TSHZ3
entrez
57616
canonical
uniprot
Q63HK5
canonical
ensembl
ENSG00000121297
resolver
ensp
ENSP00000240587
resolver
enst
ENST00000240587
resolver
genesymbol
TSHZ3
resolver
genesymbol_syn
KIAA1474
resolver
genesymbol_syn
TSH3
resolver
genesymbol_syn
ZNF537
resolver
hgnc
HGNC:30700
resolver
uniprot
A1L0U7
resolver
uniprot
Q9H0G6
resolver
uniprot
Q9P254
resolver
uniprot_entry
TSH3_HUMAN
resolver
uniprot_sec
A1L0U7
resolver
uniprot_sec
Q9H0G6
resolver
uniprot_sec
Q9P254
resolver
amino_acid_sequence
MPRRKQQAPRRAAAYVSEELKAAALVDEGLDPEEHTADGEPSAKYMCPEKELARACPSYQNSPAAEFSCHEMDSESHISETSDRMADFESGSIKNEEETKEVTVPLEDTTVSDSLEQMKAVYNNFLSNSYWSNLNLNLHQPSSEKNNGSSSSSSSSSSSCGSGSFDWHQSAMAKTLQQVSQSRMLPEPSLFSTVQLYRQSSKLYGSIFTGASKFRCKDCSAAYDTLVELTVHMNETGHYRDDNHETDNNNPKRWSKPRKRSLLEMEGKEDAQKVLKCMYCGHSFESLQDLSVHMIKTKHYQKVPLKEPVTPVAAKIIPATRKKASLELELPSSPDSTGGTPKATISDTNDALQKNSNPYITPNNRYGHQNGASYAWHFEARKSQILKCMECGSSHDTLQELTAHMMVTGHFIKVTNSAMKKGKPIVETPVTPTITTLLDEKVQSVPLAATTFTSPSNTPASISPKLNVEVKKEVDKEKAVTDEKPKQKDKPGEEEEKCDISSKYHYLTENDLEESPKGGLDILKSLENTVTSAINKAQNGTPSWGGYPSIHAAYQLPNMMKLSLGSSGKSTPLKPMFGNSEIVSPTKNQTLVSPPSSQTSPMPKTNFHAMEELVKKVTEKVAKVEEKMKEPDGKLSPPKRATPSPCSSEVGEPIKMEASSDGGFRSQENSPSPPRDGCKDGSPLAEPVENGKELVKPLASSLSGSTAIITDHPPEQPFVNPLSALQSVMNIHLGKAAKPSLPALDPMSMLFKMSNSLAEKAAVATPPPLQSKKADHLDRYFYHVNNDQPIDLTKGKSDKGCSLGSVLLSPTSTAPATSSSTVTTAKTSAVVSFMSNSPLRENALSDISDMLKNLTESHTSKSSTPSSISEKSDIDGATLEEAEESTPAQKRKGRQSNWNPQHLLILQAQFAASLRQTSEGKYIMSDLSPQERMHISRFTGLSMTTISHWLANVKYQLRRTGGTKFLKNLDTGHPVFFCNDCASQIRTPSTYISHLESHLGFRLRDLSKLSTEQINSQIAQTKSPSEKMVTSSPEEDLGTSYQCKLCNRTFASKHAVKLHLSKTHGKSPEDHLLYVSELEKQ
uniprot
proteins
disease_involvement
DISEASE: Note=TSHZ3 haploinsufficiency due to proximal chromosome 19q13.11 deletions causes a neurodevelopmental disorder characterized by developmental delay, absent or delayed speech, intellectual disability, and autistic features. Some patients may have reanal tract abnormalities. {ECO:0000269|PubMed:27668656}.
uniprot
proteins
function
FUNCTION: Transcriptional regulator involved in developmental processes. Functions in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. TSHZ3-mediated transcription repression involves the recruitment of histone deacetylases HDAC1 and HDAC2. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s) (PubMed:19343227). Regulates the development of neurons involved in both respiratory rhythm and airflow control. Promotes maintenance of nucleus ambiguus (nA) motoneurons, which govern upper airway function, and establishes a respiratory rhythm generator (RRG) activity compatible with survival at birth. Involved in the differentiation of the proximal uretic smooth muscle cells during developmental processes. Involved in the up-regulation of myocardin, that directs the expression of smooth muscle cells in the proximal ureter (By similarity). Involved in the modulation of glutamatergic synaptic transmission and long-term synaptic potentiation (By similarity). {ECO:0000250|UniProtKB:Q8CGV9, ECO:0000269|PubMed:19343227}.
uniprot
proteins
mass_dalton
118566
uniprot
proteins
mutagenesis
MUTAGEN 953..955; /note="VKY->ATA: Does not inhibit interaction with APBB1."; /evidence="ECO:0000269|PubMed:19343227
uniprot
proteins
protein_family
Teashirt C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
10819331
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18776146
uniprot
proteins
pubmed
19343227
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19745106
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
27668656
uniprot
proteins
sequence_length
1081
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:19343227}. Cell projection, growth cone {ECO:0000250}. Note=Colocalizes with APBB1 in axonal growth cone (By similarity). Colocalizes with APBB1 in the nucleus. {ECO:0000250}.
uniprot
proteins