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KIF5C kinesin family member 5C [ Homo sapiens (human) ]

Gene ID: 3800, updated on 2-Oct-2018

Summary

Official Symbol
KIF5Cprovided by HGNC
Official Full Name
kinesin family member 5Cprovided by HGNC
Primary source
HGNC:HGNC:6325
See related
Ensembl:ENSG00000168280 MIM:604593; Vega:OTTHUMG00000153779
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
KINN; NKHC; NKHC2; CDCBM2; NKHC-2
Summary
The protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]
Expression
Biased expression in brain (RPKM 82.3), testis (RPKM 17.1) and 2 other tissues See more
Orthologs

Genomic context

See KIF5C in Genome Data Viewer
Location:
2q23.1-q23.2
Exon count:
28
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (148875223..149026759)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (149632792..149686924) , (149793796..149883273)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 8 pseudogene Neighboring gene uncharacterized LOC112267889 Neighboring gene ribosomal protein S20 pseudogene 13 Neighboring gene uncharacterized LOC101928553 Neighboring gene LY6/PLAUR domain containing 6B Neighboring gene thioredoxin pseudogene 5 Neighboring gene uncharacterized LOC105373678 Neighboring gene uncharacterized LOC105373677

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

Associated conditions

Description Tests
Cortical dysplasia, complex, with other brain malformations 2
MedGen: C3809013 OMIM: 615282 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
NHGRI GWA Catalog

Pathways from BioSystems

  • Dopaminergic synapse, organism-specific biosystem (from KEGG)
    Dopaminergic synapse, organism-specific biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
  • Dopaminergic synapse, conserved biosystem (from KEGG)
    Dopaminergic synapse, conserved biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Insulin processing, organism-specific biosystem (from REACTOME)
    Insulin processing, organism-specific biosystemThe generation of insulin-containing secretory granules from proinsulin in the lumen of the endoplasmic reticulum (ER) can be described in 4 steps: formation of intramolecular disulfide bonds, format...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
    Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44735, KIAA0531, MGC111478

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 
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
anterograde axonal protein transport ISS
Inferred from Sequence or Structural Similarity
more info
 
anterograde dendritic transport of neurotransmitter receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mRNA transport ISS
Inferred from Sequence or Structural Similarity
more info
 
microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
motor neuron axon guidance IEA
Inferred from Electronic Annotation
more info
 
organelle organization TAS
Traceable Author Statement
more info
PubMed 
synaptic vesicle transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
axonal growth cone ISS
Inferred from Sequence or Structural Similarity
more info
 
ciliary rootlet IEA
Inferred from Electronic Annotation
more info
 
dendrite cytoplasm IEA
Inferred from Electronic Annotation
more info
 
distal axon ISS
Inferred from Sequence or Structural Similarity
more info
 
kinesin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
kinesin heavy chain isoform 5C; kinesin heavy chain
Names
kinesin heavy chain neuron-specific 2

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_042216.1 RefSeqGene

    Range
    5001..156537
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004522.2NP_004513.1  kinesin heavy chain isoform 5C

    See identical proteins and their annotated locations for NP_004513.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein.
    Source sequence(s)
    AB011103, AB209191, AW162840, DA085551
    Consensus CDS
    CCDS74586.1
    UniProtKB/Swiss-Prot
    O60282
    UniProtKB/TrEMBL
    Q59GB8
    Related
    ENSP00000393379.1, OTTHUMP00000204430, ENST00000435030.5, OTTHUMT00000332562
    Conserved Domains (2) summary
    cd01369
    Location:6327
    KISc_KHC_KIF5; Kinesin motor domain, kinesin heavy chain (KHC) or KIF5-like subgroup
    cl25732
    Location:460801
    SMC_N; RecF/RecN/SMC N terminal domain

RNA

  1. NR_111932.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several 5' exons but contains an alternate 5' terminal exon, and it also contains an additional exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA602178, AB209191, BC110287, DA501487, HY003338

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_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    148875223..149026759
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004062.1XP_016859551.1  kinesin heavy chain isoform X1

    UniProtKB/Swiss-Prot
    O60282
    Conserved Domains (2) summary
    cd01369
    Location:6327
    KISc_KHC_KIF5; Kinesin motor domain, kinesin heavy chain (KHC) or KIF5-like subgroup
    cl25732
    Location:460801
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_011511157.2XP_011509459.1  kinesin heavy chain isoform X2

    See identical proteins and their annotated locations for XP_011509459.1

    UniProtKB/Swiss-Prot
    O60282
    Conserved Domains (1) summary
    cl22853
    Location:795
    Motor_domain; Myosin and Kinesin motor domain

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NW_003571033.2 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    3214..96131
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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