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Q12756

- KIF1A_HUMAN

UniProt

Q12756 - KIF1A_HUMAN

Protein

Kinesin-like protein KIF1A

Gene

KIF1A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 2 (12 Dec 2006)
      Previous versions | rss
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    Functioni

    Motor for anterograde axonal transport of synaptic vesicle precursors.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi97 – 1048ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. microtubule motor activity Source: InterPro
    3. motor activity Source: ProtInc

    GO - Biological processi

    1. anterograde axon cargo transport Source: ProtInc
    2. cell death Source: UniProtKB-KW
    3. metabolic process Source: GOC

    Keywords - Molecular functioni

    Motor protein

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Kinesin-like protein KIF1A
    Alternative name(s):
    Axonal transporter of synaptic vesicles
    Microtubule-based motor KIF1A
    Unc-104- and KIF1A-related protein
    Short name:
    hUnc-104
    Gene namesi
    Name:KIF1A
    Synonyms:ATSV, C2orf20
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:888. KIF1A.

    Subcellular locationi

    Cytoplasmcytoskeleton 1 Publication
    Note: Expressed in distal regions of neurites.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-KW
    2. kinesin complex Source: InterPro
    3. microtubule Source: UniProtKB-KW
    4. neuronal cell body Source: Ensembl
    5. neuron projection Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton, Microtubule

    Pathology & Biotechi

    Involvement in diseasei

    Spastic paraplegia 30, autosomal recessive (SPG30) [MIM:610357]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG30 is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti255 – 2551A → V in SPG30. 1 Publication
    VAR_066650
    Neuropathy, hereditary sensory, 2C (HSN2C) [MIM:614213]: A neurodegenerative disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti99 – 991T → M in MRD9; affects the subcellular location of the protein; there is a reduced distal localization and increased accumulation throughout the cell body and proximal neurites in cells transfected with a mutant protein. 1 Publication
    VAR_066649

    Keywords - Diseasei

    Disease mutation, Hereditary spastic paraplegia, Mental retardation, Neurodegeneration, Neuropathy

    Organism-specific databases

    MIMi610357. phenotype.
    614213. phenotype.
    614255. phenotype.
    Orphaneti178469. Autosomal dominant nonsyndromic intellectual disability.
    101010. Autosomal recessive spastic paraplegia type 30.
    970. Hereditary sensory and autonomic neuropathy type 2.
    PharmGKBiPA25180.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 16901690Kinesin-like protein KIF1APRO_0000125405Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei416 – 4161Phosphoserine1 Publication
    Modified residuei418 – 4181Phosphoserine1 Publication
    Modified residuei419 – 4191Phosphoserine1 Publication
    Modified residuei937 – 9371Phosphoserine1 Publication
    Modified residuei1310 – 13101Phosphoserine1 Publication
    Modified residuei1548 – 15481Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ12756.
    PaxDbiQ12756.
    PRIDEiQ12756.

    PTM databases

    PhosphoSiteiQ12756.

    Expressioni

    Tissue specificityi

    Expressed in neurons.1 Publication

    Gene expression databases

    ArrayExpressiQ12756.
    BgeeiQ12756.
    GenevestigatoriQ12756.

    Organism-specific databases

    HPAiHPA004831.
    HPA005442.

    Interactioni

    Subunit structurei

    Monomer. Interacts with PPFIA1 and PPFIA4 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi107029. 9 interactions.
    DIPiDIP-42405N.
    IntActiQ12756. 2 interactions.
    MINTiMINT-1173769.

