ELMOD3
entrez
84173
canonical
uniprot
Q96FG2
canonical
ensembl
ENSG00000115459
resolver
ensp
ENSP00000318264
resolver
ensp
ENSP00000377434
resolver
ensp
ENSP00000386248
resolver
ensp
ENSP00000387139
resolver
ensp
ENSP00000401984
resolver
ensp
ENSP00000563388
resolver
ensp
ENSP00000563389
resolver
ensp
ENSP00000563390
resolver
ensp
ENSP00000563392
resolver
ensp
ENSP00000563393
resolver
ensp
ENSP00000563395
resolver
ensp
ENSP00000626694
resolver
ensp
ENSP00000626698
resolver
ensp
ENSP00000668908
resolver
ensp
ENSP00000691082
resolver
ensp
ENSP00000691098
resolver
genesymbol
ELMOD3
resolver
genesymbol_syn
RBED1
resolver
genesymbol_syn
RBM29
resolver
hgnc
HGNC:26158
resolver
uniprot
B8ZZD6
resolver
uniprot
D6W5K4
resolver
uniprot
Q2M1K3
resolver
uniprot
Q2XSU3
resolver
uniprot
Q2XSU4
resolver
uniprot
Q8NAC1
resolver
uniprot
Q8TCK4
resolver
uniprot
Q8WV70
resolver
uniprot
Q8WY75
resolver
uniprot
Q9H6Q8
resolver
uniprot_entry
ELMD3_HUMAN
resolver
uniprot_sec
B8ZZD6
resolver
uniprot_sec
D6W5K4
resolver
uniprot_sec
Q2M1K3
resolver
uniprot_sec
Q2XSU3
resolver
uniprot_sec
Q2XSU4
resolver
uniprot_sec
Q8NAC1
resolver
uniprot_sec
Q8TCK4
resolver
uniprot_sec
Q8WV70
resolver
uniprot_sec
Q8WY75
resolver
uniprot_sec
Q9H6Q8
resolver
amino_acid_sequence
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVSTEVVRAQEEWEAVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIAQCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRLSRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYAATFLHLAHVWRTQRKTISDSGFVLKELEVLAKKSPRRLLKTLELYLARVSKGQASLLGAQKCYGPEAPPFKDLTFTGESDLQSHSSEGVWLI
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 88 (DFNB88) [MIM:615429]: A form of non-syndromic deafness characterized by prelingual onset of severe to profound mixed conductive and sensorineural hearing loss. {ECO:0000269|PubMed:24039609}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal dominant, 81 (DFNA81) [MIM:619500]: A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DNFA81 is characterized by postlingual onset of slowly progressive deafness. {ECO:0000269|PubMed:29713870}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity. {ECO:0000269|PubMed:24039609}.
uniprot
proteins
mass_dalton
43046
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
24039609
uniprot
proteins
pubmed
29713870
uniprot
proteins
sequence_length
381
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, stereocilium {ECO:0000269|PubMed:24039609}. Cell projection, kinocilium {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:24039609, ECO:0000269|PubMed:29713870}. Note=Also present in the cuticular plate of auditory hair cells. Expressed along the length of the stereocilia, but excluded from the very tip (By similarity). Colocalizes with F-actin cytoskeleton. {ECO:0000269|PubMed:29713870}.
uniprot
proteins