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Protein

Kinesin-like protein KIF1A

Gene

KIF1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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)DescriptionActionsGraphical viewLength
Nucleotide bindingi97 – 104ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • ATPase activity Source: GO_Central
  • ATP binding Source: UniProtKB-KW
  • microtubule motor activity Source: GO_Central
  • motor activity Source: ProtInc

GO - Biological processi

  • anterograde axonal transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Motor protein

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000130294-MONOMER.
ReactomeiR-HSA-6811434. COPI-dependent Golgi-to-ER retrograde traffic.
R-HSA-983189. Kinesins.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:888. KIF1A.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 30, autosomal recessive (SPG30)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:610357
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066650255A → V in SPG30 and MRD9; unknown pathological significance; reduces accumulation in distal regions of the neurites; no effect on microtubule motility. 3 PublicationsCorresponds to variant rs387906798dbSNPEnsembl.1
Neuropathy, hereditary sensory, 2C (HSN2C)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614213
Mental retardation, autosomal dominant 9 (MRD9)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:614255
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07547258S → L in MRD9. 1 PublicationCorresponds to variant rs672601362dbSNPEnsembl.1
Natural variantiVAR_06664999T → 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; disrupts microtubule motility. 3 PublicationsCorresponds to variant rs387906799dbSNPEnsembl.1
Natural variantiVAR_075473102G → D in MRD9. 1 PublicationCorresponds to variant rs672601363dbSNPEnsembl.1
Natural variantiVAR_075475144V → F in MRD9. 1 PublicationCorresponds to variant rs672601364dbSNPEnsembl.1
Natural variantiVAR_075476167R → C in MRD9. 1 PublicationCorresponds to variant rs672601365dbSNPEnsembl.1
Natural variantiVAR_075478202A → P in MRD9; reduces accumulation in distal regions of the neurites. 1 PublicationCorresponds to variant rs672601366dbSNPEnsembl.1
Natural variantiVAR_075480215S → R in MRD9; reduces accumulation in distal regions of the neurites. 1 PublicationCorresponds to variant rs672601367dbSNPEnsembl.1
Natural variantiVAR_075481216R → C in MRD9; disrupts microtubule motility. 1 Publication1
Natural variantiVAR_075482216R → H in MRD9. 1 Publication1
Natural variantiVAR_075483216R → P in MRD9; reduces accumulation in distal regions of the neurites. 1 PublicationCorresponds to variant rs672601368dbSNPEnsembl.1
Natural variantiVAR_075486249L → Q in MRD9. 1 PublicationCorresponds to variant rs672601371dbSNPEnsembl.1
Natural variantiVAR_075487253E → K in MRD9; reduces accumulation in distal regions of the neurites; disrupts microtubule motility. 2 PublicationsCorresponds to variant rs672601369dbSNPEnsembl.1
Natural variantiVAR_066650255A → V in SPG30 and MRD9; unknown pathological significance; reduces accumulation in distal regions of the neurites; no effect on microtubule motility. 3 PublicationsCorresponds to variant rs387906798dbSNPEnsembl.1
Natural variantiVAR_075488316R → W in MRD9. 2 PublicationsCorresponds to variant rs672601370dbSNPEnsembl.1
Natural variantiVAR_075490350R → G in MRD9; reduces accumulation in distal regions of the neurites. 1 PublicationCorresponds to variant rs387907259dbSNPEnsembl.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi547.
MalaCardsiKIF1A.
MIMi610357. phenotype.
614213. phenotype.
614255. phenotype.
OpenTargetsiENSG00000130294.
Orphaneti178469. Autosomal dominant non-syndromic intellectual disability.
101010. Autosomal recessive spastic paraplegia type 30.
970. Hereditary sensory and autonomic neuropathy type 2.
PharmGKBiPA25180.

Polymorphism and mutation databases

BioMutaiKIF1A.
DMDMi119364606.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001254051 – 1690Kinesin-like protein KIF1AAdd BLAST1690

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei416PhosphoserineCombined sources1
Modified residuei418PhosphoserineCombined sources1
Modified residuei419PhosphoserineCombined sources1
Modified residuei607PhosphothreonineBy similarity1
Modified residuei612PhosphothreonineBy similarity1
Modified residuei932PhosphoserineBy similarity1
Modified residuei937PhosphoserineCombined sources1
Modified residuei1310PhosphoserineCombined sources1
Modified residuei1337PhosphoserineBy similarity1
Modified residuei1519PhosphothreonineBy similarity1
Modified residuei1523PhosphothreonineBy similarity1
Modified residuei1528PhosphoserineBy similarity1
Modified residuei1532PhosphoserineBy similarity1
Modified residuei1548PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ12756.
MaxQBiQ12756.
PaxDbiQ12756.
PeptideAtlasiQ12756.
PRIDEiQ12756.

PTM databases

iPTMnetiQ12756.
PhosphoSitePlusiQ12756.

Expressioni

Tissue specificityi

Expressed in neurons.1 Publication

Gene expression databases

BgeeiENSG00000130294.
ExpressionAtlasiQ12756. baseline and differential.
GenevisibleiQ12756. HS.

Organism-specific databases

HPAiHPA005442.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi107029. 44 interactors.
DIPiDIP-42405N.
IntActiQ12756. 3 interactors.
MINTiMINT-1173769.
STRINGi9606.ENSP00000322791.

Structurei

Secondary structure

11690
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi458 – 471Combined sources14
Beta strandi474 – 476Combined sources3
Beta strandi480 – 485Combined sources6
Beta strandi489 – 491Combined sources3
Beta strandi493 – 496Combined sources4
Beta strandi507 – 510Combined sources4
Beta strandi513 – 519Combined sources7
Beta strandi521 – 525Combined sources5
Beta strandi528 – 530Combined sources3
Beta strandi538 – 546Combined sources9
Beta strandi550 – 552Combined sources3
Beta strandi554 – 559Combined sources6
Beta strandi565 – 567Combined sources3
Beta strandi583 – 586Combined sources4
Turni587 – 589Combined sources3
Beta strandi590 – 595Combined sources6
Helixi597 – 604Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini5 – 354Kinesin motorPROSITE-ProRule annotationAdd BLAST350
Domaini516 – 572FHAPROSITE-ProRule annotationAdd BLAST57
Domaini1575 – 1673PHPROSITE-ProRule annotationAdd BLAST99

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili366 – 383Sequence analysisAdd BLAST18
Coiled coili429 – 462Sequence analysisAdd BLAST34
Coiled coili622 – 681Sequence analysisAdd BLAST60
Coiled coili801 – 822Sequence analysisAdd BLAST22

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

eggNOGiKOG0245. Eukaryota.
COG5059. LUCA.
GeneTreeiENSGT00840000129680.
HOGENOMiHOG000165968.
HOVERGENiHBG052251.
InParanoidiQ12756.
KOiK10392.
OMAiVIRRRLC.
OrthoDBiEOG091G009V.
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.
IPR022164. Kinesin-like.
IPR027640. Kinesin-like_fam.
IPR022140. Kinesin-like_KIF1-typ.
IPR032405. Kinesin_assoc.
IPR019821. Kinesin_motor_CS.
IPR001752. Kinesin_motor_dom.
IPR027417. P-loop_NTPase.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR008984. SMAD_FHA_domain.
[Graphical view]
PANTHERiPTHR24115. PTHR24115. 2 hits.
PfamiPF12473. DUF3694. 1 hit.
PF00498. FHA. 1 hit.
PF12423. KIF1B. 1 hit.
PF00225. Kinesin. 1 hit.
PF16183. Kinesin_assoc. 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.
SSF50729. SSF50729. 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. AlignAdd to basket

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti104S → T in AAD02917 (Ref. 6) Curated1
Sequence conflicti595N → T in CAA62346 (PubMed:8661001).Curated1
Sequence conflicti777T → K in CAA62346 (PubMed:8661001).Curated1
Sequence conflicti1030D → E in AAA80352 (Ref. 8) Curated1
Sequence conflicti1034S → C in AAA80352 (Ref. 8) Curated1
Sequence conflicti1108P → L in BAG06726 (Ref. 2) Curated1
Sequence conflicti1108P → L in BAD92375 (Ref. 7) Curated1
Sequence conflicti1225S → A in CAA62346 (PubMed:8661001).Curated1
Sequence conflicti1232Q → H in CAA62346 (PubMed:8661001).Curated1
Sequence conflicti1245D → N in CAA62346 (PubMed:8661001).Curated1
Sequence conflicti1257V → I in CAA62346 (PubMed:8661001).Curated1
Sequence conflicti1684R → W in AAI11781 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07547146T → M.1 PublicationCorresponds to variant rs182395595dbSNPEnsembl.1
Natural variantiVAR_07547258S → L in MRD9. 1 PublicationCorresponds to variant rs672601362dbSNPEnsembl.1
Natural variantiVAR_06664999T → 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; disrupts microtubule motility. 3 PublicationsCorresponds to variant rs387906799dbSNPEnsembl.1
Natural variantiVAR_075473102G → D in MRD9. 1 PublicationCorresponds to variant rs672601363dbSNPEnsembl.1
Natural variantiVAR_075474136D → N.1 PublicationCorresponds to variant rs374178011dbSNPEnsembl.1
Natural variantiVAR_075475144V → F in MRD9. 1 PublicationCorresponds to variant rs672601364dbSNPEnsembl.1
Natural variantiVAR_075476167R → C in MRD9. 1 PublicationCorresponds to variant rs672601365dbSNPEnsembl.1
Natural variantiVAR_075477187T → I.1 PublicationCorresponds to variant rs370623844dbSNPEnsembl.1
Natural variantiVAR_075478202A → P in MRD9; reduces accumulation in distal regions of the neurites. 1 PublicationCorresponds to variant rs672601366dbSNPEnsembl.1
Natural variantiVAR_075479205V → M.1 PublicationCorresponds to variant rs371039513dbSNPEnsembl.1
Natural variantiVAR_075480215S → R in MRD9; reduces accumulation in distal regions of the neurites. 1 PublicationCorresponds to variant rs672601367dbSNPEnsembl.1
Natural variantiVAR_075481216R → C in MRD9; disrupts microtubule motility. 1 Publication1
Natural variantiVAR_075482216R → H in MRD9. 1 Publication1
Natural variantiVAR_075483216R → P in MRD9; reduces accumulation in distal regions of the neurites. 1 PublicationCorresponds to variant rs672601368dbSNPEnsembl.1
Natural variantiVAR_075484220V → I Polymorphism; no effect on microtubule motility. 1 PublicationCorresponds to variant rs201314877dbSNPEnsembl.1
Natural variantiVAR_075485233E → D.1 PublicationCorresponds to variant rs373882732dbSNPEnsembl.1
Natural variantiVAR_075486249L → Q in MRD9. 1 PublicationCorresponds to variant rs672601371dbSNPEnsembl.1
Natural variantiVAR_075487253E → K in MRD9; reduces accumulation in distal regions of the neurites; disrupts microtubule motility. 2 PublicationsCorresponds to variant rs672601369dbSNPEnsembl.1
Natural variantiVAR_066650255A → V in SPG30 and MRD9; unknown pathological significance; reduces accumulation in distal regions of the neurites; no effect on microtubule motility. 3 PublicationsCorresponds to variant rs387906798dbSNPEnsembl.1
Natural variantiVAR_075488316R → W in MRD9. 2 PublicationsCorresponds to variant rs672601370dbSNPEnsembl.1
Natural variantiVAR_075489336I → V.1 PublicationCorresponds to variant rs375423065dbSNPEnsembl.1
Natural variantiVAR_075490350R → G in MRD9; reduces accumulation in distal regions of the neurites. 1 PublicationCorresponds to variant rs387907259dbSNPEnsembl.1
Natural variantiVAR_075491355R → H.1 PublicationCorresponds to variant rs373042822dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_021853394M → TNTVPGGPKL in isoform 2 and isoform 3. 2 Publications1
Alternative sequenceiVSP_021854848R → RLVGSSAISGCNSYPLLNTC MSERMAALTPSPTFSSPDSD ATEPAEEQSVGEEEEEEEEE EDEEEEDLEDDVFPEHALCD GRDPFYDRPPLFS in isoform 2 and isoform 3. 2 Publications1
Alternative sequenceiVSP_0218551234D → DRVSLGNDT in isoform 2. 1 Publication1

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_001307634.1. NM_001320705.1.
NP_004312.2. NM_004321.7. [Q12756-1]
XP_016859880.1. XM_017004391.1. [Q12756-2]
UniGeneiHs.516802.

