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KIF6 kinesin family member 6 [ Homo sapiens (human) ]

Gene ID: 221458, updated on 2-Oct-2018

Summary

Official Symbol
KIF6provided by HGNC
Official Full Name
kinesin family member 6provided by HGNC
Primary source
HGNC:HGNC:21202
See related
Ensembl:ENSG00000164627 MIM:613919; Vega:OTTHUMG00000014648
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
C6orf102; dJ137F1.4; dJ188D3.1; dJ1043E3.1
Summary
This gene encodes a member of a family of molecular motors which are involved in intracellular transport of protein complexes, membrane organelles, and messenger ribonucleic acid along microtubules. Kinesins function as homodimeric molecules with two N-terminal head domains that move along microtubules and two C-terminal tail domains that interact with the transported cargo, either directly or indirectly, through adapter molecules. This gene is ubiquitously expressed in coronary arteries and other vascular tissue. A naturally occurring mutation in this gene is associated with coronary heart disease. [provided by RefSeq, May 2017]
Expression
Biased expression in testis (RPKM 1.6), brain (RPKM 1.0) and 4 other tissues See more
Orthologs

Genomic context

See KIF6 in Genome Data Viewer
Location:
6p21.2
Exon count:
28
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (39329990..39725423, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (39302876..39693181, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375047 Neighboring gene potassium two pore domain channel subfamily K member 17 Neighboring gene uncharacterized LOC107986594 Neighboring gene ankyrin repeat domain 39 pseudogene Neighboring gene potassium two pore domain channel subfamily K member 16 Neighboring gene E2F transcription factor 4 pseudogene 1 Neighboring gene RNA, U1 small nuclear 54, pseudogene Neighboring gene dishevelled associated activator of morphogenesis 2 Neighboring gene uncharacterized LOC100505635 Neighboring gene molybdenum cofactor synthesis 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.
NHGRI GWA Catalog
Genome-wide association study of antibody response to smallpox vaccine.
NHGRI GWA Catalog
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

  • COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystem (from REACTOME)
    COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER is mediated in part by microtubule-directed COPI-coated vesicles (Letourneur et al, 1994; Shima et al, 1999; Spang et al, 1998; reviewed i...
  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Golgi-to-ER retrograde transport, organism-specific biosystem (from REACTOME)
    Golgi-to-ER retrograde transport, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER occurs through either COPI-coated vesicles or through a less well characterized RAB6-dependent route that makes use of tubular carriers (r...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Kinesins, organism-specific biosystem (from REACTOME)
    Kinesins, organism-specific biosystemKinesins are a superfamily of microtubule-based motor proteins that have diverse functions in transport of vesicles, organelles and chromosomes, and regulate microtubule dynamics. There are 14 famil...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC33317, DKFZp451I2418

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
kinesin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
male germ cell nucleus IEA
Inferred from Electronic Annotation
more info
 
microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_054928.1 RefSeqGene

    Range
    5002..400435
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001289020.2NP_001275949.1  kinesin-like protein KIF6 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AK123217, AK131471, AL136087, AL161439, BC143444, BX649045, DB080579
    Conserved Domains (2) summary
    cl22853
    Location:5343
    Motor_domain; Myosin and Kinesin motor domain
    pfam00225
    Location:11345
    Kinesin; Kinesin motor domain
  2. NM_001289021.2NP_001275950.1  kinesin-like protein KIF6 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
    Source sequence(s)
    AK123217, AL136087, AL161439, BC117307, BX649045, DB080579
    Conserved Domains (2) summary
    cl22853
    Location:5343
    Motor_domain; Myosin and Kinesin motor domain
    pfam00225
    Location:11345
    Kinesin; Kinesin motor domain
  3. NM_001289024.2NP_001275953.1  kinesin-like protein KIF6 isoform 4

    See identical proteins and their annotated locations for NP_001275953.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' terminal exon and initiates translation at a downstrean start codon, compared to variant 1. It encodes isoform 4, which has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AK123217, AL136087, BC022074, DA167995
    Consensus CDS
    CCDS75449.1
    UniProtKB/Swiss-Prot
    Q6ZMV9
    Related
    ENSP00000229913.5, OTTHUMP00000164050, ENST00000229913.9
    Conserved Domains (1) summary
    cl25732
    Location:25119
    SMC_N; RecF/RecN/SMC N terminal domain
  4. NM_001351503.1NP_001338432.1  kinesin-like protein KIF6 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks a portion of the 3' coding region, contains an alternate 3' terminal exon, and differs in the 3' UTR, compared to variant 1. It encodes isoform 6 which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL161439, BC043552, BX499296
    Conserved Domains (1) summary
    cl22853
    Location:584
    Motor_domain; Myosin and Kinesin motor domain
  5. NM_001351566.1NP_001338495.1  kinesin-like protein KIF6 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains alternate 5' and 3' terminal exons and initiates translation at a downstrean start codon, compared to variant 1. It encodes isoform 5, which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL136087, AL160161, BC098418
    Consensus CDS
    CCDS87392.1
    Related
    ENSP00000441435.2, ENST00000538893.5
    Conserved Domains (1) summary
    cl25732
    Location:25119
    SMC_N; RecF/RecN/SMC N terminal domain
  6. NM_145027.5NP_659464.3  kinesin-like protein KIF6 isoform 1

    See identical proteins and their annotated locations for NP_659464.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK123217, AK131471, AL136087, AL161439, AL832634, BX649045
    Consensus CDS
    CCDS4844.1
    UniProtKB/Swiss-Prot
    Q6ZMV9
    Related
    ENSP00000287152.7, OTTHUMP00000016348, ENST00000287152.11
    Conserved Domains (2) summary
    cl22853
    Location:5343
    Motor_domain; Myosin and Kinesin motor domain
    pfam00225
    Location:11345
    Kinesin; Kinesin motor domain

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_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    39329990..39725423 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514359.3XP_011512661.1  kinesin-like protein KIF6 isoform X4

    UniProtKB/Swiss-Prot
    Q6ZMV9
    Conserved Domains (2) summary
    cl22853
    Location:5343
    Motor_domain; Myosin and Kinesin motor domain
    pfam00225
    Location:11345
    Kinesin; Kinesin motor domain
  2. XM_011514358.3XP_011512660.1  kinesin-like protein KIF6 isoform X3

    Conserved Domains (2) summary
    cl22853
    Location:5343
    Motor_domain; Myosin and Kinesin motor domain
    pfam00225
    Location:11345
    Kinesin; Kinesin motor domain
  3. XM_017010427.1XP_016865916.1  kinesin-like protein KIF6 isoform X5

  4. XM_011514357.3XP_011512659.1  kinesin-like protein KIF6 isoform X2

    Conserved Domains (2) summary
    cl22853
    Location:5343
    Motor_domain; Myosin and Kinesin motor domain
    pfam00225
    Location:11345
    Kinesin; Kinesin motor domain
  5. XM_005248904.4XP_005248961.1  kinesin-like protein KIF6 isoform X1

    Conserved Domains (2) summary
    cl22853
    Location:5343
    Motor_domain; Myosin and Kinesin motor domain
    pfam00225
    Location:11345
    Kinesin; Kinesin motor domain
  6. XM_017010428.1XP_016865917.1  kinesin-like protein KIF6 isoform X6

  7. XM_011514361.2XP_011512663.1  kinesin-like protein KIF6 isoform X7

    Conserved Domains (2) summary
    cl22853
    Location:5343
    Motor_domain; Myosin and Kinesin motor domain
    pfam00225
    Location:11345
    Kinesin; Kinesin motor domain

RNA

  1. XR_001743238.1 RNA Sequence

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