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KIF1C kinesin family member 1C [ Homo sapiens (human) ]

Gene ID: 10749, updated on 3-Jun-2018
Official Symbol
KIF1Cprovided by HGNC
Official Full Name
kinesin family member 1Cprovided by HGNC
Primary source
HGNC:HGNC:6317
See related
Ensembl:ENSG00000129250 MIM:603060; Vega:OTTHUMG00000099451
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
SAX2; LTXS1; SATX2; SPAX2; SPG58
Summary
The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014]
Expression
Ubiquitous expression in heart (RPKM 51.8), fat (RPKM 28.5) and 24 other tissues See more
Orthologs
See KIF1C in Genome Data Viewer
Location:
17p13.2
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (4997948..5028399)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4901243..4931694)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene calmodulin binding transcription activator 2 Neighboring gene microRNA 6865 Neighboring gene uncharacterized LOC101927979 Neighboring gene inhibitor of CDK, cyclin A1 interacting protein 1 Neighboring gene uncharacterized LOC102724009 Neighboring gene uncharacterized LOC105371502 Neighboring gene uncharacterized LOC105371501 Neighboring gene solute carrier family 52 member 1 Neighboring gene zinc finger with KRAB and SCAN domains 1 pseudogene

  • 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?

Associated conditions

Description Tests
Ataxia, spastic, 2, autosomal recessive
MedGen: C1969796 OMIM: 611302 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
capsid gag The ability of exogenously expressed FEZ1 binding to kinesin-1 to promote early HIV-1 infection, leading to the movement of HIV-1 CA core to the nucleus PubMed

Go to the HIV-1, Human Interaction Database

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0706

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent microtubule motor activity, plus-end-directed IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA binding HDA PubMed 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule binding IEA
Inferred from Electronic Annotation
more info
 
microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
motor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
anterograde neuronal dense core vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton-dependent intracellular transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retrograde neuronal dense core vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
 
retrograde vesicle-mediated transport, Golgi to ER IEA
Inferred from Electronic Annotation
more info
 
vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
kinesin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Preferred Names
kinesin-like protein KIF1C
Names
spastic ataxia 2 (autosomal recessive)

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_034137.1 RefSeqGene

    Range
    5001..35452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006612.5NP_006603.2  kinesin-like protein KIF1C

    See identical proteins and their annotated locations for NP_006603.2

    Status: REVIEWED

    Source sequence(s)
    AC012146, BC034993, BC040307, BM458656
    Consensus CDS
    CCDS11065.1
    UniProtKB/Swiss-Prot
    O43896
    Related
    ENSP00000320821.5, OTTHUMP00000125303, ENST00000320785.9, OTTHUMT00000216916
    Conserved Domains (3) summary
    cd00060
    Location:499599
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    cd01365
    Location:4355
    KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
    pfam16183
    Location:352522
    Kinesin_assoc; Kinesin-associated

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_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    4997948..5028399
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256424.2XP_005256481.1  kinesin-like protein KIF1C isoform X1

    See identical proteins and their annotated locations for XP_005256481.1

    UniProtKB/Swiss-Prot
    O43896
    Conserved Domains (3) summary
    cd00060
    Location:499599
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    cd01365
    Location:4355
    KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
    pfam16183
    Location:352522
    Kinesin_assoc; Kinesin-associated
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