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UniProtKB - Q15714 (T22D1_HUMAN)

Entry version 178 (11 Dec 2019)
Sequence version 3 (31 May 2011)
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Protein

TSC22 domain family protein 1

Gene

TSC22D1

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

Transcriptional repressor. Acts on the C-type natriuretic peptide (CNP) promoter.

<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

  • transcription by RNA polymerase II Source: ProtInc
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 functionRepressor
Biological processTranscription, Transcription regulation

<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_and_taxonomy_section">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:
TSC22 domain family protein 1
Alternative name(s):
Cerebral protein 2
Regulatory protein TSC-22
TGFB-stimulated clone 22 homolog
Transforming growth factor beta-1-induced transcript 4 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:TSC22D1
Synonyms:KIAA1994, TGFB1I4, TSC22
ORF Names:hucep-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 13

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000102804.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:16826 TSC22D1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607715 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q15714

<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

Cytoplasm, 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

Organism-specific databases

DisGeNET

More...DisGeNETi		8848

Open Targets

More...OpenTargetsi		ENSG00000102804

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134887618

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q15714 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TSC22D1

Domain mapping of disease mutations (DMDM)

More...DMDMi		334302874

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002193651 – 1073TSC22 domain family protein 1Add BLAST1073

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei263PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q15714

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q15714

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q15714

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q15714

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

More...PaxDbi		Q15714

PeptideAtlas

More...PeptideAtlasi		Q15714

PRoteomics IDEntifications database

More...PRIDEi		Q15714

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		3607
60713 [Q15714-1]
60714 [Q15714-2]
60715 [Q15714-3]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q15714-3 [Q15714-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q15714

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

More...PhosphoSitePlusi		Q15714

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed in fetal and adult tissues.

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

In aortic endothelial cells, induced by cytokines, including TGFB1.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000102804 Expressed in 236 organ(s), highest expression level in endothelial cell

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q15714 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q15714 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA077414

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer or heterodimer. Can form a heterodimer with TSC22D4.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		114374, 94 interactors

Protein interaction database and analysis system

More...IntActi		Q15714, 52 interactors

Molecular INTeraction database

More...MINTi		Q15714

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000397435

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q15714 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		Q15714

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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1006 – 1027Leucine-zipperAdd BLAST22

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi59 – 82Pro-richAdd BLAST24
Compositional biasi195 – 241His-richAdd BLAST47
Compositional biasi497 – 817Gln-richAdd BLAST321

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TSC-22/Dip/Bun family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4797 Eukaryota
ENOG411251N LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159144

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q15714

Identification of Orthologs from Complete Genome Data

More...OMAi		EDSGHQQ

Database of Orthologous Groups

More...OrthoDBi		1602203at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q15714

TreeFam database of animal gene trees

More...TreeFami		TF318837

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000580 TSC-22_Dip_Bun

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01166 TSC22, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS01289 TSC22, 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_length">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 (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 4 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q15714-1) [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
MHQPPESTAA AAAAADISAR KMAHPAMFPR RGSGSGSASA LNAAGTGVGS 
        60         70         80         90        100
NATSSEDFPP PSLLQPPPPA ASSTSGPQPP PPQSLNLLSQ AQLQAQPLAP 
       110        120        130        140        150
GGTQMKKKSG FQITSVTPAQ ISASISSNNS IAEDTESYDD LDESHTEDLS 
       160        170        180        190        200
SSEILDVSLS RATDLGEPER SSSEETLNNF QEAETPGAVS PNQPHLPQPH 
       210        220        230        240        250
LPHLPQQNVV INGNAHPHHL HHHHQIHHGH HLQHGHHHPS HVAVASASIT 
       260        270        280        290        300
GGPPSSPVSR KLSTTGSSDS ITPVAPTSAV SSSGSPASVM TNMRAPSTTG 
       310        320        330        340        350
GIGINSVTGT STVNNVNITA VGSFNPNVTS SMLGNVNIST SNIPSAAGVS 
       360        370        380        390        400
VGPGVTSGVN VNILSGMGNG TISSSAAVSS VPNAAAGMTG GSVSSQQQQP 
       410        420        430        440        450
TVNTSRFRVV KLDSSSEPFK KGRWTCTEFY EKENAVPATE GVLINKVVET 
       460        470        480        490        500
VKQNPIEVTS ERESTSGSSV SSSVSTLSHY TESVGSGEMG APTVVVQQQQ 
       510        520        530        540        550
QQQQQQQQQP ALQGVTLQQM DFGSTGPQSI PAVSIPQSIS QSQISQVQLQ 
       560        570        580        590        600
SQELSYQQKQ GLQPVPLQAT MSAATGIQPS PVNVVGVTSA LGQQPSISSL 
       610        620        630        640        650
AQPQLPYSQA APPVQTPLPG APPPQQLQYG QQQPMVSTQM APGHVKSVTQ 
       660        670        680        690        700
NPASEYVQQQ PILQTAMSSG QPSSAGVGAG TTVIPVAQPQ GIQLPVQPTA 
       710        720        730        740        750
VPAQPAGASV QPVGQAPAAV SAVPTGSQIA NIGQQANIPT AVQQPSTQVP 
       760        770        780        790        800
PSVIQQGAPP SSQVVPPAQT GIIHQGVQTS APSLPQQLVI ASQSSLLTVP 
       810        820        830        840        850
PQPQGVEPVA QGIVSQQLPA VSSLPSASSI SVTSQVSSTG PSGMPSAPTN 
       860        870        880        890        900
LVPPQNIAQT PATQNGNLVQ SVSQPPLIAT NTNLPLAQQI PLSSTQFSAQ 
       910        920        930        940        950
SLAQAIGSQI EDARRAAEPS LVGLPQTISG DSGGMSAVSD GSSSSLAASA 
       960        970        980        990       1000
SLFPLKVLPL TTPLVDGEDE SSSGASVVAI DNKIEQAMDL VKSHLMYAVR 
      1010       1020       1030       1040       1050
EEVEVLKEQI KELIEKNSQL EQENNLLKTL ASPEQLAQFQ AQLQTGSPPA 
      1060       1070 
TTQPQGTTQP PAQPASQGSG PTA
Length:1,073
Mass (Da):109,677
Last modified:May 31, 2011 - v3
<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:iBFA471E36FCD06BD
GO
Isoform 2 (identifier: Q15714-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-921: Missing.
     922-970: VGLPQTISGD...TTPLVDGEDE → MKSQWCRPVA...TENASVRLDN

