Q12756 (KIF1A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	KIF1A
Synonyms:	ATSV, C2orf20

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1690 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Motor for anterograde axonal transport of synaptic vesicle precursors By similarity.
Subunit structure	Monomer. Interacts with PPFIA1 and PPFIA4 By similarity.
Subcellular location	Cytoplasm › cytoskeleton. Note: Expressed in distal regions of neurites. Ref.12
Tissue specificity	Expressed in neurons. Ref.12
Involvement in disease	Spastic paraplegia autosomal recessive 30 (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. Ref.15 Hereditary sensory neuropathy 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. Ref.11 Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12
Sequence similarities	Belongs to the kinesin-like protein family. Unc-104 subfamily. Contains 1 FHA domain. Contains 1 kinesin-motor domain. Contains 1 PH domain.
Sequence caution	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. The sequence BAE06111.1 differs from that shown. Reason: Probable cloning artifact leading to C-terminal exon with non-canonical splice junction.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton Microtubule
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Hereditary spastic paraplegia Mental retardation Neurodegeneration Neuropathy
Domain	Coiled coil
Ligand	ATP-binding Nucleotide-binding
Molecular function	Motor protein
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anterograde axon cargo transport Traceable author statement PubMed 7539720. Source: ProtInc cell death Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from direct assay. Source: HPA microtubule Inferred from electronic annotation. Source: UniProtKB-KW microtubule associated complex Inferred from electronic annotation. Source: InterPro nucleus Inferred from direct assay. Source: HPA
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW microtubule motor activity Inferred from electronic annotation. Source: InterPro motor activity Traceable author statement PubMed 7539720. Source: ProtInc phospholipid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q12756-1)

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.

Isoform 2 (identifier: Q12756-2)

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

Isoform 3 (identifier: Q12756-3)

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.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1690

1690

Kinesin-like protein KIF1A

PRO_0000125405

Regions

Domain

1 – 361

361

Kinesin-motor

Domain

516 – 572

57

FHA

Domain

1575 – 1673

99

PH

Nucleotide binding

97 – 104

8

ATP By similarity

Coiled coil

366 – 383

18

Potential

Coiled coil

429 – 462

34

Potential

Coiled coil

622 – 681

60

Potential

Coiled coil

801 – 822

22

Potential

Amino acid modifications

Modified residue

416

1

Phosphoserine Ref.14

Modified residue

418

1

Phosphoserine Ref.14

Modified residue

419

1

Phosphoserine Ref.14

Modified residue

937

1

Phosphoserine Ref.14

Modified residue

1310

1

Phosphoserine Ref.14

Modified residue

1548

1

Phosphoserine Ref.14

Natural variations

Alternative sequence

394

1

M → TNTVPGGPKL in isoform 2 and isoform 3.

VSP_021853

Alternative sequence

848

1

R → RLVGSSAISGCNSYPLLNTC MSERMAALTPSPTFSSPDSD ATEPAEEQSVGEEEEEEEEE EDEEEEDLEDDVFPEHALCD GRDPFYDRPPLFS in isoform 2 and isoform 3.

VSP_021854

Alternative sequence

1234

1

D → DRVSLGNDT in isoform 2.

VSP_021855

Natural variant

99

1

T → 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. Ref.12

VAR_066649

Natural variant

255

1

A → V in SPG30. Ref.15

VAR_066650

Experimental info

Sequence conflict

104

1

S → T in AAD02917. Ref.6

Sequence conflict

595

1

N → T in CAA62346. Ref.1

Sequence conflict

777

1

T → K in CAA62346. Ref.1

Sequence conflict

1030

1

D → E in AAA80352. Ref.8

Sequence conflict

1034

1

S → C in AAA80352. Ref.8

Sequence conflict

1108

1

P → L in BAG06726. Ref.2

Sequence conflict

1108

1

P → L in BAD92375. Ref.7

Sequence conflict

1225

1

S → A in CAA62346. Ref.1

Sequence conflict

1232

1

Q → H in CAA62346. Ref.1

Sequence conflict

1245

1

D → N in CAA62346. Ref.1

Sequence conflict

1257

1

V → I in CAA62346. Ref.1

Sequence conflict

1684

1

R → W in AAI11781. Ref.4

Secondary structure

1

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1690

Helix Strand Turn

Details...

Helix

458 – 471

14

Beta strand

474 – 476

3

Beta strand

480 – 485

6

Beta strand

489 – 491

3

Beta strand

493 – 496

4

Beta strand

507 – 510

4

Beta strand

513 – 519

7

Beta strand

521 – 525

5

Beta strand

528 – 530

3

Beta strand

538 – 546

9

Beta strand

550 – 552

3

Beta strand

554 – 559

6

Beta strand

565 – 567

3

Beta strand

583 – 586

4

Turn

587 – 589

3

Beta strand

590 – 595

6

Helix

597 – 604

8

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 12, 2006. Version 2. Checksum: FB3CA33B7060AF60	FASTA	1,690	191,064
	10 20 30 40 50 60 MAGASVKVAV RVRPFNSREM SRDSKCIIQM SGSTTTIVNP KQPKETPKSF SFDYSYWSHT 70 80 90 100 110 120 SPEDINYASQ KQVYRDIGEE MLQHAFEGYN VCIFAYGQTG AGKSYTMMGK QEKDQQGIIP 130 140 150 160 170 180 QLCEDLFSRI NDTTNDNMSY SVEVSYMEIY CERVRDLLNP KNKGNLRVRE HPLLGPYVED 190 200 210 220 230 240 LSKLAVTSYN DIQDLMDSGN KARTVAATNM NETSSRSHAV FNIIFTQKRH DAETNITTEK 250 260 270 280 290 300 VSKISLVDLA GSERADSTGA KGTRLKEGAN INKSLTTLGK VISALAEMDS GPNKNKKKKK 310 320 330 340 350 360 TDFIPYRDSV LTWLLRENLG GNSRTAMVAA LSPADINYDE TLSTLRYADR AKQIRCNAVI 370 380 390 400 410 420 NEDPNNKLIR ELKDEVTRLR DLLYAQGLGD ITDMTNALVG MSPSSSLSAL SSRAASVSSL 430 440 450 460 470 480 HERILFAPGS EEAIERLKET EKIIAELNET WEEKLRRTEA IRMEREALLA EMGVAMREDG 490 500 510 520 530 540 GTLGVFSPKK TPHLVNLNED PLMSECLLYY IKDGITRVGR EDGERRQDIV LSGHFIKEEH 550 560 570 580 590 600 CVFRSDSRGG SEAVVTLEPC EGADTYVNGK KVTEPSILRS GNRIIMGKSH VFRFNHPEQA 610 620 630 640 650 660 RQERERTPCA ETPAEPVDWA FAQRELLEKQ GIDMKQEMEQ RLQELEDQYR REREEATYLL 670 680 690 700 710 720 EQQRLDYESK LEALQKQMDS RYYPEVNEEE EEPEDEVQWT ERECELALWA FRKWKWYQFT 730 740 750 760 770 780 SLRDLLWGNA IFLKEANAIS VELKKKVQFQ FVLLTDTLYS PLPPDLLPPE AAKDRETRPF 790 800 810 820 830 840 PRTIVAVEVQ DQKNGATHYW TLEKLRQRLD LMREMYDRAA EVPSSVIEDC DNVVTGGDPF 850 860 870 880 890 900 YDRFPWFRLV GRAFVYLSNL LYPVPLVHRV AIVSEKGEVK GFLRVAVQAI SADEEAPDYG 910 920 930 940 950 960 SGVRQSGTAK ISFDDQHFEK FQSESCPVVG MSRSGTSQEE LRIVEGQGQG ADVGPSADEV 970 980 990 1000 1010 1020 NNNTCSAVPP EGLLLDSSEK AALDGPLDAA LDHLRLGNTF TFRVTVLQAS SISAEYADIF 1030 1040 1050 1060 1070 1080 CQFNFIHRHD EAFSTEPLKN TGRGPPLGFY HVQNIAVEVT KSFIEYIKSQ PIVFEVFGHY 1090 1100 1110 1120 1130 1140 QQHPFPPLCK DVLSPLRPSR RHFPRVMPLS KPVPATKLST LTRPCPGPCH CKYDLLVYFE 1150 1160 1170 1180 1190 1200 ICELEANGDY IPAVVDHRGG MPCMGTFLLH QGIQRRITVT LLHETGSHIR WKEVRELVVG 1210 1220 1230 1240 1250 1260 RIRNTPETDE SLIDPNILSL NILSSGYIHP AQDDRTFYQF EAAWDSSMHN SLLLNRVTPY 1270 1280 1290 1300 1310 1320 REKIYMTLSA YIEMENCTQP AVVTKDFCMV FYSRDAKLPA SRSIRNLFGS GSLRASESNR 1330 1340 1350 1360 1370 1380 VTGVYELSLC HVADAGSPGM QRRRRRVLDT SVAYVRGEEN LAGWRPRSDS LILDHQWELE 1390 1400 1410 1420 1430 1440 KLSLLQEVEK TRHYLLLREK LETAQRPVPE ALSPAFSEDS ESHGSSSASS PLSAEGRPSP 1450 1460 1470 1480 1490 1500 LEAPNERQRE LAVKCLRLLT HTFNREYTHS HVCVSASESK LSEMSVTLLR DPSMSPLGVA 1510 1520 1530 1540 1550 1560 TLTPSSTCPS LVEGRYGATD LRTPQPCSRP ASPEPELLPE ADSKKLPSPA RATETDKEPQ 1570 1580 1590 1600 1610 1620 RLLVPDIQEI RVSPIVSKKG YLHFLEPHTS GWARRFVVVR RPYAYMYNSD KDTVERFVLN 1630 1640 1650 1660 1670 1680 LATAQVEYSE DQQAMLKTPN TFAVCTEHRG ILLQAASDKD MHDWLYAFNP LLAGTIRSKL 1690 SRRRSAQMRV
	Isoform 2 [UniParc]. Checksum: 2A9CDACAF2E1395B	FASTA	1,799	202,902
	10 20 30 40 50 60 MAGASVKVAV RVRPFNSREM SRDSKCIIQM SGSTTTIVNP KQPKETPKSF SFDYSYWSHT 70 80 90 100 110 120 SPEDINYASQ KQVYRDIGEE MLQHAFEGYN VCIFAYGQTG AGKSYTMMGK QEKDQQGIIP 130 140 150 160 170 180 QLCEDLFSRI NDTTNDNMSY SVEVSYMEIY CERVRDLLNP KNKGNLRVRE HPLLGPYVED 190 200 210 220 230 240 LSKLAVTSYN DIQDLMDSGN KARTVAATNM NETSSRSHAV FNIIFTQKRH DAETNITTEK 250 260 270 280 290 300 VSKISLVDLA GSERADSTGA KGTRLKEGAN INKSLTTLGK VISALAEMDS GPNKNKKKKK 310 320 330 340 350 360 TDFIPYRDSV LTWLLRENLG GNSRTAMVAA LSPADINYDE TLSTLRYADR AKQIRCNAVI 370 380 390 400 410 420 NEDPNNKLIR ELKDEVTRLR DLLYAQGLGD ITDTNTVPGG PKLTNALVGM SPSSSLSALS 430 440 450 460 470 480 SRAASVSSLH ERILFAPGSE EAIERLKETE KIIAELNETW EEKLRRTEAI RMEREALLAE 490 500 510 520 530 540 MGVAMREDGG TLGVFSPKKT PHLVNLNEDP LMSECLLYYI KDGITRVGRE DGERRQDIVL 550 560 570 580 590 600 SGHFIKEEHC VFRSDSRGGS EAVVTLEPCE GADTYVNGKK VTEPSILRSG NRIIMGKSHV 610 620 630 640 650 660 FRFNHPEQAR QERERTPCAE TPAEPVDWAF AQRELLEKQG IDMKQEMEQR LQELEDQYRR 670 680 690 700 710 720 EREEATYLLE QQRLDYESKL EALQKQMDSR YYPEVNEEEE EPEDEVQWTE RECELALWAF 730 740 750 760 770 780 RKWKWYQFTS LRDLLWGNAI FLKEANAISV ELKKKVQFQF VLLTDTLYSP LPPDLLPPEA 790 800 810 820 830 840 AKDRETRPFP RTIVAVEVQD QKNGATHYWT LEKLRQRLDL MREMYDRAAE VPSSVIEDCD 850 860 870 880 890 900 NVVTGGDPFY DRFPWFRLVG SSAISGCNSY PLLNTCMSER MAALTPSPTF SSPDSDATEP 910 920 930 940 950 960 AEEQSVGEEE EEEEEEEDEE EEDLEDDVFP EHALCDGRDP FYDRPPLFSL VGRAFVYLSN 970 980 990 1000 1010 1020 LLYPVPLVHR VAIVSEKGEV KGFLRVAVQA ISADEEAPDY GSGVRQSGTA KISFDDQHFE 1030 1040 1050 1060 1070 1080 KFQSESCPVV GMSRSGTSQE ELRIVEGQGQ GADVGPSADE VNNNTCSAVP PEGLLLDSSE 1090 1100 1110 1120 1130 1140 KAALDGPLDA ALDHLRLGNT FTFRVTVLQA SSISAEYADI FCQFNFIHRH DEAFSTEPLK 1150 1160 1170 1180 1190 1200 NTGRGPPLGF YHVQNIAVEV TKSFIEYIKS QPIVFEVFGH YQQHPFPPLC KDVLSPLRPS 1210 1220 1230 1240 1250 1260 RRHFPRVMPL SKPVPATKLS TLTRPCPGPC HCKYDLLVYF EICELEANGD YIPAVVDHRG 1270 1280 1290 1300 1310 1320 GMPCMGTFLL HQGIQRRITV TLLHETGSHI RWKEVRELVV GRIRNTPETD ESLIDPNILS 1330 1340 1350 1360 1370 1380 LNILSSGYIH PAQDDRVSLG NDTRTFYQFE AAWDSSMHNS LLLNRVTPYR EKIYMTLSAY 1390 1400 1410 1420 1430 1440 IEMENCTQPA VVTKDFCMVF YSRDAKLPAS RSIRNLFGSG SLRASESNRV TGVYELSLCH 1450 1460 1470 1480 1490 1500 VADAGSPGMQ RRRRRVLDTS VAYVRGEENL AGWRPRSDSL ILDHQWELEK LSLLQEVEKT 1510 1520 1530 1540 1550 1560 RHYLLLREKL ETAQRPVPEA LSPAFSEDSE SHGSSSASSP LSAEGRPSPL EAPNERQREL 1570 1580 1590 1600 1610 1620 AVKCLRLLTH TFNREYTHSH VCVSASESKL SEMSVTLLRD PSMSPLGVAT LTPSSTCPSL 1630 1640 1650 1660 1670 1680 VEGRYGATDL RTPQPCSRPA SPEPELLPEA DSKKLPSPAR ATETDKEPQR LLVPDIQEIR 1690 1700 1710 1720 1730 1740 VSPIVSKKGY LHFLEPHTSG WARRFVVVRR PYAYMYNSDK DTVERFVLNL ATAQVEYSED 1750 1760 1770 1780 1790 QQAMLKTPNT FAVCTEHRGI LLQAASDKDM HDWLYAFNPL LAGTIRSKLS RRRSAQMRV
	Isoform 3 [UniParc]. Checksum: 704ED93D10A615FE	FASTA	1,791	202,059
	10 20 30 40 50 60 MAGASVKVAV RVRPFNSREM SRDSKCIIQM SGSTTTIVNP KQPKETPKSF SFDYSYWSHT 70 80 90 100 110 120 SPEDINYASQ KQVYRDIGEE MLQHAFEGYN VCIFAYGQTG AGKSYTMMGK QEKDQQGIIP 130 140 150 160 170 180 QLCEDLFSRI NDTTNDNMSY SVEVSYMEIY CERVRDLLNP KNKGNLRVRE HPLLGPYVED 190 200 210 220 230 240 LSKLAVTSYN DIQDLMDSGN KARTVAATNM NETSSRSHAV FNIIFTQKRH DAETNITTEK 250 260 270 280 290 300 VSKISLVDLA GSERADSTGA KGTRLKEGAN INKSLTTLGK VISALAEMDS GPNKNKKKKK 310 320 330 340 350 360 TDFIPYRDSV LTWLLRENLG GNSRTAMVAA LSPADINYDE TLSTLRYADR AKQIRCNAVI 370 380 390 400 410 420 NEDPNNKLIR ELKDEVTRLR DLLYAQGLGD ITDTNTVPGG PKLTNALVGM SPSSSLSALS 430 440 450 460 470 480 SRAASVSSLH ERILFAPGSE EAIERLKETE KIIAELNETW EEKLRRTEAI RMEREALLAE 490 500 510 520 530 540 MGVAMREDGG TLGVFSPKKT PHLVNLNEDP LMSECLLYYI KDGITRVGRE DGERRQDIVL 550 560 570 580 590 600 SGHFIKEEHC VFRSDSRGGS EAVVTLEPCE GADTYVNGKK VTEPSILRSG NRIIMGKSHV 610 620 630 640 650 660 FRFNHPEQAR QERERTPCAE TPAEPVDWAF AQRELLEKQG IDMKQEMEQR LQELEDQYRR 670 680 690 700 710 720 EREEATYLLE QQRLDYESKL EALQKQMDSR YYPEVNEEEE EPEDEVQWTE RECELALWAF 730 740 750 760 770 780 RKWKWYQFTS LRDLLWGNAI FLKEANAISV ELKKKVQFQF VLLTDTLYSP LPPDLLPPEA 790 800 810 820 830 840 AKDRETRPFP RTIVAVEVQD QKNGATHYWT LEKLRQRLDL MREMYDRAAE VPSSVIEDCD 850 860 870 880 890 900 NVVTGGDPFY DRFPWFRLVG SSAISGCNSY PLLNTCMSER MAALTPSPTF SSPDSDATEP 910 920 930 940 950 960 AEEQSVGEEE EEEEEEEDEE EEDLEDDVFP EHALCDGRDP FYDRPPLFSL VGRAFVYLSN 970 980 990 1000 1010 1020 LLYPVPLVHR VAIVSEKGEV KGFLRVAVQA ISADEEAPDY GSGVRQSGTA KISFDDQHFE 1030 1040 1050 1060 1070 1080 KFQSESCPVV GMSRSGTSQE ELRIVEGQGQ GADVGPSADE VNNNTCSAVP PEGLLLDSSE 1090 1100 1110 1120 1130 1140 KAALDGPLDA ALDHLRLGNT FTFRVTVLQA SSISAEYADI FCQFNFIHRH DEAFSTEPLK 1150 1160 1170 1180 1190 1200 NTGRGPPLGF YHVQNIAVEV TKSFIEYIKS QPIVFEVFGH YQQHPFPPLC KDVLSPLRPS 1210 1220 1230 1240 1250 1260 RRHFPRVMPL SKPVPATKLS TLTRPCPGPC HCKYDLLVYF EICELEANGD YIPAVVDHRG 1270 1280 1290 1300 1310 1320 GMPCMGTFLL HQGIQRRITV TLLHETGSHI RWKEVRELVV GRIRNTPETD ESLIDPNILS 1330 1340 1350 1360 1370 1380 LNILSSGYIH PAQDDRTFYQ FEAAWDSSMH NSLLLNRVTP YREKIYMTLS AYIEMENCTQ 1390 1400 1410 1420 1430 1440 PAVVTKDFCM VFYSRDAKLP ASRSIRNLFG SGSLRASESN RVTGVYELSL CHVADAGSPG 1450 1460 1470 1480 1490 1500 MQRRRRRVLD TSVAYVRGEE NLAGWRPRSD SLILDHQWEL EKLSLLQEVE KTRHYLLLRE 1510 1520 1530 1540 1550 1560 KLETAQRPVP EALSPAFSED SESHGSSSAS SPLSAEGRPS PLEAPNERQR ELAVKCLRLL 1570 1580 1590 1600 1610 1620 THTFNREYTH SHVCVSASES KLSEMSVTLL RDPSMSPLGV ATLTPSSTCP SLVEGRYGAT 1630 1640 1650 1660 1670 1680 DLRTPQPCSR PASPEPELLP EADSKKLPSP ARATETDKEP QRLLVPDIQE IRVSPIVSKK 1690 1700 1710 1720 1730 1740 GYLHFLEPHT SGWARRFVVV RRPYAYMYNS DKDTVERFVL NLATAQVEYS EDQQAMLKTP 1750 1760 1770 1780 1790 NTFAVCTEHR GILLQAASDK DMHDWLYAFN PLLAGTIRSK LSRRRSAQMR V

