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Q12756

- KIF1A_HUMAN

UniProt

Q12756 - KIF1A_HUMAN

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Protein

Kinesin-like protein KIF1A

Gene

KIF1A

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 – 1048ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. ATPase activity Source: RefGenome
  2. ATP binding Source: UniProtKB-KW
  3. motor activity Source: ProtInc
  4. plus-end-directed microtubule motor activity Source: RefGenome

GO - Biological processi

  1. anterograde axon cargo transport Source: ProtInc
  2. ATP catabolic process Source: GOC
  3. cell death Source: UniProtKB-KW
  4. cytoskeleton-dependent intracellular transport Source: RefGenome
  5. metabolic process Source: GOC
  6. microtubule-based movement Source: RefGenome
  7. vesicle-mediated transport Source: RefGenome
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 1 Publication
Note: Expressed in distal regions of neurites.

GO - Cellular componenti

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

BgeeiQ12756.
ExpressionAtlasiQ12756. baseline and differential.
GenevestigatoriQ12756.

Organism-specific databases

HPAiHPA004831.
HPA005442.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi107029. 30 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 – 47114Combined sources
Beta strandi474 – 4763Combined sources
Beta strandi480 – 4856Combined sources
Beta strandi489 – 4913Combined sources
Beta strandi493 – 4964Combined sources
Beta strandi507 – 5104Combined sources
Beta strandi513 – 5197Combined sources
Beta strandi521 – 5255Combined sources
Beta strandi528 – 5303Combined sources
Beta strandi538 – 5469Combined sources
Beta strandi550 – 5523Combined sources
Beta strandi554 – 5596Combined sources
Beta strandi565 – 5673Combined sources
Beta strandi583 – 5864Combined sources
Turni587 – 5893Combined sources
Beta strandi590 – 5956Combined sources
Helixi597 – 6048Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4EGXX-ray2.51A/B/C/D430-607[»]
4EJQX-ray1.89A/B/C/D/E/F/G/H458-607[»]
4UXOelectron microscopy6.30C1-361[»]
4UXPelectron microscopy6.30C1-361[»]
4UXRelectron microscopy7.00C1-361[»]
4UXSelectron microscopy7.00C1-361[»]
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.
GeneTreeiENSGT00770000120451.
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

