TSHZ1
entrez
10194
canonical
uniprot
Q6ZSZ6
canonical
ensembl
ENSG00000179981
resolver
ensp
ENSP00000323584
resolver
ensp
ENSP00000464391
resolver
genesymbol
TSHZ1
resolver
genesymbol_syn
SDCCAG33
resolver
genesymbol_syn
TSH1
resolver
hgnc
HGNC:10669
resolver
uniprot
A7YF73
resolver
uniprot
O60534
resolver
uniprot
Q4LE29
resolver
uniprot
Q53EU4
resolver
uniprot_entry
A7YF73_HUMAN
resolver
uniprot_entry
TSH1_HUMAN
resolver
uniprot_sec
O60534
resolver
uniprot_sec
Q4LE29
resolver
uniprot_sec
Q53EU4
resolver
amino_acid_sequence
MPRRKQQAPRRSAAYVPEEELKAAEIDEEHVEDDGLSLDIQESEYMCNEETEIKEAQSYQNSPVSSATNQDAGYGSPFSESSDQLAHFKGSSSREEKEDPQCPDSVSYPQDSLAQIKAVYANLFSESCWSSLALDLKKSGSTTSTNDASQKESSAPTPTPPTCPVSTTGPTTSTPSTSCSSSTSHSSTTSTSSSSGYDWHQAALAKTLQQTSSYGLLPEPSLFSTVQLYRQNNKLYGSVFTGASKFRCKDCSAAYDTLVELTVHMNETGHYRDDNRDKDSEKTKRWSKPRKRSLMEMEGKEDAQKVLKCMYCGHSFESLQDLSVHMIKTKHYQKVPLKEPVPAITKLVPSTKKRALQDLAPPCSPEPAGMAAEVALSESAKDQKAANPYVTPNNRYGYQNGASYTWQFEARKAQILKCMECGSSHDTLQQLTAHMMVTGHFLKVTTSASKKGKQLVLDPVVEEKIQSIPLPPTTHTRLPASSIKKQPDSPAGSTTSEEKKEPEKEKPPVAGDAEKIKEESEDSLEKFEPSTLYPYLREEDLDDSPKGGLDILKSLENTVSTAISKAQNGAPSWGGYPSIHAAYQLPGTVKPLPAAVQSVQVQPSYAGGVKSLSSAEHNALLHSPGSLTPPPHKSNVSAMEELVEKVTGKVNIKKEERPPEKEKSSLAKAASPIAKENKDFPKTEEVSGKPQKKGPEAETGKAKKEGPLDVHTPNGTEPLKAKVTNGCNNLGIIMDHSPEPSFINPLSALQSIMNTHLGKVSKPVSPSLDPLAMLYKISNSMLDKPVYPATPVKQADAIDRYYYENSDQPIDLTKSKNKPLVSSVADSVASPLRESALMDISDMVKNLTGRLTPKSSTPSTVSEKSDADGSSFEEALDELSPVHKRKGRQSNWNPQHLLILQAQFASSLRETTEGKYIMSDLGPQERVHISKFTGLSMTTISHWLANVKYQLRRTGGTKFLKNLDTGHPVFFCNDCASQFRTASTYISHLETHLGFSLKDLSKLPLNQIQEQQNVSKVLTNKTLGPLGATEEDLGSTFQCKLCNRTFASKHAVKLHLSKTHGKSPEDHLIYVTELEKQ
uniprot
proteins
disease_involvement
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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential). {ECO:0000305}.
uniprot
proteins
mass_dalton
117916
uniprot
proteins
protein_family
Teashirt C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
19343227
uniprot
proteins
pubmed
22152683
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
9610721
uniprot
proteins
sequence_length
1077
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins