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Q12756

- KIF1A_HUMAN

UniProt

Q12756 - KIF1A_HUMAN

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Protein
Kinesin-like protein KIF1A
Gene
KIF1A, ATSV, C2orf20
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi97 – 1048ATP By similarity

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
Complete GO annotation...

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
Note: Expressed in distal regions of neurites.1 Publication

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 KIF1A
PRO_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.

Protein-protein interaction databases

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

Structurei

Secondary structure

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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini5 – 354350Kinesin motor
Add
BLAST
Domaini516 – 57257FHA
Add
BLAST
Domaini1575 – 167399PH
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili366 – 38318 Reviewed prediction
Add
BLAST
Coiled coili429 – 46234 Reviewed prediction
Add
BLAST
Coiled coili622 – 68160 Reviewed prediction
Add
BLAST
Coiled coili801 – 82222 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Contains 1 FHA domain.
Contains 1 PH domain.

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.

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.
VSP_021853
Alternative sequencei848 – 8481R → RLVGSSAISGCNSYPLLNTC MSERMAALTPSPTFSSPDSD ATEPAEEQSVGEEEEEEEEE EDEEEEDLEDDVFPEHALCD GRDPFYDRPPLFS in isoform 2 and isoform 3.
VSP_021854
Alternative sequencei1234 – 12341D → DRVSLGNDT in isoform 2.
VSP_021855

Sequence conflict

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

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 131 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

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