KIF1A kinesin family member 1A [Homo sapiens] - Gene

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Summary

Official Symbol: KIF1Aprovided by HGNC
Official Full Name: kinesin family member 1Aprovided by HGNC
Primary source: HGNC:888
See related: Ensembl:ENSG00000130294; HPRD:03156; MIM:601255; Vega:OTTHUMG00000151940
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: ATSV; MRD9; HSN2C; SPG30; UNC104; C2orf20; FLJ30229; MGC133285; MGC133286; DKFZp686I2094
Summary: 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]

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Genomic context

Location :: 2q37.3

Sequence :: Chromosome: 2; NC_000002.11 (241653184..241759624, complement)

See KIF1A in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The authors find that Arl8B is required for kinesin-1 recruitment to Salmonella-containing vacuoles, migration of the vacuoles to the cell periphery 24 h after infection and for cell-to-cell transfer of bacteria to neighbouring cells.
Title: Salmonella exploits Arl8B-directed kinesin activity to promote endosome tubulation and cell-to-cell transfer.
Mutations in KIF1A are a rare cause of hereditary sensory and autonomic neuropathy type 2.
Title: KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
A mutation in KIF1A is associated with a pure form of hereditary spastic paraparesis. (HSP) cases in a single inbred family.
Title: Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
Promoter hypermethylation of KIF1A and EDNRB is a frequent event in primary HNSCC, and these genes are preferentially methylated in salivary rinses from HNSCC patients.
Title: KIF1A and EDNRB are differentially methylated in primary HNSCC and salivary rinses.
cryo-electron microscopy structures of the monomeric kinesin KIF1A-microtubule complex in two nucleotide states at about 10 A resolution, sufficient to reveal the secondary structure
Title: High-resolution cryo-EM maps show the nucleotide binding pocket of KIF1A in open and closed conformations.
KIF1A mediates neuronal transport at a high velocity and processivity in vivo
Title: Characterization of the movement of the kinesin motor KIF1A in living cultured neurons.
Results suggest that the intramolecular FHA-CC2 interaction negatively regulates KIF1A activity by inhibiting MT binding and dimerization of KIF1A, and point to a novel role of the FHA domain in the regulation of kinesin motors.
Title: An intramolecular interaction between the FHA domain and a coiled coil negatively regulates the kinesin motor KIF1A.

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
NP_004312.2	NP_044527.1	UL56	BIND	PubMed	UL56 interacts with KIF1A.
Q12756	P10275	AR	HPRD	PubMed
Q12756	P03372	ESR1	HPRD	PubMed
Q12756	Q9Y2X7	GIT1	HPRD	PubMed
Q12756	Q12756	KIF1A	HPRD	PubMed
Q12756	P37231	PPARG	HPRD	PubMed
Q12756	P19793	RXRA	HPRD	PubMed
BioGRID:107029	BioGRID:106862	AR	BioGRID	PubMed	Two-hybrid
BioGRID:107029	BioGRID:108403	ESR1	BioGRID	PubMed	Two-hybrid
BioGRID:107029	BioGRID:111465	MED1	BioGRID	PubMed	Two-hybrid
BioGRID:107029	BioGRID:111464	PPARG	BioGRID	PubMed	Two-hybrid
BioGRID:107029	BioGRID:112168	RXRA	BioGRID	PubMed	Two-hybrid
BioGRID:107029	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
microtubule motor activity	IEA Inferred from Electronic Annotation more info
motor activity	TAS Traceable Author Statement more info	PubMed
nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
anterograde axon cargo transport	TAS Traceable Author Statement more info	PubMed
cell death	IEA Inferred from Electronic Annotation more info
microtubule-based movement	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoskeleton	IEA Inferred from Electronic Annotation more info
microtubule	IEA Inferred from Electronic Annotation more info
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: kinesin-like protein KIF1A

