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

Gene ID: 3800, updated on 13-Mar-2020

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
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
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (148875227..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 ribosomal protein S20 pseudogene 13 Neighboring gene KIF5C antisense RNA 1 Neighboring gene uncharacterized LOC101928553 Neighboring gene USP8 pseudogene 2 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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

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 
cytoskeleton-dependent intracellular transport 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
 
cell IEA
Inferred from Electronic Annotation
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
 

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
    5005..156537
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004522.3NP_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, ENST00000435030.6
    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_111932.2 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 Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    148875227..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.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003571033.2 Reference GRCh38.p13 ALT_REF_LOCI_1

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