    Structurei

    Secondary structure

    1
    1690
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi458 – 47114
    Beta strandi474 – 4763
    Beta strandi480 – 4856
    Beta strandi489 – 4913
    Beta strandi493 – 4964
    Beta strandi507 – 5104
    Beta strandi513 – 5197
    Beta strandi521 – 5255
    Beta strandi528 – 5303
    Beta strandi538 – 5469
    Beta strandi550 – 5523
    Beta strandi554 – 5596
    Beta strandi565 – 5673
    Beta strandi583 – 5864
    Turni587 – 5893
    Beta strandi590 – 5956
    Helixi597 – 6048

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4EGXX-ray2.51A/B/C/D430-607[»]
    4EJQX-ray1.89A/B/C/D/E/F/G/H458-607[»]
    ProteinModelPortaliQ12756.
    SMRiQ12756. Positions 4-393, 430-605.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini5 – 354350Kinesin motorPROSITE-ProRule annotationAdd
    BLAST
    Domaini516 – 57257FHAPROSITE-ProRule annotationAdd
    BLAST
    Domaini1575 – 167399PHPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili366 – 38318Sequence AnalysisAdd
    BLAST
    Coiled coili429 – 46234Sequence AnalysisAdd
    BLAST
    Coiled coili622 – 68160Sequence AnalysisAdd
    BLAST
    Coiled coili801 – 82222Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily.PROSITE-ProRule annotation
    Contains 1 FHA domain.PROSITE-ProRule annotation
    Contains 1 kinesin motor domain.PROSITE-ProRule annotation
    Contains 1 PH domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiCOG5059.
    HOVERGENiHBG052251.
    InParanoidiQ12756.
    KOiK10392.
    OMAiDRTFYQF.
    OrthoDBiEOG77Q4VS.
    PhylomeDBiQ12756.
    TreeFamiTF105221.

    Family and domain databases

    Gene3Di2.30.29.30. 1 hit.
    2.60.200.20. 1 hit.
    3.40.850.10. 1 hit.
    InterProiIPR000253. FHA_dom.
    IPR022140. KIF1B.
    IPR022164. Kinesin-like.
    IPR027640. Kinesin-like_fam.
    IPR019821. Kinesin_motor_CS.
    IPR001752. Kinesin_motor_dom.
    IPR027417. P-loop_NTPase.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR008984. SMAD_FHA_domain.
    [Graphical view]
    PANTHERiPTHR24115. PTHR24115. 1 hit.
    PfamiPF12473. DUF3694. 1 hit.
    PF00498. FHA. 1 hit.
    PF12423. KIF1B. 1 hit.
    PF00225. Kinesin. 1 hit.
    PF00169. PH. 1 hit.
    [Graphical view]
    PRINTSiPR00380. KINESINHEAVY.
    SMARTiSM00240. FHA. 1 hit.
    SM00129. KISc. 1 hit.
    SM00233. PH. 1 hit.
    [Graphical view]
    SUPFAMiSSF49879. SSF49879. 1 hit.
    SSF52540. SSF52540. 1 hit.
    PROSITEiPS50006. FHA_DOMAIN. 1 hit.
    PS00411. KINESIN_MOTOR_1. 1 hit.
    PS50067. KINESIN_MOTOR_2. 1 hit.
    PS50003. PH_DOMAIN. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q12756-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAGASVKVAV RVRPFNSREM SRDSKCIIQM SGSTTTIVNP KQPKETPKSF     50
    SFDYSYWSHT SPEDINYASQ KQVYRDIGEE MLQHAFEGYN VCIFAYGQTG 100
    AGKSYTMMGK QEKDQQGIIP QLCEDLFSRI NDTTNDNMSY SVEVSYMEIY 150
    CERVRDLLNP KNKGNLRVRE HPLLGPYVED LSKLAVTSYN DIQDLMDSGN 200
    KARTVAATNM NETSSRSHAV FNIIFTQKRH DAETNITTEK VSKISLVDLA 250
    GSERADSTGA KGTRLKEGAN INKSLTTLGK VISALAEMDS GPNKNKKKKK 300
    TDFIPYRDSV LTWLLRENLG GNSRTAMVAA LSPADINYDE TLSTLRYADR 350
    AKQIRCNAVI NEDPNNKLIR ELKDEVTRLR DLLYAQGLGD ITDMTNALVG 400
    MSPSSSLSAL SSRAASVSSL HERILFAPGS EEAIERLKET EKIIAELNET 450
    WEEKLRRTEA IRMEREALLA EMGVAMREDG GTLGVFSPKK TPHLVNLNED 500
    PLMSECLLYY IKDGITRVGR EDGERRQDIV LSGHFIKEEH CVFRSDSRGG 550
    SEAVVTLEPC EGADTYVNGK KVTEPSILRS GNRIIMGKSH VFRFNHPEQA 600
    RQERERTPCA ETPAEPVDWA FAQRELLEKQ GIDMKQEMEQ RLQELEDQYR 650
    REREEATYLL EQQRLDYESK LEALQKQMDS RYYPEVNEEE EEPEDEVQWT 700
    ERECELALWA FRKWKWYQFT SLRDLLWGNA IFLKEANAIS VELKKKVQFQ 750
    FVLLTDTLYS PLPPDLLPPE AAKDRETRPF PRTIVAVEVQ DQKNGATHYW 800
    TLEKLRQRLD LMREMYDRAA EVPSSVIEDC DNVVTGGDPF YDRFPWFRLV 850
    GRAFVYLSNL LYPVPLVHRV AIVSEKGEVK GFLRVAVQAI SADEEAPDYG 900
    SGVRQSGTAK ISFDDQHFEK FQSESCPVVG MSRSGTSQEE LRIVEGQGQG 950
    ADVGPSADEV NNNTCSAVPP EGLLLDSSEK AALDGPLDAA LDHLRLGNTF 1000
    TFRVTVLQAS SISAEYADIF CQFNFIHRHD EAFSTEPLKN TGRGPPLGFY 1050
    HVQNIAVEVT KSFIEYIKSQ PIVFEVFGHY QQHPFPPLCK DVLSPLRPSR 1100
    RHFPRVMPLS KPVPATKLST LTRPCPGPCH CKYDLLVYFE ICELEANGDY 1150
    IPAVVDHRGG MPCMGTFLLH QGIQRRITVT LLHETGSHIR WKEVRELVVG 1200
    RIRNTPETDE SLIDPNILSL NILSSGYIHP AQDDRTFYQF EAAWDSSMHN 1250
    SLLLNRVTPY REKIYMTLSA YIEMENCTQP AVVTKDFCMV FYSRDAKLPA 1300
    SRSIRNLFGS GSLRASESNR VTGVYELSLC HVADAGSPGM QRRRRRVLDT 1350
    SVAYVRGEEN LAGWRPRSDS LILDHQWELE KLSLLQEVEK TRHYLLLREK 1400
    LETAQRPVPE ALSPAFSEDS ESHGSSSASS PLSAEGRPSP LEAPNERQRE 1450
    LAVKCLRLLT HTFNREYTHS HVCVSASESK LSEMSVTLLR DPSMSPLGVA 1500
    TLTPSSTCPS LVEGRYGATD LRTPQPCSRP ASPEPELLPE ADSKKLPSPA 1550
    RATETDKEPQ RLLVPDIQEI RVSPIVSKKG YLHFLEPHTS GWARRFVVVR 1600
    RPYAYMYNSD KDTVERFVLN LATAQVEYSE DQQAMLKTPN TFAVCTEHRG 1650
    ILLQAASDKD MHDWLYAFNP LLAGTIRSKL SRRRSAQMRV 1690
    Length:1,690
    Mass (Da):191,064
    Last modified:December 12, 2006 - v2
    Checksum:iFB3CA33B7060AF60
    GO
    Isoform 2 (identifier: Q12756-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         394-394: M → TNTVPGGPKL
         848-848: R → RLVGSSAISG...PFYDRPPLFS
         1234-1234: D → DRVSLGNDT

    Show »
    Length:1,799
    Mass (Da):202,902
    Checksum:i2A9CDACAF2E1395B
    GO
    Isoform 3 (identifier: Q12756-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         394-394: M → TNTVPGGPKL
         848-848: R → RLVGSSAISG...PFYDRPPLFS

    Note: No experimental confirmation available.

