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

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; AllianceGenome:HGNC:6325
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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 2q23.1-q23.2

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (148875227..149026759)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (149325585..149477131)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (149632796..149883273)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KIF5C deficiency causes abnormal cortical neuronal migration, dendritic branching, and spine morphology in mice.
Title: KIF5C deficiency causes abnormal cortical neuronal migration, dendritic branching, and spine morphology in mice.
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy.
Title: Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy.
Reduced miR-203 predicts metastasis and poor survival in esophageal carcinoma.
Title: Reduced miR-203 predicts metastasis and poor survival in esophageal carcinoma.
Deletion of the Pseudorabies Virus gE/gI-US9p complex disrupts kinesin KIF1A and KIF5C recruitment during egress, and alters the properties of microtubule-dependent transport in vitro.
Title: Deletion of the Pseudorabies Virus gE/gI-US9p complex disrupts kinesin KIF1A and KIF5C recruitment during egress, and alters the properties of microtubule-dependent transport in vitro.
The adaptor proteins HAP1a and GRIP1 collaborate to activate the kinesin-1 isoform KIF5C.
Title: The adaptor proteins HAP1a and GRIP1 collaborate to activate the kinesin-1 isoform KIF5C.
Findings point to a role for Kinesin-2 in the long-range movement of RAB5 endosomes during interphase. At the onset of mitosis, Kinesin-2 mediated transport controls timing of nuclear envelope breakdown and localization of RAB5 endosomes at spindle.
Title: Kinesin-2 Controls the Motility of RAB5 Endosomes and Their Association with the Spindle in Mitosis.
KIF5C mutations are associated with a neurodevelopmental disorder characterized by infantile onset epilepsy, and subtle but recognizable types of brain malformations.
Title: Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.
Study found that in peripheral blood mononuclear cells the median expression of KIFC3, KIF1B, and KIF5C was much lower than the expression of dynactin subunits DCTN1 and DCTN3, in both sporadic amyotrophic lateral sclerosis and healthy cases
Title: Alteration of Motor Protein Expression Involved in Bidirectional Transport in Peripheral Blood Mononuclear Cells of Patients with Amyotrophic Lateral Sclerosis.
Genetic association of KIF4A and KIF5C mutations in intellectual disability and synaptic function.
Title: Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Complex cortical dysplasia with other brain malformations 2 MedGen: C3809013 OMIM: 615282 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH11753 (e-PCR)
- UniSTS:20523

STS-M62096 (e-PCR)
- UniSTS:46418

SHGC-30990 (e-PCR)
- UniSTS:73571

NoName (e-PCR)
- UniSTS:71815

D2S2503 (e-PCR)
- UniSTS:8384

D2S1809 (e-PCR)
- UniSTS:4297

WI-15722 (e-PCR)
- UniSTS:715

RH78450 (e-PCR)
- UniSTS:35284

D2S187E (e-PCR)
- UniSTS:147430

AFMa067ze1 (e-PCR)
- UniSTS:4841

G16419 (e-PCR)
- UniSTS:38911

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables apolipoprotein receptor binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule motor activity	TAS Traceable Author Statement more info	PubMed
enables plus-end-directed microtubule motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in anterograde axonal protein transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in anterograde dendritic transport of messenger ribonucleoprotein complex	IEA Inferred from Electronic Annotation more info
involved_in anterograde dendritic transport of neurotransmitter receptor complex	IBA Inferred from Biological aspect of Ancestor more info
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular mRNA localization	IEA Inferred from Electronic Annotation more info
involved_in mRNA transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in motor neuron axon guidance	IEA Inferred from Electronic Annotation more info
involved_in organelle organization	TAS Traceable Author Statement more info	PubMed
involved_in synaptic vesicle transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in axonal growth cone	ISS Inferred from Sequence or Structural Similarity more info
located_in ciliary rootlet	IEA Inferred from Electronic Annotation more info
located_in dendrite cytoplasm	IEA Inferred from Electronic Annotation more info
located_in distal axon	ISS Inferred from Sequence or Structural Similarity more info
part_of kinesin complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic cytosol	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: kinesin heavy chain isoform 5C; kinesin heavy chain

Names: kinesin heavy chain neuron-specific 2; kinesin-1; neuron-specific kinesin heavy chain 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

NG_042216.1 RefSeqGene

Range

5005..156537

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004522.3 → NP_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, O95079, Q2YDC5

UniProtKB/TrEMBL

A0A7I2V492

Related

ENSP00000393379.1, ENST00000435030.6

Conserved Domains (3) summary

COG1196
Location:460 → 801

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

PRK03918
Location:715 → 916

PRK03918; DNA double-strand break repair ATPase Rad50

cd01369
Location:6 → 327

KISc_KHC_KIF5; Kinesin motor domain, kinesin heavy chain (KHC) or KIF5-like subgroup

RNA

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

Related

ENST00000678636.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

148875227..149026759

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017004062.2 → XP_016859551.1 kinesin heavy chain isoform X1

UniProtKB/Swiss-Prot

O60282, O95079, Q2YDC5

UniProtKB/TrEMBL

A0A7I2V492

Conserved Domains (3) summary

COG1196
Location:460 → 801

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

PRK03918
Location:715 → 916

PRK03918; DNA double-strand break repair ATPase Rad50

cd01369
Location:6 → 327

KISc_KHC_KIF5; Kinesin motor domain, kinesin heavy chain (KHC) or KIF5-like subgroup
XM_011511157.3 → XP_011509459.1 kinesin heavy chain isoform X2

See identical proteins and their annotated locations for XP_011509459.1

UniProtKB/TrEMBL

Q57Z91

Related

ENSP00000504291.1, ENST00000679129.1

Conserved Domains (1) summary

cl22853
Location:7 → 95

Motor_domain; Myosin and Kinesin motor domain
XM_047444258.1 → XP_047300214.1 kinesin heavy chain isoform X2

Related

ENSP00000503401.1, ENST00000676677.1