REPS1
entrez
85021
canonical
uniprot
Q96D71
canonical
ensembl
ENSG00000135597
resolver
ensp
ENSP00000258062
resolver
ensp
ENSP00000356635
resolver
ensp
ENSP00000386699
resolver
ensp
ENSP00000392065
resolver
ensp
ENSP00000434251
resolver
ensp
ENSP00000556505
resolver
ensp
ENSP00000556513
resolver
ensp
ENSP00000556526
resolver
ensp
ENSP00000556528
resolver
ensp
ENSP00000583855
resolver
ensp
ENSP00000583857
resolver
genesymbol
REPS1
resolver
hgnc
HGNC:15578
resolver
uniprot
B2R7D3
resolver
uniprot
B7ZBZ8
resolver
uniprot
B7ZBZ9
resolver
uniprot
B7ZC00
resolver
uniprot
J3KP76
resolver
uniprot
Q5JWJ5
resolver
uniprot
Q5JWJ6
resolver
uniprot
Q5JWJ7
resolver
uniprot
Q8NDR7
resolver
uniprot
Q8WU62
resolver
uniprot
Q9BXY9
resolver
uniprot_entry
B2R7D3_HUMAN
resolver
uniprot_entry
REPS1_HUMAN
resolver
uniprot_sec
B7ZBZ8
resolver
uniprot_sec
B7ZBZ9
resolver
uniprot_sec
B7ZC00
resolver
uniprot_sec
J3KP76
resolver
uniprot_sec
Q5JWJ5
resolver
uniprot_sec
Q5JWJ6
resolver
uniprot_sec
Q5JWJ7
resolver
uniprot_sec
Q8NDR7
resolver
uniprot_sec
Q8WU62
resolver
uniprot_sec
Q9BXY9
resolver
amino_acid_sequence
MEGLTLSDAEQKYYSDLFSYCDIESTKKVVVNGRVLELFRAAQLPNDVVLQIMELCGATRLGYFGRSQFYIALKLVAVAQSGFPLRVESINTVKDLPLPRFVASKNEQESRHAASYSSDSENQGSYSGVIPPPPGRGQVKKGSVSHDTVQPRTSADAQEPASPVVSPQQSPPTSPHTWRKHSRHPSGGNSERPLAGPGPFWSPFGEAQSGSSAGDAVWSGHSPPPPQENWVSFADTPPTSTLLTMHPASVQDQTTVRTVASATTAIEIRRQSSSYDDPWKITDEQRQYYVNQFKTIQPDLNGFIPGSAAKEFFTKSKLPILELSHIWELSDFDKDGALTLDEFCAAFHLVVARKNGYDLPEKLPESLMPKLIDLEDSADVGDQPGEVGYSGSPAEAPPSKSPSMPSLNQTWPELNQSSEQWETFSERSSSSQTLTQFDSNIAPADPDTAIVHPVPIRMTPSKIHMQEMELKRTGSDHTNPTSPLLVKPSDLLEENKINSSVKFASGNTVADGYSSSDSFTSDPEQIGSNVTRQRSHSGTSPDNTAPPPPPPRPQPSHSRSSSLDMNRTFTVTTGQQQAGVVAHPPAVPPRPQPSQAPGPAVHRPVDADGLITHTSTSPQQIPEQPNFADFSQFEVFAASNVNDEQDDEAEKHPEVLPAEKASDPASSLRVAKTDSKTEEKTAASAPANVSKGTTPLAPPPKPVRRRLKSEDELRPEVDEHTQKTGVLAAVLASQPSIPRSVGKDKKAIQASIRRNKETNTVLARLNSELQQQLKDVLEERISLEVQLEQLRPFSHL
uniprot
proteins
disease_involvement
DISEASE: Neurodegeneration with brain iron accumulation 7 (NBIA7) [MIM:617916]: A neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. Clinical features include speech and motor delay, truncal hypotonia, progressive cerebellar ataxia, and loss of ambulation. NBIA7 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:29395073}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May coordinate the cellular actions of activated EGF receptors and Ral-GTPases. {ECO:0000250}.
uniprot
proteins
mass_dalton
86662
uniprot
proteins
post_translational_modification
PTM: EGF stimulates phosphorylation on Tyr-residues. {ECO:0000250}.
uniprot
proteins
pubmed
11750063
uniprot
proteins
pubmed
12364336
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16344560
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20946875
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
29395073
uniprot
proteins
sequence_length
796
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane, clathrin-coated pit {ECO:0000269|PubMed:20946875}. Note=Colocalize with ITSN1 at the plasma membrane in structures that are most probably clathrin-coated pits.
uniprot
proteins