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Aliases for KIFAP3 Gene

Aliases for KIFAP3 Gene

  • Kinesin Associated Protein 3 2 3 5
  • Kinesin-Associated Protein 3 2 3
  • Smg GDS-Associated Protein 3 4
  • KAP-3 3 4
  • SMAP 3 4
  • KAP3 3 4
  • Small G Protein GDP Dissociation Stimulator 3
  • DJ190I16.1 3
  • Smg GDS 2
  • Smg-GDS 3
  • KIF3AP 4
  • KAP-1 3
  • FLA3 3

External Ids for KIFAP3 Gene

Previous GeneCards Identifiers for KIFAP3 Gene

  • GC01M167519
  • GC01M165541
  • GC01M166586
  • GC01M167077
  • GC01M166622
  • GC01M168157
  • GC01M141112

Summaries for KIFAP3 Gene

Entrez Gene Summary for KIFAP3 Gene

  • The small G protein GDP dissociation stimulator (smg GDS) is a regulator protein having two activities on a group of small G proteins including the Rho and Rap1 family members and Ki-Ras; one is to stimulate their GDP/GTP exchange reactions, and the other is to inhibit their interactions with membranes. The protein encoded by this gene contains 9 'Armadillo' repeats and interacts with the smg GDS protein through these repeats. This protein, which is highly concentrated around the endoplasmic reticulum, is phosphorylated by v-src, and this phosphorylation reduces the affinity of the protein for smg GDS. It is thought that this protein serves as a linker between human chromosome-associated polypeptide (HCAP) and KIF3A/B, a kinesin superfamily protein in the nucleus, and that it plays a role in the interaction of chromosomes with an ATPase motor protein. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

GeneCards Summary for KIFAP3 Gene

KIFAP3 (Kinesin Associated Protein 3) is a Protein Coding gene. Diseases associated with KIFAP3 include Kartagener Syndrome and Amyotrophic Lateral Sclerosis 1. Among its related pathways are Immune System and Organelle biogenesis and maintenance. GO annotations related to this gene include binding and kinesin binding.

UniProtKB/Swiss-Prot for KIFAP3 Gene

  • Involved in tethering the chromosomes to the spindle pole and in chromosome movement. Binds to the tail domain of the KIF3A/KIF3B heterodimer to form a heterotrimeric KIF3 complex and may regulate the membrane binding of this complex (By similarity).

Gene Wiki entry for KIFAP3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIFAP3 Gene

Genomics for KIFAP3 Gene

Regulatory Elements for KIFAP3 Gene

Enhancers for KIFAP3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F170062 0.9 ENCODE 25.8 +22.0 22005 1.1 PKNOX1 ZNF316 GATA3 CTBP1 NFE2 FOSL2 FOS NR2F6 MAFK DPF2 METTL18 KIFAP3 LOC105371608
GH01F169998 0.6 Ensembl ENCODE 25.3 +85.9 85944 2.2 FEZF1 FOS MAFK ZNF843 NFE2L2 METTL18 KIFAP3 ENSG00000232959 MRPS10P1 GC01M170021
GH01F170134 0.2 ENCODE 22.4 -49.4 -49426 0.9 ZNF146 KIFAP3 METTL11B SIGLEC30P
GH01F170145 0.2 ENCODE 21.9 -61.0 -61009 0.7 SIX4 TEAD4 FEZF1 ZIC2 GATA3 ZNF366 PRDM10 ZNF600 ZNF362 MAZ KIFAP3 METTL18 ENSG00000213062 METTL11B MIR3119-2
GH01F169889 1 FANTOM5 Ensembl ENCODE 17 +193.0 192972 5.5 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 METTL18 KIFAP3 MRPS10P1 ENSG00000230704 ENSG00000232959 HAUS4P1 RPL29P7 GORAB SCYL3 C1orf112
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KIFAP3 on UCSC Golden Path with GeneCards custom track

Genomic Location for KIFAP3 Gene

Chromosome:
1
Start:
169,921,326 bp from pter
End:
170,085,208 bp from pter
Size:
163,883 bases
Orientation:
Minus strand

Genomic View for KIFAP3 Gene

Genes around KIFAP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIFAP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIFAP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIFAP3 Gene

Proteins for KIFAP3 Gene

  • Protein details for KIFAP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92845-KIFA3_HUMAN
    Recommended name:
    Kinesin-associated protein 3
    Protein Accession:
    Q92845
    Secondary Accessions:
    • B1AKU4
    • B1AKU5
    • B2RDL1
    • B7Z8A3
    • F5H591
    • Q8NHU7
    • Q9H416

    Protein attributes for KIFAP3 Gene

    Size:
    792 amino acids
    Molecular mass:
    91205 Da
    Quaternary structure:
    • Heterotrimer of KIFAP3, KIF3A and KIF3B. Interacts with RAP1GDS1/SMG GDS. Interacts with SMC3 subunit of the cohesin complex.

    Alternative splice isoforms for KIFAP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIFAP3 Gene

Post-translational modifications for KIFAP3 Gene

  • Phosphorylated on tyrosine residues by SRC in vitro; this reduces the binding affinity of the protein for RAP1GDS1.
  • Ubiquitination at Lys 469, Lys 477, and Lys 485
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIFAP3 Gene

Domains & Families for KIFAP3 Gene

Protein Domains for KIFAP3 Gene

Graphical View of Domain Structure for InterPro Entry

Q92845

UniProtKB/Swiss-Prot:

KIFA3_HUMAN :
  • Contains 5 ARM repeats.
Similarity:
  • Contains 5 ARM repeats.
genes like me logo Genes that share domains with KIFAP3: view

No data available for Gene Families for KIFAP3 Gene

Function for KIFAP3 Gene

Molecular function for KIFAP3 Gene

UniProtKB/Swiss-Prot Function:
Involved in tethering the chromosomes to the spindle pole and in chromosome movement. Binds to the tail domain of the KIF3A/KIF3B heterodimer to form a heterotrimeric KIF3 complex and may regulate the membrane binding of this complex (By similarity).

Gene Ontology (GO) - Molecular Function for KIFAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9506951
GO:0019894 kinesin binding IPI 16298999
genes like me logo Genes that share ontologies with KIFAP3: view
genes like me logo Genes that share phenotypes with KIFAP3: view

Animal Models for KIFAP3 Gene

MGI Knock Outs for KIFAP3:

Animal Model Products

miRNA for KIFAP3 Gene

miRTarBase miRNAs that target KIFAP3

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KIFAP3 Gene

Localization for KIFAP3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIFAP3 Gene COMPARTMENTS Subcellular localization image for KIFAP3 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 5
endoplasmic reticulum 4
golgi apparatus 2
plasma membrane 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KIFAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000794 condensed nuclear chromosome IDA 16298999
GO:0005783 endoplasmic reticulum IEA,TAS --
GO:0005794 Golgi apparatus IEA --
GO:0005813 centrosome IDA 16298999
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with KIFAP3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KIFAP3 Gene

Pathways & Interactions for KIFAP3 Gene

genes like me logo Genes that share pathways with KIFAP3: view

Gene Ontology (GO) - Biological Process for KIFAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly TAS 8900189
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0007017 microtubule-based process ISS --
GO:0007018 microtubule-based movement TAS --
GO:0007165 signal transduction TAS 8900189
genes like me logo Genes that share ontologies with KIFAP3: view

No data available for SIGNOR curated interactions for KIFAP3 Gene

Drugs & Compounds for KIFAP3 Gene

(1) Drugs for KIFAP3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for KIFAP3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KIFAP3: view

Transcripts for KIFAP3 Gene

Unigene Clusters for KIFAP3 Gene

Kinesin-associated protein 3:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIFAP3 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b
SP1: -
SP2:
SP3: -
SP4:

Relevant External Links for KIFAP3 Gene

GeneLoc Exon Structure for
KIFAP3
ECgene alternative splicing isoforms for
KIFAP3

Expression for KIFAP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KIFAP3 Gene

Protein differential expression in normal tissues from HIPED for KIFAP3 Gene

This gene is overexpressed in Fetal Brain (10.3), Urine (7.8), and Adrenal (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KIFAP3 Gene



Protein tissue co-expression partners for KIFAP3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KIFAP3 Gene:

KIFAP3

SOURCE GeneReport for Unigene cluster for KIFAP3 Gene:

