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

    Gene ID: 26128, updated on 2-Nov-2024

    Summary

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    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
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    Genomic context

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    See KIFBP in Genome Data Viewer
    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_000010.11Genomic Context describing neighboring genes Neighboring gene DExD-box helicase 50 Neighboring gene RNA, U6 small nuclear 571, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3472 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:70715903-70716684 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:70716685-70717465 Neighboring gene DExD-box helicase 21 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3474 Neighboring gene mediator complex subunit 28 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2425 Neighboring gene ACTB pseudogene 14 Neighboring gene uncharacterized LOC105378342 Neighboring gene Sharpr-MPRA regulatory region 5024 Neighboring gene MPRA-validated peak1005 silencer

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome. Salehpour S, et al. Iran J Child Neurol, 2017 Winter. PMID 28277559, Free PMC Article
    2. Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene. Ooi JCE, et al. Clin Genet, 2024 Feb. PMID 37903629
    3. Kinesin-binding protein ensures accurate chromosome segregation by buffering KIF18A and KIF15. Malaby HLH, et al. J Cell Biol, 2019 Apr 1. PMID 30709852, Free PMC Article
    4. Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. Brooks AS, et al. Am J Hum Genet, 2005 Jul. PMID 15883926, Free PMC Article
    5. Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria. Valence S, et al. Neurogenetics, 2013 Nov. PMID 24072599

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. The mechanism of kinesin inhibition by kinesin-binding protein.
      Title: The mechanism of kinesin inhibition by kinesin-binding protein.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. KBP-cytoskeleton interactions is involved in neuronal development in Goldberg-Shprintzen syndrome.
      Title: KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp586B0923

    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

    1. NG_017061.1 RefSeqGene

      Range
      5083..33262
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      68988803..69016982
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      69858236..69886421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365527.1 → XP_054221502.1  KIF-binding protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96EK5.1 GenPept UniProtKB/Swiss-Prot:Q96EK5

    Gene LinkOut

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