KIF12

Motor protein found in humans
KIF12
Identifiers
AliasesKIF12, kinesin family member 12
External IDsOMIM: 611278; MGI: 1098232; HomoloGene: 7796; GeneCards: KIF12; OMA:KIF12 - orthologs
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for KIF12
Genomic location for KIF12
Band9q32Start114,086,126 bp[1]
End114,099,291 bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for KIF12
Genomic location for KIF12
Band4|4 B3Start63,083,867 bp[2]
End63,090,368 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • body of pancreas

  • gallbladder

  • right lobe of liver

  • right uterine tube

  • left lobe of thyroid gland

  • right lobe of thyroid gland

  • human kidney

  • mucosa of transverse colon

  • testicle

  • renal medulla
Top expressed in
  • right kidney

  • proximal tubule

  • islet of Langerhans

  • human kidney

  • epithelium of small intestine

  • medullary collecting duct

  • efferent ductule

  • embryo

  • yolk sac

  • lumbar spinal ganglion
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • microtubule binding
  • microtubule motor activity
  • nucleotide binding
  • ATPase activity
  • ATP binding
  • molecular function
Cellular component
  • cytoplasm
  • microtubule
  • extracellular exosome
  • cytoskeleton
  • kinesin complex
Biological process
  • microtubule-based movement
  • biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

113220

16552

Ensembl

ENSG00000136883

ENSMUSG00000028357

UniProt

Q96FN5

Q9D2Z8

RefSeq (mRNA)

NM_138424

NM_010616
NM_001317352

RefSeq (protein)

NP_612433

NP_001304281
NP_034746

Location (UCSC)Chr 9: 114.09 – 114.1 MbChr 4: 63.08 – 63.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Kinesin family member 12 (KIF12), also known as kinesin-12, is a human protein encoded by the gene KIF12. It is part of the kinesin family of motor proteins.

Clinical significance

Mutations in KIF12 are associated with cholestatic liver disease.[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136883 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028357 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Stalke, Amelie; Sgodda, Malte; Cantz, Tobias; Skawran, Britta; Lainka, Elke; Hartleben, Björn; Baumann, Ulrich; Pfister, Eva-Doreen (January 2022). "KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease". The Journal of Pediatrics. 240: 284–291.e9. doi:10.1016/j.jpeds.2021.09.019. PMID 34555379. S2CID 237615302.
  • v
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Human
Microfilaments
and ABPs
Myofilament
Actins
Myosins
Other
Other
Intermediate
filaments
Type 1/2
(Keratin,
Cytokeratin)
Epithelial keratins
(soft alpha-keratins)
Hair keratins
(hard alpha-keratins)
Ungrouped alpha
Not alpha
Type 3
Type 4
Type 5
Microtubules
and MAPs
Tubulins
MAPs
Kinesins
Dyneins
Microtubule organising proteins
Microtubule severing proteins
Other
Catenins
Membrane
Other
Nonhuman
See also: cytoskeletal defects


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