    Show »
    Length:1,791
    Mass (Da):202,059
    Checksum:i704ED93D10A615FE
    GO

    Sequence cautioni

    The sequence BAE06111.1 differs from that shown. Reason: Probable cloning artifact leading to C-terminal exon with non-canonical splice junction.
    The sequence AAB97363.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAE06111.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti104 – 1041S → T in AAD02917. 1 PublicationCurated
    Sequence conflicti595 – 5951N → T in CAA62346. (PubMed:8661001)Curated
    Sequence conflicti777 – 7771T → K in CAA62346. (PubMed:8661001)Curated
    Sequence conflicti1030 – 10301D → E in AAA80352. 1 PublicationCurated
    Sequence conflicti1034 – 10341S → C in AAA80352. 1 PublicationCurated
    Sequence conflicti1108 – 11081P → L in BAG06726. 1 PublicationCurated
    Sequence conflicti1108 – 11081P → L in BAD92375. 1 PublicationCurated
    Sequence conflicti1225 – 12251S → A in CAA62346. (PubMed:8661001)Curated
    Sequence conflicti1232 – 12321Q → H in CAA62346. (PubMed:8661001)Curated
    Sequence conflicti1245 – 12451D → N in CAA62346. (PubMed:8661001)Curated
    Sequence conflicti1257 – 12571V → I in CAA62346. (PubMed:8661001)Curated
    Sequence conflicti1684 – 16841R → W in AAI11781. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti99 – 991T → M in MRD9; affects the subcellular location of the protein; there is a reduced distal localization and increased accumulation throughout the cell body and proximal neurites in cells transfected with a mutant protein. 1 Publication
    VAR_066649
    Natural varianti255 – 2551A → V in SPG30. 1 Publication
    VAR_066650

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei394 – 3941M → TNTVPGGPKL in isoform 2 and isoform 3. 2 PublicationsVSP_021853
    Alternative sequencei848 – 8481R → RLVGSSAISGCNSYPLLNTC MSERMAALTPSPTFSSPDSD ATEPAEEQSVGEEEEEEEEE EDEEEEDLEDDVFPEHALCD GRDPFYDRPPLFS in isoform 2 and isoform 3. 2 PublicationsVSP_021854
    Alternative sequencei1234 – 12341D → DRVSLGNDT in isoform 2. 1 PublicationVSP_021855

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X90840 mRNA. Translation: CAA62346.1.
    AB290172 mRNA. Translation: BAG06726.1.
    AC011298 Genomic DNA. Translation: AAX93239.1.
    AC112784 Genomic DNA. No translation available.
    BC064906 mRNA. Translation: AAH64906.1.
    BC111780 mRNA. Translation: AAI11781.1.
    BC111799 mRNA. Translation: AAI11800.1.
    AB210029 mRNA. Translation: BAE06111.1. Sequence problems.
    AF004425 mRNA. Translation: AAD02917.1.
    AB209138 mRNA. Translation: BAD92375.1.
    U37194 mRNA. Translation: AAA80352.1.
    L79946 mRNA. Translation: AAB04640.1.
    AF038173 mRNA. Translation: AAB97363.1. Different initiation.
    BX537556 mRNA. Translation: CAH56161.1.
    CCDSiCCDS46561.1. [Q12756-1]
    CCDS58757.1. [Q12756-3]
    RefSeqiNP_001230937.1. NM_001244008.1. [Q12756-3]
    NP_004312.2. NM_004321.6. [Q12756-1]
    XP_005247080.1. XM_005247023.1. [Q12756-2]
    XP_005247085.1. XM_005247028.1. [Q12756-1]
    UniGeneiHs.516802.

