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Protein

Single-minded homolog 1

Gene

SIM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • DNA binding Source: ProtInc
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: GO_Central
  • transcription factor activity, sequence-specific DNA binding Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112246-MONOMER.
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

HGNCiHGNC:10882. SIM1.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

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 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.

PTM databases

iPTMnetiP81133.
PhosphoSitePlusiP81133.

Expressioni

Gene expression databases

BgeeiENSG00000112246.
CleanExiHS_SIM1.
GenevisibleiP81133. HS.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi112383. 2 interactors.
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

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

eggNOGiKOG3559. Eukaryota.
ENOG410XY57. LUCA.
GeneTreeiENSGT00760000118788.
HOGENOMiHOG000236298.
HOVERGENiHBG003936.
InParanoidiP81133.
KOiK09100.
OMAiGEVCHSS.
OrthoDBiEOG091G06FQ.
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)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 rs438766dbSNPEnsembl.1
Natural variantiVAR_034496352P → T.Corresponds to variant rs3734354dbSNPEnsembl.1
Natural variantiVAR_034497371A → V.Corresponds to variant rs3734355dbSNPEnsembl.1

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_005267100.2.
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

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.
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. 2 interactors.
STRINGi9606.ENSP00000262901.

PTM databases

iPTMnetiP81133.
PhosphoSitePlusiP81133.

Polymorphism and mutation databases

BioMutaiSIM1.
DMDMi109940166.

Proteomic databases

PaxDbiP81133.
PeptideAtlasiP81133.
PRIDEiP81133.

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

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112246-MONOMER.
SIGNORiP81133.

Miscellaneous databases

ChiTaRSiSIM1. human.
GeneWikiiSIM1.
GenomeRNAii6492.
PROiP81133.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112246.
CleanExiHS_SIM1.
GenevisibleiP81133. HS.

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]
ProtoNetiSearch...

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: November 2, 2016
This is version 154 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.