1. Gene
  2. KIF1B - kinesin family member 1B Gene

KIF1B - kinesin family member 1B Gene

Homo sapiens

Also known as KLP; CMT2; CMT2A; CMT2A1; HMSNII; NBLST1

Gene ID: 23095 | Gene type: protein coding

About KIF1B

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:10,210,570-10,381,603 (from NCBI)

This gene has 22 transcripts (splice variants), 201 orthologues, 41 paralogues and is associated with 5 phenotypes. Broad expression in brain (RPKM 28.3), testis (RPKM 7.8) and 23 other tissues.

Summary

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]

KIF1B Products(5)

mRNA Protein Name
NM_001365951.3 NP_001352880.1 kinesin-like protein KIF1B isoform c
NM_001365952.1 NP_001352881.1 kinesin-like protein KIF1B isoform c
NM_001365953.1 NP_001352882.1 kinesin-like protein KIF1B isoform alpha
NM_015074.3 NP_055889.2 kinesin-like protein KIF1B isoform b
NM_183416.4 NP_904325.2 kinesin-like protein KIF1B isoform alpha

KIF1B Protein Structure

Kinesin

Kinesin: Kinesin motor domain (11 - 354)

FHA

FHA: FHA domain (558 - 627)

KIF1B

KIF1B: Kinesin protein 1B (845 - 892)

DUF3694

DUF3694: Kinesin protein (1266 - 1413)

PH

PH: PH domain (1703 - 1796)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1816 a.a.
Protein Preferred Names Protein Names

kinesin-like protein KIF1B

Charcot-Marie-Tooth neuropathy type II

Related Diseases

Diseases Alias
Charcot-Marie-Tooth Disease, Axonal, Type 2a1

CMT2A1

Charcot-Marie-Tooth Disease Type 2a1

Hereditary Motor And Sensory Neuropathy Iia1

Hmsn Iia1

Hmsn2a1

Charcot-Marie-Tooth Disease, Type 2a1

Charcot-Marie-Tooth Disease Neuronal Type 2a1

Charcot-Marie-Tooth Neuropathy Type 2a1

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1

Charcot-Marie-Tooth Disease, Neuronal, Type 2a1

Charcot-Marie-Tooth Neuropathy, Type 2a1

Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1

Charcot-Marie-Tooth Disease 2a1

Charcot-Marie-Tooth Disease Axonal Type 2a1

Neuroblastoma 1

Neuroblastoma, Susceptibility To, 1

NBLST1

Neuroblastoma, Susceptibility To, Type 1

Pheochromocytoma

Pheochromocytoma, Susceptibility To

Phaeochromocytoma

Adrenal Gland Chromaffin Paraganglioma

Adrenal Gland Chromaffinoma

Adrenal Gland Paraganglioma

Adrenal Gland Pheochromocytoma

Chromaffin Paraganglioma Of The Adrenal Gland

Intraadrenal Paraganglioma

PCC

Chromaffin Cell Tumor

Medullary Chromaffinoma

Medullary Paraganglioma

Pheochromoblastoma

Pheochromocytomas

Chromaffin Cell Neoplasm

Pheochromocytoma, Malignant

Hereditary Paraganglioma-Pheochromocytoma Syndromes

Hereditary Pheochromocytoma-Paraganglioma

Hereditary Paraganglioma-Pheochromocytoma

Familial Pheochromocytoma-Paraganglioma

Paragangliomas 2

Paragangliomas 3

Paragangliomas 4

Sdhx-Related Paraganglioma-Pheochromocytoma

Familial Paraganglioma Syndrome

Familial Paraganglioma-Pheochromocytoma Syndromes

Fpgl

Fpgl/Pheo

Paragangliomas 1

Paraganglioma

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Tooth Disease

Tooth Diseases

Teeth Disease

Tooth Disorders

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Charcot-Marie-Tooth Disease Type 2a2b

Severe Early-Onset Axonal Neuropathy Due To Mfn2 Deficiency

Ar-Cmt2, Ouvrier Type

Autosomal Recessive Charcot-Marie-Tooth Disease, Ouvrier Type

Seoan Due To Mfn2 Deficiency

Charcot-Marie-Tooth Disease, Axonal, Type 2a2b

Cmt2a2b

Charcot-Marie-Tooth Disease, Type 2a2b

Paraganglioma

Chemodectoma

Glomus Body Tumor

Paragangliomas

Carotid Body Paraganglioma

Extra-Adrenal Paraganglioma

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Esophagus Leiomyoma

Leiomyoma Of Esophagus

Persistent Generalized Lymphadenopathy

Pgl

Persistant Generalized Lymphadenopathy

Charcot-Marie-Tooth Disease, Dominant Intermediate D

CMTDID

Charcot-Marie-Tooth Disease Dominant Intermediate D

Di-Cmtd

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type D

Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D

Charcot-Marie-Tooth Neuropathy Dominant Intermediate D

Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, D

Charcot-Marie-Tooth Disease, Dominant Intermediate, Type D

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv

Head And Neck Cancer

Head And Neck Neoplasm

Head And Neck Tumours

Head/Neck Neoplasm

Tumor Of Head And Neck

Head And Neck Neoplasms

Hnc

Cancer, Head/Neck

Charcot-Marie-Tooth Disease Type 2a2a

Charcot-Marie-Tooth Disease, Type 2a2a

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2

Charcot-Marie-Tooth Neuronal Type 2a2

Charcot-Marie-Tooth Neuropathy Type 2a2

Cmt2a2a

Hereditary Motor And Sensory Neuropathy Iia2

Hmsn Iia2

Hmsn2a2

Paraganglioma And Gastric Stromal Sarcoma

Carney-Stratakis Syndrome

Paraganglioma And Gastrointestinal Stromal Tumor

Carney Dyad

Carney-Stratakis Dyad Of Paraganglioma And Gastric Stromal Sarcoma

Paraganglioma And Gist

Carney-Stratakis Dyad

Gist-Paraganglioma Dyad

PGGSS

Paraganglioma, Gastric Stromal Sarcoma

Gastrointestinal Stromal Tumors

Charcot-Marie-Tooth Disease, Axonal, Type 2l

Charcot-Marie-Tooth Disease Axonal Type 2l

CMT2L

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l

Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l

Charcot-Marie-Tooth Neuropathy Axonal Type 2l

Charcot-Marie-Tooth Disease 2l

Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l

Charcot-Marie-Tooth Disease Neuronal Type 2l

Charcot-Marie-Tooth Neuropathy Type 2l

Charcot-Marie-Tooth Disease, Type 2l

Charcot-Marie-Tooth Disease, Type 2i

Charcot-Marie-Tooth Disease, Axonal, Type 2n

Charcot-Marie-Tooth Disease Axonal Type 2n

CMT2N

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n

Charcot-Marie-Tooth Neuropathy Axonal Type 2n

Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n

Charcot-Marie-Tooth Disease 2n

Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n

Charcot-Marie-Tooth Disease, Type 2n

Charcot-Marie-Tooth Disease, Axonal, Type 2i

CMT2I

Charcot-Marie-Tooth Disease, Type 2i

Charcot-Marie-Tooth Disease Type 2i

Charcot-Marie-Tooth Neuropathy Type 2i

Charcot-Marie-Tooth Neuropathy, Type 2i

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i

Charcot-Marie-Tooth Disease 2i

Charcot-Marie-Tooth Disease Axonal Type 2i

Charcot-Marie-Tooth Disease Neuronal Type 2i

Charcot-Marie-Tooth Disease, Axonal, Type 2b

Charcot-Marie-Tooth Disease Type 2b

CMT2B

Hmsn Iib

Hmsn2b

Charcot-Marie-Tooth Disease, Type 2b

Hereditary Motor And Sensory Neuropathy Iib

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b

Charcot-Marie-Tooth Neuropathy Type 2b

Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b

Charcot-Marie-Tooth Neuropathy, Type 2b

Hereditary Motor And Sensory Nueropathy Iib

Cmt 2b

Charcot Marie Tooth Disease Type 2b

Charcot-Marie-Tooth Disease, Neuronal, Type 2b

Hereditary Motor And Sensory Neuropathy 2 B

Peripheral Sensory Neuropathy, Autosomal Dominant

Charcot-Marie-Tooth Disease 2b

Charcot-Marie-Tooth Disease Axonal Type 2b

Charcot-Marie-Tooth Disease Neuronal Type 2b

Peripheral Sensory Neuropathy Autosomal Dominant

Psn

Charcot-Marie-Tooth Disease And Deafness

Charcot-Marie-Tooth Disease Type 1e

CMT1E

Charcot-Marie-Tooth Disease Type 1

Hereditary Motor And Sensory Neuropathy Type 1

Charcot-Marie-Tooth Disease, Demyelinating, Type 1e

Charcot-Marie-Tooth Disease, Type I

Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant

Charcot-Marie-Tooth Disease, Type 1e

Charcot-Marie-Tooth Disease Demyelinating Type 1e

Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease

Cmt1

Charcot-Marie-Tooth Neuropathy Type 1

Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness

Charcot-Marie-Tooth Disease-Deafness

Charcot-Marie-Tooth Type 1

Hmsn1

Hereditary Motor And Sensory Neuropathy 1

Cmt 1e

Charcot Marie Tooth Disease Type 1e

Charcot-Marie-Tooth Disease-Deafness Syndrome

Charcot-Marie-Tooth Disease-Hearing Loss Syndrome

Charcot-Marie-Tooth Disease 1e

Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant

Charcot-Marie-Tooth Neuropathy Type 1e

Charcot-Marie-Tooth Disease, Type Ie

Hereditary Motor And Sensory Neuropathy Type I

Charcot-Marie-Tooth Disease, Axonal, Type 2b2

Charcot-Marie-Tooth Disease Type 2b2

CMT2B2

Arcmt2b

Charcot-Marie-Tooth Disease, Type 2b2

Ar-Cmt2b2

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2

Autosomal Recessive Axonal Cmt4c3

Charcot-Marie-Tooth Disease Neuronal Type 2b2

Charcot-Marie-Tooth Neuropathy Type 2b2

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2

Charcot-Marie-Tooth Disease, Neuronal, Type 2b2

Charcot-Marie-Tooth Neuropathy, Type 2b2

Charcot-Marie-Tooth Disease 2b2

Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2

Charcot-Marie-Tooth Disease Axonal Type 2b2

Charcot-Marie-Tooth Disease, Axonal, Type 2f

Charcot-Marie-Tooth Disease Axonal Type 2f

CMT2F

Charcot-Marie-Tooth Disease, Neuronal, Type 2f

Charcot-Marie-Tooth Neuropathy, Type 2f

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f

Charcot-Marie-Tooth Neuropathy Type 2f

Charcot-Marie-Tooth Neuronal Type 2f

Charcot-Marie-Tooth Disease Type 2f

Cmt 2f

Charcot Marie Tooth Disease Type 2f

Charcot-Marie-Tooth Disease 2f

Charcot-Marie-Tooth Disease Neuronal Type 2f

Charcot-Marie-Tooth Disease, Type 2f

Peripheral Nervous System Benign Neoplasm
Autonomic Nervous System Benign Neoplasm
Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles

Cfeom

Feom

Congenital External Ophthalmoplegia

Congenital Fibrosis Syndrome

General Fibrosis Syndrome

Goldberg-Shprintzen Syndrome

Goldberg-Shprintzen Megacolon Syndrome

GOSHS

Megacolon-Microcephaly Syndrome

Von Hippel-Lindau Syndrome

Von Hippel-Lindau Disease

Vhl

Vhl Syndrome

VHLS

Von Hippel-Lindau Syndrome, Modifier Of

Hippel Lindau Syndrome

Angiomatosis Retinae

Cerebelloretinal Angiomatosis, Familial

Hippel-Lindau Disease

Familial Cerebelloretinal Angiomatosis

Lindau Disease

VHLD

Spastic Paraplegia 10, Autosomal Dominant

SPG10

Hereditary Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia Type 10

Spastic Paraplegia 10

Spastic Paraplegia 10 With Or Without Peripheral Neuropathy

Autosomal Dominant Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia

Spastic Paraplegia, Autosomal Dominant

Paraplegia, Spastic, Autosomal Dominant, Type 10

Hypertrophic Neuropathy Of Dejerine-Sottas

Dejerine-Sottas Disease

Dejerine-Sottas Syndrome

Charcot-Marie-Tooth Disease Type 3

DSS

Hereditary Motor And Sensory Neuropathy Type Iii

Hmsn3

Dejerine-Sottas Neuropathy

Hmsn Iii

Charcot-Marie-Tooth Disease, Type 3

Cmt3

Dsn

Hmsn 3

Hereditary Motor And Sensory Neuropathy Type 3

Hereditary Motor And Sensory Neuropathy 3

Hypertrophic Neuropathy Of Infancy

Charcot-Marie-Tooth Disease Demyelinating Type 4f

Charcot-Marie-Tooth Disease Type 4f

Charcot-Marie-Tooth Neuropathy Type 4f

Cmt4f

Hereditary Motor And Sensory Neuropathy Iii

Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Congenital Central Hypoventilation Syndrome

Cchs

Haddad Syndrome

Ondine Curse

Ondine Syndrome

Congenital Central Hypoventilation

Congenital Central Alveolar Hypoventilation Syndrome

Congenital Failure Of Autonomic Control

Ondine'S Curse

Primary Alveolar Hypoventilation

Ondine-Hirschsprung Disease

Central Congenital Hypoventilation Syndrome

Congenital Ondine Curse

Idiopathic Congenital Central Alveolar Hypoventilation

Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome

Ondine-Hirschsprung Syndrome

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus KIF1B VGNC VGNC:63110
Macaca mulatta KIF1B VGNC VGNC:73841
Bos taurus KIF1B VGNC VGNC:30591
Mus musculus KIF1B MGD MGI:108426
Canis familiaris KIF1B VGNC VGNC:42391
Rattus norvegicus KIF1B RGD RGD:621520