Display Settings:

Format

Send to:

Choose Destination

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

Gene ID: 547, updated on 19-Sep-2014
Official Symbol
KIF1Aprovided by HGNC
Official Full Name
kinesin family member 1Aprovided by HGNC
Primary source
HGNC: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
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]
See KIF1A in Epigenomics, MapViewer
Location:
2q37.3
Exon count:
51
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 flocculation protein FLO11-like Neighboring gene alanine-glyoxylate aminotransferase Neighboring gene chromosome 2 open reading frame 54

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2013-08-08)

ISCA Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2013-08-08)

ISCA Genome Curation Page
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
 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
microtubule binding IEA
Inferred from Electronic Annotation
more info
 
motor activity TAS
Traceable Author Statement
more info
PubMed 
plus-end-directed microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
ATP catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
anterograde axon cargo transport TAS
Traceable Author Statement
more info
PubMed 
cell death IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton-dependent intracellular transport IBA
Inferred from Biological aspect of Ancestor
more info
 
metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
metabolic process TAS
Traceable Author Statement
more info
PubMed 
microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
 
vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
kinesin complex IBA
Inferred from Biological aspect of Ancestor
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
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 transporter of synaptic vesicles
kinesin, heavy chain, member 1A, homolog of mouse

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 

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

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 longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB290172, AC011298, AW246876, BC111799
    Consensus CDS
    CCDS58757.1
    UniProtKB/Swiss-Prot
    Q12756
    Related
    ENSP00000438388, ENST00000498729
    Conserved Domains (6) summary
    COG5059
    Location:5366
    KIP1; Kinesin-like protein [Cytoskeleton]
    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 ...
    cd01365
    Location:4361
    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:16641774
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    pfam12423
    Location:814861
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:12501398
    DUF3694; Kinesin protein
  2. NM_004321.6NP_004312.2  kinesin-like protein KIF1A isoform 2

    See proteins identical to NP_004312.2

    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
    G1UI30
    UniProtKB/Swiss-Prot
    Q12756
    Conserved Domains (6) summary
    COG5059
    Location:5366
    KIP1; Kinesin-like protein [Cytoskeleton]
    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 ...
    cd01365
    Location:4361
    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:15631673
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    pfam12423
    Location:805852
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:11491297
    DUF3694; Kinesin protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

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

mRNA and Protein(s)

  1. XM_005247028.1XP_005247085.1  

    See proteins identical to XP_005247085.1

    UniProtKB/Swiss-Prot
    Q12756
    Related
    ENSP00000322791, OTTHUMP00000200839, ENST00000320389, OTTHUMT00000324536
    Conserved Domains (6) summary
    COG5059
    Location:5366
    KIP1; Kinesin-like protein [Cytoskeleton]
    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 ...
    cd01365
    Location:4361
    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:15631673
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    pfam12423
    Location:805852
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:11491297
    DUF3694; Kinesin protein
  2. XM_005247027.1XP_005247084.1  

    Conserved Domains (6) summary
    COG5059
    Location:5366
    KIP1; Kinesin-like protein [Cytoskeleton]
    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 ...
    cd01365
    Location:4361
    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:15711681
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    pfam12423
    Location:805852
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:11491305
    DUF3694; Kinesin protein
  3. XM_006712605.1XP_006712668.1  

    Conserved Domains (6) summary
    COG5059
    Location:5366
    KIP1; Kinesin-like protein [Cytoskeleton]
    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 ...
    cd01365
    Location:4361
    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:16551765
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    pfam12423
    Location:805852
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:12411389
    DUF3694; Kinesin protein
  4. XM_005247024.1XP_005247081.1  

    Conserved Domains (6) summary
    COG5059
    Location:5366
    KIP1; Kinesin-like protein [Cytoskeleton]
    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 ...
    cd01365
    Location:4361
    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:16641774
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    pfam12423
    Location:805852
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:12411398
    DUF3694; Kinesin protein
  5. XM_005247026.1XP_005247083.1  

    Conserved Domains (6) summary
    COG5059
    Location:5366
    KIP1; Kinesin-like protein [Cytoskeleton]
    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 ...
    cd01365
    Location:4361
    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:15721682
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    pfam12423
    Location:814861
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:11581306
    DUF3694; Kinesin protein
  6. XM_005247023.1XP_005247080.1  

    UniProtKB/Swiss-Prot
    Q12756
    Conserved Domains (6) summary
    COG5059
    Location:5366
    KIP1; Kinesin-like protein [Cytoskeleton]
    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 ...
    cd01365
    Location:4361
    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:16721782
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    pfam12423
    Location:814861
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:12501406
    DUF3694; Kinesin protein
  7. XM_005247022.1XP_005247079.1  

    Conserved Domains (6) summary
    COG5059
    Location:5366
    KIP1; Kinesin-like protein [Cytoskeleton]
    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 ...
    cd01365
    Location:4361
    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:16731783
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    pfam12423
    Location:814861
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:12501407
    DUF3694; Kinesin protein
  8. XM_006712604.1XP_006712667.1  

    Conserved Domains (6) summary
    COG5059
    Location:5366
    KIP1; Kinesin-like protein [Cytoskeleton]
    cd00060
    Location:526630
    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:4361
    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:16061716
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    pfam12423
    Location:839886
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:11831340
    DUF3694; Kinesin protein
  9. XM_006712603.1XP_006712666.1  

    Conserved Domains (6) summary
    COG5059
    Location:5366
    KIP1; Kinesin-like protein [Cytoskeleton]
    cd00060
    Location:526630
    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:4361
    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:16891799
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    pfam12423
    Location:839886
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:12751423
    DUF3694; Kinesin protein
  10. XM_006712602.1XP_006712665.1  

    Conserved Domains (6) summary
    COG5059
    Location:5366
    KIP1; Kinesin-like protein [Cytoskeleton]
    cd00060
    Location:526630
    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:4361
    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:16971807
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    pfam12423
    Location:839886
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:12751431
    DUF3694; Kinesin protein
  11. XM_006712601.1XP_006712664.1  

    Conserved Domains (6) summary
    COG5059
    Location:5366
    KIP1; Kinesin-like protein [Cytoskeleton]
    cd00060
    Location:526630
    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:4361
    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:16981808
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    pfam12423
    Location:839886
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:12751432
    DUF3694; Kinesin protein

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    233412721..233497777
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    241659240..241765801
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)