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Q14190

- SIM2_HUMAN

UniProt

Q14190 - SIM2_HUMAN

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Protein

Single-minded homolog 2

Gene

SIM2

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

Functioni

Transcription factor that may be a master gene of CNS development in cooperation with Arnt. It may have pleiotropic effects in the tissues expressed during development.

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. embryonic pattern specification Source: Ensembl
  3. lung development Source: Ensembl
  4. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  5. nervous system development Source: ProtInc
  6. transcription, DNA-templated Source: UniProtKB-KW
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 2
Alternative name(s):
Class E basic helix-loop-helix protein 15
Short name:
bHLHe15
Gene namesi
Name:SIM2
Synonyms:BHLHE15
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 21

Organism-specific databases

HGNCiHGNC:10883. SIM2.

Subcellular locationi

Nucleus 1 PublicationPROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi367 – 3671R → A or G: Reduced nuclear translocation. 1 Publication
Mutagenesisi368 – 3681K → A: No effect on nuclear translocation. 1 Publication
Mutagenesisi369 – 3691L → A: No effect on nuclear translocation. 1 Publication
Mutagenesisi370 – 3701V → A: No effect on nuclear translocation. 1 Publication
Mutagenesisi371 – 3711K → A: No effect on nuclear translocation. 1 Publication
Mutagenesisi372 – 3721P → A: No effect on nuclear translocation. 1 Publication
Mutagenesisi373 – 3731K → A or G: Reduced nuclear translocation. 1 Publication
Mutagenesisi375 – 3751T → A: No effect on nuclear translocation. 1 Publication
Mutagenesisi376 – 3761K → A: No effect on nuclear translocation. 1 Publication
Mutagenesisi377 – 3771M → A: No effect on nuclear translocation. 1 Publication
Mutagenesisi378 – 3781K → G: No effect on nuclear translocation. 1 Publication
Mutagenesisi379 – 3791T → A: No effect on nuclear translocation. 1 Publication
Mutagenesisi380 – 3801K → A: No effect on nuclear translocation. 1 Publication
Mutagenesisi381 – 3811L → A: No effect on nuclear translocation. 1 Publication
Mutagenesisi382 – 3821R → A: No effect on nuclear translocation. 1 Publication
Mutagenesisi383 – 3831T → A: No effect on nuclear translocation. 1 Publication
Mutagenesisi385 – 3851P → A: Reduced nuclear translocation. 1 Publication
Mutagenesisi386 – 3861Y → A: Reduced nuclear translocation. 1 Publication

Organism-specific databases

PharmGKBiPA35783.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 667667Single-minded homolog 2PRO_0000127441Add
BLAST

Proteomic databases

MaxQBiQ14190.
PaxDbiQ14190.
PRIDEiQ14190.

PTM databases

PhosphoSiteiQ14190.

Expressioni

Gene expression databases

BgeeiQ14190.
CleanExiHS_SIM2.
ExpressionAtlasiQ14190. baseline and differential.
GenevestigatoriQ14190.

Organism-specific databases

HPAiHPA029295.

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer of SIM2 and ARNT.

Protein-protein interaction databases

BioGridi112384. 8 interactions.
IntActiQ14190. 26 interactions.
MINTiMINT-7006105.
STRINGi9606.ENSP00000290399.

Structurei

3D structure databases

ProteinModelPortaliQ14190.
SMRiQ14190. Positions 2-333.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 5353bHLHPROSITE-ProRule annotationAdd
BLAST
Domaini77 – 14973PAS 1PROSITE-ProRule annotationAdd
BLAST
Domaini218 – 28871PAS 2PROSITE-ProRule annotationAdd
BLAST
Domaini292 – 33544PACAdd
BLAST
Domaini336 – 667332Single-minded C-terminalPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi367 – 38620Nuclear localization signal1 PublicationAdd
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.
HOVERGENiHBG003936.
InParanoidiQ14190.
KOiK09100.
OMAiSDLLYAP.
OrthoDBiEOG790G0R.
PhylomeDBiQ14190.
TreeFamiTF317772.

