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    KIF13A kinesin family member 13A [ Homo sapiens (human) ]

    Gene ID: 63971, updated on 28-Oct-2024

    Summary

    Official Symbol
    KIF13Aprovided by HGNC
    Official Full Name
    kinesin family member 13Aprovided by HGNC
    Primary source
    HGNC:HGNC:14566
    See related
    Ensembl:ENSG00000137177 MIM:605433; AllianceGenome:HGNC:14566
    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
    RBKIN; bA500C11.2
    Summary
    This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
    Expression
    Ubiquitous expression in heart (RPKM 12.6), thyroid (RPKM 10.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KIF13A in Genome Data Viewer
    Location:
    6p22.3
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (17759126..17987635, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (17631379..17859810, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (17759357..17987866, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4388 Neighboring gene uncharacterized LOC124901554 Neighboring gene RNA, 5S ribosomal pseudogene 204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:17741805-17742364 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:17742982-17743213 Neighboring gene MPRA-validated peak5708 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:17745783-17746283 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:17756633-17756835 Neighboring gene Sharpr-MPRA regulatory region 4440 Neighboring gene uncharacterized LOC105374953 Neighboring gene Sharpr-MPRA regulatory region 4275 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:17934402-17934586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:17940169-17940668 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:17976631-17977191 Neighboring gene ribosomal protein S12 pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24116 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:18022491-18023444 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:18089369-18090086 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:18146951-18148150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16969 Neighboring gene NHL repeat containing E3 ubiquitin protein ligase 1 Neighboring gene thiopurine S-methyltransferase

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    EBI GWAS Catalog

    Description
    A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ27232

    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 microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 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 Golgi to plasma membrane protein transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endosome to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in melanosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in plus-end-directed vesicle transport along microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vesicle cargo loading IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vesicle transport along microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in trans-Golgi network membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    kinesin-like protein KIF13A
    Names
    homolog of mouse KIF13A mannose-6-phosphate receptor transporter
    kinesin-like protein RBKIN

    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_029766.1 RefSeqGene

      Range
      4989..228931
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001105566.3NP_001099036.1  kinesin-like protein KIF13A isoform b

      See identical proteins and their annotated locations for NP_001099036.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (b, also known as RBKIN2) that is shorter than isoform a.
      Source sequence(s)
      AA037612, AJ291578, AL023807, AY014404, BC062673, BC127115
      Consensus CDS
      CCDS54968.1
      UniProtKB/TrEMBL
      A0A1B0GUA8
      Related
      ENSP00000368103.2, ENST00000378826.6
      Conserved Domains (6) summary
      cd00060
      Location:446543
      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:5359
      KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
      pfam12423
      Location:748792
      KIF1B; Kinesin protein 1B
      pfam12473
      Location:12151279
      DUF3694; Kinesin protein
      pfam16183
      Location:356468
      Kinesin_assoc; Kinesin-associated
      cl25732
      Location:606771
      SMC_N; RecF/RecN/SMC N terminal domain
    2. NM_001105567.3NP_001099037.1  kinesin-like protein KIF13A isoform c

      See identical proteins and their annotated locations for NP_001099037.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in both the central and 3' coding regions, compared to variant 1, resulting in an isoform (c, also known as KINESIN-13A1) that is shorter than isoform a.
      Source sequence(s)
      AA037612, AJ291578, AL023807, BC062673
      Consensus CDS
      CCDS54967.1
      UniProtKB/TrEMBL
      A0A1B0GUA8
      Related
      ENSP00000368120.2, ENST00000378843.6
      Conserved Domains (6) summary
      cd00060
      Location:446543
      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:5359
      KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
      pfam12423
      Location:748792
      KIF1B; Kinesin protein 1B
      pfam12473
      Location:10031266
      DUF3694; Kinesin protein
      pfam16183
      Location:356468
      Kinesin_assoc; Kinesin-associated
      cl25732
      Location:606771
      SMC_N; RecF/RecN/SMC N terminal domain
    3. NM_001105568.4NP_001099038.1  kinesin-like protein KIF13A isoform d

      See identical proteins and their annotated locations for NP_001099038.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in both the central and 3' coding regions, and also includes alternate 3' exon structure and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d, also known as KINESIN-13A2) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AJ291579, AL023807, AL138724, BC062673, BQ184768
      Consensus CDS
      CCDS47380.1
      UniProtKB/TrEMBL
      A0A1B0GUA8
      Related
      ENSP00000368091.5, ENST00000378814.9
      Conserved Domains (6) summary
      cd00060
      Location:446543
      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:5359
      KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
      pfam12423
      Location:748792
      KIF1B; Kinesin protein 1B
      pfam12473
      Location:10031266
      DUF3694; Kinesin protein
      pfam16183
      Location:356468
      Kinesin_assoc; Kinesin-associated
      cl25732
      Location:606771
      SMC_N; RecF/RecN/SMC N terminal domain
    4. NM_001243423.2NP_001230352.1  kinesin-like protein KIF13A isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks several 3' exons but includes an alternate 3' exon, and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (e) shares the same N-terminus but has a distinct C-terminus and is significantly shorter than isoform a.
      Source sequence(s)
      AI080622, AL023807, BC062673
      Consensus CDS
      CCDS58998.1
      UniProtKB/Swiss-Prot
      Q9H1H9
      Related
      ENSP00000425453.1, ENST00000502704.2
      Conserved Domains (1) summary
      cl22853
      Location:555
      Motor_domain; Myosin and Kinesin motor domain
    5. NM_022113.6NP_071396.4  kinesin-like protein KIF13A isoform a

      See identical proteins and their annotated locations for NP_071396.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a, also known as RBKIN1).
      Source sequence(s)
      AA037612, AJ291578, AL023807, AY014403, BC062673, BG481524
      Consensus CDS
      CCDS47381.1
      UniProtKB/Swiss-Prot
      A0JP21, A0JP22, F2Z382, Q5THQ2, Q5THQ3, Q9H193, Q9H194, Q9H1H8, Q9H1H9
      UniProtKB/TrEMBL
      A0A1B0GUA8
      Related
      ENSP00000259711.6, ENST00000259711.11
      Conserved Domains (6) summary
      cd00060
      Location:446543
      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:5359
      KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
      pfam12423
      Location:748792
      KIF1B; Kinesin protein 1B
      pfam12473
      Location:12151279
      DUF3694; Kinesin protein
      pfam16183
      Location:356468
      Kinesin_assoc; Kinesin-associated
      cl25732
      Location:606771
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      17759126..17987635 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      17631379..17859810 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)