TRIM44
entrez
54765
canonical
uniprot
Q96DX7
canonical
ensembl
ENSG00000166326
resolver
ensp
ENSP00000299413
resolver
ensp
ENSP00000521411
resolver
enst
ENST00000299413
resolver
genesymbol
TRIM44
resolver
genesymbol_syn
DIPB
resolver
hgnc
HGNC:19016
resolver
uniprot
D3DR14
resolver
uniprot
Q96QY2
resolver
uniprot
Q9UGK0
resolver
uniprot_entry
TRI44_HUMAN
resolver
uniprot_sec
D3DR14
resolver
uniprot_sec
Q96QY2
resolver
uniprot_sec
Q9UGK0
resolver
amino_acid_sequence
MASGVGAAFEELPHDGTCDECEPDEAPGAEEVCRECGFCYCRRHAEAHRQKFLSHHLAEYVHGSQAWTPPADGEGAGKEEAEVKVEQEREIESEAGEESESEEESESEEESETEEESEDESDEESEEDSEEEMEDEQESEAEEDNQEEGESEAEGETEAESEFDPEIEMEAERVAKRKCPDHGLDLSTYCQEDRQLICVLCPVIGAHQGHQLSTLDEAFEELRSKDSGGLKAAMIELVERLKFKSSDPKVTRDQMKMFIQQEFKKVQKVIADEEQKALHLVDIQEAMATAHVTEILADIQSHMDRLMTQMAQAKEQLDTSNESAEPKAEGDEEGPSGASEEEDT
uniprot
proteins
disease_involvement
DISEASE: Aniridia 3 (AN3) [MIM:617142]: A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. {ECO:0000269|PubMed:26394807}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role in the process of differentiation and maturation of neuronal cells (By similarity). May regulate the activity of TRIM17. Is a negative regulator of PAX6 expression (PubMed:26394807). {ECO:0000250, ECO:0000269|PubMed:19358823, ECO:0000269|PubMed:26394807}.
uniprot
proteins
mass_dalton
38472
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
19358823
uniprot
proteins
pubmed
26394807
uniprot
proteins
sequence_length
344
uniprot
proteins