Family and domain databases

InterProiIPR011598. bHLH_dom.
IPR001610. PAC.
IPR000014. PAS.
IPR013767. PAS_fold.
IPR013655. PAS_fold_3.
IPR010578. SIM_C.
[Graphical view]
PfamiPF00989. 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]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform SIM2 (identifier: Q14190-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKEKSKNAAK TRREKENGEF YELAKLLPLP SAITSQLDKA SIIRLTTSYL
60 70 80 90 100
KMRAVFPEGL GDAWGQPSRA GPLDGVAKEL GSHLLQTLDG FVFVVASDGK
110 120 130 140 150
IMYISETASV HLGLSQVELT GNSIYEYIHP SDHDEMTAVL TAHQPLHHHL
160 170 180 190 200
LQEYEIERSF FLRMKCVLAK RNAGLTCSGY KVIHCSGYLK IRQYMLDMSL
210 220 230 240 250
YDSCYQIVGL VAVGQSLPPS AITEIKLYSN MFMFRASLDL KLIFLDSRVT
260 270 280 290 300
EVTGYEPQDL IEKTLYHHVH GCDVFHLRYA HHLLLVKGQV TTKYYRLLSK
310 320 330 340 350
RGGWVWVQSY ATVVHNSRSS RPHCIVSVNY VLTEIEYKEL QLSLEQVSTA
360 370 380 390 400
KSQDSWRTAL STSQETRKLV KPKNTKMKTK LRTNPYPPQQ YSSFQMDKLE
410 420 430 440 450
CGQLGNWRAS PPASAAAPPE LQPHSESSDL LYTPSYSLPF SYHYGHFPLD
460 470 480 490 500
SHVFSSKKPM LPAKFGQPQG SPCEVARFFL STLPASGECQ WHYANPLVPS
510 520 530 540 550
SSSPAKNPPE PPANTARHSL VPSYEAPAAA VRRFGEDTAP PSFPSCGHYR
560 570 580 590 600
EEPALGPAKA ARQAARDGAR LALARAAPEC CAPPTPEAPG APAQLPFVLL
610 620 630 640 650
NYHRVLARRG PLGGAAPAAS GLACAPGGPE AATGALRLRH PSPAATSPPG
660
APLPHYLGAS VIITNGR
Length:667
Mass (Da):73,219
Last modified:July 15, 1998 - v2
Checksum:iA100880541A74E6B
GO
Isoform SIM2S (identifier: Q14190-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     526-570: APAAAVRRFG...ARQAARDGAR → GGSGLLVGKV...GQTCPLSASK
     571-667: Missing.

Show »
Length:570
Mass (Da):63,523
Checksum:i8C68F4B8FD2823B0
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti183 – 1842IH → RI in BAA07909. (PubMed:7647800)Curated
Sequence conflicti453 – 4531V → F in AAB62397. (PubMed:9503011)Curated
Sequence conflicti453 – 4531V → F in CAA05055. (PubMed:9503011)Curated
Sequence conflicti526 – 5261A → G in AAB62397. (PubMed:9503011)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti483 – 4831L → M.1 Publication
Corresponds to variant rs2073601 [ dbSNP | Ensembl ].
VAR_024281

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei526 – 57045APAAA…RDGAR → GGSGLLVGKVGGLRTAGSRS SHGGGWQMETEPSRFGQTCP LSASK in isoform SIM2S. 2 PublicationsVSP_002148Add
BLAST
Alternative sequencei571 – 66797Missing in isoform SIM2S. 2 PublicationsVSP_012767Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U80456 mRNA. Translation: AAB62396.1.
U80457 mRNA. Translation: AAB62397.1.
AB003185 Genomic DNA. Translation: BAA21489.1.
AB003185 Genomic DNA. Translation: BAA21490.1.
AP000697 Genomic DNA. Translation: BAA89433.1.
AP001726 Genomic DNA. No translation available.
CH471079 Genomic DNA. Translation: EAX09737.1.
BC110444 mRNA. Translation: AAI10445.1.
D85922 Genomic DNA. Translation: BAA12919.1.
D44444 Genomic DNA. Translation: BAA07906.1.
D44445 Genomic DNA. Translation: BAA07907.1.
D44446 Genomic DNA. Translation: BAA07908.1.
D44447 Genomic DNA. Translation: BAA07909.1.
D44448 Genomic DNA. Translation: BAA07910.1.
AJ001858 mRNA. Translation: CAA05055.1.
X84790 mRNA. Translation: CAA59261.1.
D70838 Genomic DNA. Translation: BAA11108.1.
CCDSiCCDS13646.1. [Q14190-1]
PIRiA58520.
I78525.
I78526.
RefSeqiNP_005060.1. NM_005069.3. [Q14190-1]
NP_033664.2. NM_009586.2. [Q14190-2]
UniGeneiHs.146186.

