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

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

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See KIFBP in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (68988803..69016982)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (69858236..69886421)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    KIF-binding protein
    Names
    KIF1 binding protein
    kinesin binding protein
    mutant KIF1 binding protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_015634.4NP_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:247613
      KBP_C; KIF-1 binding protein C terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_017016067.2XP_016871556.1  KIF-binding protein isoform X1

      Conserved Domains (1) summary
      pfam12309
      Location:1347
      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_054365527.1XP_054221502.1  KIF-binding protein isoform X1