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

Gene ID: 63971, updated on 15-Jun-2019

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
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

Genomic context

See KIF13A in Genome Data Viewer
Location:
6p22.3
Exon count:
45
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Association of TriC/CCT with target proteins during biosynthesis, organism-specific biosystem (from REACTOME)
    Association of TriC/CCT with target proteins during biosynthesis, organism-specific biosystemTRiC has broad recognition specificities, but in the cell it interacts with only a defined set of substrates (Yam et al. 2008). Many of its substrates that are targeted during biosynthesis are conse...
  • Chaperonin-mediated protein folding, organism-specific biosystem (from REACTOME)
    Chaperonin-mediated protein folding, organism-specific biosystemThe eukaryotic chaperonin TCP-1 ring complex (TRiC/ CCT) plays an essential role in the folding of a subset of proteins prominent among which are the actins and tubulins (reviewed in Altschuler and...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Protein folding, organism-specific biosystem (from REACTOME)
    Protein folding, organism-specific biosystemDue to the crowded envirnoment within the cell, many proteins must interact with molecular chaperones to attain their native conformation (reviewed in Young et al., 2004). Chaperones recognize and...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
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 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
endosome to lysosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
plus-end-directed vesicle transport along microtubule ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
PubMed 
microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
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)

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_001105566.3NP_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/Swiss-Prot
    Q9H1H9
    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/Swiss-Prot
    Q9H1H9
    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_001105568.3NP_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/Swiss-Prot
    Q9H1H9
    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
    Q9H1H9
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    17759183..17987635 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011192.1XP_016866681.1  kinesin-like protein KIF13A isoform X4

  2. XM_017011188.1XP_016866677.1  kinesin-like protein KIF13A isoform X1

  3. XM_017011189.1XP_016866678.1  kinesin-like protein KIF13A isoform X2

    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. XM_017011190.1XP_016866679.1  kinesin-like protein KIF13A isoform X3

  5. XM_017011193.1XP_016866682.1  kinesin-like protein KIF13A isoform X5

  6. XM_011514806.2XP_011513108.1  kinesin-like protein KIF13A isoform X6

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