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 trans... See more...

Aliases for KIF13A Gene

Aliases for KIF13A Gene

  • Kinesin Family Member 13A 2 3 5
  • Kinesin-Like Protein KIF13A 3 4
  • Kinesin-Like Protein RBKIN 3 4
  • RBKIN 3 4
  • Homolog Of Mouse KIF13A Mannose-6-Phosphate Receptor Transporter 3
  • BA500C11.2 3

External Ids for KIF13A Gene

Previous GeneCards Identifiers for KIF13A Gene

  • GC06M017818
  • GC06M017868
  • GC06M017871
  • GC06M017705

Summaries for KIF13A Gene

Entrez Gene Summary for KIF13A Gene

  • 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]

GeneCards Summary for KIF13A Gene

KIF13A (Kinesin Family Member 13A) is a Protein Coding gene. Diseases associated with KIF13A include Corneal Dystrophy and Fuchs' Endothelial Dystrophy. Among its related pathways are Chaperonin-mediated protein folding and Reelin Pathway (Cajal-Retzius cells). Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is KIF13B.

UniProtKB/Swiss-Prot Summary for KIF13A Gene

  • Plus end-directed microtubule-dependent motor protein involved in intracellular transport and regulating various processes such as mannose-6-phosphate receptor (M6PR) transport to the plasma membrane, endosomal sorting during melanosome biogenesis and cytokinesis. Mediates the transport of M6PR-containing vesicles from trans-Golgi network to the plasma membrane via direct interaction with the AP-1 complex. During melanosome maturation, required for delivering melanogenic enzymes from recycling endosomes to nascent melanosomes by creating peripheral recycling endosomal subdomains in melanocytes. Also required for the abcission step in cytokinesis: mediates translocation of ZFYVE26, and possibly TTC19, to the midbody during cytokinesis.

Gene Wiki entry for KIF13A Gene

Additional gene information for KIF13A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIF13A Gene

Genomics for KIF13A Gene

GeneHancer (GH) Regulatory Elements for KIF13A Gene

Promoters and enhancers for KIF13A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIF13A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIF13A

Top Transcription factor binding sites by QIAGEN in the KIF13A gene promoter:
  • AML1a
  • AP-2alpha
  • AP-2alpha isoform 3
  • AP-2alphaA
  • C/EBPalpha
  • Evi-1
  • IRF-7A
  • NRSF form 1
  • NRSF form 2
  • Sox5

Genomic Locations for KIF13A Gene

Genomic Locations for KIF13A Gene
chr6:17,759,183-17,987,635
(GRCh38/hg38)
Size:
228,453 bases
Orientation:
Minus strand
chr6:17,759,414-17,987,854
(GRCh37/hg19)
Size:
228,441 bases
Orientation:
Minus strand

Genomic View for KIF13A Gene

Genes around KIF13A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIF13A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIF13A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF13A Gene

Proteins for KIF13A Gene

  • Protein details for KIF13A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1H9-KI13A_HUMAN
    Recommended name:
    Kinesin-like protein KIF13A
    Protein Accession:
    Q9H1H9
    Secondary Accessions:
    • A0JP21
    • A0JP22
    • F2Z382
    • Q5THQ2
    • Q5THQ3
    • Q9H193
    • Q9H194
    • Q9H1H8

    Protein attributes for KIF13A Gene

    Size:
    1805 amino acids
    Molecular mass:
    202308 Da
    Quaternary structure:
    • Interacts with AP2B1 (By similarity). Interacts with ZFYVE26. Interacts with AP1G1 and AP1G2.

    Alternative splice isoforms for KIF13A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIF13A Gene

Post-translational modifications for KIF13A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KIF13A Gene

Domains & Families for KIF13A Gene

Gene Families for KIF13A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KIF13A Gene

Suggested Antigen Peptide Sequences for KIF13A Gene

GenScript: Design optimal peptide antigens:
  • Kinesin-like protein RBKIN (KI13A_HUMAN)
  • Kinesin family member 13A (Q5JV47_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H1H9

UniProtKB/Swiss-Prot:

KI13A_HUMAN :
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
genes like me logo Genes that share domains with KIF13A: view

Function for KIF13A Gene

Molecular function for KIF13A Gene

UniProtKB/Swiss-Prot Function:
Plus end-directed microtubule-dependent motor protein involved in intracellular transport and regulating various processes such as mannose-6-phosphate receptor (M6PR) transport to the plasma membrane, endosomal sorting during melanosome biogenesis and cytokinesis. Mediates the transport of M6PR-containing vesicles from trans-Golgi network to the plasma membrane via direct interaction with the AP-1 complex. During melanosome maturation, required for delivering melanogenic enzymes from recycling endosomes to nascent melanosomes by creating peripheral recycling endosomal subdomains in melanocytes. Also required for the abcission step in cytokinesis: mediates translocation of ZFYVE26, and possibly TTC19, to the midbody during cytokinesis.

Phenotypes From GWAS Catalog for KIF13A Gene

Gene Ontology (GO) - Molecular Function for KIF13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity ISS --
GO:0005515 protein binding IPI 19841138
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with KIF13A: view
genes like me logo Genes that share phenotypes with KIF13A: view

Animal Models for KIF13A Gene

MGI Knock Outs for KIF13A:

Animal Model Products

  • Taconic Biosciences Mouse Models for KIF13A

miRNA for KIF13A Gene

miRTarBase miRNAs that target KIF13A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KIF13A Gene

Localization for KIF13A Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF13A Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Midbody. Endosome membrane. Golgi apparatus membrane. Note=Recruited to the midbody during cytokinesis.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIF13A gene
Compartment Confidence
cytoskeleton 5
endosome 5
cytosol 4
golgi apparatus 4
nucleus 3
plasma membrane 2
lysosome 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for KIF13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005813 centrosome IDA 20208530
genes like me logo Genes that share ontologies with KIF13A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KIF13A Gene

Pathways & Interactions for KIF13A Gene

genes like me logo Genes that share pathways with KIF13A: view

Pathways by source for KIF13A Gene

1 Qiagen pathway for KIF13A Gene
  • Reelin Pathway (Cajal-Retzius cells)

Gene Ontology (GO) - Biological Process for KIF13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IMP,IBA 20208530
GO:0007018 microtubule-based movement IBA 21873635
GO:0007049 cell cycle IEA --
GO:0008333 endosome to lysosome transport IMP 19841138
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with KIF13A: view

No data available for SIGNOR curated interactions for KIF13A Gene

Drugs & Compounds for KIF13A Gene

(1) Drugs for KIF13A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mannose 6-phosphate Investigational Pharma 0
genes like me logo Genes that share compounds with KIF13A: view

Transcripts for KIF13A Gene

mRNA/cDNA for KIF13A Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIF13A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^ 39a · 39b ^ 40
SP1: -
SP2: - -
SP3: - - - -
SP4: - - -
SP5:
SP6:

Relevant External Links for KIF13A Gene

GeneLoc Exon Structure for
KIF13A

Expression for KIF13A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KIF13A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KIF13A Gene

This gene is overexpressed in Plasma (14.6), Stomach (7.5), and Heart (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KIF13A Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIF13A

SOURCE GeneReport for Unigene cluster for KIF13A Gene:

Hs.94499

mRNA Expression by UniProt/SwissProt for KIF13A Gene:

Q9H1H9-KI13A_HUMAN
Tissue specificity: Widely expressed, with highest levels in heart, brain and skeletal muscle.

Evidence on tissue expression from TISSUES for KIF13A Gene

  • Nervous system(4.3)
  • Liver(4.2)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with KIF13A: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIF13A Gene

Orthologs for KIF13A Gene

This gene was present in the common ancestor of animals.

