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Teashirt homolog 1 (Antigen NY-CO-33) (Serologically defined colon cancer antigen 33)

 TSH1_HUMAN              Reviewed;        1077 AA.
Q6ZSZ6; O60534; Q4LE29; Q53EU4;
10-JAN-2006, integrated into UniProtKB/Swiss-Prot.
10-JAN-2006, sequence version 2.
20-JUN-2018, entry version 135.
RecName: Full=Teashirt homolog 1;
AltName: Full=Antigen NY-CO-33;
AltName: Full=Serologically defined colon cancer antigen 33;
Name=TSHZ1; Synonyms=SDCCAG33, TSH1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Brain;
PubMed=14702039; DOI=10.1038/ng1285;
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.,
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Brain;
Nakajima D., Saito K., Yamakawa H., Kikuno R.F., Nakayama M.,
Ohara R., Okazaki N., Koga H., Nagase T., Ohara O.;
"Preparation of a set of expression-ready clones of mammalian long
cDNAs encoding large proteins by the ORF trap cloning method.";
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16177791; DOI=10.1038/nature03983;
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D.,
Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K.,
FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S.,
Bloom T., Bugalter B., Butler J., Cook A., DeCaprio D., Engels R.,
Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T.,
Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E.,
Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H.,
O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
"DNA sequence and analysis of human chromosome 18.";
Nature 437:551-555(2005).
[4]
NUCLEOTIDE SEQUENCE [MRNA] OF 273-1077 (ISOFORMS 1/2).
TISSUE=Colon carcinoma;
PubMed=9610721;
DOI=10.1002/(SICI)1097-0215(19980529)76:5<652::AID-IJC7>3.0.CO;2-P;
Scanlan M.J., Chen Y.-T., Williamson B., Gure A.O., Stockert E.,
Gordan J.D., Tuereci O., Sahin U., Pfreundschuh M., Old L.J.;
"Characterization of human colon cancer antigens recognized by
autologous antibodies.";
Int. J. Cancer 76:652-658(1998).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 320-1077 (ISOFORMS 1/2).
TISSUE=Kidney;
Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.;
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
[6]
TISSUE SPECIFICITY.
PubMed=19343227; DOI=10.1371/journal.pone.0005071;
Kajiwara Y., Akram A., Katsel P., Haroutunian V., Schmeidler J.,
Beecham G., Haines J.L., Pericak-Vance M.A., Buxbaum J.D.;
"FE65 binds Teashirt, inhibiting expression of the primate-specific
caspase-4.";
PLoS ONE 4:E5071-E5071(2009).
[7]
INVOLVEMENT IN CAA.
PubMed=22152683; DOI=10.1016/j.ajhg.2011.11.008;
Feenstra I., Vissers L.E., Pennings R.J., Nillessen W., Pfundt R.,
Kunst H.P., Admiraal R.J., Veltman J.A., van Ravenswaaij-Arts C.M.,
Brunner H.G., Cremers C.W.;
"Disruption of teashirt zinc finger homeobox 1 is associated with
congenital aural atresia in humans.";
Am. J. Hum. Genet. 89:813-819(2011).
[8]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-765, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Erythroleukemia;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
-!- FUNCTION: Probable transcriptional regulator involved in
developmental processes. May act as a transcriptional repressor
(Potential). {ECO:0000305}.
-!- SUBUNIT: Interacts (via homeobox domain) with APBB1 (via PID
domain 1). {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q6ZSZ6-1; Sequence=Displayed;
Name=2;
IsoId=Q6ZSZ6-2; Sequence=VSP_040877;
-!- TISSUE SPECIFICITY: Expressed in brain; strongly reduced in post-
mortem elderly subjects with Alzheimer disease.
{ECO:0000269|PubMed:19343227}.
-!- DISEASE: Aural atresia, congenital (CAA) [MIM:607842]: A rare
anomaly of the ear that involves some degree of failure of the
development of the external auditory canal. The malformation can
also involve the tympanic membrane, ossicles and middle ear space.
The inner ear development is most often normal. Different CAA
forms are known. CAA type I is characterized by bony or fibrous
atresia of the lateral part of the external auditory canal and an
almost normal medial part and middle ear. CAA type II is the most
frequent type and is characterized by partial or total aplasia of
the external auditory canal. CAA type IIA involves an external
auditory canal with either complete bony atresia of the medial
part or partial aplasia that ends blindly in a fistula leading to
a rudimentary tympanic membrane. CAA type IIB is characterized by
bony stenosis of the total length of the external auditory canal.
CAA type III involves bony atresia of the external auditory canal
and a very small or absent middle-ear cavity.
