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

    Gene ID: 23095, updated on 7-Jul-2024

    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; AllianceGenome:HGNC:16636
    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
    Predicted to enable microtubule binding activity and plus-end-directed microtubule motor activity. Predicted to be involved in chemical synaptic transmission; dense core granule cytoskeletal transport; and vesicle-mediated transport. Predicted to act upstream of or within mitochondrion transport along microtubule. Predicted to be located in cytoplasmic vesicle membrane and neuron projection. Predicted to be part of kinesin complex. Predicted to be active in several cellular components, including axon; dendrite; and microtubule. Implicated in Charcot-Marie-Tooth disease type 2A1; carcinoma (multiple); multiple sclerosis; neuroblastoma; and pheochromocytoma. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in brain (RPKM 28.3), testis (RPKM 7.8) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KIF1B in Genome Data Viewer
    Location:
    1p36.22
    Exon count:
    52
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (10210570..10381603)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (9754179..9925204)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (10270628..10441661)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10119257-10120187 Neighboring gene ubiquitination factor E4B Neighboring gene phosphoglycerate mutase 1 pseudogene 11 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:10149775-10150276 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:10150277-10150776 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:10168782-10169282 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:10215211-10215412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 143 Neighboring gene RNA, U6 small nuclear 828, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 144 Neighboring gene Sharpr-MPRA regulatory region 4147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 242 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:10271761-10272416 Neighboring gene MPRA-validated peak64 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10304177-10304678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10304679-10305178 Neighboring gene MPRA-validated peak65 silencer Neighboring gene MPRA-validated peak66 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 145 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:10367507-10368007 Neighboring gene MPRA-validated peak67 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:10378039-10378580 Neighboring gene RNA, U6 small nuclear 37, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 731, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:10385546-10386745 Neighboring gene MPRA-validated peak69 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10437772-10438272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 147 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:10459711-10459887 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 245 Neighboring gene MPRA-validated peak70 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10485963-10486568 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:10486569-10487174 Neighboring gene Sharpr-MPRA regulatory region 15261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:10493213-10493793 Neighboring gene CENPS-CORT readthrough Neighboring gene phosphogluconate dehydrogenase Neighboring gene centromere protein S

    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
    Neuroblastoma, susceptibility to, 1
    MedGen: C2749485 OMIM: 256700 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: PGD

    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
     
    enables kinesin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables plus-end-directed microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables plus-end-directed microtubule motor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in anterograde synaptic vesicle 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
     
    involved_in microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    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
     
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    located_in cytoplasmic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of kinesin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    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
     
    is_active_in synaptic vesicle membrane ISS
    Inferred from Sequence or Structural Similarity
    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
      Consensus CDS
      CCDS90858.1
      UniProtKB/Swiss-Prot
      A6NFS8, A6NKQ4, O60333, Q4VXC3, Q4VXC4, Q4VXC5, Q4VXC6, Q96Q94, Q9BV80, Q9P280
      UniProtKB/TrEMBL
      Q4R9M9
      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
      Consensus CDS
      CCDS90858.1
      UniProtKB/Swiss-Prot
      A6NFS8, A6NKQ4, O60333, Q4VXC3, Q4VXC4, Q4VXC5, Q4VXC6, Q96Q94, Q9BV80, Q9P280
      UniProtKB/TrEMBL
      Q4R9M9
      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
      Consensus CDS
      CCDS112.1
      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/TrEMBL
      A0A8Q3WLB3, A0A8Q3WM94
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      9754179..9925204
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)