        10         20         30         40         50
MAGASVKVAV RVRPFNSREM SRDSKCIIQM SGSTTTIVNP KQPKETPKSF
60 70 80 90 100
SFDYSYWSHT SPEDINYASQ KQVYRDIGEE MLQHAFEGYN VCIFAYGQTG
110 120 130 140 150
AGKSYTMMGK QEKDQQGIIP QLCEDLFSRI NDTTNDNMSY SVEVSYMEIY
160 170 180 190 200
CERVRDLLNP KNKGNLRVRE HPLLGPYVED LSKLAVTSYN DIQDLMDSGN
210 220 230 240 250
KARTVAATNM NETSSRSHAV FNIIFTQKRH DAETNITTEK VSKISLVDLA
260 270 280 290 300
GSERADSTGA KGTRLKEGAN INKSLTTLGK VISALAEMDS GPNKNKKKKK
310 320 330 340 350
TDFIPYRDSV LTWLLRENLG GNSRTAMVAA LSPADINYDE TLSTLRYADR
360 370 380 390 400
AKQIRCNAVI NEDPNNKLIR ELKDEVTRLR DLLYAQGLGD ITDMTNALVG
410 420 430 440 450
MSPSSSLSAL SSRAASVSSL HERILFAPGS EEAIERLKET EKIIAELNET
460 470 480 490 500
WEEKLRRTEA IRMEREALLA EMGVAMREDG GTLGVFSPKK TPHLVNLNED
510 520 530 540 550
PLMSECLLYY IKDGITRVGR EDGERRQDIV LSGHFIKEEH CVFRSDSRGG
560 570 580 590 600
SEAVVTLEPC EGADTYVNGK KVTEPSILRS GNRIIMGKSH VFRFNHPEQA
610 620 630 640 650
RQERERTPCA ETPAEPVDWA FAQRELLEKQ GIDMKQEMEQ RLQELEDQYR
660 670 680 690 700
REREEATYLL EQQRLDYESK LEALQKQMDS RYYPEVNEEE EEPEDEVQWT
710 720 730 740 750
ERECELALWA FRKWKWYQFT SLRDLLWGNA IFLKEANAIS VELKKKVQFQ
760 770 780 790 800
FVLLTDTLYS PLPPDLLPPE AAKDRETRPF PRTIVAVEVQ DQKNGATHYW
810 820 830 840 850
TLEKLRQRLD LMREMYDRAA EVPSSVIEDC DNVVTGGDPF YDRFPWFRLV
860 870 880 890 900
GRAFVYLSNL LYPVPLVHRV AIVSEKGEVK GFLRVAVQAI SADEEAPDYG
910 920 930 940 950
SGVRQSGTAK ISFDDQHFEK FQSESCPVVG MSRSGTSQEE LRIVEGQGQG
960 970 980 990 1000
ADVGPSADEV NNNTCSAVPP EGLLLDSSEK AALDGPLDAA LDHLRLGNTF
1010 1020 1030 1040 1050
TFRVTVLQAS SISAEYADIF CQFNFIHRHD EAFSTEPLKN TGRGPPLGFY
1060 1070 1080 1090 1100
HVQNIAVEVT KSFIEYIKSQ PIVFEVFGHY QQHPFPPLCK DVLSPLRPSR
1110 1120 1130 1140 1150
RHFPRVMPLS KPVPATKLST LTRPCPGPCH CKYDLLVYFE ICELEANGDY
1160 1170 1180 1190 1200
IPAVVDHRGG MPCMGTFLLH QGIQRRITVT LLHETGSHIR WKEVRELVVG
1210 1220 1230 1240 1250
RIRNTPETDE SLIDPNILSL NILSSGYIHP AQDDRTFYQF EAAWDSSMHN
1260 1270 1280 1290 1300
SLLLNRVTPY REKIYMTLSA YIEMENCTQP AVVTKDFCMV FYSRDAKLPA
1310 1320 1330 1340 1350
SRSIRNLFGS GSLRASESNR VTGVYELSLC HVADAGSPGM QRRRRRVLDT
1360 1370 1380 1390 1400
SVAYVRGEEN LAGWRPRSDS LILDHQWELE KLSLLQEVEK TRHYLLLREK
1410 1420 1430 1440 1450
LETAQRPVPE ALSPAFSEDS ESHGSSSASS PLSAEGRPSP LEAPNERQRE
1460 1470 1480 1490 1500
LAVKCLRLLT HTFNREYTHS HVCVSASESK LSEMSVTLLR DPSMSPLGVA
1510 1520 1530 1540 1550
TLTPSSTCPS LVEGRYGATD LRTPQPCSRP ASPEPELLPE ADSKKLPSPA
1560 1570 1580 1590 1600
RATETDKEPQ RLLVPDIQEI RVSPIVSKKG YLHFLEPHTS GWARRFVVVR
1610 1620 1630 1640 1650
RPYAYMYNSD KDTVERFVLN LATAQVEYSE DQQAMLKTPN TFAVCTEHRG
1660 1670 1680 1690
ILLQAASDKD MHDWLYAFNP LLAGTIRSKL SRRRSAQMRV
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 AAB97363.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAE06111.1 differs from that shown. Reason: Probable cloning artifact leading to C-terminal exon with non-canonical splice junction.Curated
The sequence BAE06111.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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:
PDBei
RCSB PDBi
PDBji
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 [» ]
4UXO electron microscopy 6.30 C 1-361 [» ]
4UXP electron microscopy 6.30 C 1-361 [» ]
4UXR electron microscopy 7.00 C 1-361 [» ]
4UXS electron microscopy 7.00 C 1-361 [» ]
ProteinModelPortali Q12756.
SMRi Q12756. Positions 4-393, 430-605.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107029. 30 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 non-syndromic 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.
GeneTreei ENSGT00770000120451.
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

Bgeei Q12756.
ExpressionAtlasi Q12756. baseline and differential.
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: November 26, 2014
This is version 134 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