Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q14190 (SIM2_HUMAN)

Entry version 201 (10 Feb 2021)
Sequence version 2 (15 Jul 1998)
Previous versions | rss
Add a publicationFeedback
Protein

Single-minded homolog 2

Gene

SIM2

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q14190

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q14190

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Single-minded homolog 2
Alternative name(s):
Class E basic helix-loop-helix protein 15
Short name:
bHLHe15
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SIM2
Synonyms:BHLHE15
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 21

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:10883, SIM2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600892, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q14190

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000159263.15

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi367R → A or G: Reduced nuclear translocation. 1 Publication1
Mutagenesisi368K → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi369L → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi370V → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi371K → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi372P → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi373K → A or G: Reduced nuclear translocation. 1 Publication1
Mutagenesisi375T → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi376K → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi377M → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi378K → G: No effect on nuclear translocation. 1 Publication1
Mutagenesisi379T → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi380K → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi381L → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi382R → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi383T → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi385P → A: Reduced nuclear translocation. 1 Publication1
Mutagenesisi386Y → A: Reduced nuclear translocation. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		6493

Open Targets

More...OpenTargetsi		ENSG00000159263

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35783

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q14190, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SIM2

Domain mapping of disease mutations (DMDM)

More...DMDMi		2851630

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001274411 – 667Single-minded homolog 2Add BLAST667

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q14190

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q14190

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q14190

PeptideAtlas

More...PeptideAtlasi		Q14190

PRoteomics IDEntifications database

More...PRIDEi		Q14190

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		59911 [Q14190-1]
59912 [Q14190-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q14190

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q14190

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000159263, Expressed in cortex of kidney and 139 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q14190, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q14190, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000159263, Tissue enhanced (esophagus, kidney, lymphoid tissue, skeletal muscle)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112384, 12 interactors

Protein interaction database and analysis system

More...IntActi		Q14190, 30 interactors

Molecular INTeraction database

More...MINTi		Q14190

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000290399

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q14190, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q14190

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1 – 53bHLHPROSITE-ProRule annotationAdd BLAST53
Domaini77 – 149PAS 1PROSITE-ProRule annotationAdd BLAST73
Domaini218 – 288PAS 2PROSITE-ProRule annotationAdd BLAST71
Domaini292 – 335PACAdd BLAST44
Domaini336 – 667Single-minded C-terminalPROSITE-ProRule annotationAdd BLAST332

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi367 – 386Nuclear localization signal1 PublicationAdd BLAST20

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3559, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159985

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_010044_4_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q14190

Identification of Orthologs from Complete Genome Data

More...OMAi		SECQWHY

Database of Orthologous Groups

More...OrthoDBi		231698at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q14190

TreeFam database of animal gene trees

More...TreeFami		TF317772

Family and domain databases

Conserved Domains Database

More...CDDi		cd00083, HLH, 1 hit
cd00130, PAS, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		4.10.280.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View 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

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00989, PAS, 1 hit
PF08447, PAS_3, 1 hit
PF06621, SIM_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00353, HLH, 1 hit
SM00086, PAC, 1 hit
SM00091, PAS, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47459, SSF47459, 1 hit
SSF55785, SSF55785, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50888, BHLH, 1 hit
PS50112, PAS, 2 hits
PS51302, SIM_C, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BZX8H7BZX8_HUMAN
Single-minded homolog 2
SIM2
480Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
V9GY04V9GY04_HUMAN
Single-minded homolog 2
SIM2
73Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti183 – 184IH → RI in BAA07909 (PubMed:7647800).Curated2
Sequence conflicti453V → F in AAB62397 (PubMed:9503011).Curated1
Sequence conflicti453V → F in CAA05055 (PubMed:9503011).Curated1
Sequence conflicti526A → G in AAB62397 (PubMed:9503011).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_024281483L → M1 PublicationCorresponds to variant dbSNP:rs2073601Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_002148526 – 570APAAA…RDGAR → GGSGLLVGKVGGLRTAGSRS SHGGGWQMETEPSRFGQTCP LSASK in isoform SIM2S. 2 PublicationsAdd BLAST45
Alternative sequenceiVSP_012767571 – 667Missing in isoform SIM2S. 2 PublicationsAdd BLAST97

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13646.1 [Q14190-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A58520
I78525
I78526

NCBI Reference Sequences

More...RefSeqi		NP_005060.1, NM_005069.5 [Q14190-1]
NP_033664.2, NM_009586.4 [Q14190-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000290399; ENSP00000290399; ENSG00000159263 [Q14190-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6493

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6493

UCSC genome browser

More...UCSCi		uc002yvr.3, human [Q14190-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005069.5 [Q14190-1]
NP_033664.2, NM_009586.4 [Q14190-2]

3D structure databases

SMRiQ14190
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi112384, 12 interactors
IntActiQ14190, 30 interactors
MINTiQ14190
STRINGi9606.ENSP00000290399

PTM databases

iPTMnetiQ14190
PhosphoSitePlusiQ14190

Genetic variation databases

BioMutaiSIM2
DMDMi2851630

Proteomic databases

MassIVEiQ14190
MaxQBiQ14190
PaxDbiQ14190
PeptideAtlasiQ14190
PRIDEiQ14190
ProteomicsDBi59911 [Q14190-1]
59912 [Q14190-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		23108, 164 antibodies

Genome annotation databases

EnsembliENST00000290399; ENSP00000290399; ENSG00000159263 [Q14190-1]
GeneIDi6493
KEGGihsa:6493
UCSCiuc002yvr.3, human [Q14190-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6493
DisGeNETi6493

GeneCards: human genes, protein and diseases

More...GeneCardsi		SIM2
HGNCiHGNC:10883, SIM2
HPAiENSG00000159263, Tissue enhanced (esophagus, kidney, lymphoid tissue, skeletal muscle)
MIMi600892, gene
neXtProtiNX_Q14190
OpenTargetsiENSG00000159263
PharmGKBiPA35783
VEuPathDBiHostDB:ENSG00000159263.15

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3559, Eukaryota
GeneTreeiENSGT00940000159985
HOGENOMiCLU_010044_4_1_1
InParanoidiQ14190
OMAiSECQWHY
OrthoDBi231698at2759
PhylomeDBiQ14190
TreeFamiTF317772

Enzyme and pathway databases

PathwayCommonsiQ14190
SIGNORiQ14190

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6493, 5 hits in 877 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SIM2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SIM2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		6493
PharosiQ14190, Tbio

Protein Ontology

More...PROi		PR:Q14190
RNActiQ14190, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000159263, Expressed in cortex of kidney and 139 other tissues
ExpressionAtlasiQ14190, baseline and differential
GenevisibleiQ14190, 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
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSIM2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q14190
Secondary accession number(s): O60766
, Q15470, Q15471, Q15472, Q15473, Q16532, Q2TBD8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 15, 1998
Last modified: February 10, 2021
This is version 201 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again