Names: kinesin-like protein KIF1A; tmp_locus_27; microtubule-based motor KIF1A; unc-104- and KIF1A-related protein; axonal transport of synaptic vesicles; axonal transporter of synaptic vesicles; spastic paraplegia 30 (autosomal recessive); kinesin, heavy chain, member 1A, homolog of mouse

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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

NG_029724.1 RefSeqGene

Range

4900..111444

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001244008.1 → NP_001230937.1 kinesin-like protein KIF1A isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB290172, AC011298, AW246876, BC111799

UniProtKB/TrEMBL

B0I1S5

UniProtKB/TrEMBL

F5H045

UniProtKB/Swiss-Prot

Q12756

Conserved Domains (5) summary

cd00060
Location:501 – 605
Blast Score: 152

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:4 – 361
Blast Score: 1560

KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins. KIF1A (Unc104) transports synaptic vesicles to the nerve terminal, KIF1B has been implicated in transport of mitochondria. Both proteins are expressed in neurons. This catalytic (head) domain has ATPase activity ...

cd01233
Location:1676 – 1775
Blast Score: 433

Unc104; Unc-104 pleckstrin homology (PH) domain

pfam12423
Location:814 – 861
Blast Score: 138

KIF1B; Kinesin protein 1B

pfam12473
Location:1250 – 1398
Blast Score: 467

DUF3694; Kinesin protein
NM_004321.6 → NP_004312.2 kinesin-like protein KIF1A isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two alternate in-frame exons compared to variant 1. Isoform 2 is shorter compared to isoform 1.

Source sequence(s)

AB621817, AC011298, AK054791, AW246876, BC111799

Consensus CDS

CCDS46561.1

UniProtKB/TrEMBL

B0I1S5

UniProtKB/Swiss-Prot

Q12756

Related

ENSP00000322791, OTTHUMP00000200839, ENST00000320389, OTTHUMT00000324536

Conserved Domains (5) summary

cd00060
Location:492 – 596
Blast Score: 151

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:4 – 361
Blast Score: 1558

KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins. KIF1A (Unc104) transports synaptic vesicles to the nerve terminal, KIF1B has been implicated in transport of mitochondria. Both proteins are expressed in neurons. This catalytic (head) domain has ATPase activity ...

cd01233
Location:1575 – 1674
Blast Score: 431

Unc104; Unc-104 pleckstrin homology (PH) domain

pfam12423
Location:805 – 852
Blast Score: 136

KIF1B; Kinesin protein 1B

pfam12473
Location:1149 – 1297
Blast Score: 465

DUF3694; Kinesin protein

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

241653184..241759624, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

233412724..233497777, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC011298.7	AAX93238.1
		AAX93239.1
genomic	AC112784.5 (32471..45049)	None
genomic	CH471063.1	EAW71214.1
		EAW71215.1
		EAW71216.1
		EAW71217.1
mRNA	AB209138.1	BAD92375.1
mRNA	AB210029.1	BAE06111.1
mRNA	AB290172.1	BAG06726.1
mRNA	AB621817.1	BAK64153.1
mRNA	AF004425.1	AAD02917.1
mRNA	AF038173.1	AAB97363.1
mRNA	AF052089.1	None
mRNA	AI815863.1	None
mRNA	AI878864.1	None
mRNA	AK054791.1	None
mRNA	AK130880.1	None
mRNA	AK307119.1	None
mRNA	AL706949.1	None
mRNA	AW246876.1	None
mRNA	BC009491.2	None
mRNA	BC021199.2	None
mRNA	BC064906.1	AAH64906.1
mRNA	BC111780.1	AAI11781.1
mRNA	BC111799.1	AAI11800.1
mRNA	BF879579.1	None
mRNA	BF946744.1	None
mRNA	BQ924476.1	None
mRNA	BU732893.1	None
mRNA	BX537556.1	CAH56161.1
mRNA	L79946.1	AAB04640.1
mRNA	U37194.1	AAA80352.1