{ECO:0000269|PubMed:22152683}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the teashirt C2H2-type zinc-finger protein
family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAC18047.1; Type=Frameshift; Positions=304, 1048; Evidence={ECO:0000305};
Sequence=BAE06124.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; AK127042; BAC86800.1; -; mRNA.
EMBL; AB210042; BAE06124.1; ALT_INIT; mRNA.
EMBL; AC025105; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AF039698; AAC18047.1; ALT_FRAME; mRNA.
EMBL; AK223545; BAD97265.1; -; mRNA.
CCDS; CCDS12009.1; -. [Q6ZSZ6-2]
CCDS; CCDS77199.1; -. [Q6ZSZ6-1]
RefSeq; NP_001295139.1; NM_001308210.1. [Q6ZSZ6-1]
RefSeq; NP_005777.3; NM_005786.5. [Q6ZSZ6-2]
RefSeq; XP_005266698.1; XM_005266641.3. [Q6ZSZ6-2]
UniGene; Hs.284217; -.
ProteinModelPortal; Q6ZSZ6; -.
SMR; Q6ZSZ6; -.
BioGrid; 115489; 2.
IntAct; Q6ZSZ6; 1.
MINT; Q6ZSZ6; -.
STRING; 9606.ENSP00000323584; -.
iPTMnet; Q6ZSZ6; -.
PhosphoSitePlus; Q6ZSZ6; -.
BioMuta; TSHZ1; -.
DMDM; 85683261; -.
EPD; Q6ZSZ6; -.
MaxQB; Q6ZSZ6; -.
PaxDb; Q6ZSZ6; -.
PeptideAtlas; Q6ZSZ6; -.
PRIDE; Q6ZSZ6; -.
ProteomicsDB; 68249; -.
ProteomicsDB; 68250; -. [Q6ZSZ6-2]
DNASU; 10194; -.
Ensembl; ENST00000322038; ENSP00000323584; ENSG00000179981. [Q6ZSZ6-2]
Ensembl; ENST00000580243; ENSP00000464391; ENSG00000179981. [Q6ZSZ6-1]
GeneID; 10194; -.
KEGG; hsa:10194; -.
UCSC; uc002lly.4; human. [Q6ZSZ6-1]
CTD; 10194; -.
DisGeNET; 10194; -.
EuPathDB; HostDB:ENSG00000179981.9; -.
GeneCards; TSHZ1; -.
HGNC; HGNC:10669; TSHZ1.
HPA; HPA006982; -.
MalaCards; TSHZ1; -.
MIM; 607842; phenotype.
MIM; 614427; gene.
neXtProt; NX_Q6ZSZ6; -.
OpenTargets; ENSG00000179981; -.
Orphanet; 141074; External auditory canal aplasia/hypoplasia.
PharmGKB; PA35599; -.
eggNOG; ENOG410IJEQ; Eukaryota.
eggNOG; ENOG410XQQR; LUCA.
GeneTree; ENSGT00390000014977; -.
HOGENOM; HOG000231480; -.
HOVERGEN; HBG079626; -.
InParanoid; Q6ZSZ6; -.
KO; K09236; -.
OMA; YKISNSM; -.
OrthoDB; EOG091G01GX; -.
PhylomeDB; Q6ZSZ6; -.
TreeFam; TF328447; -.
ChiTaRS; TSHZ1; human.
GenomeRNAi; 10194; -.
PRO; PR:Q6ZSZ6; -.
Proteomes; UP000005640; Chromosome 18.
Bgee; ENSG00000179981; -.
CleanEx; HS_TSHZ1; -.
ExpressionAtlas; Q6ZSZ6; baseline and differential.
Genevisible; Q6ZSZ6; HS.
GO; GO:0005634; C:nucleus; IBA:GO_Central.
GO; GO:0003682; F:chromatin binding; IBA:GO_Central.
GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; ISA:NTNU_SB.
GO; GO:0001078; F:transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding; IBA:GO_Central.
GO; GO:0009952; P:anterior/posterior pattern specification; IEA:Ensembl.
GO; GO:0042474; P:middle ear morphogenesis; IEA:Ensembl.
GO; GO:0007275; P:multicellular organism development; IBA:GO_Central.
GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
GO; GO:0060023; P:soft palate development; IEA:Ensembl.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
CDD; cd00086; homeodomain; 1.
InterPro; IPR001356; Homeobox_dom.
InterPro; IPR027008; Teashirt_fam.
InterPro; IPR026808; Tshz1.
InterPro; IPR013087; Znf_C2H2_type.
