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Kif1bp Gene Detail
Summary
  • Symbol
    Kif1bp
  • Name
    KIF1 binding protein
  • Synonyms
    0710007C18Rik, 2510003E04Rik, mKIAA1279
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919570
    NCBI Gene: 72320
Location & Maps
more
  • Sequence Map
    Chr10:62538626-62578457 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      39832 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    KIF1BP, KIF1 binding protein
  • Vertebrate Orthologs
    10
  • Human Ortholog
    KIF1BP, KIF1 binding protein
    Orthology source: HomoloGene
  • Synonyms
    KBP, KIAA1279, TTC20
  • Links
    NCBI Gene ID: 26128
    neXtProt AC: NX_Q96EK5

  • Chr Location
    10q22.1; chr10:68988721-69016983 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 9223
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: KIF1BP
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human KIF1BP associations

Human Disease Mouse Models
       Goldberg-Shprintzen Syndrome; GOSHS   OMIM: 609460
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 2 genetic backgrounds
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (other)
    1
  • Gene trapped
    7
  • Radiation induced
    1
  • Targeted
    2
  • Genomic Mutations
    2 involving Kif1bp
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031220 VEGA Gene Model | MGI Sequence Detail 39832 C57BL/6J ±  kb
transcript OTTMUST00000077349 VEGA | MGI Sequence Detail 2472 Not Applicable  
polypeptide OTTMUSP00000040875 VEGA | MGI Sequence Detail 617 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    117 from dbSNP Build 137
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000009599 KIF1-binding protein
  • InterPro Domains
    IPR022083 KIF-1 binding protein
    IPR011990 Tetratricopeptide-like helical domain
Molecular
Reagents
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  • All nucleic 11
    cDNA 11

    Microarray probesets 4
Other
Accession IDs
less
MGI:1915665
References
more
  • Summaries
    All 30
    Gene Ontology 3
    Phenotypes 13
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory