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Reviewed, UniProtKB/Swiss-Prot Q15714 (T22D1_HUMAN)

Last modified June 16, 2009. Version 79. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    TSC22 domain family protein 1
Alternative name(s):
    Transforming growth factor beta-1-induced transcript 4 protein
    Regulatory protein TSC-22
    TGFB-stimulated clone 22 homolog
    Cerebral protein 2
Gene names
Name: TSC22D1
Synonyms: KIAA1994, TGFB1I4, TSC22
ORF Names: hucep-2
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1073 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

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

Subunit structure

Homodimer or heterodimer. Can form an heterodimer with TSC22D4.

Subcellular location

Cytoplasm By similarity. Nucleus By similarity.

Tissue specificity

Widely expressed in fetal and adult tissues.

Induction

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

Sequence similarities

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

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   Molecular functionRepressor
Gene Ontology (GO)
   Biological processregulation of transcription, DNA-dependent

Inferred from electronic annotation. Source: UniProtKB-KW

transcription from RNA polymerase II promoter Ref.2

Traceable author statement. Source: ProtInc

   Cellular componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functionprotein binding

Inferred from physical interaction. Source: IntAct

transcription factor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q15714-1)

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.
Isoform 2 (identifier: Q15714-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier
Sequence conflict151V → A in BAB46917. Ref.4
Isoform 3 (identifier: Q15714-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10731073TSC22 domain family protein 1
PRO_0000219365

Regions

Domain1006 – 102722Leucine-zipper
Compositional bias59 – 8224Pro-rich
Compositional bias195 – 24147His-rich
Compositional bias497 – 817321Gln-rich

Natural variations

Alternative sequence1 – 921921Missing in isoform 2.
VSP_035325
Alternative sequence1 – 488488Missing in isoform 3.
VSP_035324
Alternative sequence922 – 97049VGLPQ…DGEDE → MKSQWCRPVAMDLGVYQLRH FSISFLSSLLGTENASVRLD N in isoform 2.
VSP_035326
Natural variant6521P → S: dbSNP rs9525983.
VAR_057311

Experimental info

Sequence conflict5811P → L in CAH10539. Ref.12
Sequence conflict6611P → S in CAH10539. Ref.12

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 2, 2008. Version 2.
Checksum: F04E62D88073B277

FASTA1,073109,659
        10         20         30         40         50         60 
MHQPPESTAA AAAAADISAR KMAHPAMFPR RGSGSGSASA LNAAGTGVGS NATSSEDFPP 

        70         80         90        100        110        120 
PSLLQPPPPA ASSTSGPQPP PPQSLNLLSQ AQLQAQPLAP GGTQMKKKSG FQITSVTPAQ 

       130        140        150        160        170        180 
ISASISSNNS IAEDTESYDD LDESHTEDLS SSEILDVSLS RATDLGEPER SSSEETLNNF 

       190        200        210        220        230        240 
QEAETPGAVS PNQPHLPQPH LPHLPQQNVV INGNAHPHHL HHHHQIHHGH HLQHGHHHPS 

       250        260        270        280        290        300 
HVAVASASIT GGPPSSPVSR KLSTTGSSDS ITPVAPTSAV SSSGSPASVM TNMRAPSTTG 

       310        320        330        340        350        360 
GIGINSVTGT STVNNVNITA VGSFNPNVTS SILGNVNIST SNIPSAAGVS VGPGVTSGVN 

       370        380        390        400        410        420 
VNILSGMGNG TISSSAAVSS VPNAAAGMTG GSVSSQQQQP TVNTSRFRVV KLDSSSEPFK 

       430        440        450        460        470        480 
KGRWTCTEFY EKENAVPATE GVLINKVVET VKQNPIEVTS ERESTSGSSV SSSVSTLSHY 

       490        500        510        520        530        540 
TESVGSGEMG APTVVVQQQQ QQQQQQQQQP ALQGVTLQQM DFGSTGPQSI PAVSIPQSIS 

       550        560        570        580        590        600 
QSQISQVQLQ SQELSYQQKQ GLQPVPLQAT MSAATGIQPS PVNVVGVTSA LGQQPSISSL 

       610        620        630        640        650        660 
AQPQLPYSQA APPVQTPLPG APPPQQLQYG QQQPMVSTQM APGHVKSVTQ NPASEYVQQQ 

       670        680        690        700        710        720 
PILQTAMSSG QPSSAGVGAG TTVIPVAQPQ GIQLPVQPTA VPAQPAGASV QPVGQAPAAV 

       730        740        750        760        770        780 
SAVPTGSQIA NIGQQANIPT AVQQPSTQVP PSVIQQGAPP SSQVVPPAQT GIIHQGVQTS 

       790        800        810        820        830        840 
APSLPQQLVI ASQSSLLTVP PQPQGVEPVA QGIVSQQLPA VSSLPSASSI SVTSQVSSTG 

       850        860        870        880        890        900 
PSGMPSAPTN LVPPQNIAQT PATQNGNLVQ SVSQPPLIAT NTNLPLAQQI PLSSTQFSAQ 

       910        920        930        940        950        960 
SLAQAIGSQI EDARRAAEPS LVGLPQTISG DSGGMSAVSD GSSSSLAASA SLFPLKVLPL 

       970        980        990       1000       1010       1020 
TTPLVDGEDE SSSGASVVAI DNKIEQAMDL VKSHLMYAVR EEVEVLKEQI KELIEKNSQL 

      1030       1040       1050       1060       1070 
EQENNLLKTL ASPEQLAQFQ AQLQTGSPPA TTQPQGTTQP PAQPASQGSG PTA 

« Hide

Isoform 2.

