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KIF1A

Basics

Aliases:
This biomarker is also known as:
  • Spastic Paraplegia 30 (Autosomal Recessive),
  • Microtubule-Based Motor KIF1A,
  • HUnc-104,
  • Tmp_locus_27,
  • Kinesin Family Member 1A,
  • UNC104,
  • MRD9,
  • HSN2C,
  • Axonal Transporter Of Synaptic Vesicles,
  • Kinesin, Heavy Chain, Member 1A, Homolog Of Mouse,
  • Kinesin-Like Protein KIF1A,
  • Unc-104- And KIF1A-Related Protein,
  • Axonal Transport Of Synaptic Vesicles,
  • C2orf20,
  • Chromosome 2 Open Reading Frame 20,
  • ATSV,
  • SPG30,

Description…

From NCBI Entrez Gene: The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]

Attributes

QA State: Curated
Type: Gene
Short Name:
HGNC Name: KIF1A

Datasets

There are no datasets associated with this biomarker.

Organs

The following organs have data associated with this biomarker…

Head & neck, NOS

Attributes

Phase: One
QA State: Curated

Overview

No additional data available.

Performance Comment

KIF1A is one of eight genes on a panel of differentially methylated genes from normal and OSCC clinical samples from patients with heterogenous risk profiles chosen for further validation.  The eight genes are: HOXA9, NID2, GATA4, KIF1A, EDNRB, MCAM, DCC, and CALCA.

Studies

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

Biomuta

Mutation Statistics

Gene Name: KIF1A
UniProt Accession #: Q12756
Mutated Sites Count: 445
Associated Pubmed ID Count 21
CancerDO Count 25
Affected Protein Function Sites Count: 5

View in BioMuta