Human Gene KIF13A (ENST00000259711.11_7) from GENCODE V45lift37
  Description: Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA. (from RefSeq NM_022113)
RefSeq Summary (NM_022113): This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011].
Gencode Transcript: ENST00000259711.11_7
Gencode Gene: ENSG00000137177.20_11
Transcript (Including UTRs)
   Position: hg19 chr6:17,763,924-17,987,866 Size: 223,943 Total Exon Count: 39 Strand: -
Coding Region
   Position: hg19 chr6:17,764,341-17,987,694 Size: 223,354 Coding Exon Count: 39 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2024-04-24 11:59:55

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:17,763,924-17,987,866)mRNA (may differ from genome)Protein (1805 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KI13A_HUMAN
DESCRIPTION: RecName: Full=Kinesin-like protein KIF13A; AltName: Full=Kinesin-like protein RBKIN;
FUNCTION: Plus end-directed microtubule-dependent motor protein involved in intracellular transport and regulating various processes such as mannose-6-phosphate receptor (M6PR) transport to the plasma membrane, endosomal sorting during melanosome biogenesis and cytokinesis. Mediates the transport of M6PR-containing vesicles from trans-Golgi network to the plasma membrane via direct interaction with the AP-1 complex. During melanosome maturation, required for delivering melanogenic enzymes from recycling endosomes to nascent melanosomes by creating peripheral recycling endosomal subdomains in melanocytes. Also required for the abcission step in cytokinesis: mediates translocation of ZFYVE26, and possibly TTC19, to the midbody during cytokinesis.
SUBUNIT: Interacts with AP2B1 (By similarity). Interacts with ZFYVE26. Interacts with AP1G1 and AP1G2.
INTERACTION: Q9H1H9; Q9NQM4: DNAAF6; NbExp=3; IntAct=EBI-1759129, EBI-10239299; Q9H1H9-2; Q10567-3: AP1B1; NbExp=3; IntAct=EBI-12216695, EBI-11978055; Q9H1H9-2; D3DTS7: PMP22; NbExp=3; IntAct=EBI-12216695, EBI-25882629;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Midbody. Endosome membrane. Golgi apparatus membrane Note=Recruited to the midbody during cytokinesis.
TISSUE SPECIFICITY: Widely expressed, with highest levels in heart, brain and skeletal muscle.
DEVELOPMENTAL STAGE: Expressed at very low level in most fetal tissues, but at higher levels in skeletal muscle and lung.
SIMILARITY: Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KIF13A
CDC HuGE Published Literature: KIF13A
Positive Disease Associations: height , Prostatic Neoplasms
Related Studies:
  1. height
    Gudbjartsson ,et al. 2008, Many sequence variants affecting diversity of adult human height, Nature genetics 2008 40- 5 : 609-15. [PubMed 18391951]
  2. Prostatic Neoplasms
    Sha Tao et al. Carcinogenesis 2012, A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants., Carcinogenesis. [PubMed 22219177]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.49 RPKM in Artery - Coronary
Total median expression: 340.09 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -112.50172-0.654 Picture PostScript Text
3' UTR -90.60417-0.217 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000253 - FHA_dom
IPR022164 - Kinesin-like
IPR022140 - Kinesin-like_KIF1-typ
IPR032405 - Kinesin_assoc
IPR019821 - Kinesin_motor_CS
IPR001752 - Kinesin_motor_dom
IPR036961 - Kinesin_motor_dom_sf
IPR027417 - P-loop_NTPase
IPR008984 - SMAD_FHA_dom_sf

Pfam Domains:
PF12473 - Kinesin protein
PF00498 - FHA domain
PF12423 - Kinesin protein 1B
PF00225 - Kinesin motor domain
PF16183 - Kinesin-associated

ModBase Predicted Comparative 3D Structure on Q9H1H9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003777 microtubule motor activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008017 microtubule binding
GO:0016887 ATPase activity

Biological Process:
GO:0006886 intracellular protein transport
GO:0007018 microtubule-based movement
GO:0007049 cell cycle
GO:0008333 endosome to lysosome transport
GO:0015031 protein transport
GO:0032438 melanosome organization
GO:0032465 regulation of cytokinesis
GO:0035459 cargo loading into vesicle
GO:0043001 Golgi to plasma membrane protein transport
GO:0051301 cell division
GO:0072383 plus-end-directed vesicle transport along microtubule

Cellular Component:
GO:0000139 Golgi membrane
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005856 cytoskeleton
GO:0005871 kinesin complex
GO:0005874 microtubule
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0030496 midbody
GO:0032588 trans-Golgi network membrane


-  Descriptions from all associated GenBank mRNAs
  LP896415 - Sequence 1279 from Patent EP3253886.
AJ291579 - Homo sapiens mRNA for KINESIN-13A2 (KIN13A gene).
AJ291578 - Homo sapiens mRNA for KINESIN-13A1 (KIN13A gene).
AY014403 - Homo sapiens kinesin-like protein RBKIN1 (RBKIN) mRNA, complete cds, alternatively spliced.
AY014404 - Homo sapiens kinesin-like protein RBKIN2 (RBKIN) mRNA, complete cds, alternatively spliced.
BC127115 - Homo sapiens kinesin family member 13A, mRNA (cDNA clone MGC:150707 IMAGE:40125246), complete cds.
BC127116 - Homo sapiens kinesin family member 13A, mRNA (cDNA clone MGC:150708 IMAGE:40125251), complete cds.
BC001730 - Homo sapiens cDNA clone IMAGE:3353875, containing frame-shift errors.
BC023613 - Homo sapiens cDNA clone IMAGE:4646849, containing frame-shift errors.
BC062673 - Homo sapiens kinesin family member 13A, mRNA (cDNA clone IMAGE:6654466), with apparent retained intron.
AK130742 - Homo sapiens cDNA FLJ27232 fis, clone SYN06360.
JD204951 - Sequence 185975 from Patent EP1572962.
JD486786 - Sequence 467810 from Patent EP1572962.
JD404219 - Sequence 385243 from Patent EP1572962.
AK025303 - Homo sapiens cDNA: FLJ21650 fis, clone COL08516.
AK225214 - Homo sapiens mRNA for kinesin family member 13A variant, clone: COL08516.
JD336425 - Sequence 317449 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H1H9 (Reactome details) participates in the following event(s):

R-HSA-390470 Association of CCT/TriC with other substrates during biosynthesis (unknown chaperone)
R-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis
R-HSA-390466 Chaperonin-mediated protein folding
R-HSA-391251 Protein folding
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A0JP21, A0JP22, ENST00000259711.1, ENST00000259711.10, ENST00000259711.2, ENST00000259711.3, ENST00000259711.4, ENST00000259711.5, ENST00000259711.6, ENST00000259711.7, ENST00000259711.8, ENST00000259711.9, KI13A_HUMAN, NM_022113, Q5THQ2, Q5THQ3, Q9H193, Q9H194, Q9H1H8, Q9H1H9, RBKIN, uc317ghm.1
UCSC ID: ENST00000259711.11_7
RefSeq Accession: NM_022113
Protein: Q9H1H9 (aka KI13A_HUMAN or K13A_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.