TSH1_HUMAN
ID TSH1_HUMAN Reviewed; 1077 AA.
AC Q6ZSZ6; O60534; Q4LE29; Q53EU4;
DT 10-JAN-2006, integrated into UniProtKB/Swiss-Prot.
DT 10-JAN-2006, sequence version 2.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=Teashirt homolog 1;
DE AltName: Full=Antigen NY-CO-33;
DE AltName: Full=Serologically defined colon cancer antigen 33;
GN Name=TSHZ1; Synonyms=SDCCAG33, TSH1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RA Nakajima D., Saito K., Yamakawa H., Kikuno R.F., Nakayama M., Ohara R.,
RA Okazaki N., Koga H., Nagase T., Ohara O.;
RT "Preparation of a set of expression-ready clones of mammalian long cDNAs
RT encoding large proteins by the ORF trap cloning method.";
RL Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 273-1077 (ISOFORMS 1/2).
RC TISSUE=Colon carcinoma;
RX PubMed=9610721;
RX DOI=10.1002/(sici)1097-0215(19980529)76:5<652::aid-ijc7>3.0.co;2-p;
RA Scanlan M.J., Chen Y.-T., Williamson B., Gure A.O., Stockert E.,
RA Gordan J.D., Tuereci O., Sahin U., Pfreundschuh M., Old L.J.;
RT "Characterization of human colon cancer antigens recognized by autologous
RT antibodies.";
RL Int. J. Cancer 76:652-658(1998).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 320-1077 (ISOFORMS 1/2).
RC TISSUE=Kidney;
RA Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP TISSUE SPECIFICITY.
RX PubMed=19343227; DOI=10.1371/journal.pone.0005071;
RA Kajiwara Y., Akram A., Katsel P., Haroutunian V., Schmeidler J.,
RA Beecham G., Haines J.L., Pericak-Vance M.A., Buxbaum J.D.;
RT "FE65 binds Teashirt, inhibiting expression of the primate-specific
RT caspase-4.";
RL PLoS ONE 4:E5071-E5071(2009).
RN [7]
RP INVOLVEMENT IN CAA.
RX PubMed=22152683; DOI=10.1016/j.ajhg.2011.11.008;
RA Feenstra I., Vissers L.E., Pennings R.J., Nillessen W., Pfundt R.,
RA Kunst H.P., Admiraal R.J., Veltman J.A., van Ravenswaaij-Arts C.M.,
RA Brunner H.G., Cremers C.W.;
RT "Disruption of teashirt zinc finger homeobox 1 is associated with
RT congenital aural atresia in humans.";
RL Am. J. Hum. Genet. 89:813-819(2011).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-765, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Probable transcriptional regulator involved in developmental
CC processes. May act as a transcriptional repressor (Potential).
CC {ECO:0000305}.
CC -!- SUBUNIT: Interacts (via homeobox domain) with APBB1 (via PID domain 1).
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q6ZSZ6; Q93009: USP7; NbExp=2; IntAct=EBI-11318342, EBI-302474;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6ZSZ6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZSZ6-2; Sequence=VSP_040877;
CC -!- TISSUE SPECIFICITY: Expressed in brain; strongly reduced in post-mortem
CC elderly subjects with Alzheimer disease. {ECO:0000269|PubMed:19343227}.
CC -!- DISEASE: Aural atresia, congenital (CAA) [MIM:607842]: A rare anomaly
CC of the ear that involves some degree of failure of the development of
CC the external auditory canal. The malformation can also involve the
CC tympanic membrane, ossicles and middle ear space. The inner ear
CC development is most often normal. Different CAA forms are known. CAA
CC type I is characterized by bony or fibrous atresia of the lateral part
CC of the external auditory canal and an almost normal medial part and
CC middle ear. CAA type II is the most frequent type and is characterized
CC by partial or total aplasia of the external auditory canal. CAA type
CC IIA involves an external auditory canal with either complete bony
CC atresia of the medial part or partial aplasia that ends blindly in a
CC fistula leading to a rudimentary tympanic membrane. CAA type IIB is
CC characterized by bony stenosis of the total length of the external
CC auditory canal. CAA type III involves bony atresia of the external
CC auditory canal and a very small or absent middle-ear cavity.
CC {ECO:0000269|PubMed:22152683}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the teashirt C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC18047.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAE06124.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK127042; BAC86800.1; -; mRNA.
DR EMBL; AB210042; BAE06124.1; ALT_INIT; mRNA.
DR EMBL; AC025105; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AF039698; AAC18047.1; ALT_FRAME; mRNA.
DR EMBL; AK223545; BAD97265.1; -; mRNA.
DR CCDS; CCDS12009.1; -. [Q6ZSZ6-2]
DR CCDS; CCDS77199.1; -. [Q6ZSZ6-1]
DR RefSeq; NP_001295139.1; NM_001308210.1. [Q6ZSZ6-1]
DR RefSeq; NP_005777.3; NM_005786.5. [Q6ZSZ6-2]
DR RefSeq; XP_005266698.1; XM_005266641.3. [Q6ZSZ6-2]
DR AlphaFoldDB; Q6ZSZ6; -.
DR SMR; Q6ZSZ6; -.
DR BioGRID; 115489; 12.
DR IntAct; Q6ZSZ6; 5.
