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Protein

Teashirt homolog 1

Gene

TSHZ1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential).Curated

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri246 – 27025C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri307 – 33125C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri416 – 44025C2H2-type 3; atypicalPROSITE-ProRule annotationAdd
BLAST
DNA bindingi885 – 95571Homeobox; atypicalAdd
BLAST
Zinc fingeri970 – 99223C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1037 – 106024C2H2-type 5PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Teashirt homolog 1
Alternative name(s):
Antigen NY-CO-33
Serologically defined colon cancer antigen 33
Gene namesi
Name:TSHZ1
Synonyms:SDCCAG33, TSH1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:10669. TSHZ1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Aural atresia, congenital (CAA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:607842

Organism-specific databases

MalaCardsiTSHZ1.
MIMi607842. phenotype.
Orphaneti141074. External auditory canal aplasia/hypoplasia.
PharmGKBiPA35599.

Polymorphism and mutation databases

BioMutaiTSHZ1.
DMDMi85683261.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10771077Teashirt homolog 1PRO_0000047062Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei765 – 7651PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6ZSZ6.
MaxQBiQ6ZSZ6.
PaxDbiQ6ZSZ6.
PeptideAtlasiQ6ZSZ6.
PRIDEiQ6ZSZ6.

PTM databases

iPTMnetiQ6ZSZ6.
PhosphoSiteiQ6ZSZ6.

Expressioni

Tissue specificityi

Expressed in brain; strongly reduced in post-mortem elderly subjects with Alzheimer disease.1 Publication

Gene expression databases

BgeeiQ6ZSZ6.
CleanExiHS_TSHZ1.
ExpressionAtlasiQ6ZSZ6. baseline and differential.
GenevisibleiQ6ZSZ6. HS.

Organism-specific databases

HPAiHPA006982.

Interactioni

Subunit structurei

Interacts (via homeobox domain) with APBB1 (via PID domain 1).By similarity

Protein-protein interaction databases

BioGridi115489. 2 interactions.
IntActiQ6ZSZ6. 1 interaction.
STRINGi9606.ENSP00000323584.

Structurei

3D structure databases

ProteinModelPortaliQ6ZSZ6.
SMRiQ6ZSZ6. Positions 232-335.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi58 – 195138Ser-richAdd
BLAST

Sequence similaritiesi

Contains 5 C2H2-type zinc fingers.PROSITE-ProRule annotation
Contains 1 homeobox DNA-binding domain.Curated

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri246 – 27025C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri307 – 33125C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri416 – 44025C2H2-type 3; atypicalPROSITE-ProRule annotationAdd
BLAST
Zinc fingeri970 – 99223C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1037 – 106024C2H2-type 5PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Homeobox, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IJEQ. Eukaryota.
ENOG410XQQR. LUCA.
GeneTreeiENSGT00390000014977.
HOGENOMiHOG000231480.
HOVERGENiHBG079626.
InParanoidiQ6ZSZ6.
KOiK09236.
OMAiKTKRWSK.
OrthoDBiEOG7NPFSF.
PhylomeDBiQ6ZSZ6.
TreeFamiTF328447.

Family and domain databases

InterProiIPR001356. Homeobox_dom.
IPR027008. Teashirt_fam.
IPR026808. Tshz1.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
[Graphical view]
PANTHERiPTHR12487. PTHR12487. 1 hit.
PTHR12487:SF6. PTHR12487:SF6. 1 hit.
SMARTiSM00389. HOX. 1 hit.
SM00355. ZnF_C2H2. 5 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 4 hits.
PS50157. ZINC_FINGER_C2H2_2. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6ZSZ6-1) [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
MPRRKQQAPR RSAAYVPEEE LKAAEIDEEH VEDDGLSLDI QESEYMCNEE
60 70 80 90 100
TEIKEAQSYQ NSPVSSATNQ DAGYGSPFSE SSDQLAHFKG SSSREEKEDP
110 120 130 140 150
QCPDSVSYPQ DSLAQIKAVY ANLFSESCWS SLALDLKKSG STTSTNDASQ
160 170 180 190 200
KESSAPTPTP PTCPVSTTGP TTSTPSTSCS SSTSHSSTTS TSSSSGYDWH
210 220 230 240 250
QAALAKTLQQ TSSYGLLPEP SLFSTVQLYR QNNKLYGSVF TGASKFRCKD
260 270 280 290 300
CSAAYDTLVE LTVHMNETGH YRDDNRDKDS EKTKRWSKPR KRSLMEMEGK
310 320 330 340 350
EDAQKVLKCM YCGHSFESLQ DLSVHMIKTK HYQKVPLKEP VPAITKLVPS
360 370 380 390 400
TKKRALQDLA PPCSPEPAGM AAEVALSESA KDQKAANPYV TPNNRYGYQN
410 420 430 440 450
GASYTWQFEA RKAQILKCME CGSSHDTLQQ LTAHMMVTGH FLKVTTSASK
460 470 480 490 500
KGKQLVLDPV VEEKIQSIPL PPTTHTRLPA SSIKKQPDSP AGSTTSEEKK
510 520 530 540 550
EPEKEKPPVA GDAEKIKEES EDSLEKFEPS TLYPYLREED LDDSPKGGLD
560 570 580 590 600
ILKSLENTVS TAISKAQNGA PSWGGYPSIH AAYQLPGTVK PLPAAVQSVQ
610 620 630 640 650
VQPSYAGGVK SLSSAEHNAL LHSPGSLTPP PHKSNVSAME ELVEKVTGKV
660 670 680 690 700
NIKKEERPPE KEKSSLAKAA SPIAKENKDF PKTEEVSGKP QKKGPEAETG
710 720 730 740 750
KAKKEGPLDV HTPNGTEPLK AKVTNGCNNL GIIMDHSPEP SFINPLSALQ
760 770 780 790 800
SIMNTHLGKV SKPVSPSLDP LAMLYKISNS MLDKPVYPAT PVKQADAIDR
810 820 830 840 850
YYYENSDQPI DLTKSKNKPL VSSVADSVAS PLRESALMDI SDMVKNLTGR
860 870 880 890 900
LTPKSSTPST VSEKSDADGS SFEEALDELS PVHKRKGRQS NWNPQHLLIL
910 920 930 940 950
QAQFASSLRE TTEGKYIMSD LGPQERVHIS KFTGLSMTTI SHWLANVKYQ
960 970 980 990 1000
LRRTGGTKFL KNLDTGHPVF FCNDCASQFR TASTYISHLE THLGFSLKDL
1010 1020 1030 1040 1050
SKLPLNQIQE QQNVSKVLTN KTLGPLGATE EDLGSTFQCK LCNRTFASKH
1060 1070
AVKLHLSKTH GKSPEDHLIY VTELEKQ
Length:1,077
Mass (Da):117,916
Last modified:January 10, 2006 - v2
Checksum:i15D44BA498DCEA37
GO
Isoform 2 (identifier: Q6ZSZ6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-45: Missing.

Show »
Length:1,032
Mass (Da):112,705
Checksum:i12194FC86313C970
GO

Sequence cautioni

The sequence AAC18047.1 differs from that shown. Reason: Frameshift at positions 304 and 1048. Curated
The sequence BAE06124.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti513 – 5131A → T in BAD97265 (Ref. 5) Curated
Sequence conflicti700 – 7012GK → WE in AAC18047 (PubMed:9610721).Curated
Sequence conflicti736 – 7361H → R in BAC86800 (PubMed:14702039).Curated
Sequence conflicti886 – 8861K → E in BAC86800 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti666 – 6661L → P.
Corresponds to variant rs55679337 [ dbSNP | Ensembl ].
VAR_061926

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4545Missing in isoform 2. 2 PublicationsVSP_040877Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK127042 mRNA. Translation: BAC86800.1.
AB210042 mRNA. Translation: BAE06124.1. Different initiation.
AC025105 Genomic DNA. No translation available.
AF039698 mRNA. Translation: AAC18047.1. Frameshift.
AK223545 mRNA. Translation: BAD97265.1.
CCDSiCCDS12009.1. [Q6ZSZ6-2]
CCDS77199.1. [Q6ZSZ6-1]
RefSeqiNP_001295139.1. NM_001308210.1. [Q6ZSZ6-1]
NP_005777.3. NM_005786.5. [Q6ZSZ6-2]
XP_005266698.1. XM_005266641.2. [Q6ZSZ6-2]
UniGeneiHs.284217.

Genome annotation databases

EnsembliENST00000322038; ENSP00000323584; ENSG00000179981. [Q6ZSZ6-2]
ENST00000580243; ENSP00000464391; ENSG00000179981. [Q6ZSZ6-1]
GeneIDi10194.
KEGGihsa:10194.
UCSCiuc002lly.4. human. [Q6ZSZ6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK127042 mRNA. Translation: BAC86800.1.
AB210042 mRNA. Translation: BAE06124.1. Different initiation.
AC025105 Genomic DNA. No translation available.
AF039698 mRNA. Translation: AAC18047.1. Frameshift.
AK223545 mRNA. Translation: BAD97265.1.
CCDSiCCDS12009.1. [Q6ZSZ6-2]
CCDS77199.1. [Q6ZSZ6-1]
RefSeqiNP_001295139.1. NM_001308210.1. [Q6ZSZ6-1]
NP_005777.3. NM_005786.5. [Q6ZSZ6-2]
XP_005266698.1. XM_005266641.2. [Q6ZSZ6-2]
UniGeneiHs.284217.

3D structure databases

ProteinModelPortaliQ6ZSZ6.
SMRiQ6ZSZ6. Positions 232-335.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115489. 2 interactions.
IntActiQ6ZSZ6. 1 interaction.
STRINGi9606.ENSP00000323584.

PTM databases

iPTMnetiQ6ZSZ6.
PhosphoSiteiQ6ZSZ6.

Polymorphism and mutation databases

BioMutaiTSHZ1.
DMDMi85683261.

Proteomic databases

EPDiQ6ZSZ6.
MaxQBiQ6ZSZ6.
PaxDbiQ6ZSZ6.
PeptideAtlasiQ6ZSZ6.
PRIDEiQ6ZSZ6.

Protocols and materials databases

DNASUi10194.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322038; ENSP00000323584; ENSG00000179981. [Q6ZSZ6-2]
ENST00000580243; ENSP00000464391; ENSG00000179981. [Q6ZSZ6-1]
GeneIDi10194.
KEGGihsa:10194.
UCSCiuc002lly.4. human. [Q6ZSZ6-1]

Organism-specific databases

CTDi10194.
GeneCardsiTSHZ1.
HGNCiHGNC:10669. TSHZ1.
HPAiHPA006982.
MalaCardsiTSHZ1.
MIMi607842. phenotype.
614427. gene.
neXtProtiNX_Q6ZSZ6.
Orphaneti141074. External auditory canal aplasia/hypoplasia.
PharmGKBiPA35599.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJEQ. Eukaryota.
ENOG410XQQR. LUCA.
GeneTreeiENSGT00390000014977.
HOGENOMiHOG000231480.
HOVERGENiHBG079626.
InParanoidiQ6ZSZ6.
KOiK09236.
OMAiKTKRWSK.
OrthoDBiEOG7NPFSF.
PhylomeDBiQ6ZSZ6.
TreeFamiTF328447.

Miscellaneous databases

ChiTaRSiTSHZ1. human.
GenomeRNAii10194.
PROiQ6ZSZ6.
SOURCEiSearch...

Gene expression databases

BgeeiQ6ZSZ6.
CleanExiHS_TSHZ1.
ExpressionAtlasiQ6ZSZ6. baseline and differential.
GenevisibleiQ6ZSZ6. HS.

Family and domain databases

InterProiIPR001356. Homeobox_dom.
IPR027008. Teashirt_fam.
IPR026808. Tshz1.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
[Graphical view]
PANTHERiPTHR12487. PTHR12487. 1 hit.
PTHR12487:SF6. PTHR12487:SF6. 1 hit.
SMARTiSM00389. HOX. 1 hit.
SM00355. ZnF_C2H2. 5 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 4 hits.
PS50157. ZINC_FINGER_C2H2_2. 3 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "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.
    , 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  2. "Preparation of a set of expression-ready clones of mammalian long cDNAs encoding large proteins by the ORF trap cloning method."
    Nakajima D., Saito K., Yamakawa H., Kikuno R.F., Nakayama M., Ohara R., Okazaki N., Koga H., Nagase T., Ohara O.
    Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Characterization of human colon cancer antigens recognized by autologous antibodies."
    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.
    Int. J. Cancer 76:652-658(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 273-1077 (ISOFORMS 1/2).
    Tissue: Colon carcinoma.
  5. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 320-1077 (ISOFORMS 1/2).
    Tissue: Kidney.
  6. Cited for: TISSUE SPECIFICITY.
  7. Cited for: INVOLVEMENT IN CAA.
  8. "Toward a comprehensive characterization of a human cancer cell phosphoproteome."
    Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
    J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-765, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Erythroleukemia.

Entry informationi

Entry nameiTSH1_HUMAN
AccessioniPrimary (citable) accession number: Q6ZSZ6
Secondary accession number(s): O60534, Q4LE29, Q53EU4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: January 10, 2006
Last modified: July 6, 2016
This is version 119 of the entry and version 2 of the sequence. [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 18
    Human chromosome 18: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.