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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

GO - Biological processi

  • transcription by RNA polymerase II Source: ProtInc

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
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
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

Show more details

Protein-protein interaction databases

BioGridi114374, 93 interactors
IntActiQ15714, 145 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
OMAiRKMAHPA
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

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

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

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: July 18, 2018
This is version 167 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. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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