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

    Gene ID: 63971, updated on 22-Sep-2016
    Official Symbol
    KIF13Aprovided by HGNC
    Official Full Name
    kinesin family member 13Aprovided by HGNC
    Primary source
    HGNC:HGNC:14566
    See related
    Ensembl:ENSG00000137177 HPRD:09256; MIM:605433; Vega:OTTHUMG00000014313
    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]
    Orthologs
    Location:
    6p23
    Exon count:
    46
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (17759183..17987623, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (17759414..17987864, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene nucleoporin 153 Neighboring gene uncharacterized LOC105374952 Neighboring gene RNA, 5S ribosomal pseudogene 204 Neighboring gene uncharacterized LOC105374953 Neighboring gene ribosomal protein S12 pseudogene 12 Neighboring gene NHL repeat containing E3 ubiquitin protein ligase 1 Neighboring gene thiopurine S-methyltransferase

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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ27232

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    microtubule binding IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    microtubule motor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Golgi to plasma membrane protein transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cargo loading into vesicle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytoskeleton-dependent intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    endosome to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    melanosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plus-end-directed vesicle transport along microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    kinesin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    trans-Golgi network membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    kinesin-like protein KIF13A
    Names
    homolog of mouse KIF13A mannose-6-phosphate receptor transporter
    kinesin-like protein RBKIN

    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
      5001..233441
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001105566.2NP_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, AY014404, BC062673, BC127115
      Consensus CDS
      CCDS54968.1
      UniProtKB/Swiss-Prot
      Q9H1H9
      Related
      ENSP00000368103, OTTHUMP00000016072, ENST00000378826, OTTHUMT00000039955
      Conserved Domains (6) summary
      smart00129
      Location:6359
      KISc; Kinesin motor, catalytic domain. ATPase
      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:12241283
      DUF3694; Kinesin protein
      pfam16183
      Location:356468
      Kinesin_assoc; Kinesin-associated
    2. NM_001105567.2NP_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, BC062673
      Consensus CDS
      CCDS54967.1
      UniProtKB/Swiss-Prot
      Q9H1H9
      Related
      ENSP00000368120, OTTHUMP00000221508, ENST00000378843, OTTHUMT00000367761
      Conserved Domains (6) summary
      smart00129
      Location:6359
      KISc; Kinesin motor, catalytic domain. ATPase
      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:12111270
      DUF3694; Kinesin protein
      pfam16183
      Location:356468
      Kinesin_assoc; Kinesin-associated
    3. NM_001105568.2NP_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, AL138724, BC062673, BQ184768
      Consensus CDS
      CCDS47380.1
      UniProtKB/Swiss-Prot
      Q9H1H9
      Related
      ENSP00000368091, OTTHUMP00000221519, ENST00000378814, OTTHUMT00000367778
      Conserved Domains (6) summary
      smart00129
      Location:6359
      KISc; Kinesin motor, catalytic domain. ATPase
      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:12111270
      DUF3694; Kinesin protein
      pfam16183
      Location:356468
      Kinesin_assoc; Kinesin-associated
    4. NM_001243423.1NP_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, BC062673
      Consensus CDS
      CCDS58998.1
      UniProtKB/Swiss-Prot
      Q9H1H9
      Related
      ENSP00000425453, OTTHUMP00000221531, ENST00000502704, OTTHUMT00000367817
      Conserved Domains (1) summary
      cl22853
      Location:555
      Motor_domain; Myosin and Kinesin motor domain
    5. NM_022113.5NP_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, AY014403, BC062673, BG481524
      Consensus CDS
      CCDS47381.1
      UniProtKB/Swiss-Prot
      Q9H1H9
      Related
      ENSP00000259711, OTTHUMP00000016071, ENST00000259711, OTTHUMT00000039954
      Conserved Domains (6) summary
      smart00129
      Location:6359
      KISc; Kinesin motor, catalytic domain. ATPase
      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:12241283
      DUF3694; Kinesin protein
      pfam16183
      Location:356468
      Kinesin_assoc; Kinesin-associated

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      17759183..17987623 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011192.1XP_016866681.1  

    2. XM_017011188.1XP_016866677.1  

    3. XM_017011189.1XP_016866678.1  

    4. XM_017011190.1XP_016866679.1  

    5. XM_017011191.1XP_016866680.1  

    6. XM_017011193.1XP_016866682.1  

    7. XM_011514806.2XP_011513108.1  

      Conserved Domains (1) summary
      cl22853
      Location:555
      Motor_domain; Myosin and Kinesin motor domain.

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      17761887..17990778 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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