KIFBP
entrez
26128
canonical
uniprot
Q96EK5
canonical
ensembl
ENSG00000198954
resolver
ensp
ENSP00000354848
resolver
enst
ENST00000361983
resolver
genesymbol
KIFBP
resolver
genesymbol_syn
KBP
resolver
genesymbol_syn
KIAA1279
resolver
genesymbol_syn
KIF1BP
resolver
hgnc
HGNC:23419
resolver
uniprot
A8K5M8
resolver
uniprot
Q9BR89
resolver
uniprot
Q9ULE1
resolver
uniprot
Q9Y428
resolver
uniprot_entry
KBP_HUMAN
resolver
uniprot_sec
A8K5M8
resolver
uniprot_sec
Q9BR89
resolver
uniprot_sec
Q9ULE1
resolver
uniprot_sec
Q9Y428
resolver
amino_acid_sequence
MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQAQNNLGILWSEREEIETAQAYLESSEALYNQYMKEVGSPPLDPTERFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVYQHLEMFEKAAHYCHSTLKRQLEHNAYHPIEWAINAATLSQFYINKLCFMEARHCLSAANVIFGQTGKISATEDTPEAEGEVPELYHQRKGEIARCWIKYCLTLMQNAQLSMQDNIGELDLDKQSELRALRKKELDEEESIRKKAVQFGTGELCDAISAVEEKVSYLRPLDFEEARELFLLGQHYVFEAKEFFQIDGYVTDHIEVVQDHSALFKVLAFFETDMERRCKMHKRRIAMLEPLTVDLNPQYYLLVNRQIQFEIAHAYYDMMDLKVAIADRLRDPDSHIVKKINNLNKSALKYYQLFLDSLRDPNKVFPEHIGEDVLRPAMLAKFRVARLYGKIITADPKKELENLATSLEHYKFIVDYCEKHPEAAQEIEVELELSKEMVSLLPTKMERFRTKMALT
uniprot
proteins
disease_involvement
DISEASE: Goldberg-Shprintzen syndrome (GOSHS) [MIM:609460]: A disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease. {ECO:0000269|PubMed:15883926, ECO:0000269|PubMed:23427148}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Activator of KIF1B plus-end-directed microtubule motor activity (PubMed:16225668). Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development. {ECO:0000269|PubMed:16225668, ECO:0000269|PubMed:20621975, ECO:0000269|PubMed:23427148}.
uniprot
proteins
mass_dalton
71814
uniprot
proteins
protein_family
KIF-binding protein family
uniprot
proteins
pubmed
10574462
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15883926
uniprot
proteins
pubmed
16225668
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
20621975
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23427148
uniprot
proteins
sequence_length
621
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:16225668, ECO:0000269|PubMed:20621975, ECO:0000269|PubMed:23427148}.
uniprot
proteins