Orthologs for KIF13A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIF13A 31 30
  • 99.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KIF13A 31 30
  • 89.91 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KIF13A 31 30
  • 89.31 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kif13a 30
  • 85.63 (n)
mouse
(Mus musculus)
Mammalia Kif13a 17 31 30
  • 85.58 (n)
oppossum
(Monodelphis domestica)
Mammalia KIF13A 31
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIF13A 31
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIF13A 31 30
  • 79.43 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIF13A 31
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kif13a 30
  • 73.47 (n)
zebrafish
(Danio rerio)
Actinopterygii kif13a 31 30
  • 68.87 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007592 30
  • 58.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta Khc-73 32
  • 57 (a)
neb 32
  • 35 (a)
Kif19A 32
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea klp-4 32 30
  • 55.39 (n)
klp-6 32
  • 43 (a)
Species where no ortholog for KIF13A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KIF13A Gene

ENSEMBL:
Gene Tree for KIF13A (if available)
TreeFam:
Gene Tree for KIF13A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIF13A: view image

Paralogs for KIF13A Gene

(10) SIMAP similar genes for KIF13A Gene using alignment to 5 proteins:

  • KI13A_HUMAN
  • E9PDX3_HUMAN
  • H0Y307_HUMAN
  • H0Y925_HUMAN
  • H0Y9Z7_HUMAN
genes like me logo Genes that share paralogs with KIF13A: view

Variants for KIF13A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIF13A Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
712451 Likely Benign: not provided 17,804,499(-) G/A SYNONYMOUS_VARIANT
713152 Benign: not provided 17,764,665(-) G/C MISSENSE_VARIANT
770725 Benign: not provided 17,850,416(-) C/T SYNONYMOUS_VARIANT
771391 Benign: not provided 17,837,084(-) A/G SYNONYMOUS_VARIANT
784063 Benign: not provided 17,794,632(-) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for KIF13A Gene

Structural Variations from Database of Genomic Variants (DGV) for KIF13A Gene

Variant ID Type Subtype PubMed ID
dgv5922n100 CNV gain 25217958
esv23172 CNV loss 19812545
esv2658979 CNV deletion 23128226
esv2678875 CNV deletion 23128226
esv3567336 CNV deletion 23714750
esv3576102 CNV gain 25503493
esv3608221 CNV gain 21293372
esv3608223 CNV gain 21293372
esv3608224 CNV loss 21293372
esv3608227 CNV loss 21293372
esv3608228 CNV loss 21293372
esv3890794 CNV gain 25118596
nsv1015140 CNV gain 25217958
nsv1032900 CNV gain 25217958
nsv1074915 CNV deletion 25765185
nsv1109762 CNV deletion 24896259
nsv1114782 CNV deletion 24896259
nsv1145093 CNV deletion 24896259
nsv516012 CNV gain+loss 19592680
nsv601046 CNV gain 21841781
nsv601047 CNV gain 21841781
nsv830596 CNV gain 17160897
nsv830597 CNV loss 17160897
nsv950134 CNV duplication 24416366

Variation tolerance for KIF13A Gene

Residual Variation Intolerance Score: 28.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.57; 65.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIF13A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIF13A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIF13A Gene

Disorders for KIF13A Gene

MalaCards: The human disease database

(2) MalaCards diseases for KIF13A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
corneal dystrophy
fuchs' endothelial dystrophy
  • fced
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KIF13A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KIF13A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIF13A Gene

Publications for KIF13A Gene

  1. Genomic amplification in retinoblastoma narrowed to 0.6 megabase on chromosome 6p containing a kinesin-like gene, RBKIN. (PMID: 11861365) Chen D … Gallie BL (Cancer research 2002) 3 4 23 54
  2. A novel motor, KIF13A, transports mannose-6-phosphate receptor to plasma membrane through direct interaction with AP-1 complex. (PMID: 11106728) Nakagawa T … Hirokawa N (Cell 2000) 2 3 23 54
  3. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PMID: 22219177) Tao S … Sun J (Carcinogenesis 2012) 3 41 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody. (PMID: 20208530) Sagona AP … Stenmark H (Nature cell biology 2010) 3 4 54

Products for KIF13A Gene

Sources for KIF13A Gene