    Genome annotation databases

    EnsembliENST00000320389; ENSP00000322791; ENSG00000130294. [Q12756-1]
    ENST00000498729; ENSP00000438388; ENSG00000130294. [Q12756-3]
    GeneIDi547.
    KEGGihsa:547.
    UCSCiuc002vzz.2. human. [Q12756-2]
    uc031rsb.1. human. [Q12756-1]

    Polymorphism databases

    DMDMi119364606.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X90840 mRNA. Translation: CAA62346.1 .
    AB290172 mRNA. Translation: BAG06726.1 .
    AC011298 Genomic DNA. Translation: AAX93239.1 .
    AC112784 Genomic DNA. No translation available.
    BC064906 mRNA. Translation: AAH64906.1 .
    BC111780 mRNA. Translation: AAI11781.1 .
    BC111799 mRNA. Translation: AAI11800.1 .
    AB210029 mRNA. Translation: BAE06111.1 . Sequence problems.
    AF004425 mRNA. Translation: AAD02917.1 .
    AB209138 mRNA. Translation: BAD92375.1 .
    U37194 mRNA. Translation: AAA80352.1 .
    L79946 mRNA. Translation: AAB04640.1 .
    AF038173 mRNA. Translation: AAB97363.1 . Different initiation.
    BX537556 mRNA. Translation: CAH56161.1 .
    CCDSi CCDS46561.1. [Q12756-1 ]
    CCDS58757.1. [Q12756-3 ]
    RefSeqi NP_001230937.1. NM_001244008.1. [Q12756-3 ]
    NP_004312.2. NM_004321.6. [Q12756-1 ]
    XP_005247080.1. XM_005247023.1. [Q12756-2 ]
    XP_005247085.1. XM_005247028.1. [Q12756-1 ]
    UniGenei Hs.516802.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4EGX X-ray 2.51 A/B/C/D 430-607 [» ]
    4EJQ X-ray 1.89 A/B/C/D/E/F/G/H 458-607 [» ]
    ProteinModelPortali Q12756.
    SMRi Q12756. Positions 4-393, 430-605.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107029. 9 interactions.
    DIPi DIP-42405N.
    IntActi Q12756. 2 interactions.
    MINTi MINT-1173769.

    PTM databases

    PhosphoSitei Q12756.

    Polymorphism databases

    DMDMi 119364606.

    Proteomic databases

    MaxQBi Q12756.
    PaxDbi Q12756.
    PRIDEi Q12756.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000320389 ; ENSP00000322791 ; ENSG00000130294 . [Q12756-1 ]
    ENST00000498729 ; ENSP00000438388 ; ENSG00000130294 . [Q12756-3 ]
    GeneIDi 547.
    KEGGi hsa:547.
    UCSCi uc002vzz.2. human. [Q12756-2 ]
    uc031rsb.1. human. [Q12756-1 ]

    Organism-specific databases

    CTDi 547.
    GeneCardsi GC02M241653.
    GeneReviewsi KIF1A.
    HGNCi HGNC:888. KIF1A.
    HPAi HPA004831.
    HPA005442.
    MIMi 601255. gene.
    610357. phenotype.
    614213. phenotype.
    614255. phenotype.
    neXtProti NX_Q12756.
    Orphaneti 178469. Autosomal dominant nonsyndromic intellectual disability.
    101010. Autosomal recessive spastic paraplegia type 30.
    970. Hereditary sensory and autonomic neuropathy type 2.
    PharmGKBi PA25180.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5059.
    HOVERGENi HBG052251.
    InParanoidi Q12756.
    KOi K10392.
    OMAi DRTFYQF.
    OrthoDBi EOG77Q4VS.
    PhylomeDBi Q12756.
    TreeFami TF105221.

    Miscellaneous databases

    ChiTaRSi KIF1A. human.
    GeneWikii KIF1A.
    GenomeRNAii 547.
    NextBioi 2265.
    PROi Q12756.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q12756.
    Bgeei Q12756.
    Genevestigatori Q12756.

