KIFBP kinesin family binding protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: KIFBPprovided by HGNC
Official Full Name: kinesin family binding proteinprovided by HGNC
Primary source: HGNC:HGNC:23419
See related: Ensembl:ENSG00000198954 MIM:609367; AllianceGenome:HGNC:23419
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KBP; TTC20; KIF1BP; KIAA1279
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 are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]
Expression: Ubiquitous expression in brain (RPKM 14.4), testis (RPKM 9.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (68988803..69016982)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (69858236..69886421)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (70748559..70776738)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene.
Title: Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene.
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
Title: Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
The mechanism of kinesin inhibition by kinesin-binding protein.
Title: The mechanism of kinesin inhibition by kinesin-binding protein.
KBP acts as a protein buffer in mitosis, protecting cells from excessive KIF18A and KIF15 activity to promote accurate chromosome segregation.
Title: Kinesin-binding protein ensures accurate chromosome segregation by buffering KIF18A and KIF15.
Both Kif15 and KBP are required for the alignment of all the chromosomes to the metaphase plate and the assembly of stable kinetochore fibers of the correct length.
Title: Role of Kif15 and its novel mitotic partner KBP in K-fiber dynamics and chromosome alignment.
Data suggest that KBP functions as a kinesin inhibitor that modulates MT-based cargo motility and depolymerizing activity of a subset of kinesin motors. We propose that misregulation of KBP-controlled kinesin motors may represent the underlying molecular mechanism that contributes to the neuropathological defects observed in Goldberg-Shprintzen syndrome patients.
Title: Kinesin-Binding Protein Controls Microtubule Dynamics and Cargo Trafficking by Regulating Kinesin Motor Activity.
A report on fetal cases with a homozygous mutation in KBP gene in a consanguineous Pakistani family with isolated polymicrogyria.
Title: Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
KBP-cytoskeleton interactions is involved in neuronal development in Goldberg-Shprintzen syndrome.
Title: KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
KBP is a new binding partner for KIF1Balpha that is a regulator of its transport function and thus represents a new type of kinesin interacting protein.
Title: The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Goldberg-Shprintzen syndrome MedGen: C1836123 OMIM: 609460 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G49388 (e-PCR)
- UniSTS:109143

G20424 (e-PCR)
- UniSTS:34213

A005Q41 (e-PCR)
- UniSTS:34214

SHGC-36771 (e-PCR)
- UniSTS:81886

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables kinesin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein sequestering activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in central nervous system projection neuron axonogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrion transport along microtubule	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection maintenance	IBA Inferred from Biological aspect of Ancestor more info
involved_in transport along microtubule	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: KIF-binding protein

Names: KIF1 binding protein; kinesin binding protein; mutant KIF1 binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_017061.1 RefSeqGene

Range

5083..33262

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_015634.4 → NP_056449.1 KIF-binding protein

See identical proteins and their annotated locations for NP_056449.1

Status: REVIEWED

Source sequence(s)

AL050190, BC006427, DA292451

Consensus CDS

CCDS7284.1

UniProtKB/Swiss-Prot

A8K5M8, Q96EK5, Q9BR89, Q9ULE1, Q9Y428

UniProtKB/TrEMBL

A0A6Q8PH45

Related

ENSP00000354848.4, ENST00000361983.7

Conserved Domains (1) summary

pfam12309
Location:247 → 613

KBP_C; KIF-1 binding protein C terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

68988803..69016982

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017016067.2 → XP_016871556.1 KIF-binding protein isoform X1

Conserved Domains (1) summary

pfam12309
Location:1 → 347

KBP_C; KIF-1 binding protein C terminal