LHX3
entrez
8022
canonical
uniprot
Q9UBR4
canonical
ensembl
ENSG00000107187
resolver
ensp
ENSP00000360811
resolver
ensp
ENSP00000360813
resolver
ensp
ENSP00000483080
resolver
enst
ENST00000619587
resolver
genesymbol
LHX3
resolver
hgnc
HGNC:6595
resolver
uniprot
A0A087X040
resolver
uniprot
F1T0D5
resolver
uniprot
F1T0D7
resolver
uniprot
F1T0D9
resolver
uniprot
Q5TB39
resolver
uniprot
Q5TB40
resolver
uniprot
Q9NZB5
resolver
uniprot
Q9P0I8
resolver
uniprot
Q9P0I9
resolver
uniprot_entry
A0A087X040_HUMAN
resolver
uniprot_entry
F1T0D5_HUMAN
resolver
uniprot_entry
F1T0D7_HUMAN
resolver
uniprot_entry
F1T0D9_HUMAN
resolver
uniprot_entry
LHX3_HUMAN
resolver
uniprot_sec
Q5TB39
resolver
uniprot_sec
Q5TB40
resolver
uniprot_sec
Q9NZB5
resolver
uniprot_sec
Q9P0I8
resolver
uniprot_sec
Q9P0I9
resolver
amino_acid_sequence
MLLETGLERDRARPGAAAVCTLGGTREIPLCAGCDQHILDRFILKALDRHWHSKCLKCSDCHTPLAERCFSRGESVYCKDDFFKRFGTKCAACQLGIPPTQVVRRAQDFVYHLHCFACVVCKRQLATGDEFYLMEDSRLVCKADYETAKQREAEATAKRPRTTITAKQLETLKSAYNTSPKPARHVREQLSSETGLDMRVVQVWFQNRRAKEKRLKKDAGRQRWGQYFRNMKRSRGGSKSDKDSVQEGQDSDAEVSFPDEPSLAEMGPANGLYGSLGEPTQALGRPSGALGNFSLEHGGLAGPEQYRELRPGSPYGVPPSPAAPQSLPGPQPLLSSLVYPDTSLGLVPSGAPGGPPPMRVLAGNGPSSDLSTGSSGGYPDFPASPASWLDEVDHAQF
uniprot
proteins
disease_involvement
DISEASE: Pituitary hormone deficiency, combined, 3 (CPHD3) [MIM:221750]: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD3 is characterized by a complete deficit in all but one (adrenocorticotropin) anterior pituitary hormone and a rigid cervical spine leading to limited head rotation. {ECO:0000269|PubMed:10835633, ECO:0000269|PubMed:17327381, ECO:0000269|PubMed:28302169}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor. Recognizes and binds to the consensus sequence motif 5'-AATTAATTA-3' in the regulatory elements of target genes, such as glycoprotein hormones alpha chain CGA and visual system homeobox CHX10, positively modulating transcription; transcription can be co-activated by LDB2. Synergistically enhances transcription from the prolactin promoter in cooperation with POU1F1/Pit-1 (By similarity). Required for the establishment of the specialized cells of the pituitary gland and the nervous system (PubMed:21149718). Involved in the development of interneurons and motor neurons in cooperation with LDB1 and ISL1 (By similarity). {ECO:0000250|UniProtKB:P50481, ECO:0000269|PubMed:21149718}.
uniprot
proteins
mass_dalton
43358
uniprot
proteins
pubmed
10598593
uniprot
proteins
pubmed
10835633
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15517599
uniprot
proteins
pubmed
17327381
uniprot
proteins
pubmed
21149718
uniprot
proteins
pubmed
26612202
uniprot
proteins
pubmed
28302169
uniprot
proteins
sequence_length
397
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins