Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KIF1B Gene

Aliases for KIF1B Gene

  • Kinesin Family Member 1B 2 3 5
  • KLP 3 4
  • Kinesin Superfamily Protein KIF1B 3
  • KIAA0591 4
  • KIAA1448 4
  • CMT2A1 3
  • HMSNII 3
  • NBLST1 3
  • CMT2A 3
  • CMT2 3

External Ids for KIF1B Gene

Previous HGNC Symbols for KIF1B Gene

  • CMT2A
  • CMT2

Previous GeneCards Identifiers for KIF1B Gene

  • GC01P010232
  • GC01P010114
  • GC01P009880
  • GC01P009980
  • GC01P010205
  • GC01P010193
  • GC01P009426

Summaries for KIF1B Gene

Entrez Gene Summary for KIF1B Gene

  • 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]

GeneCards Summary for KIF1B Gene

KIF1B (Kinesin Family Member 1B) is a Protein Coding gene. Diseases associated with KIF1B include charcot-marie-tooth disease, type 2a1 and neuroblastoma. Among its related pathways are Platelet activation, signaling and aggregation and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is KIF14.

UniProtKB/Swiss-Prot for KIF1B Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIF1B Gene

Genomics for KIF1B Gene

Regulatory Elements for KIF1B Gene

Promoters for KIF1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KIF1B on UCSC Golden Path with GeneCards custom track

Genomic Location for KIF1B Gene

Chromosome:
1
Start:
10,210,706 bp from pter
End:
10,381,603 bp from pter
Size:
170,898 bases
Orientation:
Plus strand

Genomic View for KIF1B Gene

Genes around KIF1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIF1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIF1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF1B Gene

Proteins for KIF1B Gene

  • Protein details for KIF1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60333-KIF1B_HUMAN
    Recommended name:
    Kinesin-like protein KIF1B
    Protein Accession:
    O60333
    Secondary Accessions:
    • A6NFS8
    • A6NKQ4
    • Q4VXC3
    • Q4VXC4
    • Q4VXC5
    • Q4VXC6
    • Q96Q94
    • Q9BV80
    • Q9P280

    Protein attributes for KIF1B Gene

    Size:
    1816 amino acids
    Molecular mass:
    204476 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAH01415.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAP35838.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA25517.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA95972.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB69038.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KIF1B Gene

    Alternative splice isoforms for KIF1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIF1B Gene

Proteomics data for KIF1B Gene at MOPED

Post-translational modifications for KIF1B Gene

  • Ubiquitination at Lys 930
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for KIF1B (KIF1B)

No data available for DME Specific Peptides for KIF1B Gene

Domains & Families for KIF1B Gene

Gene Families for KIF1B Gene

Suggested Antigen Peptide Sequences for KIF1B Gene

Graphical View of Domain Structure for InterPro Entry

O60333

UniProtKB/Swiss-Prot:

KIF1B_HUMAN :
  • Contains 1 FHA domain.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily.
Domain:
  • Contains 1 FHA domain.
  • Contains 1 kinesin motor domain.
  • Contains 1 PH domain.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily.
genes like me logo Genes that share domains with KIF1B: view

Function for KIF1B Gene

Molecular function for KIF1B Gene

UniProtKB/Swiss-Prot Function:
Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is required for induction of neuronal apoptosis.

Gene Ontology (GO) - Molecular Function for KIF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 12097473
GO:0016887 ATPase activity ISS --
genes like me logo Genes that share ontologies with KIF1B: view
genes like me logo Genes that share phenotypes with KIF1B: view

Human Phenotype Ontology for KIF1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIF1B Gene

MGI Knock Outs for KIF1B:

Animal Model Products

  • Taconic Biosciences Mouse Models for KIF1B

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KIF1B Gene

Localization for KIF1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF1B Gene

Cytoplasmic vesicle. Cytoplasm, cytoskeleton. Mitochondrion. Note=Colocalizes with synaptophysin at synaptic cytoplasmic transport vesicles in the neurites of hippocampal neurons. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIF1B Gene COMPARTMENTS Subcellular localization image for KIF1B gene
Compartment Confidence
cytoskeleton 5
cytosol 4
mitochondrion 4
nucleus 3

Gene Ontology (GO) - Cellular Components for KIF1B Gene

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 --
genes like me logo Genes that share ontologies with KIF1B: view

Pathways & Interactions for KIF1B Gene

genes like me logo Genes that share pathways with KIF1B: view

Gene Ontology (GO) - Biological Process for KIF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007270 neuron-neuron synaptic transmission ISS --
GO:0047497 mitochondrion transport along microtubule IEA --
genes like me logo Genes that share ontologies with KIF1B: view

No data available for SIGNOR curated interactions for KIF1B Gene

Drugs & Compounds for KIF1B Gene

No Compound Related Data Available

Transcripts for KIF1B Gene

Unigene Clusters for KIF1B Gene

Kinesin family member 1B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIF1B Gene

No ASD Table

Relevant External Links for KIF1B Gene

GeneLoc Exon Structure for
KIF1B
ECgene alternative splicing isoforms for
KIF1B

Expression for KIF1B Gene

mRNA expression in normal human tissues for KIF1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIF1B Gene

This gene is overexpressed in Muscle - Skeletal (x5.0).

Protein differential expression in normal tissues from HIPED for KIF1B Gene

This gene is overexpressed in Cervix (26.6), Brain (16.1), and Heart (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KIF1B Gene



SOURCE GeneReport for Unigene cluster for KIF1B Gene Hs.97858

mRNA Expression by UniProt/SwissProt for KIF1B Gene

O60333-KIF1B_HUMAN
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.
genes like me logo Genes that share expression patterns with KIF1B: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for KIF1B Gene

Orthologs for KIF1B Gene

This gene was present in the common ancestor of animals.

Orthologs for KIF1B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KIF1B 35
  • 92.37 (n)
  • 97.34 (a)
KIF1B 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIF1B 35
  • 92.77 (n)
  • 97.8 (a)
KIF1B 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kif1b 35
  • 90.55 (n)
  • 97.06 (a)
Kif1b 16
Kif1b 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kif1b 35
  • 90.32 (n)
  • 96.84 (a)
oppossum
(Monodelphis domestica)
Mammalia KIF1B 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIF1B 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIF1B 36
  • 62 (a)
ManyToMany
chicken
(Gallus gallus)
Aves KIF1B 35
  • 82.13 (n)
  • 94.97 (a)
KIF1B 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIF1B 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kif1b 35
  • 77.88 (n)
  • 90.2 (a)
zebrafish
(Danio rerio)
Actinopterygii kif1b 35
  • 76.69 (n)
  • 88.43 (a)
kif1b 36
  • 88 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta neb 37
  • 32 (a)
unc-104 37
  • 50 (a)
unc-104 36
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea klp-6 37
  • 40 (a)
unc-104 36
  • 53 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.583 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToMany
Species with no ortholog for KIF1B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KIF1B Gene

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

Paralogs for KIF1B Gene

(7) SIMAP similar genes for KIF1B Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for KIF1B Gene

genes like me logo Genes that share paralogs with KIF1B: view

Variants for KIF1B Gene

Sequence variations from dbSNP and Humsavar for KIF1B Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_011515 Charcot-Marie-Tooth disease 2A1 (CMT2A1)
VAR_063531 -
VAR_063532 -
rs121908162 - 10,324,838(+) AACCA(C/T)TGTGA reference, missense
rs2297881 - 10,337,509(-) CTGCA(C/T)ACTCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KIF1B Gene

Variant ID Type Subtype PubMed ID
dgv17e1 CNV Complex 17122850
esv2743641 CNV Deletion 23290073
esv2743652 CNV Deletion 23290073
esv4531 CNV Deletion 18987735
esv2550823 CNV Deletion 19546169
nsv2409 CNV Insertion 18451855
dgv1n17 CNV Loss 16327808
nsv436146 CNV Deletion 17901297
nsv8102 CNV Loss 18304495
esv23835 CNV Loss 19812545
esv2657507 CNV Deletion 23128226
esv2421759 CNV Deletion 20811451
nsv515546 CNV Loss 19592680
nsv818666 CNV Loss 17921354
nsv441678 CNV CNV 18776908
nsv513981 CNV Loss 21397061
nsv437970 CNV Loss 16468122

Variation tolerance for KIF1B Gene

Residual Variation Intolerance Score: 0.873% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.28; 70.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIF1B Gene

HapMap Linkage Disequilibrium report
KIF1B
Human Gene Mutation Database (HGMD)
KIF1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIF1B Gene

Disorders for KIF1B Gene

MalaCards: The human disease database

(29) MalaCards diseases for KIF1B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 2a1
  • cmt2a1
neuroblastoma
  • neuroblastoma 1
charcot-marie-tooth hereditary neuropathy
  • charcot-marie-tooth disease
pheochromocytoma
  • pheochromocytoma, modifier of
cataract congenital dominant non nuclear
  • pheochromocytoma
- elite association - COSMIC cancer census association via MalaCards
Search KIF1B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KIF1B_HUMAN
  • Charcot-Marie-Tooth disease 2A1 (CMT2A1) [MIM:118210]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:11389829}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neuroblastoma 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:18334619}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for KIF1B

Genetic Association Database (GAD)
KIF1B
Human Genome Epidemiology (HuGE) Navigator
KIF1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIF1B
genes like me logo Genes that share disorders with KIF1B: view

No data available for Genatlas for KIF1B Gene

Publications for KIF1B Gene

  1. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B-beta. (PMID: 11389829) Zhao C. … Hirokawa N. (Cell 2001) 2 3 4 23 67
  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. (PMID: 10762626) Nagai M. … Nakagawara A. (Int. J. Oncol. 2000) 2 3 23
  3. Lack of replication of KIF1B gene in an Italian primary progressive multiple sclerosis cohort. (PMID: 20067515) Martinelli-Boneschi F. … Comi G. (Eur. J. Neurol. 2010) 3 23
  4. Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. (PMID: 18997785) Aulchenko Y.S. … Hintzen R.Q. (Nat. Genet. 2008) 3 23
  5. Genomic structure and mutational analysis of the human KIF1Balpha gene located at 1p36.2 in neuroblastoma. (PMID: 12888911) Chen Y.Y. … Hayashi Y. (Int. J. Oncol. 2003) 3 23

Products for KIF1B Gene

Sources for KIF1B Gene

Back to Top

Content