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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

GO - Biological processi

  • transcription by RNA polymerase II Source: ProtInc

<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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

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EuPathDBi
HostDB:ENSG00000102804.14

Human Gene Nomenclature Database

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HGNCi
HGNC:16826 TSC22D1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607715 gene

neXtProt; the human protein knowledge platform

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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; 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

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DisGeNETi
8848

Open Targets

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OpenTargetsi
ENSG00000102804

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134887618

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
TSC22D1

Domain mapping of disease mutations (DMDM)

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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

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EPDi
Q15714

MaxQB - The MaxQuant DataBase

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MaxQBi
Q15714

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

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PaxDbi
Q15714

PeptideAtlas

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PeptideAtlasi
Q15714

PRoteomics IDEntifications database

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PRIDEi
Q15714

ProteomicsDB human proteome resource

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ProteomicsDBi
60713
60714 [Q15714-2]
60715 [Q15714-3]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q15714-3 [Q15714-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q15714

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

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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

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

CleanEx database of gene expression profiles

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CleanExi
HS_TSC22D1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q15714 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q15714 HS

Organism-specific databases

Human Protein Atlas

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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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114374, 93 interactors

Protein interaction database and analysis system

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IntActi
Q15714, 49 interactors

Molecular INTeraction database

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MINTi
Q15714

STRING: functional protein association networks

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STRINGi
9606.ENSP00000397435

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q15714

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

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SMRi
Q15714

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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

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eggNOGi
KOG4797 Eukaryota
ENOG411251N LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159144

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG108540

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q15714

Identification of Orthologs from Complete Genome Data

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OMAi
MTNIRAP

Database of Orthologous Groups

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OrthoDBi
EOG091G06PM

Database for complete collections of gene phylogenies

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PhylomeDBi
Q15714

TreeFam database of animal gene trees

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TreeFami
TF318837

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000580 TSC-22_Dip_Bun

The PANTHER Classification System

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PANTHERi
PTHR12348 PTHR12348, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01166 TSC22, 1 hit

ProDom; a protein domain database

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ProDomi
View protein in ProDom or Entries sharing at least one domain
PD007152 TSC-22_Dip_Bun, 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>.<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 '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
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.

Note: No experimental confirmation available.
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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<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

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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

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PIRi
JC4813

NCBI Reference Sequences

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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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.436383

Genome annotation databases

Ensembl eukaryotic genome annotation project

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

Database of genes from NCBI RefSeq genomes

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GeneIDi
8848

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8848

UCSC genome browser

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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]
UniGeneiHs.436383

3D structure databases

ProteinModelPortaliQ15714
SMRiQ15714
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114374, 93 interactors
IntActiQ15714, 49 interactors
MINTiQ15714
STRINGi9606.ENSP00000397435

PTM databases

iPTMnetiQ15714
PhosphoSitePlusiQ15714

Polymorphism and mutation databases

BioMutaiTSC22D1
DMDMi334302874

Proteomic databases

EPDiQ15714
MaxQBiQ15714
PaxDbiQ15714
PeptideAtlasiQ15714
PRIDEiQ15714
ProteomicsDBi60713
60714 [Q15714-2]
60715 [Q15714-3]
TopDownProteomicsiQ15714-3 [Q15714-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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

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CTDi
8848
DisGeNETi8848
EuPathDBiHostDB:ENSG00000102804.14

GeneCards: human genes, protein and diseases

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GeneCardsi
TSC22D1

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0037340
HGNCiHGNC:16826 TSC22D1
HPAiHPA077414
MIMi607715 gene
neXtProtiNX_Q15714
OpenTargetsiENSG00000102804
PharmGKBiPA134887618

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4797 Eukaryota
ENOG411251N LUCA
GeneTreeiENSGT00940000159144
HOVERGENiHBG108540
InParanoidiQ15714
OMAiMTNIRAP
OrthoDBiEOG091G06PM
PhylomeDBiQ15714
TreeFamiTF318837

Miscellaneous databases

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

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ChiTaRSi
TSC22D1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TSC22D1

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

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GenomeRNAii
8848

Protein Ontology

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PROi
PR:Q15714

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000102804 Expressed in 236 organ(s), highest expression level in endothelial cell
CleanExiHS_TSC22D1
ExpressionAtlasiQ15714 baseline and differential
GenevisibleiQ15714 HS

Family and domain databases

InterProiView protein in InterPro
IPR000580 TSC-22_Dip_Bun
PANTHERiPTHR12348 PTHR12348, 1 hit
PfamiView protein in Pfam
PF01166 TSC22, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD007152 TSC-22_Dip_Bun, 1 hit
PROSITEiView protein in PROSITE
PS01289 TSC22, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 5, 2018
This is version 170 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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