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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KIF1B Gene

protein-coding GIFtS: 60
GCID: GC01P010270

kinesin family member 1B

(Previous symbols: CMT2A, CMT2)

Explore 26 diseases affiliated with
KIF1B via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Kinesin Family Member 1B¹ ²		CMT2A1² ⁵
CMT2A¹ ² ⁵		NBLST1² ⁵
CMT2¹ ²		Kinesin Superfamily Protein KIF1B²
HMSNII¹ ²		Kinesin-Like Protein KIF1B²
KLP¹ ²		KIAA1448³
KIAA0591¹ ³		Klp³

External Ids:	HGNC: 16636¹	Entrez Gene: 23095²	Ensembl: ENSG00000054523⁷	OMIM: 605995⁵	UniProtKB: O60333³

Export aliases for KIF1B gene to outside databases

Previous GC identifers: GC01P010232 GC01P010114 GC01P009880 GC01P009980 GC01P010205 GC01P010193 GC01P009426

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KIF1B:

This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene

cause Charcot-Marie-Tooth disease, type 2A1. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: KIF1B_HUMAN, O60333

Function: Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is

required for induction of neuronal apoptosis

Gene Wiki entry for KIF1B

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_021937.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KIF1B gene promoter:
Bach1 AML1a RREB-1 Nkx5-1 AP-2gamma Tal-1beta E47 AP-2beta AP-2alpha AP-2alphaA
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for KIF1B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIF1B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.2 Ensembl cytogenetic band: 1p36.22 HGNC cytogenetic band: 1p36.22

KIF1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIF1B gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P010270: view genomic region (about GC identifiers)

Start:	10,270,764 bp from pter	End:	10,441,661 bp from pter
Size:	170,898 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: KIF1B_HUMAN, O60333 (See protein sequence)

Recommended Name: Kinesin-like protein KIF1B

Size: 1816 amino acids; 204476 Da

Subunit: Interacts (via C-terminus end of the kinesin-motor domain) with CHP1; the interaction occurs in a

calcium-dependent manner (By similarity). Interacts with KBP

Subcellular location: Cytoplasmic vesicle (By similarity). Cytoplasm, cytoskeleton (By similarity). Mitochondrion.

Note=Colocalizes with synaptophysin at synaptic cytoplasmic transport vesicles in the neurites of hippocampal neurons

(By similarity)

Sequence caution: Sequence=AAH01415.1; Type=Erroneous initiation; Sequence=AAP35838.1; Type=Erroneous initiation;

Sequence=BAA25517.2; Type=Erroneous initiation; Sequence=BAA95972.2; Type=Erroneous initiation; Sequence=BAB69038.1;

Type=Erroneous initiation;

1 PDB 3D structure from and Proteopedia for KIF1B:

2EH0 (3D)

Secondary accessions: A6NFS8 A6NKQ4 Q4VXC3 Q4VXC4 Q4VXC5 Q4VXC6 Q96Q94 Q9BV80 Q9P280

Alternative splicing: 4 isoforms: O60333-1 O60333-2 O60333-3 O60333-4 (Contains a phosphoserine at position 1141. Contains a phosphoserine at position 663. Contains a phosphoserine at position 665)

Explore the universe of human proteins at neXtProt for KIF1B: NX_O60333

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O60333

KIF1B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_055889.2 NP_904325.2

ENSEMBL proteins:

ENSP00000366297 ENSP00000263934 ENSP00000366290 ENSP00000366287 ENSP00000366284

Human Recombinant Protein Products:

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	Uscn Proteins for KIF1B

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IEA	--
GO:0005874	microtubule	IEA	--
GO:0005875	microtubule associated complex	ISS	--
GO:0030659	cytoplasmic vesicle membrane	ISS	--
GO:0031410	cytoplasmic vesicle	ISS	--

KIF1B for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for KIF1B

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

KIF1B for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR008984 SMAD_FHA_domain

IPR022140 KIF1B

IPR022164 Kinesin-like

IPR001752 Kinesin_motor_dom

IPR001849 Pleckstrin_homology

Graphical View of Domain Structure for InterPro Entry O60333

ProtoNet protein and cluster: O60333

3 Blocks protein families:

IPB000253 Forkhead-associated (FHA)

IPB001752 Kinesin

IPB001849 Pleckstrin-like

UniProtKB/Swiss-Prot: KIF1B_HUMAN, O60333

Similarity: Belongs to the kinesin-like protein family. Unc-104 subfamily

Similarity: Contains 1 FHA domain

Similarity: Contains 1 kinesin-motor domain

Similarity: Contains 1 PH domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: KIF1B_HUMAN, O60333

Function: Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is

required for induction of neuronal apoptosis

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		Browse SwitchGear 3'UTR luciferase reporter plasmids

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Gene Editing
Products:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIF1B

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003777	microtubule motor activity	ISS	--
GO:0005515	protein binding	IPI	12097473
GO:0005524	ATP binding	IEA	--
GO:0005543	phospholipid binding	IEA	--
GO:0016887	ATPase activity	ISS	--

KIF1B for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for KIF1B:

Upregulation of Wnt/beta-caten

Animal Models:
Mouse knock-out Kif1b^tm1Noh for KIF1B
7 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Kif1b):

behavior/neurological	integument	mortality/aging	muscle	nervous system
respiratory system	skeleton

KIF1B for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cytoskeletal Signaling

Cytoskeletal Signaling

1.00

Reelin Pathway (Cajal-Retzius cells)

Reelin Pathway (Cajal-Retzius cells)

1.00

PI3K / Akt Signaling

PI3K / Akt Signaling

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KIF1B

Reelin Pathway (Cajal-Retzius cells)

2 Cell Signaling Technology (CST) Pathways for KIF1B

	Cytoskeletal Signaling
	PI3K / Akt Signaling

KIF1B for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KIF1B

STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

5/33 Interacting proteins for KIF1B (O60333^{1, 2, 3} ENSP00000263934⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 33)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CLASP1	Q7Z460²^,³, ENSP00000263710⁴	MINT-8080001 MINT-8080014 MINT-8080046 I2D: score=1 STRING: ENSP00000263710
DLG1	Q12959¹^,³, ENSP00000345731⁴	EBI-465669,EBI-357481 I2D: score=4 STRING: ENSP00000345731
DLG4	P78352¹^,³, ENSP00000293813⁴	EBI-465669,EBI-1965339 I2D: score=4 STRING: ENSP00000293813
YWHAG	P61981²^,³, ENSP00000306330⁴	MINT-50879 I2D: score=4 STRING: ENSP00000306330
CALM1	P62158³	I2D: score=1

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006200	ATP catabolic process	--	--
GO:0006915	apoptotic process	IEA	--
GO:0007018	microtubule-based movement	ISS	--
GO:0007270	neuron-neuron synaptic transmission	ISS	--
GO:0007274	neuromuscular synaptic transmission	ISS	--

KIF1B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KIF1B
Search CenterWatch for drugs/clinical trials and news about KIF1B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KIF1B gene (2 alternative transcripts):

NM_015074.3 NM_183416.3

Unigene Cluster for KIF1B:

Kinesin family member 1B

Hs.97858 [show with all ESTs]

Unigene Representative Sequence: NM_015074

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000377093(uc001aqv.4) ENST00000263934(uc009vmt.3) ENST00000377086(uc001aqw.4 uc001aqx.4)

ENST00000377083 ENST00000377081(uc001aqy.3 uc001aqz.3 uc001ara.3 uc001arb.3)

ENST00000495136 ENST00000497835 ENST00000465635 ENST00000483340 ENST00000470616

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		8/107 QIAGEN miScript miRNA Assays for microRNAs that regulate KIF1B (see all 107):
		hsa-miR-140-5p hsa-miR-3607-3p hsa-miR-188-5p hsa-miR-300 hsa-miR-15a hsa-miR-219-5p hsa-miR-3653 hsa-miR-632

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIF1B

Additional cDNA sequence:

AB011163.2 AB017133.1 AB040881.2 AB088210.1 AB088211.1 AB088212.1 AB088213.1 AF257176.1

AK022977.1 AK023184.1 AK025761.1 AK025771.1 AK054955.1 AK074279.1 AK297439.1 AK308121.1

AY043362.1 AY139835.1 BC001415.2 BC028114.1 BC040017.1 BC047632.1 BC063684.1 BC073883.1

BC094856.1 BC115395.2 BT007174.1

24/30 DOTS entries (see all 30):

DT.95137468 DT.433899 DT.100779632 DT.101981257 DT.313588 DT.121327456 DT.100672547 DT.100650654

DT.92062319 DT.455944 DT.100779629 DT.95173197 DT.121327304 DT.100779628 DT.95230521 DT.100746283

DT.86839678 DT.97836962 DT.100674860 DT.121327354 DT.121327384 DT.121327493 DT.310020 DT.91938154

24/1030 AceView cDNA sequences (see all 1030):

CA426227 BM984762 CA435914 BM746631 BQ071084 BX357482 BQ941055 AL596822

F03104 CA435943 BU689124 BQ641451 BM796697 CD742711 CD675303 CA430971

BM928239 T33713 BQ954866 AL138229 AV728170 BU543701 AA732867 CA307997

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KIF1B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTTATTTTG

About this image

KIF1B expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Zeugopod

Mesenchymal Condensate Cells

Bone, Cartilage

Bone

Brain

Limb

Limb

Diencephalic Ventricular Zone

Neural Tube

Mesencephalic Ventricular Zone

Neural Tube

Metencephalon

Neural Tube

Telencephalon

Neural Tube

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See KIF1B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIF1B

SOURCE GeneReport for Unigene cluster: Hs.97858

UniProtKB/Swiss-Prot: KIF1B_HUMAN, O60333

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

SABiosciences Custom PCR Arrays for KIF1B

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIF1B

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIF1B

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for KIF1B gene from 5/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	E1C889_CHICK⁶	Uncharacterized protein	96(a)	1 ↔ 1	21(3628285-3702555)
lizard (Anolis carolinensis)	Reptilia	KIF1B⁶	--	58(a)	1 ↔ 1	GL343709.1(17360-102694)
zebrafish (Danio rerio)	Actinopterygii	kif1b¹	kinesin family member 1B	76.65(n) 88.32(a)		369190 NM_194382.2 NP_919363.2
fruit fly (Drosophila melanogaster)	Insecta	unc-104³	cytoskeleton organization and biogenesis kinesin more	50(a) (best of 2)		--
worm (Caenorhabditis elegans)	Secernentea	klp-6³	--	40(a)		III(5102738-5108133) --

ENSEMBL Gene Tree for KIF1B (if available)
TreeFam Gene Tree for KIF1B (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for KIF1B gene

KIF18A² KIF1C² KIF16B² KIF19² KIF14² KIF22² KIF13B² KIF1A²

KIF13A² KIF12² KIF18B²

7 SIMAP similar genes for KIF1B using alignment to 1 protein entry: KIF1B_HUMAN:

KIF1Bbeta KIF1C KIF1A KIF3B KIF3A KIF5C

KIF21A

KIF1B for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for KIF1B
PGOHUM00000244536

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121908162^1,2	C,F,	other	10384896(+)	`AACCAC/TTGTGA`	2	T I	mis¹		2		NA EU	5875
rs121908163^1,2	C,	other	10406001(+)	`TGGAGC/TCTACA`	2	P S	mis¹		0	--	--	--	--
rs138228221^1,2		--	10268812(+)	`ACCACA/GGTATT`	2	--	us2k¹		0	--	--	--	--
rs61784579^1,2	C,	--	10268852(+)	`TGGTGT/ACTACT`	2	--	us2k¹		5		NA CSA WA EA	362
rs187937469^1,2		--	10268873(+)	`TGAGTG/TCCTCT`	2	--	us2k¹		0	--	--	--	--
rs72864187^1,2	C,	--	10268887(+)	`TTAACC/GTACTA`	2	--	us2k¹		4		WA NA EA	360
rs192308414^1,2		--	10268910(+)	`ACTCTC/TAGCCG`	2	--	us2k¹		0	--	--	--	--
rs117391752^1,2	C,F,	--	10268967(+)	`CTTGAC/TTATGG`	2	--	us2k¹		1		EA	120
rs113017285^1,2	C,	--	10268999(+)	`TGGCCG/-GGCGC`	2	--	us2k¹		1		CSA	2
rs185196570^1,2		--	10269003(+)	`CGGGCA/GCGGTG`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KIF1B (10270764 - 10441661 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 16 variations for KIF1B
15 CNVs: 74329 84044 66807 48065 1535 74328 0994 0993 84043 3281 22833 31599 9870 37940 97289
1 Indel: 41355
Human Gene Mutation Database (HGMD): KIF1B

Locus Specific Mutation Databases (LSDB): KIF1B

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

KIF1B for disorders           About GeneDecksing

OMIM gene information: 605995
OMIM disorders: 118210  171300  256700
UniProtKB/Swiss-Prot: KIF1B_HUMAN, O60333

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

Defects in KIF1B are the cause of susceptibility to neuroblastoma type 1 (NBLST1) [MIM:256700]. A common

neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the

adrenal medulla and the sympathetic nervous system

Defects in KIF1B are a cause of susceptibility to pheochromocytoma (PCC) [MIM:171300]. A

catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal

symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be

persistent or intermittent

20/26 diseases for KIF1B (see all 26): About MalaCards

charcot-marie-tooth disease charcot-marie-tooth disease type 2 charcot-marie-tooth disease, type 2a1 charcot-marie-tooth neuropathy

charcot-marie-tooth neuropathy type 2 tooth disease charcot-marie-tooth neuropathy type 2a charcot-marie-tooth disease type 2a

motor peripheral neuropathy peripheral neuropathy neuropathy axonal neuropathy

neuroblastoma, susceptibility hereditary neuropathies neuroblastoma polyneuropathy

multiple sclerosis hepatitis b pheochromocytoma hepatocellular carcinoma

2 diseases from the University of Copenhagen DISEASES database for KIF1B:

Charcot-Marie-Tooth disease Axonal neuropathy

3 Novoseek disease relationships for KIF1B gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
charcot-marie-tooth disease	81.7	3	11389829 (1), 11835375 (1), 8406488 (1)
tumors	0	2	10762626 (1), 17475218 (1)
cancer	0	1	17475218 (1)

GeneTests: KIF1B

Charcot-Marie-Tooth Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy Type 2A

Genetic Association Database (GAD): KIF1B
Human Genome Epidemiology (HuGE) Navigator: KIF1B (12 documents)

Export disorders for KIF1B gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for KIF1B gene, integrated from 9 sources (see all 79):
(articles sorted by number of sources associating them with KIF1B)

Utopia: connect your pdf to the dynamic
world of online information

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B-beta. (PubMed id 11389829)^{1, 2, 3, 9} Zhao C.... Hirokawa N. (2001)
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. (PubMed id 10762626)^{1, 2, 3, 9} Nagai M.... Nakagawara A. (2000)
Genomic structure and mutational analysis of the human KIF1Balpha gene located at 1p36.2 in neuroblastoma. (PubMed id 12888911)^{1, 2, 9} Chen Y.Y....Hayashi Y. (2003)
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PubMed id 11835375)^{1, 4, 9} Boerkoel C.F.... Lupski J.R. (2002)
The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. (PubMed id 18334619)^{1, 2} Schlisio S....Kaelin W.G. (2008)
The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein. (PubMed id 16225668)^{1, 2} Wozniak M.J.... Lammers R. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Genomic structure and mutational analysis of the human KIF1B gene which is homozygously deleted in neuroblastoma at chromosome 1p36.2. (PubMed id 11526494)^{1, 2} Yang H.W.... Hayashi Y. (2001)
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. (PubMed id 10819331)^{1, 2} Nagase T.... Ohara O. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 23095	HGNC: 16636	AceView: PGDandKIF1B	Ensembl:ENSG00000054523	euGenes: HUgn23095
ECgene: KIF1B	H-InvDB: KIF1B

(According to HUGE)
About This Section

HUGE: KIAA0591 KIAA1448

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for KIF1B	Pharmacogenomics, SNPs, Pathways
Inherited peripheral neuropathies mutation db	http://www.molgen.ua.ac.be/CMTMutations/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KIF1B

Intellectual Property for KIF1B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KIF1B gene:
Search GeneIP for patents involving KIF1B

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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kinesin family member 1B

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