Reviewed, UniProtKB/Swiss-Prot O60333 (KIF1B_HUMAN)

Names and origin

Protein names

Recommended name:
    Kinesin-like protein KIF1B
      Short name=Klp

Gene names

Name:	KIF1B
Synonyms:	KIAA0591, KIAA1448

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1816 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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. Ref.13
Subcellular location	Cytoplasmic vesicle By similarity. Cytoplasm › cytoskeleton By 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. Ref.2 Ref.3 Ref.5
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. Ref.17
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.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoplasmic vesicle Cytoskeleton Microtubule Mitochondrion
Coding sequence diversity	Alternative splicing
Disease	Charcot-Marie-Tooth disease Disease mutation Neuropathy
Domain	Coiled coil
Ligand	ATP-binding Nucleotide-binding
Molecular function	Motor protein
PTM	Phosphoprotein
Technical term	3D-structure
Gene Ontology (GO)
Biological process	anterograde axon cargo transport Inferred from sequence or structural similarity. Source: UniProtKB nerve-nerve synaptic transmission Inferred from sequence or structural similarity. Source: UniProtKB neuromuscular synaptic transmission Inferred from sequence or structural similarity. Source: UniProtKB
Cellular component	cytoplasmic vesicle membrane Inferred from sequence or structural similarity. Source: UniProtKB microtubule Inferred from electronic annotation. Source: UniProtKB-KW microtubule associated complex Inferred from sequence or structural similarity. Source: UniProtKB mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATPase activity Inferred from sequence or structural similarity. Source: UniProtKB kinesin binding Traceable author statement. Source: UniProtKB microtubule motor activity Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
DLG1	Q12959	1	EBI-465669,EBI-357481
DLG4	P78352	1	EBI-465669,EBI-80389
MAGI1	Q96QZ7	1	EBI-465669,EBI-924464

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1816	1816	Kinesin-like protein KIF1B		PRO_0000125407
Regions
	Domain	1 – 361	361	Kinesin-motor
	Domain	556 – 612	57	FHA
	Domain	1702 – 1799	98	PH
	Nucleotide binding	97 – 104	8	ATP By similarity
	Region	270 – 350	81	Interaction with KBP
	Coiled coil	365 – 386	22	Potential
	Coiled coil	470 – 502	33	Potential
	Coiled coil	668 – 737	70	Potential
	Coiled coil	841 – 869	29	Potential
Amino acid modifications
	Modified residue	1057	1	Phosphoserine Ref.12 Ref.15
	Modified residue	1454	1	Phosphoserine Ref.12
	Modified residue	1487	1	Phosphoserine Ref.15 Ref.14
Natural variations
	Alternative sequence	289 – 294	6	Missing in isoform 2 and isoform 3.		VSP_002858
	Alternative sequence	394 – 434	41	IDPLI…HFSTA → T in isoform 2 and isoform 3.		VSP_002859
	Alternative sequence	707 – 1196	490	YESKL…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 sequence	1197 – 1816	620	Missing in isoform 3.		VSP_002861
	Alternative sequence	1804 – 1816	13	SKLSR…SQSKY → PGHLASEIIREDKSVSFSCQ in isoform 4.		VSP_009381
	Natural variant	98	1	Q → L in CMT2A1. Ref.17		VAR_011515
Experimental info
	Sequence conflict	87	1	E → G in BAA25517. Ref.7
	Sequence conflict	129 – 131	3	KIN → TNH in AAK49332. Ref.3
	Sequence conflict	129 – 131	3	KIN → TNH in AAK85155. Ref.4
	Sequence conflict	129 – 131	3	KIN → TNH in AAN17742. Ref.5
	Sequence conflict	170	1	E → D in AAK49332. Ref.3
	Sequence conflict	170	1	E → D in AAK85155. Ref.4
	Sequence conflict	170	1	E → D in AAN17742. Ref.5
	Sequence conflict	174	1	L → R in AAK49332. Ref.3
	Sequence conflict	174	1	L → R in AAK85155. Ref.4
	Sequence conflict	174	1	L → R in AAN17742. Ref.5
	Sequence conflict	219 – 221	3	AVF → VVY in AAK49332. Ref.3
	Sequence conflict	219 – 221	3	AVF → VVY in AAK85155. Ref.4
	Sequence conflict	219 – 221	3	AVF → VVY in AAN17742. Ref.5
	Sequence conflict	235 – 239	5	NLSTE → ILATV in AAK49332. Ref.3
	Sequence conflict	235 – 239	5	NLSTE → ILATV in AAK85155. Ref.4
	Sequence conflict	235 – 239	5	NLSTE → ILATV in AAN17742. Ref.5
	Sequence conflict	244	1	I → T in AAK49332. Ref.3
	Sequence conflict	244	1	I → T in AAK85155. Ref.4
	Sequence conflict	244	1	I → T in AAN17742. Ref.5
	Sequence conflict	253	1	E → D in AAK49332. Ref.3
	Sequence conflict	253	1	E → D in AAK85155. Ref.4
	Sequence conflict	253	1	E → D in AAN17742. Ref.5
	Sequence conflict	256	1	D → A in AAK49332. Ref.3
	Sequence conflict	256	1	D → A in AAK85155. Ref.4
	Sequence conflict	256	1	D → A in AAN17742. Ref.5
	Sequence conflict	270	1	N → I in AAK49332. Ref.3
	Sequence conflict	270	1	N → I in AAK85155. Ref.4
	Sequence conflict	270	1	N → I in AAN17742. Ref.5
	Sequence conflict	363	1	D → G in BAB69038. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 17, 2006. Version 5. Checksum: AD62F0515978C783	FASTA	1,816	204,476
	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
	Isoform 2 (Beta). Checksum: 8AE6BB2665AF702C	FASTA	1,770	199,263
	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 VISALAEVSK KKKKTDFIPY 310 320 330 340 350 360 RDSVLTWLLR ENLGGNSRTA MVAALSPADI NYDETLSTLR YADRAKQIKC NAVINEDPNA 370 380 390 400 410 420 KLVRELKEEV TRLKDLLRAQ GLGDIIDTSM GSLTSSPSSC SLSSQVGLTS VTSIQERIMS 430 440 450 460 470 480 TPGGEEAIER LKESEKIIAE LNETWEEKLR KTEAIRMERE ALLAEMGVAI REDGGTLGVF 490 500 510 520 530 540 SPKKTPHLVN LNEDPLMSEC LLYYIKDGIT RVGQADAERR QDIVLSGAHI KEEHCIFRSE 550 560 570 580 590 600 RSNSGEVIVT LEPCERSETY VNGKRVSQPV QLRSGNRIIM GKNHVFRFNH PEQARAEREK 610 620 630 640 650 660 TPSAETPSEP VDWTFAQREL LEKQGIDMKQ EMEKRLQEME ILYKKEKEEA DLLLEQQRLD 670 680 690 700 710 720 YESKLQALQK QVETRSLAAE TTEEEEEEEE VPWTQHEFEL AQWAFRKWKS HQFTSLRDLL 730 740 750 760 770 780 WGNAVYLKEA NAISVELKKK VQFQFVLLTD TLYSPLPPEL LPTEMEKTHE DRPFPRTVVA 790 800 810 820 830 840 VEVQDLKNGA THYWSLEKLK QRLDLMREMY DRAGEMASSA QDESETTVTG SDPFYDRFHW 850 860 870 880 890 900 FKLVGSSPIF HGCVNERLAD RTPSPTFSTA DSDITELADE QQDEMEDFDD EAFVDDAGSD 910 920 930 940 950 960 AGTEEGSDLF SDGHDPFYDR SPWFILVGRA FVYLSNLLYP VPLIHRVAIV SEKGEVRGFL 970 980 990 1000 1010 1020 RVAVQAIAAD EEAPDYGSGI RQSGTAKISF DNEYFNQSDF SSVAMTRSGL SLEELRIVEG 1030 1040 1050 1060 1070 1080 QGQSSEVITP PEEISRINDL DLKSSTLLDG KMVMEGFSEE IGNHLKLGSA FTFRVTVLQA 1090 1100 1110 1120 1130 1140 SGILPEYADI FCQFNFLHRH DEAFSTEPLK NNGRGSPLAF YHVQNIAVEI TESFVDYIKT 1150 1160 1170 1180 1190 1200 KPIVFEVFGH YQQHPLHLQG QELNSPPQPC RRFFPPPMPL SKPVPATKLN TMSKTSLGQS 1210 1220 1230 1240 1250 1260 MSKYDLLVWF EISELEPTGE YIPAVVDHTA GLPCQGTFLL HQGIQRRITV TIIHEKGSEL 1270 1280 1290 1300 1310 1320 HWKDVRELVV GRIRNKPEVD EAAVDAILSL NIISAKYLKS SHNSSRTFYR FEAVWDSSLH 1330 1340 1350 1360 1370 1380 NSLLLNRVTP YGEKIYMTLS AYLELDHCIQ PAVITKDVCM VFYSRDAKIS PPRSLRSLFG 1390 1400 1410 1420 1430 1440 SGYSKSPDSN RVTGIYELSL CKMSDTGSPG MQRRRRKILD TSVAYVRGEE NLAGWRPRGD 1450 1460 1470 1480 1490 1500 SLILEHQWEL EKLELLHEVE KTRHFLLLRE RLGDSIPKSL SDSLSPSLSS GTLSTSTSIS 1510 1520 1530 1540 1550 1560 SQISTTTFES AITPSESSGY DSGDIESLVD REKELATKCL QLLTHTFNRE FSQVHGSVSD 1570 1580 1590 1600 1610 1620 CKLSDISPIG RDPSESSFSS ATLTPSSTCP SLVDSRSNSL DQKTPEANSR ASSPCPEFEQ 1630 1640 1650 1660 1670 1680 FQIVPAVETP YLARAGKNEF LNLVPDIEEI RPSSVVSKKG YLHFKEPLYS NWAKHFVVVR 1690 1700 1710 1720 1730 1740 RPYVFIYNSD KDPVERGIIN LSTAQVEYSE DQQAMVKTPN TFAVCTKHRG VLLQALNDKD 1750 1760 1770 MNDWLYAFNP LLAGTIRSKL SRRCPSQSKY
	Isoform 3 (Alpha). Checksum: 6F0D8846CD283811	FASTA	1,153	130,363
	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 VISALAEVSK KKKKTDFIPY 310 320 330 340 350 360 RDSVLTWLLR ENLGGNSRTA MVAALSPADI NYDETLSTLR YADRAKQIKC NAVINEDPNA 370 380 390 400 410 420 KLVRELKEEV TRLKDLLRAQ GLGDIIDTSM GSLTSSPSSC SLSSQVGLTS VTSIQERIMS 430 440 450 460 470 480 TPGGEEAIER LKESEKIIAE LNETWEEKLR KTEAIRMERE ALLAEMGVAI REDGGTLGVF 490 500 510 520 530 540 SPKKTPHLVN LNEDPLMSEC LLYYIKDGIT RVGQADAERR QDIVLSGAHI KEEHCIFRSE 550 560 570 580 590 600 RSNSGEVIVT LEPCERSETY VNGKRVSQPV QLRSGNRIIM GKNHVFRFNH PEQARAEREK 610 620 630 640 650 660 TPSAETPSEP VDWTFAQREL LEKQGIDMKQ EMEKRLQEME ILYKKEKEEA DLLLEQQRLD 670 680 690 700 710 720 ADSDSGDDSD KRSCEESWKL ITSLREKLPP SKLQTIVKKC GLPSSGKKRE PIKMYQIPQR 730 740 750 760 770 780 RRLSKDSKWV TISDLKIQAV KEICYEVALN DFRHSRQEIE ALAIVKMKEL CAMYGKKDPN 790 800 810 820 830 840 ERDSWRAVAR DVWDTVGVGD EKIEDVMATG KGSTDVDDLK VHIDKLEDIL QEVKKQNNMK 850 860 870 880 890 900 DEEIKVLRNK MLKMEKVLPL IGSQEQKSPG SHKAKEPVGA GVSSTSENNV SKGDNGELAK 910 920 930 940 950 960 EERVSQLMNG DPAFRRGRLR WMRQEQIRFK NLQQQEITKQ LRRQNVPHRF IPPENRKPRF 970 980 990 1000 1010 1020 PFKSNPKHRN SWSPGTHIII TEDEVIELRI PKDDEARKGN KEESQEKGGK GAFKDPQFPW 1030 1040 1050 1060 1070 1080 GSQGMRSQDH IQVSKQHINN QQQPPQLRWR SNSLNNGQPK STRCQASASA ESLNSHSGHP 1090 1100 1110 1120 1130 1140 TADVQTFQAK RHIHQHRQSY CNYNTGGQLE GNAATSYQKQ TDKPSHCSQF VTPPRMRRQF 1150 SAPNLKAGRE TTV
	Isoform 4. Checksum: A53CAAD5693880E7	FASTA	1,823	205,140
	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 1820 TIRPGHLASE IIREDKSVSF SCQ

References

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[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., Kim W. Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[5]	"Genomic structure and mutational analysis of the human KIF1Balpha gene located at 1p36.2 in neuroblastoma." Chen Y.Y., Takita J., Chen Y.Z., Yang H.W., Hanada R., Yamamoto K., Hayashi Y. Int. J. Oncol. 23:737-744(2003) [PubMed: 12888911] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY. Tissue: Neuroblastoma.
[6]	"Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:31-39(1998) [PubMed: 9628581] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[7]	"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:143-150(2000) [PubMed: 10819331] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain.
[8]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1238-1816 (ISOFORMS 1/2). Tissue: Placenta.
[10]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1238-1816 (ISOFORMS 1/2).
[11]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1449-1816 (ISOFORMS 1/2).
[12]	"Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1057 AND SER-1454, MASS SPECTROMETRY. Tissue: Epithelium.
[13]	"The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein." Wozniak M.J., Melzer M., Dorner C., Haring H.U., Lammers R. BMC Cell Biol. 6:35-35(2005) [PubMed: 16225668] [Abstract] Cited for: INTERACTION WITH KBP, SUBCELLULAR LOCATION.
[14]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1487, MASS SPECTROMETRY. Tissue: Epithelium.
[15]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1057 AND SER-1487, MASS SPECTROMETRY.
[16]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[17]	"Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B-beta." Zhao C., Takita J., Tanaka Y., Setou M., Nakagawa T., Takeda S., Yang H.W., Terada S., Nakata T., Takei Y., Saito M., Tsuji S., Hayashi Y., Hirokawa N. Cell 105:587-597(2001) [PubMed: 11389829] [Abstract] Cited for: VARIANT CMT2A1 LEU-98.
+	Additional computationally mapped references.

Web resources

Inherited peripheral neuropathies mutation db

GeneReviews

Cross-references

Sequence databases

EMBLGenBankDDBJ

AX039604 Unassigned DNA. Translation: CAC16629.1.
AB017133 mRNA. Translation: BAB69038.1. Different initiation.
AF257176 mRNA. Translation: AAK49332.1.
AY043362 mRNA. Translation: AAK85155.1.
AY139835 mRNA. Translation: AAN17742.1.
AB011163 mRNA. Translation: BAA25517.2. Different initiation.
AB040881 mRNA. Translation: BAA95972.2. Different initiation.
AL139424, AL358013 Genomic DNA. Translation: CAI95753.1.
AL358013, AL139424 Genomic DNA. Translation: CAI95219.1.
AL358013 Genomic DNA. Translation: CAI95222.1.
BC001415 mRNA. Translation: AAH01415.1. Different initiation.
BC115395 mRNA. Translation: AAI15396.1.
BT007174 mRNA. Translation: AAP35838.1. Different initiation.
AK022977 mRNA. Translation: BAB14341.1.

IPI

IPI00029011.
IPI00216252.
IPI00397383.
IPI00411763.

RefSeq

NP_055889.2.
NP_904325.2.

UniGene

Hs.97858

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2EH0	NMR	-	A	531-647	[»]

SMR

O60333. Positions 4-353.

ModBase

Search...

Protein-protein interaction databases

IntAct

O60333. 11 interactions.

PTM databases

PhosphoSite

O60333.

Proteomic databases

PRIDE

O60333.

Genome annotation databases

Ensembl

ENSG00000054523. Homo sapiens. [Contig view]

GeneID

23095.

KEGG

hsa:23095.

Organism-specific databases

GeneCards

GC01P010205.

HGNC

HGNC:16636. KIF1B.

HPA

CAB015177.

MIM

118210. phenotype.
605995. gene.

Orphanet

64746. Autosomal dominant Charcot-Marie-Tooth disease, type 2.
99946. Autosomal dominant Charcot-Marie-Tooth disease, type 2A1.

PharmGKB

PA38176.

HUGE

Search...
Search...

GenAtlas

Search...

Phylogenomic databases

HOVERGEN

O60333.

OMA

O60333. THIIITD.

Gene expression databases

ArrayExpress

O60333.

Bgee

O60333.

CleanEx

HS_KIF1B.

GermOnline

ENSG00000054523. Homo sapiens.

Family and domain databases

InterPro

IPR000253. FHA.
IPR001752. Kinesin_motor.
IPR019821. Kinesin_motor_CS.
IPR011993. PH_type.
IPR001849. Pleckstrin_homology.
[Graphical view]

Gene3D

G3DSA:3.40.850.10. kinesin_motor. 1 hit.
G3DSA:2.30.29.30. PH_type. 1 hit.

Pfam

PF00498. FHA. 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]

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 Resources

SOURCE

Search...

Entry information

Entry name

KIF1B_HUMAN

Accession

Primary (citable) accession number: O60333
Secondary accession number(s): A6NKQ4 , Q4VXC3, Q4VXC6, Q96Q94, Q9BV80, Q9P280

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	October 17, 2006
Last modified:	June 16, 2009
This is version 101 of the entry and version 5 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)