PANTHER; PTHR12487; PTHR12487; 1.
PANTHER; PTHR12487:SF6; PTHR12487:SF6; 1.
SMART; SM00389; HOX; 1.
SMART; SM00355; ZnF_C2H2; 5.
PROSITE; PS00028; ZINC_FINGER_C2H2_1; 4.
PROSITE; PS50157; ZINC_FINGER_C2H2_2; 3.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Developmental protein;
DNA-binding; Homeobox; Metal-binding; Nucleus; Phosphoprotein;
Polymorphism; Reference proteome; Repeat; Repressor; Transcription;
Transcription regulation; Zinc; Zinc-finger.
CHAIN 1 1077 Teashirt homolog 1.
/FTId=PRO_0000047062.
ZN_FING 246 270 C2H2-type 1. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 307 331 C2H2-type 2. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 416 440 C2H2-type 3; atypical.
{ECO:0000255|PROSITE-ProRule:PRU00042}.
DNA_BIND 885 955 Homeobox; atypical.
ZN_FING 970 992 C2H2-type 4. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 1037 1060 C2H2-type 5. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
COMPBIAS 58 195 Ser-rich.
MOD_RES 765 765 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
VAR_SEQ 1 45 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039,
ECO:0000303|Ref.2}.
/FTId=VSP_040877.
VARIANT 666 666 L -> P (in dbSNP:rs55679337).
/FTId=VAR_061926.
CONFLICT 513 513 A -> T (in Ref. 5; BAD97265).
{ECO:0000305}.
CONFLICT 700 701 GK -> WE (in Ref. 4; AAC18047).
{ECO:0000305}.
CONFLICT 736 736 H -> R (in Ref. 1; BAC86800).
{ECO:0000305}.
CONFLICT 886 886 K -> E (in Ref. 1; BAC86800).
{ECO:0000305}.
SEQUENCE 1077 AA; 117916 MW; 15D44BA498DCEA37 CRC64;
MPRRKQQAPR RSAAYVPEEE LKAAEIDEEH VEDDGLSLDI QESEYMCNEE TEIKEAQSYQ
NSPVSSATNQ DAGYGSPFSE SSDQLAHFKG SSSREEKEDP QCPDSVSYPQ DSLAQIKAVY
ANLFSESCWS SLALDLKKSG STTSTNDASQ KESSAPTPTP PTCPVSTTGP TTSTPSTSCS
SSTSHSSTTS TSSSSGYDWH QAALAKTLQQ TSSYGLLPEP SLFSTVQLYR QNNKLYGSVF
TGASKFRCKD CSAAYDTLVE LTVHMNETGH YRDDNRDKDS EKTKRWSKPR KRSLMEMEGK
EDAQKVLKCM YCGHSFESLQ DLSVHMIKTK HYQKVPLKEP VPAITKLVPS TKKRALQDLA
PPCSPEPAGM AAEVALSESA KDQKAANPYV TPNNRYGYQN GASYTWQFEA RKAQILKCME
CGSSHDTLQQ LTAHMMVTGH FLKVTTSASK KGKQLVLDPV VEEKIQSIPL PPTTHTRLPA
SSIKKQPDSP AGSTTSEEKK EPEKEKPPVA GDAEKIKEES EDSLEKFEPS TLYPYLREED
LDDSPKGGLD ILKSLENTVS TAISKAQNGA PSWGGYPSIH AAYQLPGTVK PLPAAVQSVQ
VQPSYAGGVK SLSSAEHNAL LHSPGSLTPP PHKSNVSAME ELVEKVTGKV NIKKEERPPE
KEKSSLAKAA SPIAKENKDF PKTEEVSGKP QKKGPEAETG KAKKEGPLDV HTPNGTEPLK
AKVTNGCNNL GIIMDHSPEP SFINPLSALQ SIMNTHLGKV SKPVSPSLDP LAMLYKISNS
MLDKPVYPAT PVKQADAIDR YYYENSDQPI DLTKSKNKPL VSSVADSVAS PLRESALMDI
SDMVKNLTGR LTPKSSTPST VSEKSDADGS SFEEALDELS PVHKRKGRQS NWNPQHLLIL
QAQFASSLRE TTEGKYIMSD LGPQERVHIS KFTGLSMTTI SHWLANVKYQ LRRTGGTKFL
KNLDTGHPVF FCNDCASQFR TASTYISHLE THLGFSLKDL SKLPLNQIQE QQNVSKVLTN
KTLGPLGATE EDLGSTFQCK LCNRTFASKH AVKLHLSKTH GKSPEDHLIY VTELEKQ


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