Genome annotation databases

EnsembliENST00000290399; ENSP00000290399; ENSG00000159263. [Q14190-1]
GeneIDi6493.
KEGGihsa:6493.
UCSCiuc002yvq.3. human. [Q14190-2]
uc002yvr.2. human. [Q14190-1]

Polymorphism databases

DMDMi2851630.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U80456 mRNA. Translation: AAB62396.1 .
U80457 mRNA. Translation: AAB62397.1 .
AB003185 Genomic DNA. Translation: BAA21489.1 .
AB003185 Genomic DNA. Translation: BAA21490.1 .
AP000697 Genomic DNA. Translation: BAA89433.1 .
AP001726 Genomic DNA. No translation available.
CH471079 Genomic DNA. Translation: EAX09737.1 .
BC110444 mRNA. Translation: AAI10445.1 .
D85922 Genomic DNA. Translation: BAA12919.1 .
D44444 Genomic DNA. Translation: BAA07906.1 .
D44445 Genomic DNA. Translation: BAA07907.1 .
D44446 Genomic DNA. Translation: BAA07908.1 .
D44447 Genomic DNA. Translation: BAA07909.1 .
D44448 Genomic DNA. Translation: BAA07910.1 .
AJ001858 mRNA. Translation: CAA05055.1 .
X84790 mRNA. Translation: CAA59261.1 .
D70838 Genomic DNA. Translation: BAA11108.1 .
CCDSi CCDS13646.1. [Q14190-1 ]
PIRi A58520.
I78525.
I78526.
RefSeqi NP_005060.1. NM_005069.3. [Q14190-1 ]
NP_033664.2. NM_009586.2. [Q14190-2 ]
UniGenei Hs.146186.

3D structure databases

ProteinModelPortali Q14190.
SMRi Q14190. Positions 2-333.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112384. 8 interactions.
IntActi Q14190. 26 interactions.
MINTi MINT-7006105.
STRINGi 9606.ENSP00000290399.

PTM databases

PhosphoSitei Q14190.

Polymorphism databases

DMDMi 2851630.

Proteomic databases

MaxQBi Q14190.
PaxDbi Q14190.
PRIDEi Q14190.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000290399 ; ENSP00000290399 ; ENSG00000159263 . [Q14190-1 ]
GeneIDi 6493.
KEGGi hsa:6493.
UCSCi uc002yvq.3. human. [Q14190-2 ]
uc002yvr.2. human. [Q14190-1 ]

Organism-specific databases

CTDi 6493.
GeneCardsi GC21P038071.
HGNCi HGNC:10883. SIM2.
HPAi HPA029295.
MIMi 600892. gene.
neXtProti NX_Q14190.
PharmGKBi PA35783.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG310284.
GeneTreei ENSGT00760000118788.
HOVERGENi HBG003936.
InParanoidi Q14190.
KOi K09100.
OMAi SDLLYAP.
OrthoDBi EOG790G0R.
PhylomeDBi Q14190.
TreeFami TF317772.

Miscellaneous databases

GeneWikii SIM2.
GenomeRNAii 6493.
NextBioi 25235.
PROi Q14190.
SOURCEi Search...

Gene expression databases

Bgeei Q14190.
CleanExi HS_SIM2.
ExpressionAtlasi Q14190. baseline and differential.
Genevestigatori Q14190.

Family and domain databases

InterProi IPR011598. bHLH_dom.
IPR001610. PAC.
IPR000014. PAS.
IPR013767. PAS_fold.
IPR013655. PAS_fold_3.
IPR010578. SIM_C.
[Graphical view ]
Pfami 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 [GENOMIC DNA / MRNA] (ISOFORMS SIM2 AND SIM2S).
  2. "Genomic sequencing of 1.2-Mb region on human chromosome 21q22.2."
    Shibuya K., Kudoh J., Minoshima S., Kawasaki K., Nakatoh E., Shintani A., Asakawa S., Shimizu N.
    Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "The DNA sequence of human chromosome 21."
    Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A.
    , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
    Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SIM2S).
  6. "A 19-kb CpG island associated with single-minded gene 2 in Down syndrome chromosomal region."
    Osoegawa K., Okano S., Kato Y., Nishimura Y., Soeda E.
    DNA Res. 3:175-179(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-247.
  7. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-58; 87-152; 183-247 AND 249-283.
  8. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 64-526, VARIANT MET-483.
    Tissue: Fetal brain and Muscle.
  9. "Down syndrome-critical region contains a gene homologous to Drosophila sim expressed during rat and human central nervous system development."
    Dahmane N., Charron G., Lopes C., Yaspo M.-L., Maunoury C., Decorte L., Sinet P.-M., Bloch B., Delabar J.-M.
    Proc. Natl. Acad. Sci. U.S.A. 92:9191-9195(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 87-116.
  10. "The mammalian single-minded (SIM) gene: mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome."
    Yamaki A., Noda S., Kudoh J., Shindoh N., Maeda H., Minoshima S., Kawasaki K., Shimizu Y., Shimizu N.
    Genomics 35:136-143(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 154-181.
  11. "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, MUTAGENESIS OF NUCLEAR LOCALIZATION SIGNAL.
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiSIM2_HUMAN
AccessioniPrimary (citable) accession number: Q14190
Secondary accession number(s): O60766
, Q15470, Q15471, Q15472, Q15473, Q16532, Q2TBD8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 15, 1998
Last modified: October 29, 2014
This is version 148 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 21
    Human chromosome 21: 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