    Family and domain databases

    Gene3Di 2.30.29.30. 1 hit.
    2.60.200.20. 1 hit.
    3.40.850.10. 1 hit.
    InterProi IPR000253. FHA_dom.
    IPR022140. KIF1B.
    IPR022164. Kinesin-like.
    IPR027640. Kinesin-like_fam.
    IPR019821. Kinesin_motor_CS.
    IPR001752. Kinesin_motor_dom.
    IPR027417. P-loop_NTPase.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR008984. SMAD_FHA_domain.
    [Graphical view ]
    PANTHERi PTHR24115. PTHR24115. 1 hit.
    Pfami PF12473. DUF3694. 1 hit.
    PF00498. FHA. 1 hit.
    PF12423. KIF1B. 1 hit.
    PF00225. Kinesin. 1 hit.
    PF00169. PH. 1 hit.
    [Graphical view ]
    PRINTSi PR00380. KINESINHEAVY.
    SMARTi SM00240. FHA. 1 hit.
    SM00129. KISc. 1 hit.
    SM00233. PH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49879. SSF49879. 1 hit.
    SSF52540. SSF52540. 1 hit.
    PROSITEi PS50006. FHA_DOMAIN. 1 hit.
    PS00411. KINESIN_MOTOR_1. 1 hit.
    PS50067. KINESIN_MOTOR_2. 1 hit.
    PS50003. PH_DOMAIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of a kinesin-related gene ATSV, within the tuberous sclerosis locus (TSC1) candidate region on chromosome 9q34."
      Furlong R.A., Zhou C.Y., Ferguson-Smith M.A., Affara N.A.
      Genomics 33:421-429(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. "Multiplex amplification and cloning of 5'-ends of cDNA by ligase-free recombination: preparation of full-length cDNA clones encoding motor proteins."
      Yamakawa H., Kikuno R.F., Nagase T., Ohara O.
      Submitted (JAN-2007) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Brain.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Pancreas.
    5. "Preparation of a set of expression-ready clones of mammalian long cDNAs encoding large proteins by the ORF trap cloning method."
      Nakajima D., Saito K., Yamakawa H., Kikuno R.F., Nakayama M., Ohara R., Okazaki N., Koga H., Nagase T., Ohara O.
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1362 (ISOFORM 2).
      Tissue: Brain.
    6. Bost-Usinger L., Hoang E.H.
      Submitted (MAY-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 102-251.
      Tissue: Retina.
    7. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 882-1690 (ISOFORM 1).
      Tissue: Brain.
    8. "A putative human kinesin family member with sequence similarity to unc-104 and KIF1A."
      Campagna S.E., Otsuka A.J.
      Submitted (SEP-1995) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1030-1690 (ISOFORM 1).
      Tissue: Brain.
    9. Yu W., Sarginson J., Gibbs R.A.
      Submitted (DEC-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1275-1690 (ISOFORM 1).
      Tissue: Brain.
    10. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1318-1690 (ISOFORM 1).
      Tissue: Amygdala.
    11. Cited for: INVOLVEMENT IN HSN2C.
    12. Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANT MRD9 MET-99, CHARACTERIZATION OF VARIANT MRD9 MET-99.
    13. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-416; SER-418; SER-419; SER-937; SER-1310 AND SER-1548, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis."
      Erlich Y., Edvardson S., Hodges E., Zenvirt S., Thekkat P., Shaag A., Dor T., Hannon G.J., Elpeleg O.
      Genome Res. 21:658-664(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG30 VAL-255.

    Entry informationi

    Entry nameiKIF1A_HUMAN
    AccessioniPrimary (citable) accession number: Q12756
    Secondary accession number(s): B0I1S5
    , F5H045, O95068, Q13355, Q14752, Q2NKJ6, Q4LE42, Q53T78, Q59GH1, Q63Z40, Q6P1R9, Q7KZ57
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: December 12, 2006
    Last modified: October 1, 2014
    This is version 132 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3