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Protein

Teashirt homolog 1

Gene

TSHZ1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
Zinc fingeri246 – 270C2H2-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri307 – 331C2H2-type 2PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri416 – 440C2H2-type 3; atypicalPROSITE-ProRule annotationAdd BLAST25
DNA bindingi885 – 955Homeobox; atypicalAdd BLAST71
Zinc fingeri970 – 992C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1037 – 1060C2H2-type 5PROSITE-ProRule annotationAdd BLAST24

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-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

EuPathDBiHostDB:ENSG00000179981.9
HGNCiHGNC:10669 TSHZ1
MIMi614427 gene
neXtProtiNX_Q6ZSZ6

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

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

DisGeNETi10194
MalaCardsiTSHZ1
MIMi607842 phenotype
OpenTargetsiENSG00000179981
Orphaneti141074 External auditory canal aplasia/hypoplasia
PharmGKBiPA35599

Polymorphism and mutation databases

BioMutaiTSHZ1
DMDMi85683261

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000470621 – 1077Teashirt homolog 1Add BLAST1077

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei765PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6ZSZ6
MaxQBiQ6ZSZ6
PaxDbiQ6ZSZ6
PeptideAtlasiQ6ZSZ6
PRIDEiQ6ZSZ6
ProteomicsDBi68249
68250 [Q6ZSZ6-2]

PTM databases

iPTMnetiQ6ZSZ6
PhosphoSitePlusiQ6ZSZ6

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000179981 Expressed in 207 organ(s), highest expression level in endometrium
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, 3 interactors
IntActiQ6ZSZ6, 1 interactor
MINTiQ6ZSZ6
STRINGi9606.ENSP00000323584

Structurei

3D structure databases

ProteinModelPortaliQ6ZSZ6
SMRiQ6ZSZ6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi58 – 195Ser-richAdd BLAST138

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri246 – 270C2H2-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri307 – 331C2H2-type 2PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri416 – 440C2H2-type 3; atypicalPROSITE-ProRule annotationAdd BLAST25
Zinc fingeri970 – 992C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1037 – 1060C2H2-type 5PROSITE-ProRule annotationAdd BLAST24

Keywords - Domaini

Homeobox, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IJEQ Eukaryota
ENOG410XQQR LUCA
GeneTreeiENSGT00390000014977
HOGENOMiHOG000231480
HOVERGENiHBG079626
InParanoidiQ6ZSZ6
KOiK09236
OMAiYKISNSM
OrthoDBiEOG091G01GX
PhylomeDBiQ6ZSZ6
TreeFamiTF328447

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR001356 Homeobox_dom
IPR027008 Teashirt_fam
IPR026808 Tshz1
IPR013087 Znf_C2H2_type
PANTHERiPTHR12487 PTHR12487, 1 hit
PTHR12487:SF6 PTHR12487:SF6, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SM00355 ZnF_C2H2, 5 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 4 hits
PS50157 ZINC_FINGER_C2H2_2, 3 hits

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YN23H0YN23_HUMAN
Teashirt homolog 1
TSHZ1
276Annotation score:
H0YKA1H0YKA1_HUMAN
Teashirt homolog 1
TSHZ1
78Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti513A → T in BAD97265 (Ref. 5) Curated1
Sequence conflicti700 – 701GK → WE in AAC18047 (PubMed:9610721).Curated2
Sequence conflicti736H → R in BAC86800 (PubMed:14702039).Curated1
Sequence conflicti886K → E in BAC86800 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061926666L → P. Corresponds to variant dbSNP:rs55679337Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0408771 – 45Missing in isoform 2. 2 PublicationsAdd BLAST45

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_005266641.3 [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

Similar proteinsi

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_005266641.3 [Q6ZSZ6-2]
UniGeneiHs.284217

3D structure databases

ProteinModelPortaliQ6ZSZ6
SMRiQ6ZSZ6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115489, 3 interactors
IntActiQ6ZSZ6, 1 interactor
MINTiQ6ZSZ6
STRINGi9606.ENSP00000323584

PTM databases

iPTMnetiQ6ZSZ6
PhosphoSitePlusiQ6ZSZ6

Polymorphism and mutation databases

BioMutaiTSHZ1
DMDMi85683261

Proteomic databases

EPDiQ6ZSZ6
MaxQBiQ6ZSZ6
PaxDbiQ6ZSZ6
PeptideAtlasiQ6ZSZ6
PRIDEiQ6ZSZ6
ProteomicsDBi68249
68250 [Q6ZSZ6-2]

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
DisGeNETi10194
EuPathDBiHostDB:ENSG00000179981.9
GeneCardsiTSHZ1
HGNCiHGNC:10669 TSHZ1
HPAiHPA006982
MalaCardsiTSHZ1
MIMi607842 phenotype
614427 gene
neXtProtiNX_Q6ZSZ6
OpenTargetsiENSG00000179981
Orphaneti141074 External auditory canal aplasia/hypoplasia
PharmGKBiPA35599
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJEQ Eukaryota
ENOG410XQQR LUCA
GeneTreeiENSGT00390000014977
HOGENOMiHOG000231480
HOVERGENiHBG079626
InParanoidiQ6ZSZ6
KOiK09236
OMAiYKISNSM
OrthoDBiEOG091G01GX
PhylomeDBiQ6ZSZ6
TreeFamiTF328447

Miscellaneous databases

ChiTaRSiTSHZ1 human
GenomeRNAii10194
PROiPR:Q6ZSZ6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179981 Expressed in 207 organ(s), highest expression level in endometrium
CleanExiHS_TSHZ1
ExpressionAtlasiQ6ZSZ6 baseline and differential
GenevisibleiQ6ZSZ6 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR001356 Homeobox_dom
IPR027008 Teashirt_fam
IPR026808 Tshz1
IPR013087 Znf_C2H2_type
PANTHERiPTHR12487 PTHR12487, 1 hit
PTHR12487:SF6 PTHR12487:SF6, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SM00355 ZnF_C2H2, 5 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 4 hits
PS50157 ZINC_FINGER_C2H2_2, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiTSH1_HUMAN
AccessioniPrimary (citable) accession number: Q6ZSZ6
Secondary accession number(s): O60534, Q4LE29, Q53EU4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: January 10, 2006
Last modified: October 10, 2018
This is version 137 of the entry and version 2 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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