HMX1
entrez
3166
canonical
uniprot
Q9NP08
canonical
ensembl
ENSG00000215612
resolver
ensembl
ENSG00000288204
resolver
ensp
ENSP00000383516
resolver
ensp
ENSP00000446997
resolver
ensp
ENSP00000499825
resolver
ensp
ENSP00000500663
resolver
enst
ENST00000400677
resolver
enst
ENST00000506970
resolver
enst
ENST00000672610
resolver
enst
ENST00000673238
resolver
genesymbol
HMX1
resolver
genesymbol_syn
H6
resolver
hgnc
HGNC:5017
resolver
uniprot
A0ACM8QN04
resolver
uniprot
F1T0J4
resolver
uniprot
F8W1B1
resolver
uniprot_entry
A0ACM8QN04_HUMAN
resolver
uniprot_entry
F1T0J4_HUMAN
resolver
uniprot_entry
HMX1_HUMAN
resolver
uniprot_sec
F8W1B1
resolver
amino_acid_sequence
MPDELTEPGRATPARASSFLIENLLAAEAKGAGRATQGDGSREDEEEDDDDPEDEDAEQARRRRLQRRRQLLAGTGPGGEARARALLGPGALGLGPRPPPGPGPPFALGCGGAARWYPRAHGGYGGGLSPDTSDRDSPETGEEMGRAEGAWPRGPGPGAVQREAAELAARGPAAGTEEASELAEVPAAAGETRGGVGVGGGRKKKTRTVFSRSQVFQLESTFDLKRYLSSAERAGLAASLQLTETQVKIWFQNRRNKWKRQLAAELEAASLSPPGAQRLVRVPVLYHESPPAAAAAGPPATLPFPLAPAAPAPPPPLLGFSGALAYPLAAFPAAASVPFLRAQMPGLV
uniprot
proteins
disease_involvement
DISEASE: Oculoauricular syndrome (OCACS) [MIM:612109]: A syndrome characterized by microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear. {ECO:0000269|PubMed:18423520}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: DNA-binding protein that binds to the 5'-CAAG-3' core sequence. May function as a transcriptional repressor. Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as the eye and ear. {ECO:0000269|PubMed:10206974}.
uniprot
proteins
mass_dalton
36155
uniprot
proteins
protein_family
HMX homeobox family
uniprot
proteins
pubmed
10206974
uniprot
proteins
pubmed
1360670
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18423520
uniprot
proteins
sequence_length
348
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins