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UniProtKB - Q15714 (T22D1_HUMAN)

Protein

TSC22 domain family protein 1

Gene

TSC22D1

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

Functioni

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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • transcription by RNA polymerase II Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionRepressor
Biological processTranscription, Transcription regulation

Names & Taxonomyi

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
Gene namesi
Name:TSC22D1
Synonyms:KIAA1994, TGFB1I4, TSC22
ORF Names:hucep-2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000102804.14
HGNCiHGNC:16826 TSC22D1
MIMi607715 gene
neXtProtiNX_Q15714

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi8848
OpenTargetsiENSG00000102804
PharmGKBiPA134887618

Polymorphism and mutation databases

BioMutaiTSC22D1
DMDMi334302874

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002193651 – 1073TSC22 domain family protein 1Add BLAST1073

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei263PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

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

PTM databases

iPTMnetiQ15714
PhosphoSitePlusiQ15714

Expressioni

Tissue specificityi

Widely expressed in fetal and adult tissues.

Inductioni

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

Gene expression databases

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

Organism-specific databases

HPAiHPA077414

Interactioni

Subunit structurei

Homodimer or heterodimer. Can form a heterodimer with TSC22D4.

Binary interactionsi

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ15714
SMRiQ15714
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1006 – 1027Leucine-zipperAdd BLAST22

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi59 – 82Pro-richAdd BLAST24
Compositional biasi195 – 241His-richAdd BLAST47
Compositional biasi497 – 817Gln-richAdd BLAST321

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG4797 Eukaryota
ENOG411251N LUCA
GeneTreeiENSGT00530000063062
HOVERGENiHBG108540
InParanoidiQ15714
OMAiMTNIRAP
OrthoDBiEOG091G06PM
PhylomeDBiQ15714
TreeFamiTF318837

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

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 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
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

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:
C9IZ15C9IZ15_HUMAN
TSC22 domain family protein 1
TSC22D1
142Annotation score:
H7C4J9H7C4J9_HUMAN
TSC22 domain family protein 1
TSC22D1
149Annotation score:
C9JYW3C9JYW3_HUMAN
TSC22 domain family protein 1
TSC22D1
41Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Natural variantiVAR_057311652P → S. Corresponds to variant dbSNP:rs9525983Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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

CTDi8848
DisGeNETi8848
EuPathDBiHostDB:ENSG00000102804.14
GeneCardsiTSC22D1
H-InvDBiHIX0037340
HGNCiHGNC:16826 TSC22D1
HPAiHPA077414
MIMi607715 gene
neXtProtiNX_Q15714
OpenTargetsiENSG00000102804
PharmGKBiPA134887618
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4797 Eukaryota
ENOG411251N LUCA
GeneTreeiENSGT00530000063062
HOVERGENiHBG108540
InParanoidiQ15714
OMAiMTNIRAP
OrthoDBiEOG091G06PM
PhylomeDBiQ15714
TreeFamiTF318837

Miscellaneous databases

ChiTaRSiTSC22D1 human
GeneWikiiTSC22D1
GenomeRNAii8848
PROiPR:Q15714
SOURCEiSearch...

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
ProtoNetiSearch...

Entry informationi

Entry nameiT22D1_HUMAN
AccessioniPrimary (citable) accession number: Q15714
Secondary accession number(s): B3KRL7
, B9EGI0, O00666, Q6AHX5, Q6IBU1, Q8NCN1, Q96JS5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 31, 2011
Last modified: November 7, 2018
This is version 169 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. 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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