Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q12756 (KIF1A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1690 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Cytoplasmcytoskeleton. Note: Expressed in distal regions of neurites. Ref.12

Tissue specificity

Expressed in neurons. Ref.12

Involvement in disease

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. Ref.15

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. Ref.11

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. Ref.12

Sequence similarities

Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 16901690Kinesin-like protein KIF1A
PRO_0000125405

Regions

Domain5 – 354350Kinesin motor
Domain516 – 57257FHA
Domain1575 – 167399PH
Nucleotide binding97 – 1048ATP By similarity
Coiled coil366 – 38318 Potential
Coiled coil429 – 46234 Potential
Coiled coil622 – 68160 Potential
Coiled coil801 – 82222 Potential

Amino acid modifications

Modified residue4161Phosphoserine Ref.14
Modified residue4181Phosphoserine Ref.14
Modified residue4191Phosphoserine Ref.14
Modified residue9371Phosphoserine Ref.14
Modified residue13101Phosphoserine Ref.14
Modified residue15481Phosphoserine Ref.14

Natural variations

Alternative sequence3941M → TNTVPGGPKL in isoform 2 and isoform 3.
VSP_021853
Alternative sequence8481R → RLVGSSAISGCNSYPLLNTC MSERMAALTPSPTFSSPDSD ATEPAEEQSVGEEEEEEEEE EDEEEEDLEDDVFPEHALCD GRDPFYDRPPLFS in isoform 2 and isoform 3.
VSP_021854
Alternative sequence12341D → DRVSLGNDT in isoform 2.
VSP_021855
Natural variant991T → 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 variant2551A → V in SPG30. Ref.15
VAR_066650

Experimental info

Sequence conflict1041S → T in AAD02917. Ref.6
Sequence conflict5951N → T in CAA62346. Ref.1
Sequence conflict7771T → K in CAA62346. Ref.1
Sequence conflict10301D → E in AAA80352. Ref.8
Sequence conflict10341S → C in AAA80352. Ref.8
Sequence conflict11081P → L in BAG06726. Ref.2
Sequence conflict11081P → L in BAD92375. Ref.7
Sequence conflict12251S → A in CAA62346. Ref.1
Sequence conflict12321Q → H in CAA62346. Ref.1
Sequence conflict12451D → N in CAA62346. Ref.1
Sequence conflict12571V → I in CAA62346. Ref.1
Sequence conflict16841R → W in AAI11781. Ref.4

Secondary structure

................................. 1690
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 12, 2006. Version 2.
Checksum: FB3CA33B7060AF60

FASTA1,690191,064
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 2A9CDACAF2E1395B
Show »

FASTA1,799202,902
Isoform 3 [UniParc].

Checksum: 704ED93D10A615FE
Show »

FASTA1,791202,059

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[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.
CCDSCCDS46561.1. [Q12756-1]
CCDS58757.1. [Q12756-3]
RefSeqNP_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]
UniGeneHs.516802.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4EGXX-ray2.51A/B/C/D430-607[»]
4EJQX-ray1.89A/B/C/D/E/F/G/H458-607[»]
ProteinModelPortalQ12756.
SMRQ12756. Positions 4-393, 430-605.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107029. 9 interactions.
DIPDIP-42405N.
IntActQ12756. 2 interactions.
MINTMINT-1173769.

PTM databases

PhosphoSiteQ12756.

Polymorphism databases

DMDM119364606.

Proteomic databases

MaxQBQ12756.
PaxDbQ12756.
PRIDEQ12756.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000320389; ENSP00000322791; ENSG00000130294. [Q12756-1]
ENST00000498729; ENSP00000438388; ENSG00000130294. [Q12756-3]
GeneID547.
KEGGhsa:547.
UCSCuc002vzz.2. human. [Q12756-2]
uc031rsb.1. human. [Q12756-1]

Organism-specific databases

CTD547.
GeneCardsGC02M241653.
GeneReviewsKIF1A.
HGNCHGNC:888. KIF1A.
HPAHPA004831.
HPA005442.
MIM601255. gene.
610357. phenotype.
614213. phenotype.
614255. phenotype.
neXtProtNX_Q12756.
Orphanet178469. Autosomal dominant nonsyndromic intellectual disability.
101010. Autosomal recessive spastic paraplegia type 30.
970. Hereditary sensory and autonomic neuropathy type 2.
PharmGKBPA25180.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5059.
HOVERGENHBG052251.
InParanoidQ12756.
KOK10392.
OMADRTFYQF.
OrthoDBEOG77Q4VS.
PhylomeDBQ12756.
TreeFamTF105221.

Gene expression databases

ArrayExpressQ12756.
BgeeQ12756.
GenevestigatorQ12756.

Family and domain databases

Gene3D2.30.29.30. 1 hit.
2.60.200.20. 1 hit.
3.40.850.10. 1 hit.
InterProIPR000253. FHA_dom.
IPR022140. KIF1B.
IPR022164. Kinesin-like.
IPR027640. Kinesin-like_fam.
IPR019821. Kinesin_motor_CS.
IPR001752. Kinesin_motor_dom.
IPR027417. P-loop_NTPase.
IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR008984. SMAD_FHA_domain.
[Graphical view]
PANTHERPTHR24115. PTHR24115. 1 hit.
PfamPF12473. DUF3694. 1 hit.
PF00498. FHA. 1 hit.
PF12423. KIF1B. 1 hit.
PF00225. Kinesin. 1 hit.
PF00169. PH. 1 hit.
[Graphical view]
PRINTSPR00380. KINESINHEAVY.
SMARTSM00240. FHA. 1 hit.
SM00129. KISc. 1 hit.
SM00233. PH. 1 hit.
[Graphical view]
SUPFAMSSF49879. SSF49879. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEPS50006. FHA_DOMAIN. 1 hit.
PS00411. KINESIN_MOTOR_1. 1 hit.
PS50067. KINESIN_MOTOR_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSKIF1A. human.
GeneWikiKIF1A.
GenomeRNAi547.
NextBio2265.
PROQ12756.
SOURCESearch...

Entry information

Entry nameKIF1A_HUMAN
AccessionPrimary (citable) accession number: Q12756
Secondary accession number(s): B0I1S5 expand/collapse secondary AC list , 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: July 9, 2014
This is version 130 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM