KIFBP (kinesin family binding protein)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26128
Gene name Gene Name - the full gene name approved by the HGNC.
Kinesin family binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KIFBP
Synonyms (NCBI Gene) Gene synonyms aliases
KBP, KIAA1279, KIF1BP, TTC20
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs121434514 C>T Pathogenic Stop gained, genic upstream transcript variant, coding sequence variant
rs121434515 G>A,T Pathogenic Stop gained, missense variant, genic upstream transcript variant, coding sequence variant
rs730882150 C>A Pathogenic Coding sequence variant, upstream transcript variant, genic upstream transcript variant, stop gained
rs730882151 AG>- Pathogenic Coding sequence variant, upstream transcript variant, genic upstream transcript variant, frameshift variant
rs781469363 ->A Uncertain-significance, likely-pathogenic Coding sequence variant, frameshift variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 32814053
GO:0005739 Component Mitochondrion IDA 16225668
GO:0005856 Component Cytoskeleton IEA
GO:0006839 Process Mitochondrial transport IMP 16225668
GO:0007399 Process Nervous system development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609367 23419 ENSG00000198954
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96EK5
Protein name KIF-binding protein (KIF1-binding protein) (Kinesin family binding protein)
Protein 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|PubM
PDB 6ZPG , 6ZPH , 7RSI , 7RSQ , 7RYP , 7RYQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12309 KBP_C 247 → 614 KIF-1 binding protein C terminal Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart, brain, ovary, testis, spinal cord and all specific brain regions examined. Moderate expressed at intermediate level in all other adult tissues examined, as well as in fetal liver and brain. Not expressed in b
Sequence 
MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDER
PEAEDGPGAGDHALGLPAEVVEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVK
CLRLLRRYRLSHDCISLCIQAQNNLGILWSEREEIETAQAYLESSEALYNQYMKEVGSPP
LDPTERFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVYQHLEMFEKAAHYCHSTLKRQLE
HNAYHPIEWAINAATLSQFYINKLCFMEARHCLSAANVIFGQTGKISATEDTPEAEGEVP
ELYHQRKGEIARCWIKYCLTLMQNAQLSMQDNIGELDLDKQSELRALRKKELDEEESIRK
KAVQFGTGELCDAISAVEEKVSYLRPLDFEEARELFLLGQHYVFEAKEFFQIDGYVTDHI
EVVQDHSALFKVLAFFETDMERRCKMHKRRIAMLEPLTVDLNPQYYLLVNRQIQFEIAHA
YYDMMDLKVAIADRLRDPDSHIVKKINNLNKSALKYYQLFLDSLRDPNKVFPEHIGEDVL
RPAMLAKFRVARLYGKIITADPKKELENLATSLEHYKFIVDYCEKHPEAAQEIEVELELS
KEMVSLLPTKMERFRTKMALT
Sequence length 621
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (8)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Goldberg-shprintzen megacolon syndrome Goldberg-Shprintzen megacolon syndrome rs121434514, rs121434515, rs730882150, rs730882151, rs769950460, rs1293340864 15883926, 28277559, 23427148, 7338549
Hirschsprung disease Hirschsprung Disease rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323
View all (4 more)
Mental retardation Profound Mental Retardation, Mental deficiency, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)		 15883926
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Specific learning disorder Specific learning disability ClinVar
Shprintzen Syndrome Goldberg-Shprintzen syndrome GenCC
Schizophrenia Schizophrenia GWAS
Show/Hide Text Mining Associations (6)
Associations from Text Mining
Disease Name Relationship Type References
Autosomal Recessive Primary Microcephaly Associate 34100550
Enteritis Associate 15883926
Hirschsprung Disease Associate 15883926
Microcephaly Associate 34100550
Polymicrogyria Associate 15883926
Shprintzen Golberg craniosynostosis Associate 15883926, 32939943, 34100550