Show »
Length:144
Mass (Da):15,680
Checksum:iB8AEF42657C50892
GO
Isoform 3 (identifier: Q15714-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-488: Missing.

Show »
Length:585
Mass (Da):59,863
Checksum:iB2DDBF5D12954ABE
GO
Isoform 4 (identifier: Q15714-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     557-570: QQKQGLQPVPLQAT → LTMKVVLLIVYLCM
     571-1073: Missing.

Show »
Length:570
Mass (Da):58,859
Checksum:iB6A604F32A6CB638
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X0H8A0A087X0H8_HUMAN
TSC22 domain family protein 1
TSC22D1
86Annotation 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>
C9IZ15C9IZ15_HUMAN
TSC22 domain family protein 1
TSC22D1
142Annotation 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>
H7C4J9H7C4J9_HUMAN
TSC22 domain family protein 1
TSC22D1
149Annotation 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>
C9JYW3C9JYW3_HUMAN
TSC22 domain family protein 1
TSC22D1
41Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAC02703 differs from that shown. Reason: Erroneous initiation.Curated

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 conflicti332M → I in BAC02703 (PubMed:12056414).Curated1
Sequence conflicti581P → L in CAH10539 (PubMed:15489334).Curated1
Sequence conflicti661P → S in CAH10539 (PubMed:15489334).Curated1
Isoform 2 (identifier: Q15714-2)
Sequence conflicti15V → A in BAB46917 (Ref. 4) 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_057311652P → S. Corresponds to variant dbSNP:rs9525983Ensembl.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_0353251 – 921Missing in isoform 2. 7 PublicationsAdd BLAST921
Alternative sequenceiVSP_0353241 – 488Missing in isoform 3. 1 PublicationAdd BLAST488
Alternative sequenceiVSP_044939557 – 570QQKQG…PLQAT → LTMKVVLLIVYLCM in isoform 4. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_044940571 – 1073Missing in isoform 4. 1 PublicationAdd BLAST503
Alternative sequenceiVSP_035326922 – 970VGLPQ…DGEDE → MKSQWCRPVAMDLGVYQLRH FSISFLSSLLGTENASVRLD N in isoform 2. 7 PublicationsAdd BLAST49

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
U35048 mRNA Translation: AAC50566.1
D38585 mRNA Translation: BAA07598.1
AJ222700 mRNA Translation: CAA10951.1
D87061 mRNA Translation: BAB46917.1
AF256226 Genomic DNA Translation: AAG53077.1
AB082525 mRNA Translation: BAC02703.1 Different initiation.
AK091854 mRNA Translation: BAG52429.1
AK312345 mRNA Translation: BAG35266.1
CR456711 mRNA Translation: CAG32992.1
CR627459 mRNA Translation: CAH10539.1
AL138960 Genomic DNA No translation available.
AL139184 Genomic DNA No translation available.
AL356107 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08710.1
BC000456 mRNA Translation: AAH00456.1
BC016867 mRNA Translation: AAH16867.1
BC069207 mRNA Translation: AAH69207.1
BC105277 mRNA Translation: AAI05278.1
BC136475 mRNA Translation: AAI36476.1
BC136482 mRNA Translation: AAI36483.1
BC146664 mRNA Translation: AAI46665.1
BC146679 mRNA Translation: AAI46680.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31966.1 [Q15714-1]
CCDS58291.1 [Q15714-4]
CCDS9392.1 [Q15714-2]

