation available.
CCDSiCCDS5045.1
RefSeqiNP_005059.2, NM_005068.2
XP_005267157.1, XM_005267100.2
XP_016866686.1, XM_017011197.1
UniGeneiHs.520293
Hs.735754

3D structure databases

ProteinModelPortaliP81133
SMRiP81133
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112383, 4 interactors
IntActiP81133, 1 interactor
STRINGi9606.ENSP00000262901

PTM databases

iPTMnetiP81133
PhosphoSitePlusiP81133

Polymorphism and mutation databases

BioMutaiSIM1
DMDMi109940166

Proteomic databases

PaxDbiP81133
PeptideAtlasiP81133
PRIDEiP81133
ProteomicsDBi57691

Protocols and materials databases

DNASUi6492
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262901; ENSP00000262901; ENSG00000112246
ENST00000369208; ENSP00000358210; ENSG00000112246
GeneIDi6492
KEGGihsa:6492
UCSCiuc063qgu.1 human

Organism-specific databases

CTDi6492
DisGeNETi6492
EuPathDBiHostDB:ENSG00000112246.9
GeneCardsiSIM1
HGNCiHGNC:10882 SIM1
HPAiHPA024385
MalaCardsiSIM1
MIMi603128 gene
neXtProtiNX_P81133
OpenTargetsiENSG00000112246
Orphaneti171829 6q16 deletion syndrome
369873 Obesity due to SIM1 deficiency
398079 Prader-Willi-like syndrome due to a point mutation
PharmGKBiPA35782
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3559 Eukaryota
ENOG410XY57 LUCA
GeneTreeiENSGT00760000118788
HOGENOMiHOG000236298
HOVERGENiHBG003936
InParanoidiP81133
KOiK09100
OMAiERPGSQH
OrthoDBiEOG091G06FQ
PhylomeDBiP81133
TreeFamiTF317772

Enzyme and pathway databases

SIGNORiP81133

Miscellaneous databases

ChiTaRSiSIM1 human
GeneWikiiSIM1
GenomeRNAii6492
PROiPR:P81133
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112246 Expressed in 66 organ(s), highest expression level in quadriceps femoris
CleanExiHS_SIM1
GenevisibleiP81133 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
cd00130 PAS, 2 hits
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR001610 PAC
IPR000014 PAS
IPR035965 PAS-like_dom_sf
IPR013767 PAS_fold
IPR013655 PAS_fold_3
IPR010578 SIM_C
PfamiView protein in Pfam
PF00010 HLH, 1 hit
PF00989 PAS, 1 hit
PF08447 PAS_3, 1 hit
PF06621 SIM_C, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SM00086 PAC, 1 hit
SM00091 PAS, 2 hits
SUPFAMiSSF47459 SSF47459, 1 hit
SSF55785 SSF55785, 2 hits
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
PS50112 PAS, 2 hits
PS51302 SIM_C, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSIM1_HUMAN
AccessioniPrimary (citable) accession number: P81133
Secondary accession number(s): Q5TDP7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: June 27, 2006
Last modified: November 7, 2018
This is version 170 of the entry and version 2 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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