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KIF1B kinesin family member 1B [ Homo sapiens (human) ]

Gene ID: 23095, updated on 3-Jun-2018
Official Symbol
KIF1Bprovided by HGNC
Official Full Name
kinesin family member 1Bprovided by HGNC
Primary source
HGNC:HGNC:16636
See related
Ensembl:ENSG00000054523 MIM:605995; Vega:OTTHUMG00000001817
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KLP; CMT2; CMT2A; CMT2A1; HMSNII; NBLST1
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]
Expression
Broad expression in brain (RPKM 28.3), testis (RPKM 7.8) and 23 other tissues See more
Orthologs
See KIF1B in Genome Data Viewer
Location:
1p36.22
Exon count:
48
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (10210706..10381603)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (10270606..10441664)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ubiquitination factor E4B Neighboring gene phosphoglycerate mutase 1 pseudogene 11 Neighboring gene RNA, U6 small nuclear 828, pseudogene Neighboring gene RNA, U6 small nuclear 37, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 731, pseudogene Neighboring gene uncharacterized LOC105376725 Neighboring gene CENPS-CORT readthrough Neighboring gene phosphogluconate dehydrogenase Neighboring gene centromere protein S

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
capsid gag The ability of exogenously expressed FEZ1 binding to kinesin-1 to promote early HIV-1 infection, leading to the movement of HIV-1 CA core to the nucleus PubMed

Go to the HIV-1, Human Interaction Database

  • COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystem (from REACTOME)
    COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER is mediated in part by microtubule-directed COPI-coated vesicles (Letourneur et al, 1994; Shima et al, 1999; Spang et al, 1998; reviewed i...
  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Golgi-to-ER retrograde transport, organism-specific biosystem (from REACTOME)
    Golgi-to-ER retrograde transport, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER occurs through either COPI-coated vesicles or through a less well characterized RAB6-dependent route that makes use of tubular carriers (r...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Kinesins, organism-specific biosystem (from REACTOME)
    Kinesins, organism-specific biosystemKinesins are a superfamily of microtubule-based motor proteins that have diverse functions in transport of vesicles, organelles and chromosomes, and regulate microtubule dynamics. There are 14 famil...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: PGD

Homology

Clone Names

  • FLJ23699, KIAA0591, KIAA1448, MGC134844

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent microtubule motor activity IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent microtubule motor activity, plus-end-directed IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
kinase binding IEA
Inferred from Electronic Annotation
more info
 
kinesin binding TAS
Traceable Author Statement
more info
PubMed 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule binding IEA
Inferred from Electronic Annotation
more info
 
microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule motor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
scaffold protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
anterograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
 
anterograde neuronal dense core vesicle transport IEA
Inferred from Electronic Annotation
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cellular response to nerve growth factor stimulus IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton-dependent intracellular transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton-dependent intracellular transport ISS
Inferred from Sequence or Structural Similarity
more info
 
lysosome localization IEA
Inferred from Electronic Annotation
more info
 
microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule-based movement ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrion transport along microtubule IEA
Inferred from Electronic Annotation
more info
 
neuromuscular synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron-neuron synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
protein localization to cell periphery IEA
Inferred from Electronic Annotation
more info
 
response to rotenone IEA
Inferred from Electronic Annotation
more info
 
retrograde neuronal dense core vesicle transport IEA
Inferred from Electronic Annotation
more info
 
vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinesin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
microtubule associated complex ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
kinesin-like protein KIF1B
Names
kinesin superfamily protein KIF1B

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008069.1 RefSeqGene

    Range
    5001..175898
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_252

mRNA and Protein(s)

  1. NM_015074.3NP_055889.2  kinesin-like protein KIF1B isoform b

    See identical proteins and their annotated locations for NP_055889.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform b). Isoform b is also called KIF1b-beta.
    Source sequence(s)
    AA609163, AB017133, AB040881, AF257176, AK025761, BP239973, DA113609, DA485632, DA774937
    Consensus CDS
    CCDS111.1
    UniProtKB/Swiss-Prot
    O60333
    Related
    ENSP00000263934.6, OTTHUMP00000001773, ENST00000263934.10, OTTHUMT00000005103
    Conserved Domains (9) summary
    smart00129
    Location:5355
    KISc; Kinesin motor, catalytic domain. ATPase
    cd00060
    Location:486590
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    cd01233
    Location:16511753
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    cd01365
    Location:4355
    KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
    pfam00169
    Location:16561749
    PH; PH domain
    pfam12423
    Location:799846
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:12671367
    DUF3694; Kinesin protein
    pfam16183
    Location:352509
    Kinesin_assoc; Kinesin-associated
    cl09111
    Location:616671
    Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
  2. NM_183416.3NP_904325.2  kinesin-like protein KIF1B isoform alpha

    See identical proteins and their annotated locations for NP_904325.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a different segment for its 3' coding region and 3' UTR, compared to variant 1. The resulting protein (isoform alpha) has a shorter and distinct C-terminus compared to isoform b.
    Source sequence(s)
    AB040881, AL358013, BF940695, BU626971, DA774937
    Consensus CDS
    CCDS112.1
    UniProtKB/Swiss-Prot
    O60333
    Related
    ENSP00000366297.4, OTTHUMP00000001774, ENST00000377093.8, OTTHUMT00000005104
    Conserved Domains (3) summary
    cd00060
    Location:486590
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    cd01365
    Location:4355
    KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
    pfam16183
    Location:352509
    Kinesin_assoc; Kinesin-associated

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    10210706..10381603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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