EPS8L3
entrez
79574
canonical
uniprot
Q8TE67
canonical
ensembl
ENSG00000198758
resolver
ensp
ENSP00000354551
resolver
ensp
ENSP00000355255
resolver
ensp
ENSP00000358820
resolver
ensp
ENSP00000559032
resolver
ensp
ENSP00000559037
resolver
ensp
ENSP00000559042
resolver
genesymbol
EPS8L3
resolver
genesymbol_syn
EPS8R3
resolver
hgnc
HGNC:21297
resolver
uniprot
A8K2J6
resolver
uniprot
A8K833
resolver
uniprot
Q5T8Q6
resolver
uniprot
Q5T8Q7
resolver
uniprot
Q5T8Q8
resolver
uniprot
Q96E47
resolver
uniprot
Q9H719
resolver
uniprot_entry
A8K2J6_HUMAN
resolver
uniprot_entry
ES8L3_HUMAN
resolver
uniprot_sec
A8K833
resolver
uniprot_sec
Q5T8Q6
resolver
uniprot_sec
Q5T8Q7
resolver
uniprot_sec
Q5T8Q8
resolver
uniprot_sec
Q96E47
resolver
uniprot_sec
Q9H719
resolver
amino_acid_sequence
MSRPSSRAIYLHRKEYSQNLTSEPTLLQHRVEHLMTCKQGSQRVQGPEDALQKLFEMDAQGRVWSQDLILQVRDGWLQLLDIETKEELDSYRLDSIQAMNVALNTCSYNSILSITVQEPGLPGTSTLLFQCQEVGAERLKTSLQKALEEELEQRPRLGGLQPGQDRWRGPAMERPLPMEQARYLEPGIPPEQPHQRTLEHSLPPSPRPLPRHTSAREPSAFTLPPPRRSSSPEDPERDEEVLNHVLRDIELFMGKLEKAQAKTSRKKKFGKKNKDQGGLTQAQYIDCFQKIKHSFNLLGRLATWLKETSAPELVHILFKSLNFILARCPEAGLAAQVISPLLTPKAINLLQSCLSPPESNLWMGLGPAWTTSRADWTGDEPLPYQPTFSDDWQLPEPSSQAPLGYQDPVSLRRGSHRLGSTSHFPQEKTHNHDPQPGDPNSRPSSPKPAQPALKMQVLYEFEARNPRELTVVQGEKLEVLDHSKRWWLVKNEAGRSGYIPSNILEPLQPGTPGTQGQSPSRVPMLRLSSRPEEVTDWLQAENFSTATVRTLGSLTGSQLLRIRPGELQMLCPQEAPRILSRLEAVRRMLGISP
uniprot
proteins
disease_involvement
DISEASE: Hypotrichosis 5 (HYPT5) [MIM:612841]: A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT5 is an autosomal dominant form characterized by little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal. {ECO:0000269|PubMed:23099647}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
66861
uniprot
proteins
protein_family
EPS8 family
uniprot
proteins
pubmed
12620401
uniprot
proteins
pubmed
14565974
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19807924
uniprot
proteins
pubmed
23099647
uniprot
proteins
pubmed
23186163
uniprot
proteins
sequence_length
593
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14565974}.
uniprot
proteins