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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIFBP-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	34100550	Associate	★☆☆☆☆ Found in Text Mining only
Blepharophimosis syndrome Ohdo type	Blepharophimosis-Mental Retardation Syndrome	BEFREE	24715367		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30527193		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Ulcer	Corneal Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	CTD_human_DG	15883926		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31176015		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28438778		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Goldberg-Shprintzen megacolon syndrome	Goldberg-Shprintzen Megacolon Syndrome	CTD_human_DG	15883926		★☆☆☆☆ Found in Text Mining only
Goldberg-Shprintzen megacolon syndrome	Goldberg-Shprintzen Megacolon Syndrome	ORPHANET_DG	15883926, 23427148		★☆☆☆☆ Found in Text Mining only
Goldberg-Shprintzen megacolon syndrome	Goldberg-Shprintzen Megacolon Syndrome	GENOMICS_ENGLAND_DG	15883926, 28277559, 7338549		★☆☆☆☆ Found in Text Mining only
Goldberg-Shprintzen megacolon syndrome	Goldberg-Shprintzen Megacolon Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Goldberg-Shprintzen megacolon syndrome	Goldberg-Shprintzen Megacolon Syndrome	BEFREE	20621975, 21187955, 23427148, 24715367, 25846562, 31736709		★☆☆☆☆ Found in Text Mining only
Goldberg-Shprintzen megacolon syndrome	Goldberg-Shprintzen Megacolon Syndrome	CLINVAR_DG	28277559		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	15883926, 21187955, 23427148		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	15883926	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28438778		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	18332248		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	15883926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	CTD_human_DG	15883926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	BEFREE	30527193		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	15883926		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	CTD_human_DG	15883926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	BEFREE	31736709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	34100550	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microlissencephaly	Microlissencephaly	CTD_human_DG	15883926		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23427148		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28438778		★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	31736709		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	31736709		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polymicrogyria	Polymicrogyria	Pubtator	15883926	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	23427148		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	15883926		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30795801		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	30150316		★☆☆☆☆ Found in Text Mining only
Severe Congenital Microcephaly	Congenital Microcephaly	CTD_human_DG	15883926		★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only