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Reviewed, UniProtKB/Swiss-Prot O60333 (KIF1B_HUMAN)

Last modified November 25, 2008. Version 94. Feed History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Kinesin-like protein KIF1B
      Short name=Klp
Gene names
Name: KIF1B
Synonyms: KIAA0591, KIAA1448
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1816 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility.

Subunit structure

Interacts with KBP.

Subcellular location

Cytoplasmic vesicleBy similarity. CytoplasmcytoskeletonBy similarity. Mitochondrion.

Tissue specificity

Isoform 3 is abundant in the skeletal muscle. It is also expressed in fetal brain, lung and kidney, and adult heart, placenta, testis, ovary and small intestine. Isoform 2 is abundant in the brain and also expressed in fetal heart, lung, liver and kidney, and adult skeletal muscle, placenta, liver, kidney, heart, spleen, thymus, prostate, testis, ovary, small intestine, colon and pancreas.

Involvement in disease

Defects in KIF1B are the cause of Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]. CMT2A1 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

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.

Binary interactions

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O60333-1)

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: O60333-2)

Also known as: Beta;

The sequence of this isoform differs from the canonical sequence as follows:
     289-294: Missing.
     394-434: IDPLIDDYSGSGSKYLKDFQNNKHRYLLASENQRPGHFSTA → T
Isoform 3 (identifier: O60333-3)

Also known as: Alpha;

The sequence of this isoform differs from the canonical sequence as follows:
     289-294: Missing.
     394-434: IDPLIDDYSGSGSKYLKDFQNNKHRYLLASENQRPGHFSTA → T
     707-1196: YESKLQALQK...KPIVFEVFGH → ADSDSGDDSD...NLKAGRETTV
     1197-1816: Missing.
Isoform 4 (identifier: O60333-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1804-1816: SKLSRRCPSQSKY → PGHLASEIIREDKSVSFSCQ

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 18161816Kinesin-like protein KIF1B
PRO_0000125407

Regions

Domain1 – 361361Kinesin-motor
Domain556 – 61257FHA
Domain1702 – 179998PH
Nucleotide binding97 – 1048ATP By similarity
Region270 – 35081Interaction with KBP
Coiled coil365 – 38622 Potential
Coiled coil470 – 50233 Potential
Coiled coil668 – 73770 Potential
Coiled coil841 – 86929 Potential

Amino acid modifications

Modified residue10571Phosphoserine
Modified residue14541Phosphoserine
Modified residue14871Phosphoserine

Natural variations

Alternative sequence289 – 2946Missing in isoform 2 and isoform 3.
VSP_002858
Alternative sequence394 – 43441IDPLI…HFSTA → T in isoform 2 and isoform 3.
VSP_002859
Alternative sequence707 – 1196490YESKL…EVFGH → ADSDSGDDSDKRSCEESWKL ITSLREKLPPSKLQTIVKKC GLPSSGKKREPIKMYQIPQR RRLSKDSKWVTISDLKIQAV KEICYEVALNDFRHSRQEIE ALAIVKMKELCAMYGKKDPN ERDSWRAVARDVWDTVGVGD EKIEDVMATGKGSTDVDDLK VHIDKLEDILQEVKKQNNMK DEEIKVLRNKMLKMEKVLPL IGSQEQKSPGSHKAKEPVGA GVSSTSENNVSKGDNGELAK EERVSQLMNGDPAFRRGRLR WMRQEQIRFKNLQQQEITKQ LRRQNVPHRFIPPENRKPRF PFKSNPKHRNSWSPGTHIII TEDEVIELRIPKDDEARKGN KEESQEKGGKGAFKDPQFPW GSQGMRSQDHIQVSKQHINN QQQPPQLRWRSNSLNNGQPK STRCQASASAESLNSHSGHP TADVQTFQAKRHIHQHRQSY CNYNTGGQLEGNAATSYQKQ TDKPSHCSQFVTPPRMRRQF SAPNLKAGRETTV in isoform 3.
VSP_002860
Alternative sequence1197 – 1816620Missing in isoform 3.
VSP_002861
Alternative sequence1804 – 181613SKLSR…SQSKY → PGHLASEIIREDKSVSFSCQ in isoform 4.
VSP_009381
Natural variant981Q → L in CMT2A1.
VAR_011515

Experimental info

Sequence conflict871E → G in BAA25517. Ref.7
Sequence conflict129 – 1313KIN → TNH in AAK49332. Ref.3
Sequence conflict129 – 1313KIN → TNH in AAK85155. Ref.4
Sequence conflict129 – 1313KIN → TNH in AAN17742. Ref.5
Sequence conflict1701E → D in AAK49332. Ref.3
Sequence conflict1701E → D in AAK85155. Ref.4
Sequence conflict1701E → D in AAN17742. Ref.5
Sequence conflict1741L → R in AAK49332. Ref.3
Sequence conflict1741L → R in AAK85155. Ref.4
Sequence conflict1741L → R in AAN17742. Ref.5
Sequence conflict219 – 2213AVF → VVY in AAK49332. Ref.3
Sequence conflict219 – 2213AVF → VVY in AAK85155. Ref.4
Sequence conflict219 – 2213AVF → VVY in AAN17742. Ref.5
Sequence conflict235 – 2395NLSTE → ILATV in AAK49332. Ref.3
Sequence conflict235 – 2395NLSTE → ILATV in AAK85155. Ref.4
Sequence conflict235 – 2395NLSTE → ILATV in AAN17742. Ref.5
Sequence conflict2441I → T in AAK49332. Ref.3
Sequence conflict2441I → T in AAK85155. Ref.4
Sequence conflict2441I → T in AAN17742. Ref.5
Sequence conflict2531E → D in AAK49332. Ref.3
Sequence conflict2531E → D in AAK85155. Ref.4
Sequence conflict2531E → D in AAN17742. Ref.5
Sequence conflict2561D → A in AAK49332. Ref.3
Sequence conflict2561D → A in AAK85155. Ref.4
Sequence conflict2561D → A in AAN17742. Ref.5
Sequence conflict2701N → I in AAK49332. Ref.3
Sequence conflict2701N → I in AAK85155. Ref.4
Sequence conflict2701N → I in AAN17742. Ref.5
Sequence conflict3631D → G in BAB69038. Ref.2

Sequences

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

Last modified October 17, 2006. Version 5.
Checksum: AD62F0515978C783

FASTA1,816204,476
        10         20         30         40         50         60 
MSGASVKVAV RVRPFNSRET SKESKCIIQM QGNSTSIINP KNPKEAPKSF SFDYSYWSHT 

        70         80         90        100        110        120 
SPEDPCFASQ NRVYNDIGKE MLLHAFEGYN VCIFAYGQTG AGKSYTMMGK QEESQAGIIP 

       130        140        150        160        170        180 
QLCEELFEKI NDNCNEEMSY SVEVSYMEIY CERVRDLLNP KNKGNLRVRE HPLLGPYVED 

       190        200        210        220        230        240 
LSKLAVTSYT DIADLMDAGN KARTVAATNM NETSSRSHAV FTIVFTQKKH DNETNLSTEK 

       250        260        270        280        290        300 
VSKISLVDLA GSERADSTGA KGTRLKEGAN INKSLTTLGK VISALAEVDN CTSKSKKKKK 

       310        320        330        340        350        360 
TDFIPYRDSV LTWLLRENLG GNSRTAMVAA LSPADINYDE TLSTLRYADR AKQIKCNAVI 

       370        380        390        400        410        420 
NEDPNAKLVR ELKEEVTRLK DLLRAQGLGD IIDIDPLIDD YSGSGSKYLK DFQNNKHRYL 

       430        440        450        460        470        480 
LASENQRPGH FSTASMGSLT SSPSSCSLSS QVGLTSVTSI QERIMSTPGG EEAIERLKES 

       490        500        510        520        530        540 
EKIIAELNET WEEKLRKTEA IRMEREALLA EMGVAIREDG GTLGVFSPKK TPHLVNLNED 

       550        560        570        580        590        600 
PLMSECLLYY IKDGITRVGQ ADAERRQDIV LSGAHIKEEH CIFRSERSNS GEVIVTLEPC 

       610        620        630        640        650        660 
ERSETYVNGK RVSQPVQLRS GNRIIMGKNH VFRFNHPEQA RAEREKTPSA ETPSEPVDWT 

       670        680        690        700        710        720 
FAQRELLEKQ GIDMKQEMEK RLQEMEILYK KEKEEADLLL EQQRLDYESK LQALQKQVET 

       730        740        750        760        770        780 
RSLAAETTEE EEEEEEVPWT QHEFELAQWA FRKWKSHQFT SLRDLLWGNA VYLKEANAIS 

       790        800        810        820        830        840 
VELKKKVQFQ FVLLTDTLYS PLPPELLPTE MEKTHEDRPF PRTVVAVEVQ DLKNGATHYW 

       850        860        870        880        890        900 
SLEKLKQRLD LMREMYDRAG EMASSAQDES ETTVTGSDPF YDRFHWFKLV GSSPIFHGCV 

       910        920        930        940        950        960 
NERLADRTPS PTFSTADSDI TELADEQQDE MEDFDDEAFV DDAGSDAGTE EGSDLFSDGH 

       970        980        990       1000       1010       1020 
DPFYDRSPWF ILVGRAFVYL SNLLYPVPLI HRVAIVSEKG EVRGFLRVAV QAIAADEEAP 

      1030       1040       1050       1060       1070       1080 
DYGSGIRQSG TAKISFDNEY FNQSDFSSVA MTRSGLSLEE LRIVEGQGQS SEVITPPEEI 

      1090       1100       1110       1120       1130       1140 
SRINDLDLKS STLLDGKMVM EGFSEEIGNH LKLGSAFTFR VTVLQASGIL PEYADIFCQF 

      1150       1160       1170       1180       1190       1200 
NFLHRHDEAF STEPLKNNGR GSPLAFYHVQ NIAVEITESF VDYIKTKPIV FEVFGHYQQH 

      1210       1220       1230       1240       1250       1260 
PLHLQGQELN SPPQPCRRFF PPPMPLSKPV PATKLNTMSK TSLGQSMSKY DLLVWFEISE 

      1270       1280       1290       1300       1310       1320 
LEPTGEYIPA VVDHTAGLPC QGTFLLHQGI QRRITVTIIH EKGSELHWKD VRELVVGRIR 

      1330       1340       1350       1360       1370       1380 
NKPEVDEAAV DAILSLNIIS AKYLKSSHNS SRTFYRFEAV WDSSLHNSLL LNRVTPYGEK 

      1390       1400       1410       1420       1430       1440 
IYMTLSAYLE LDHCIQPAVI TKDVCMVFYS RDAKISPPRS LRSLFGSGYS KSPDSNRVTG 

      1450       1460       1470       1480       1490       1500 
IYELSLCKMS DTGSPGMQRR RRKILDTSVA YVRGEENLAG WRPRGDSLIL EHQWELEKLE 

      1510       1520       1530       1540       1550       1560 
LLHEVEKTRH FLLLRERLGD SIPKSLSDSL SPSLSSGTLS TSTSISSQIS TTTFESAITP 

      1570       1580       1590       1600       1610       1620 
SESSGYDSGD IESLVDREKE LATKCLQLLT HTFNREFSQV HGSVSDCKLS DISPIGRDPS 

      1630       1640       1650       1660       1670       1680 
ESSFSSATLT PSSTCPSLVD SRSNSLDQKT PEANSRASSP CPEFEQFQIV PAVETPYLAR 

      1690       1700       1710       1720       1730       1740 
AGKNEFLNLV PDIEEIRPSS VVSKKGYLHF KEPLYSNWAK HFVVVRRPYV FIYNSDKDPV 

      1750       1760       1770       1780       1790       1800 
ERGIINLSTA QVEYSEDQQA MVKTPNTFAV CTKHRGVLLQ ALNDKDMNDW LYAFNPLLAG 

      1810 
TIRSKLSRRC PSQSKY 

« Hide

Isoform 2 (Beta) [UniParc].

Checksum: 8AE6BB2665AF702C
Show »

1,770199,263
Isoform 3 (Alpha) [UniParc].

Checksum: 6F0D8846CD283811
Show »

1,153130,363
Isoform 4 [UniParc].

Checksum: A53CAAD5693880E7
Show »

1,823205,140

References

« Hide 'large scale' references
[1]"DNA encoding a kinesin-like protein (hklp) comprising biallelic markers."
Bougueleret L., Dufaure-Gare I., Grel P.
Patent number WO0063375, 26-OCT-2000
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
[2]"Identification of the full-length KIAA0591 gene encoding a novel kinesin-related protein which is mapped to the neuroblastoma suppressor gene locus at 1p36.2."
Nagai M., Ichimiya S., Ozaki T., Seki N., Mihara M., Furuta S., Ohira M., Tomioka N., Nomura N., Sakiyama S., Kubo O., Takakura K., Hori T., Nakagawara A.
Int. J. Oncol. 16:907-916(2000) [PubMed: 10762626] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), TISSUE SPECIFICITY.
Tissue: Substantia nigra.
[3]"Genomic structure and mutational analysis of the human KIF1B gene which is homozygously deleted in neuroblastoma at chromosome 1p36.2."
Yang H.W., Chen Y.Z., Takita J., Soeda E., Piao H.Y., Hayashi Y.
Oncogene 20:5075-5083(2001) [PubMed: 11526494] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2), TISSUE SPECIFICITY.
[4]"Identification of the human ortholog of mouse Kif1B, a kinesin superfamily motor protein."
Park M., Shin H., Lee Y.M., Moon E., Choi W.<