Protein sequence database of the Protein Information Resource

More...PIRi		JC4813

NCBI Reference Sequences

More...RefSeqi		NP_001230728.1, NM_001243799.1 [Q15714-4]
NP_006013.1, NM_006022.3 [Q15714-2]
NP_904358.2, NM_183422.3 [Q15714-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000261489; ENSP00000261489; ENSG00000102804 [Q15714-2]
ENST00000458659; ENSP00000397435; ENSG00000102804 [Q15714-1]
ENST00000501704; ENSP00000437414; ENSG00000102804 [Q15714-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8848

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8848

UCSC genome browser

More...UCSCi		uc001uzm.5 human [Q15714-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
U35048 mRNA Translation: AAC50566.1
D38585 mRNA Translation: BAA07598.1
AJ222700 mRNA Translation: CAA10951.1
D87061 mRNA Translation: BAB46917.1
AF256226 Genomic DNA Translation: AAG53077.1
AB082525 mRNA Translation: BAC02703.1 Different initiation.
AK091854 mRNA Translation: BAG52429.1
AK312345 mRNA Translation: BAG35266.1
CR456711 mRNA Translation: CAG32992.1
CR627459 mRNA Translation: CAH10539.1
AL138960 Genomic DNA No translation available.
AL139184 Genomic DNA No translation available.
AL356107 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08710.1
BC000456 mRNA Translation: AAH00456.1
BC016867 mRNA Translation: AAH16867.1
BC069207 mRNA Translation: AAH69207.1
BC105277 mRNA Translation: AAI05278.1
BC136475 mRNA Translation: AAI36476.1
BC136482 mRNA Translation: AAI36483.1
BC146664 mRNA Translation: AAI46665.1
BC146679 mRNA Translation: AAI46680.1
CCDSiCCDS31966.1 [Q15714-1]
CCDS58291.1 [Q15714-4]
CCDS9392.1 [Q15714-2]
PIRiJC4813
RefSeqiNP_001230728.1, NM_001243799.1 [Q15714-4]
NP_006013.1, NM_006022.3 [Q15714-2]
NP_904358.2, NM_183422.3 [Q15714-1]

3D structure databases

SMRiQ15714
ModBaseiSearch...

Protein-protein interaction databases

BioGridi114374, 94 interactors
IntActiQ15714, 52 interactors
MINTiQ15714
STRINGi9606.ENSP00000397435

PTM databases

iPTMnetiQ15714
PhosphoSitePlusiQ15714

Polymorphism and mutation databases

BioMutaiTSC22D1
DMDMi334302874

Proteomic databases

EPDiQ15714
jPOSTiQ15714
MassIVEiQ15714
MaxQBiQ15714
PaxDbiQ15714
PeptideAtlasiQ15714
PRIDEiQ15714
ProteomicsDBi3607
60713 [Q15714-1]
60714 [Q15714-2]
60715 [Q15714-3]
TopDownProteomicsiQ15714-3 [Q15714-3]

Genome annotation databases

EnsembliENST00000261489; ENSP00000261489; ENSG00000102804 [Q15714-2]
ENST00000458659; ENSP00000397435; ENSG00000102804 [Q15714-1]
ENST00000501704; ENSP00000437414; ENSG00000102804 [Q15714-4]
GeneIDi8848
KEGGihsa:8848
UCSCiuc001uzm.5 human [Q15714-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8848
DisGeNETi8848
EuPathDBiHostDB:ENSG00000102804.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		TSC22D1
HGNCiHGNC:16826 TSC22D1
HPAiHPA077414
MIMi607715 gene
neXtProtiNX_Q15714
OpenTargetsiENSG00000102804
PharmGKBiPA134887618

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4797 Eukaryota
ENOG411251N LUCA
GeneTreeiENSGT00940000159144
InParanoidiQ15714
OMAiEDSGHQQ
OrthoDBi1602203at2759
PhylomeDBiQ15714
TreeFamiTF318837

Miscellaneous databases

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

More...ChiTaRSi		TSC22D1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		TSC22D1

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

More...GenomeRNAii		8848
PharosiQ15714 Tbio

Protein Ontology

More...PROi		PR:Q15714
RNActiQ15714 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000102804 Expressed in 236 organ(s), highest expression level in endothelial cell
ExpressionAtlasiQ15714 baseline and differential
GenevisibleiQ15714 HS

Family and domain databases

InterProiView protein in InterPro
IPR000580 TSC-22_Dip_Bun
PfamiView protein in Pfam
PF01166 TSC22, 1 hit
PROSITEiView protein in PROSITE
PS01289 TSC22, 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 nameiT22D1_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: Q15714
Secondary accession number(s): B3KRL7
, B9EGI0, O00666, Q6AHX5, Q6IBU1, Q8NCN1, Q96JS5
<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_and_isoforms">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: May 31, 2011
Last modified: December 11, 2019
This is version 178 of the entry and version 3 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
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