KIF1A

Protein identityUniProt · HPA

UniProt accession

Q12756

Gene

KIF1A

Ensembl

ENSG00000130294

Chromosome

2

Canonical length

1690 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Centriolar satellite,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1690 residues, UniProt reviewed canonical sequence.

>Q12756|KIF1A
     1  MAGASVKVAV RVRPFNSREM SRDSKCIIQM SGSTTTIVNP KQPKETPKSF SFDYSYWSHT
    61  SPEDINYASQ KQVYRDIGEE MLQHAFEGYN VCIFAYGQTG AGKSYTMMGK QEKDQQGIIP
   121  QLCEDLFSRI NDTTNDNMSY SVEVSYMEIY CERVRDLLNP KNKGNLRVRE HPLLGPYVED
   181  LSKLAVTSYN DIQDLMDSGN KARTVAATNM NETSSRSHAV FNIIFTQKRH DAETNITTEK
   241  VSKISLVDLA GSERADSTGA KGTRLKEGAN INKSLTTLGK VISALAEMDS GPNKNKKKKK
   301  TDFIPYRDSV LTWLLRENLG GNSRTAMVAA LSPADINYDE TLSTLRYADR AKQIRCNAVI
   361  NEDPNNKLIR ELKDEVTRLR DLLYAQGLGD ITDMTNALVG MSPSSSLSAL SSRAASVSSL
   421  HERILFAPGS EEAIERLKET EKIIAELNET WEEKLRRTEA IRMEREALLA EMGVAMREDG
   481  GTLGVFSPKK TPHLVNLNED PLMSECLLYY IKDGITRVGR EDGERRQDIV LSGHFIKEEH
   541  CVFRSDSRGG SEAVVTLEPC EGADTYVNGK KVTEPSILRS GNRIIMGKSH VFRFNHPEQA
   601  RQERERTPCA ETPAEPVDWA FAQRELLEKQ GIDMKQEMEQ RLQELEDQYR REREEATYLL
   661  EQQRLDYESK LEALQKQMDS RYYPEVNEEE EEPEDEVQWT ERECELALWA FRKWKWYQFT
   721  SLRDLLWGNA IFLKEANAIS VELKKKVQFQ FVLLTDTLYS PLPPDLLPPE AAKDRETRPF
   781  PRTIVAVEVQ DQKNGATHYW TLEKLRQRLD LMREMYDRAA EVPSSVIEDC DNVVTGGDPF
   841  YDRFPWFRLV GRAFVYLSNL LYPVPLVHRV AIVSEKGEVK GFLRVAVQAI SADEEAPDYG
   901  SGVRQSGTAK ISFDDQHFEK FQSESCPVVG MSRSGTSQEE LRIVEGQGQG ADVGPSADEV
   961  NNNTCSAVPP EGLLLDSSEK AALDGPLDAA LDHLRLGNTF TFRVTVLQAS SISAEYADIF
  1021  CQFNFIHRHD EAFSTEPLKN TGRGPPLGFY HVQNIAVEVT KSFIEYIKSQ PIVFEVFGHY
  1081  QQHPFPPLCK DVLSPLRPSR RHFPRVMPLS KPVPATKLST LTRPCPGPCH CKYDLLVYFE
  1141  ICELEANGDY IPAVVDHRGG MPCMGTFLLH QGIQRRITVT LLHETGSHIR WKEVRELVVG
  1201  RIRNTPETDE SLIDPNILSL NILSSGYIHP AQDDRTFYQF EAAWDSSMHN SLLLNRVTPY
  1261  REKIYMTLSA YIEMENCTQP AVVTKDFCMV FYSRDAKLPA SRSIRNLFGS GSLRASESNR
  1321  VTGVYELSLC HVADAGSPGM QRRRRRVLDT SVAYVRGEEN LAGWRPRSDS LILDHQWELE
  1381  KLSLLQEVEK TRHYLLLREK LETAQRPVPE ALSPAFSEDS ESHGSSSASS PLSAEGRPSP
  1441  LEAPNERQRE LAVKCLRLLT HTFNREYTHS HVCVSASESK LSEMSVTLLR DPSMSPLGVA
  1501  TLTPSSTCPS LVEGRYGATD LRTPQPCSRP ASPEPELLPE ADSKKLPSPA RATETDKEPQ
  1561  RLLVPDIQEI RVSPIVSKKG YLHFLEPHTS GWARRFVVVR RPYAYMYNSD KDTVERFVLN
  1621  LATAQVEYSE DQQAMLKTPN TFAVCTEHRG ILLQAASDKD MHDWLYAFNP LLAGTIRSKL
  1681  SRRRSAQMRV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KIF1A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.36