Hs.433442
genes like me logo Genes that share expression patterns with KIFAP3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KIFAP3 Gene

Orthologs for KIFAP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIFAP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIFAP3 34 35
  • 99.62 (n)
oppossum
(Monodelphis domestica)
Mammalia KIFAP3 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIFAP3 34 35
  • 94.87 (n)
cow
(Bos Taurus)
Mammalia KIFAP3 34 35
  • 94.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KIFAP3 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kifap3 34 16 35
  • 89.23 (n)
rat
(Rattus norvegicus)
Mammalia Kifap3 34
  • 89.08 (n)
chicken
(Gallus gallus)
Aves KIFAP3 34 35
  • 82.76 (n)
lizard
(Anolis carolinensis)
Reptilia KIFAP3 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kifap3 34
  • 79.08 (n)
Str.19013 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3217 34
zebrafish
(Danio rerio)
Actinopterygii kifap3b 35
  • 78 (a)
OneToMany
kifap3a 34 35
  • 73.23 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4647 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000187 34
  • 55.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta Kap3 34 35
  • 54.04 (n)
Kap 36
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea kap-1 34 35
  • 51.11 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2089 35
  • 59 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5167 34
Species where no ortholog for KIFAP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 KIFAP3 Gene

ENSEMBL:
Gene Tree for KIFAP3 (if available)
TreeFam:
Gene Tree for KIFAP3 (if available)

Paralogs for KIFAP3 Gene

No data available for Paralogs for KIFAP3 Gene

Variants for KIFAP3 Gene

Sequence variations from dbSNP and Humsavar for KIFAP3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10127867 -- 170,049,135(+) cttgg(C/T)tgggg intron-variant
rs10218486 -- 170,012,922(+) tatgc(A/G)gaaaa intron-variant
rs10494479 -- 170,058,357(+) gagcc(A/G)tttta intron-variant
rs10525923 -- 169,973,124(+) ATATA(A/G)ACAAC intron-variant
rs10551892 -- 170,003,608(+) TTGTC(-/TGTT)TGTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIFAP3 Gene

Variant ID Type Subtype PubMed ID
dgv460n100 CNV loss 25217958
dgv461n100 CNV loss 25217958
dgv462n100 CNV loss 25217958
dgv463n100 CNV loss 25217958
dgv464n100 CNV loss 25217958
esv2430109 CNV deletion 19546169
esv3307480 CNV mobile element insertion 20981092
esv3378787 CNV insertion 20981092
nsv1010370 CNV loss 25217958
nsv1078878 OTHER inversion 25765185
nsv1120201 CNV tandem duplication 24896259
nsv433500 CNV loss 18776910
nsv474850 CNV novel sequence insertion 20440878

Variation tolerance for KIFAP3 Gene

Residual Variation Intolerance Score: 12.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIFAP3 Gene

Human Gene Mutation Database (HGMD)
KIFAP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIFAP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIFAP3 Gene

Disorders for KIFAP3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KIFAP3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
kartagener syndrome
  • kartagener's syndrome
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KIFAP3

Genetic Association Database (GAD)
KIFAP3
Human Genome Epidemiology (HuGE) Navigator
KIFAP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIFAP3
genes like me logo Genes that share disorders with KIFAP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIFAP3 Gene

Publications for KIFAP3 Gene

  1. SMAP, an Smg GDS-associating protein having arm repeats and phosphorylated by src tyrosine kinase. (PMID: 8900189) Shimizu K. … Takai Y. (J. Biol. Chem. 1996) 2 3 4 22 64
  2. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. (PMID: 19451621) Landers J.E. … Brown R.H. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 22 46 64
  3. Complex formation of SMAP/KAP3, a KIF3A/B ATPase motor-associated protein, with a human chromosome-associated polypeptide. (PMID: 9506951) Shimizu K. … Takai Y. (J. Biol. Chem. 1998) 3 4 22 64
  4. Inherited genetic variant predisposes to aggressive but not indolent prostate cancer. (PMID: 20080650) Xu J. … Isaacs W.B. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 46 64
  5. Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients. (PMID: 20566859) Traynor B.J. … ChiA^ A. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 46 64

Products for KIFAP3 Gene

Sources for KIFAP3 Gene

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