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KIF1BP KIF1 binding protein [ Homo sapiens (human) ]

Gene ID: 26128, updated on 3-Jun-2018
Official Symbol
KIF1BPprovided by HGNC
Official Full Name
KIF1 binding proteinprovided by HGNC
Primary source
HGNC:HGNC:23419
See related
Ensembl:ENSG00000198954 MIM:609367; Vega:OTTHUMG00000018363
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; 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
See KIF1BP in Genome Data Viewer
Location:
10q22.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (68988721..69016983)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (70748477..70776739)

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 DExD-box helicase 21 Neighboring gene mediator complex subunit 28 pseudogene 1 Neighboring gene actin, beta pseudogene 14 Neighboring gene uncharacterized LOC105378342

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp586B0923

Gene Ontology Provided by GOA

Function Evidence Code Pubs
kinesin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
mitochondrial transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
nervous system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
KIF1-binding protein
Names
kinesin binding protein
mutant KIF1 binding protein

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
    5001..33263
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015634.3NP_056449.1  KIF1-binding protein

    See identical proteins and their annotated locations for NP_056449.1

    Status: REVIEWED

    Source sequence(s)
    AI491993, AL050190, BC006427, DA292451
    Consensus CDS
    CCDS7284.1
    UniProtKB/Swiss-Prot
    Q96EK5
    Related
    ENSP00000354848.4, OTTHUMP00000019712, ENST00000361983.6, OTTHUMT00000048370
    Conserved Domains (1) summary
    pfam12309
    Location:247613
    KBP_C; KIF-1 binding protein C terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    68988721..69016983
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016067.1XP_016871556.1  KIF1-binding protein isoform X1

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