Highest tissue expression

122 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KIF1A.

Disease | AllUniProt

Conditions KIF1A is implicated in, by any mechanism.

• Spastic paraplegia 30A, autosomal dominant (SPG30A) MIM:610357
• Spastic paraplegia 30B, autosomal recessive (SPG30B) MIM:620607
• Neuropathy, hereditary sensory, 2C (HSN2C) MIM:614213
• NESCAV syndrome (NESCAVS) MIM:614255

Disease | GeneticClinVar

207 pathogenic / likely-pathogenic of 3,455 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hereditary spastic paraplegia 30
• Intellectual disability, autosomal dominant 9
• Neuropathy, hereditary sensory, type 2C
• Inborn genetic diseases
• KIF1A-related disorder

Disease | ImmuneIEDB

Conditions an epitope on KIF1A was assayed in.

• type 1 diabetes mellitus T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.14

gnomAD pLI

1

gnomAD missense Z

5.16

DepMap mean gene effect

-0.09

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anterograde axonal transport
• anterograde neuronal dense core vesicle transport
• dense core granule cytoskeletal transport
• regulation of dendritic spine development
• regulation of dendritic spine morphogenesis
• retrograde neuronal dense core vesicle transport
• vesicle-mediated transport

Molecular functions

• ATP binding
• ATP hydrolysis activity
• cytoskeletal motor activity
• identical protein binding
• metal ion binding
• microtubule binding
• plus-end-directed microtubule motor activity

Cellular components

• axon
• axon cytoplasm
• cytoplasm
• dendrite
• kinesin complex
• microtubule
• neuronal dense core vesicle
• neuronal dense core vesicle membrane
• perinuclear region of cytoplasm
• synapse

Protein domainsUniProt · Pfam · InterPro

• Forkhead-associated (FHA) domain
• Kinesin motor domain
• Pleckstrin homology domain
• SMAD/FHA domain superfamily
• PH-like domain superfamily
• Kinesin motor domain, conserved site
• Kinesin-like KIF1-type
• Kinesin-like
• P-loop containing nucleoside triphosphate hydrolase
• Kinesin-associated
• Kinesin motor domain superfamily
• Kinesin-like protein KIF1A/B, pleckstrin homology domain
• PH domain
• Kinesin motor domain
• FHA domain
• Kinesin protein 1B
• Kinesin protein
• Kinesin-associated
• Kinesin-like protein KIF1A, forkhead associated domain

KeywordsUniProt

• ATP-binding
• Cell projection
• Coiled coil
• Cytoplasm
• Cytoplasmic vesicle
• Cytoskeleton
• Hereditary spastic paraplegia
• Hydrolase
• Intellectual disability
• Isomerase
• Magnesium
• Membrane
• Metal-binding
• Microtubule
• Motor protein
• Neurodegeneration
• Neuropathy
• Nucleotide-binding
• Phosphoprotein
• Synapse

InteractionsUniProt · HPA

Protein binding partners of KIF1A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CALM1
• MADD
• PPFIA1
• PPFIA2
• PPFIA4
• SYT4
• TANC2
• SYT11