DR MINT; Q6ZSZ6; -.
DR STRING; 9606.ENSP00000323584; -.
DR iPTMnet; Q6ZSZ6; -.
DR PhosphoSitePlus; Q6ZSZ6; -.
DR BioMuta; TSHZ1; -.
DR DMDM; 85683261; -.
DR EPD; Q6ZSZ6; -.
DR jPOST; Q6ZSZ6; -.
DR MassIVE; Q6ZSZ6; -.
DR MaxQB; Q6ZSZ6; -.
DR PaxDb; Q6ZSZ6; -.
DR PeptideAtlas; Q6ZSZ6; -.
DR PRIDE; Q6ZSZ6; -.
DR ProteomicsDB; 68249; -. [Q6ZSZ6-1]
DR ProteomicsDB; 68250; -. [Q6ZSZ6-2]
DR Antibodypedia; 1827; 194 antibodies from 30 providers.
DR DNASU; 10194; -.
DR Ensembl; ENST00000322038.5; ENSP00000323584.5; ENSG00000179981.11. [Q6ZSZ6-2]
DR Ensembl; ENST00000580243.3; ENSP00000464391.1; ENSG00000179981.11. [Q6ZSZ6-1]
DR GeneID; 10194; -.
DR KEGG; hsa:10194; -.
DR MANE-Select; ENST00000580243.3; ENSP00000464391.1; NM_001308210.2; NP_001295139.1.
DR UCSC; uc002lly.4; human. [Q6ZSZ6-1]
DR CTD; 10194; -.
DR DisGeNET; 10194; -.
DR GeneCards; TSHZ1; -.
DR HGNC; HGNC:10669; TSHZ1.
DR HPA; ENSG00000179981; Low tissue specificity.
DR MalaCards; TSHZ1; -.
DR MIM; 607842; phenotype.
DR MIM; 614427; gene.
DR neXtProt; NX_Q6ZSZ6; -.
DR OpenTargets; ENSG00000179981; -.
DR Orphanet; 141074; External auditory canal aplasia/hypoplasia.
DR PharmGKB; PA35599; -.
DR VEuPathDB; HostDB:ENSG00000179981; -.
DR eggNOG; ENOG502RJS7; Eukaryota.
DR GeneTree; ENSGT00950000183051; -.
DR HOGENOM; CLU_010469_0_0_1; -.
DR InParanoid; Q6ZSZ6; -.
DR OMA; TNQEAGY; -.
DR OrthoDB; 106971at2759; -.
DR PhylomeDB; Q6ZSZ6; -.
DR TreeFam; TF328447; -.
DR PathwayCommons; Q6ZSZ6; -.
DR SignaLink; Q6ZSZ6; -.
DR BioGRID-ORCS; 10194; 10 hits in 1099 CRISPR screens.
DR ChiTaRS; TSHZ1; human.
DR GenomeRNAi; 10194; -.
DR Pharos; Q6ZSZ6; Tbio.
DR PRO; PR:Q6ZSZ6; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q6ZSZ6; protein.
DR Bgee; ENSG00000179981; Expressed in jejunal mucosa and 189 other tissues.
DR ExpressionAtlas; Q6ZSZ6; baseline and differential.
DR Genevisible; Q6ZSZ6; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003677; F:DNA binding; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IEA:Ensembl.
DR GO; GO:0042474; P:middle ear morphogenesis; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0060023; P:soft palate development; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR027008; Teashirt_fam.
DR InterPro; IPR026808; Tshz1.
DR InterPro; IPR013087; Znf_C2H2_type.
DR PANTHER; PTHR12487; PTHR12487; 1.
DR PANTHER; PTHR12487:SF6; PTHR12487:SF6; 1.
DR SMART; SM00389; HOX; 1.
DR SMART; SM00355; ZnF_C2H2; 5.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 4.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 3.
PE 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; DNA-binding; Homeobox;
KW Metal-binding; Nucleus; Phosphoprotein; Reference proteome; Repeat;
KW Repressor; Transcription; Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..1077
FT /note="Teashirt homolog 1"
FT /id="PRO_0000047062"
FT ZN_FING 246..270
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 307..331
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 416..440
FT /note="C2H2-type 3; atypical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT DNA_BIND 885..955
FT /note="Homeobox; atypical"
FT ZN_FING 970..992
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 1037..1060
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 1..109
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 139..195
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 269..298
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 467..549
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 647..720
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 848..873
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 25..39
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 53..88
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 139..156
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 166..195
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 469..493
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 494..549
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 647..664
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 675..710
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 848..866
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 765
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..45
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039, ECO:0000303|Ref.2"
FT /id="VSP_040877"
FT VARIANT 666
FT /note="L -> P (in dbSNP:rs55679337)"
FT /id="VAR_061926"
FT CONFLICT 513
FT /note="A -> T (in Ref. 5; BAD97265)"
FT /evidence="ECO:0000305"
FT CONFLICT 700..701
FT /note="GK -> WE (in Ref. 4; AAC18047)"
FT /evidence="ECO:0000305"
FT CONFLICT 736
FT /note="H -> R (in Ref. 1; BAC86800)"
FT /evidence="ECO:0000305"
FT CONFLICT 886
FT /note="K -> E (in Ref. 1; BAC86800)"
FT /evidence="ECO:0000305"
SQ 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
