KIFBP (kinesin family binding protein)

Gene

• Entrez ID: 26128
• Gene name: Kinesin family binding protein
• Gene symbol: KIFBP
• Synonyms (NCBI Gene): KBP, KIAA1279, KIF1BP, TTC20
• Chromosome: 10
• Chromosome location: 10q22.1
• Summary: 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 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
rs1293340864	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0001701	Process	In utero embryonic development	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 28514442, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	16225668
GO:0005856	Component	Cytoskeleton	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0010970	Process	Transport along microtubule	IDA	33252036
GO:0019894	Function	Kinesin binding	IPI	16225668
GO:0021952	Process	Central nervous system projection neuron axonogenesis	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0047497	Process	Mitochondrion transport along microtubule	IMP	16225668
GO:0140311	Function	Protein sequestering activity	IDA	33252036
GO:1990535	Process	Neuron projection maintenance	IBA

Other IDs

• MIM: 609367
• HGNC: 23419
• e!Ensembl: ENSG00000198954

Protein

• 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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Goldberg-Shprintzen syndrome	Pathogenic; Likely pathogenic	rs2132119741, rs757081898, rs121434514, rs121434515, rs2132104341, rs730882150, rs730882151, rs2492297177, rs769950460, rs1293340864, rs770201721, rs2132120181	RCV001730013 RCV001730014 RCV001794428 RCV001794429 RCV002262190 RCV001795283 RCV001795284 RCV003340899 RCV000334908 RCV000500069 RCV001251036 RCV001449575

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Epilepsy	Uncertain significance	rs372342802	RCV005626804
KIFBP-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs148768851, rs144067344, rs62625033, rs781469363, rs776013730	RCV003935246 RCV003935247 RCV003975151 RCV003420051 RCV004756027
Ovarian serous cystadenocarcinoma	Uncertain significance	rs1037710551	RCV005937537
Peripheral neuropathy	Uncertain significance	rs767103634	RCV000449580
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs148768851	RCV005888133

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