Checksum: B8AEF42657C50892
Show »

FASTA14415,680
Isoform 3.

Checksum: B2DDBF5D12954ABE
Show »

FASTA58559,863

References

« Hide 'large scale' references
[1]"Cloning of the human homologue of the TGF beta-stimulated clone 22 gene."
Jay P., Wei J.W., Marsollier C., Taviaux S., Berge-Lefranc J.-L., Berta P.
Biochem. Biophys. Res. Commun. 222:821-826(1996) [PubMed: 8651929] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[2]"Molecular cloning and characterization of a transcription factor for the C-type natriuretic peptide gene promoter."
Ohta S., Shimekake Y., Nagata K.
Eur. J. Biochem. 242:460-466(1996) [PubMed: 9022669] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Kidney.
[3]"The characteristics of different types of mRNA expressed in the human brain."
Dmitrenko V.V., Garifulin O.M., Shostak E.A., Smikodub A.I., Kavsan V.M.
Cyt. Genet. 30:41-47(1996) [PubMed: 9026990] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Brain.
[4]"Hucep-2, a gene which is expressed in the human brain, is a homologue of rodent and chicken TSC-22."
Yazaki M., Takayama K., Matsumoto K., Yoshimoto M.
Submitted (AUG-1996) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Brain cortex.
[5]"Cloning and characterization of human TSC-22 genomic DNA."
Kawamata H., Uchida D., Omotehara F., Hino S., Nakashiro K., Miwa Y., Begum N., Hoque M.O., Yoshida H., Sato M.
Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[6]"Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method."
Ohara O., Nagase T., Mitsui G., Kohga H., Kikuno R., Hiraoka S., Takahashi Y., Kitajima S., Saga Y., Koseki H.
DNA Res. 9:47-57(2002) [PubMed: 12056414] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[7]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Brain cortex.
[8]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[9]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Fetal brain.
[10]"The DNA sequence and analysis of human chromosome 13."
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
Nature 428:522-528(2004) [PubMed: 15057823] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[11]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[12]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Colon, Lung and Ovary.
[13]"Transforming growth factor-beta-stimulated clone-22 is a member of a family of leucine zipper proteins that can homo- and heterodimerize and has transcriptional repressor activity."
Kester H.A., Blanchetot C., den Hertog J., van der Saag P.T., van der Burg B.
J. Biol. Chem. 274:27439-27447(1999) [PubMed: 10488076] [Abstract]
Cited for: CHARACTERIZATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

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.
AK312345 mRNA. Translation: BAG35266.1.
CR456711 mRNA. Translation: CAG32992.1.
CR627459 mRNA. Translation: CAH10539.1.
AL138960, AL139184 Genomic DNA. Translation: CAI12991.1.
AL139184, AL138960 Genomic DNA. Translation: CAI16499.1.
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.
BC146664 mRNA. Translation: AAI46665.1.
BC146679 mRNA. Translation: AAI46680.1.
IPIIPI00019355.
IPI00301610.
IPI00903210.
PIRJC4813.
RefSeqNP_006013.1.
NP_904358.2.
UniGeneHs.507916

3D structure databases

HSSPHSSP built from PDB template 1DIP based on UniProtKB P80220.
SMRQ15714. Positions 59-114.
ModBaseSearch...

Protein-protein interaction databases

IntActQ15714. 115 interactions.

PTM databases

PhosphoSiteQ15714.

Genome annotation databases

EnsemblENSG00000102804. Homo sapiens. [Contig view]
GeneID8848.
KEGGhsa:8848.

Organism-specific databases

GeneCardsGC13M043906.
H-InvDBHIX0011281.
HGNCHGNC:16826. TSC22D1.
MIM607715. gene.
PharmGKBPA134887618.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

HOVERGENQ15714.
OMAQ15714. CYSVAMD.

Gene expression databases

ArrayExpressQ15714.
BgeeQ15714.
CleanExHS_TSC22D1.
GermOnlineENSG00000102804. Homo sapiens.

Family and domain databases

InterProIPR000580. TSC-22_Dip_Bun.
[Graphical view]
PANTHERPTHR12348. TSC-22_Dip_Bun. 1 hit.
PfamPF01166. TSC22. 1 hit.
[Graphical view]
ProDomPD007152. TSC-22_Dip_Bun. 1 hit.
[Graphical view] [Entries sharing at least one domain]
PROSITEPS01289. TSC22. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio33215.
SOURCESearch...

Entry information

Entry nameT22D1_HUMAN
AccessionPrimary (citable) accession number: Q15714
Secondary accession number(s): O00666 expand/collapse secondary AC list , Q6AHX5, Q6IBU1, Q8NCN1, Q96JS5
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: September 2, 2008
Last modified: June 16, 2009
This is version 79 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents