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

Gene ID: 23095, updated on 23-Nov-2021

Summary

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
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
NEW
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Genomic context

See KIF1B in Genome Data Viewer
Location:
1p36.22
Exon count:
52
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (10210570..10381603)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (10270628..10441661)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ubiquitination factor E4B Neighboring gene RNA, U6 small nuclear 828, pseudogene Neighboring gene Sharpr-MPRA regulatory region 4147 Neighboring gene RNA, U6 small nuclear 37, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 731, pseudogene Neighboring gene uncharacterized LOC105376725 Neighboring gene Sharpr-MPRA regulatory region 15261 Neighboring gene phosphogluconate dehydrogenase

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Charcot-Marie-Tooth disease, type 2A1 Compare labs
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis.
GeneReviews: Not available
Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers.
GeneReviews: Not available
Neuroblastoma 1
MedGen: C2749485 OMIM: 256700 GeneReviews: Not available
Compare labs
New gene functions in megakaryopoiesis and platelet formation.
GeneReviews: Not available
Pheochromocytoma Compare labs

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: PGD

Homology

Clone Names

  • FLJ23699, KIAA0591, KIAA1448, MGC134844

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables kinesin binding TAS
Traceable Author Statement
more info
PubMed 
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables plus-end-directed microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables plus-end-directed microtubule motor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in anterograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in cytoskeleton-dependent intracellular transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cytoskeleton-dependent intracellular transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in microtubule-based movement ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuromuscular synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuron-neuron synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasmic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of kinesin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of microtubule associated complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
 
located_in neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
kinesin-like protein KIF1B
Names
Charcot-Marie-Tooth neuropathy type II
kinesin superfamily protein KIF1B

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    4865..175898
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_252

mRNA and Protein(s)

  1. NM_001365951.3NP_001352880.1  kinesin-like protein KIF1B isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c). Variants 3 and 4 both encode the same isoform (c).
    Source sequence(s)
    AL139424, AL358013
    Related
    ENSP00000502065.1, ENST00000676179.1
    Conserved Domains (7) summary
    cd00060
    Location:532636
    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:16971799
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    cd01365
    Location:4361
    KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
    pfam12423
    Location:845892
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:12661413
    DUF3694; Kinesin protein
    pfam16183
    Location:358555
    Kinesin_assoc; Kinesin-associated
    cl09111
    Location:662717
    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_001365952.1NP_001352881.1  kinesin-like protein KIF1B isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variant 3, encodes isoform c.
    Source sequence(s)
    AL139424, AL358013
    Related
    ENSP00000366290.1, ENST00000377086.5
    Conserved Domains (7) summary
    cd00060
    Location:532636
    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:16971799
    PH_KIFIA_KIFIB; KIFIA and KIFIB protein pleckstrin homology (PH) domain
    cd01365
    Location:4361
    KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
    pfam12423
    Location:845892
    KIF1B; Kinesin protein 1B
    pfam12473
    Location:12661413
    DUF3694; Kinesin protein
    pfam16183
    Location:358555
    Kinesin_assoc; Kinesin-associated
    cl09111
    Location:662717
    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 ...
  3. NM_001365953.1NP_001352882.1  kinesin-like protein KIF1B isoform alpha

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variant 2, encodes isoform alpha.
    Source sequence(s)
    AL358013
    Related
    ENSP00000366287.1, ENST00000377083.5
    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
  4. 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) encodes isoform b, 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, ENST00000263934.10
    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 ...
  5. NM_183416.4NP_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, ENST00000377093.9
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    10210570..10381603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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