RBSN
entrez
64145
canonical
uniprot
Q9H1K0
canonical
ensembl
ENSG00000131381
resolver
ensp
ENSP00000253699
resolver
ensp
ENSP00000422551
resolver
ensp
ENSP00000575211
resolver
ensp
ENSP00000608387
resolver
ensp
ENSP00000615250
resolver
genesymbol
RBSN
resolver
genesymbol_syn
ZFYVE20
resolver
hgnc
HGNC:20759
resolver
uniprot
A8K5H3
resolver
uniprot
B4DWY8
resolver
uniprot
C9J4P5
resolver
uniprot
Q3KP30
resolver
uniprot
Q59EY8
resolver
uniprot
Q8NAQ1
resolver
uniprot_entry
A8K5H3_HUMAN
resolver
uniprot_entry
RBNS5_HUMAN
resolver
uniprot_sec
B4DWY8
resolver
uniprot_sec
C9J4P5
resolver
uniprot_sec
Q3KP30
resolver
uniprot_sec
Q59EY8
resolver
uniprot_sec
Q8NAQ1
resolver
amino_acid_sequence
MASLDDPGEVREGFLCPLCLKDLQSFYQLHSHYEEEHSGEDRDVKGQIKSLVQKAKKAKDRLLKREGDDRAESGTQGYESFSYGGVDPYMWEPQELGAVRSHLSDFKKHRAARIDHYVVEVNKLIIRLEKLTAFDRTNTESAKIRAIEKSVVPWVNDQDVPFCPDCGNKFSIRNRRHHCRLCGSIMCKKCMELISLPLANKLTSASKESLSTHTSPSQSPNSVHGSRRGSISSMSSVSSVLDEKDDDRIRCCTHCKDTLLKREQQIDEKEHTPDIVKLYEKLRLCMEKVDQKAPEYIRMAASLNAGETTYSLEHASDLRVEVQKVYELIDALSKKILTLGLNQDPPPHPSNLRLQRMIRYSATLFVQEKLLGLMSLPTKEQFEELKKKRKEEMERKRAVERQAALESQRRLEERQSGLASRAANGEVASLRRGPAPLRKAEGWLPLSGGQGQSEDSDPLLQQIHNITSFIRQAKAAGRMDEVRTLQENLRQLQDEYDQQQTEKAIELSRRQAEEEDLQREQLQMLRERELEREREQFRVASLHTRTRSLDFREIGPFQLEPSREPRTHLAYALDLGSSPVPSSTAPKTPSLSSTQPTRVWSGPPAVGQERLPQSSMPQQHEGPSLNPFDEEDLSSPMEEATTGPPAAGVSLDPSARILKEYNPFEEEDEEEEAVAGNPFIQPDSPAPNPFSEEDEHPQQRLSSPLVPGNPFEEPTCINPFEMDSDSGPEAEEPIEEELLLQQIDNIKAYIFDAKQCGRLDEVEVLTENLRELKHTLAKQKGGTD
uniprot
proteins
disease_involvement
DISEASE: Kariminejad neurodevelopmental syndrome (KAREVS) [MIM:620937]: An autosomal recessive disorder characterized by global developmental delay, progressive muscle weakness, facial dysmorphisms, ophthalmoplegia and intellectual disability. {ECO:0000269|PubMed:35652444}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities (MFANDO) [MIM:620939]: An autosomal recessive disorder characterized by neutropenia, anemia, thrombocytopenia, and myelofibrosis. Additional features include global developmental delay, osteopenia, delayed bone age, ocular abnormalities, and facial dysmorphism. {ECO:0000269|PubMed:29784638}. Note=The disease is caused by variants affecting the gene represented in this entry. The genetic variation NM_022340.3:c.289G>C producing the missense variant p.Gly97Arg has been shown to predominantly affect splicing, leading to skipping of exon 5 or presence of an alternative exon 5a or retention of exon 5 and its neighboring introns. In one family, the homozygous proband showed no normally spliced transcript, while in her heterozygous father, normal transcripts represented 45%. The protein resulting from this aberrant splicing may be unstable, as it could not be detected in the proband's cells. {ECO:0000269|PubMed:29784638}.
uniprot
proteins
function
FUNCTION: Rab4/Rab5 effector protein acting in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Required for endosome fusion either homotypically or with clathrin coated vesicles. Plays a role in the lysosomal trafficking of CTSD/cathepsin D from the Golgi to lysosomes. Also promotes the recycling of transferrin directly from early endosomes to the plasma membrane. Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate (PtdInsP3) (PubMed:11062261, PubMed:11788822, PubMed:15020713). Plays a role in the recycling of transferrin receptor to the plasma membrane (PubMed:22308388). {ECO:0000269|PubMed:11062261, ECO:0000269|PubMed:11788822, ECO:0000269|PubMed:15020713, ECO:0000269|PubMed:22308388}.
uniprot
proteins
mass_dalton
88870
uniprot
proteins
mutagenesis
MUTAGEN 626..628; /note="NPF->APA: Reduces the interaction with EHD1. Abolishes the interaction with EHD1; when associated with 662-APA-664."; /evidence="ECO:0000269|PubMed:15020713"; MUTAGEN 662..664; /note="NPF->APA: Reduces the interaction with EHD1. Abolishes the interaction with EHD1; when associated with 626-APA-628."; /evidence="ECO:0000269|PubMed:15020713
uniprot
proteins
pubmed
11062261
uniprot
proteins
pubmed
11788822
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15020713
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16034420
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
20098723
uniprot
proteins
pubmed
22308388
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25233840
uniprot
proteins
pubmed
29784638
uniprot
proteins
pubmed
35652444
uniprot
proteins
sequence_length
784
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side. Early endosome membrane {ECO:0000269|PubMed:22308388, ECO:0000269|PubMed:35652444}; Lipid-anchor. Note=Enriched in endosomes that are in close proximity to clathrin-enriched regions at the cell surface. {ECO:0000269|PubMed:22308388}.
uniprot
proteins