Genome annotation databases

EnsembliENST00000320389; ENSP00000322791; ENSG00000130294. [Q12756-1]
ENST00000498729; ENSP00000438388; ENSG00000130294. [Q12756-3]
GeneIDi547.
KEGGihsa:547.
UCSCiuc010fzk.3. human. [Q12756-1]

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.
CCDSiCCDS46561.1. [Q12756-1]
CCDS58757.1. [Q12756-3]
RefSeqiNP_001230937.1. NM_001244008.1. [Q12756-3]
NP_001307634.1. NM_001320705.1.
NP_004312.2. NM_004321.7. [Q12756-1]
XP_016859880.1. XM_017004391.1. [Q12756-2]
UniGeneiHs.516802.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107029. 44 interactors.
DIPiDIP-42405N.
IntActiQ12756. 3 interactors.
MINTiMINT-1173769.
STRINGi9606.ENSP00000322791.

PTM databases

iPTMnetiQ12756.
PhosphoSitePlusiQ12756.

Polymorphism and mutation databases

BioMutaiKIF1A.
DMDMi119364606.

Proteomic databases

EPDiQ12756.
MaxQBiQ12756.
PaxDbiQ12756.
PeptideAtlasiQ12756.
PRIDEiQ12756.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320389; ENSP00000322791; ENSG00000130294. [Q12756-1]
ENST00000498729; ENSP00000438388; ENSG00000130294. [Q12756-3]
GeneIDi547.
KEGGihsa:547.
UCSCiuc010fzk.3. human. [Q12756-1]

Organism-specific databases

CTDi547.
DisGeNETi547.
GeneCardsiKIF1A.
GeneReviewsiKIF1A.
HGNCiHGNC:888. KIF1A.
HPAiHPA005442.
MalaCardsiKIF1A.
MIMi601255. gene.
610357. phenotype.
614213. phenotype.
614255. phenotype.
neXtProtiNX_Q12756.
OpenTargetsiENSG00000130294.
Orphaneti178469. Autosomal dominant non-syndromic intellectual disability.
101010. Autosomal recessive spastic paraplegia type 30.
970. Hereditary sensory and autonomic neuropathy type 2.
PharmGKBiPA25180.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0245. Eukaryota.
COG5059. LUCA.
GeneTreeiENSGT00840000129680.
HOGENOMiHOG000165968.
HOVERGENiHBG052251.
InParanoidiQ12756.
KOiK10392.
OMAiVIRRRLC.
OrthoDBiEOG091G009V.
PhylomeDBiQ12756.
TreeFamiTF105221.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000130294-MONOMER.
ReactomeiR-HSA-6811434. COPI-dependent Golgi-to-ER retrograde traffic.
R-HSA-983189. Kinesins.

Miscellaneous databases

ChiTaRSiKIF1A. human.
GeneWikiiKIF1A.
GenomeRNAii547.
PROiQ12756.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130294.
ExpressionAtlasiQ12756. baseline and differential.
GenevisibleiQ12756. HS.

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.
IPR022164. Kinesin-like.
IPR027640. Kinesin-like_fam.
IPR022140. Kinesin-like_KIF1-typ.
IPR032405. Kinesin_assoc.
IPR019821. Kinesin_motor_CS.
IPR001752. Kinesin_motor_dom.
IPR027417. P-loop_NTPase.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR008984. SMAD_FHA_domain.
[Graphical view]
PANTHERiPTHR24115. PTHR24115. 2 hits.
PfamiPF12473. DUF3694. 1 hit.
PF00498. FHA. 1 hit.
PF12423. KIF1B. 1 hit.
PF00225. Kinesin. 1 hit.
PF16183. Kinesin_assoc. 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.
SSF50729. SSF50729. 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]
ProtoNetiSearch...

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 2, 2016
This is version 156 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.