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1318-1690 (ISOFORM 1). Tissue: Amygdala.
[11]	"KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2." Riviere J.B., Ramalingam S., Lavastre V., Shekarabi M., Holbert S., Lafontaine J., Srour M., Merner N., Rochefort D., Hince P., Gaudet R., Mes-Masson A.M., Baets J., Houlden H., Brais B., Nicholson G.A., Van Esch H., Nafissi S. , De Jonghe P., Reilly M.M., Timmerman V., Dion P.A., Rouleau G.A. Am. J. Hum. Genet. 89:219-230(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN HSN2C.
[12]	"Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability." Hamdan F.F., Gauthier J., Araki Y., Lin D.T., Yoshizawa Y., Higashi K., Park A.R., Spiegelman D., Dobrzeniecka S., Piton A., Tomitori H., Daoud H., Massicotte C., Henrion E., Diallo O., Shekarabi M., Marineau C., Shevell M. , Maranda B., Mitchell G., Nadeau A., D'Anjou G., Vanasse M., Srour M., Lafreniere R.G., Drapeau P., Lacaille J.C., Kim E., Lee J.R., Igarashi K., Huganir R.L., Rouleau G.A., Michaud J.L. Am. J. Hum. Genet. 88:306-316(2011) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANT MRD9 MET-99, CHARACTERIZATION OF VARIANT MRD9 MET-99.
[13]	Erratum Hamdan F.F., Gauthier J., Araki Y., Lin D.T., Yoshizawa Y., Higashi K., Park A.R., Spiegelman D., Dobrzeniecka S., Piton A., Tomitori H., Daoud H., Massicotte C., Henrion E., Diallo O., Shekarabi M., Marineau C., Shevell M. , Maranda B., Mitchell G., Nadeau A., D'Anjou G., Vanasse M., Srour M., Lafreniere R.G., Drapeau P., Lacaille J.C., Kim E., Lee J.R., Igarashi K., Huganir R.L., Rouleau G.A., Michaud J.L. Am. J. Hum. Genet. 88:516-516(2011)
[14]	"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, MASS SPECTROMETRY.
[15]	"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.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00604711.
IPI00815672.
IPI01015315.

RefSeq

NP_001230937.1. NM_001244008.1.
NP_004312.2. NM_004321.6.

UniGene

Hs.516802.

3D structure databases

PDBe
RCSB PDB
PDBj

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	[»]

ProteinModelPortal

Q12756.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-42405N.

IntAct

Q12756. 1 interaction.

MINT

MINT-1173769.

PTM databases

PhosphoSite

Q12756.

Polymorphism databases

DMDM

119364606.

Proteomic databases

PaxDb

Q12756.

PRIDE

Q12756.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000320389; ENSP00000322791; ENSG00000130294.
ENST00000498729; ENSP00000438388; ENSG00000130294.

GeneID

547.

KEGG

hsa:547.

UCSC

uc002vzy.3. human.
uc002vzz.2. human.

Organism-specific databases

CTD

547.

GeneCards

GC02M241653.

HGNC

HGNC:888. KIF1A.

HPA

HPA004831.
HPA005442.

MIM

601255. gene.
610357. phenotype.
614213. phenotype.
614255. phenotype.

neXtProt

NX_Q12756.

Orphanet

178469. Autosomal dominant nonsyndromic intellectual deficit.
101010. Autosomal recessive spastic paraplegia type 30.
970. Hereditary sensory and autonomic neuropathy type 2.

PharmGKB

PA25180.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG5059.

HOVERGEN

HBG052251.

InParanoid

Q12756.

KO

K10392.

OrthoDB

EOG447FSB.

Gene expression databases

ArrayExpress

Q12756.

Bgee

Q12756.

Genevestigator

Q12756.

GermOnline

ENSG00000130294. Homo sapiens.

Family and domain databases

Gene3D

2.30.29.30. 1 hit.
2.60.200.20. 1 hit.
3.40.850.10. 1 hit.

InterPro

IPR000253. FHA_dom.
IPR022140. KIF1B.
IPR022164. Kinesin-like.
IPR019821. Kinesin_motor_CS.
IPR001752. Kinesin_motor_dom.
IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR008984. SMAD_FHA_domain.
[Graphical view]

Pfam

PF12473. DUF3694. 1 hit.
PF00498. FHA. 1 hit.
PF12423. KIF1B. 1 hit.
PF00225. Kinesin. 1 hit.
PF00169. PH. 1 hit.
[Graphical view]

PRINTS

PR00380. KINESINHEAVY.

SMART

SM00240. FHA. 1 hit.
SM00129. KISc. 1 hit.
SM00233. PH. 1 hit.
[Graphical view]

SUPFAM

SSF49879. SMAD_FHA. 1 hit.

PROSITE

PS50006. FHA_DOMAIN. 1 hit.
PS00411. KINESIN_MOTOR_DOMAIN1. 1 hit.
PS50067. KINESIN_MOTOR_DOMAIN2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

KIF1A. human.

GenomeRNAi

547.

NextBio

2265.

SOURCE

Search...

Entry information

Entry name

KIF1A_HUMAN

Accession

Primary (citable) accession number: Q12756
Secondary accession number(s): B0I1S5 , F5H045, O95068, Q13355, Q14752, Q2NKJ6, Q4LE42, Q53T78, Q59GH1, Q63Z40, Q6P1R9, Q7KZ57

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	December 12, 2006
Last modified:	May 1, 2013
This is version 117 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.