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KIF1A kinesin family member 1A [ Homo sapiens (human) ]

Gene ID: 547, updated on 3-Jun-2018
Official Symbol
KIF1Aprovided by HGNC
Official Full Name
kinesin family member 1Aprovided by HGNC
Primary source
HGNC:HGNC:888
See related
Ensembl:ENSG00000130294 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
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]
Expression
Biased expression in brain (RPKM 88.6), adrenal (RPKM 8.2) and 1 other tissue See more
Orthologs
See KIF1A in Genome Data Viewer
Location:
2q37.3
Exon count:
50
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (240713764..240820308, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (241653181..241759725, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC285191 Neighboring gene aquaporin 12A Neighboring gene alanine--glyoxylate and serine--pyruvate aminotransferase Neighboring gene chromosome 2 open reading frame 54

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
capsid gag The ability of exogenously expressed FEZ1 binding to kinesin-1 to promote early HIV-1 infection, leading to the movement of HIV-1 CA core to the nucleus PubMed

Go to the HIV-1, Human Interaction Database

  • COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystem (from REACTOME)
    COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER is mediated in part by microtubule-directed COPI-coated vesicles (Letourneur et al, 1994; Shima et al, 1999; Spang et al, 1998; reviewed i...
  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Golgi-to-ER retrograde transport, organism-specific biosystem (from REACTOME)
    Golgi-to-ER retrograde transport, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER occurs through either COPI-coated vesicles or through a less well characterized RAB6-dependent route that makes use of tubular carriers (r...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Kinesins, organism-specific biosystem (from REACTOME)
    Kinesins, organism-specific biosystemKinesins are a superfamily of microtubule-based motor proteins that have diverse functions in transport of vesicles, organelles and chromosomes, and regulate microtubule dynamics. There are 14 famil...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ30229, MGC133285, MGC133286, DKFZp686I2094

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 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule binding IEA
Inferred from Electronic Annotation
more info
 
microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
motor activity TAS
Traceable Author Statement
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
anterograde axonal transport TAS
Traceable Author Statement
more info
PubMed 
anterograde neuronal dense core vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton-dependent intracellular transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interkinetic nuclear migration IEA
Inferred from Electronic Annotation
more info
 
microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein transport along microtubule IEA
Inferred from Electronic Annotation
more info
 
retrograde neuronal dense core vesicle transport ISS
Inferred from Sequence or Structural Similarity
more info
 
vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendrite IEA
Inferred from Electronic Annotation
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 
microtubule IEA
Inferred from Electronic Annotation
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
postsynapse IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
kinesin-like protein KIF1A
Names
axonal transporter of synaptic vesicles
kinesin, heavy chain, member 1A, homolog of mouse
microtubule-based motor KIF1A
unc-104- and KIF1A-related protein

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_029724.1 RefSeqGene

    Range
    4900..111444
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_367

mRNA and Protein(s)

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

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB290172, AC011298, AW246876, BC111799
    Consensus CDS
    CCDS58757.1
    UniProtKB/Swiss-Prot
    Q12756
    Related
    ENSP00000438388.1, ENST00000498729.7
    Conserved Domains (8) summary
    smart00129
    Location:5361
    KISc; Kinesin motor, catalytic domain. ATPase
    cd00060
    Location:501605
    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 ...
    cd01233
    Location:16721774
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    cd01365
    Location:4361
    KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
    pfam00169
    Location:16771770
    PH; PH domain
    pfam12423
    Location:814861
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:12971397
    DUF3694; Kinesin protein
    pfam16183
    Location:358524
    Kinesin_assoc; Kinesin-associated
  2. NM_001320705.1NP_001307634.1  kinesin-like protein KIF1A isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AB210029, AB290172, AC011298, AW246876, BC111780
    UniProtKB/Swiss-Prot
    Q12756
    Conserved Domains (8) summary
    smart00129
    Location:5361
    KISc; Kinesin motor, catalytic domain. ATPase
    cd00060
    Location:501605
    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 ...
    cd01233
    Location:15801682
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    cd01365
    Location:4361
    KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
    pfam00169
    Location:15851678
    PH; PH domain
    pfam12423
    Location:814860
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:12051305
    DUF3694; Kinesin protein
    pfam16183
    Location:358524
    Kinesin_assoc; Kinesin-associated
  3. NM_001330289.1NP_001317218.1  kinesin-like protein KIF1A isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains one exon and lacks one exon in the coding region compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AC011298, AC112784, AK054791, AW246876
    Conserved Domains (8) summary
    smart00129
    Location:5361
    KISc; Kinesin motor, catalytic domain. ATPase
    cd00060
    Location:501605
    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 ...
    cd01233
    Location:15891691
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    cd01365
    Location:4361
    KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
    pfam00169
    Location:15941687
    PH; PH domain
    pfam12423
    Location:814860
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:12051314
    DUF3694; Kinesin protein
    pfam16183
    Location:358524
    Kinesin_assoc; Kinesin-associated
  4. NM_001330290.1NP_001317219.1  kinesin-like protein KIF1A isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame splice site and lacks an exon in the coding region compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
    Source sequence(s)
    AC011298, AC112784, AK054791, AW246876
  5. NM_004321.7NP_004312.2  kinesin-like protein KIF1A isoform 2

    See identical proteins and their annotated locations for NP_004312.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons in the coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB290172, AC011298, AK054791, AW246876, BC111799
    Consensus CDS
    CCDS46561.1
    UniProtKB/Swiss-Prot
    Q12756
    Related
    ENSP00000322791.7, ENST00000320389.11
    Conserved Domains (8) summary
    smart00129
    Location:5361
    KISc; Kinesin motor, catalytic domain. ATPase
    cd00060
    Location:492596
    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 ...
    cd01233
    Location:15711673
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    cd01365
    Location:4361
    KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
    pfam00169
    Location:15761669
    PH; PH domain
    pfam12423
    Location:805851
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:11961296
    DUF3694; Kinesin protein
    pfam16183
    Location:358515
    Kinesin_assoc; Kinesin-associated

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
    240713764..240820308 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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