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 interac... See more...

Aliases for KIFAP3 Gene

Aliases for KIFAP3 Gene

  • Kinesin Associated Protein 3 2 3 5
  • Kinesin-Associated Protein 3 2 3 4
  • KAP3 2 3 4
  • SMAP 2 3 4
  • Smg GDS-Associated Protein 3 4
  • KAP-1 2 3
  • KAP-3 3 4
  • FLA3 2 3
  • Small G Protein GDP Dissociation Stimulator 3
  • DJ190I16.1 3
  • Smg GDS 2
  • Smg-GDS 3
  • KIFAP3 5
  • KIF3AP 4

External Ids for KIFAP3 Gene

Previous GeneCards Identifiers for KIFAP3 Gene

  • GC01M167519
  • GC01M165541
  • GC01M166586
  • GC01M167077
  • GC01M166622
  • GC01M168157
  • GC01M169890
  • 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 Progressive Bulbar Palsy and Amyotrophic Lateral Sclerosis 1. Among its related pathways are Organelle biogenesis and maintenance and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include binding and kinesin binding.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIFAP3 Gene

Genomics for KIFAP3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KIFAP3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J170072 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 615.4 +10.9 10935 2.7 CREB1 GATAD2A CTCF PRDM10 ZNF629 RFX1 IKZF1 POLR2A BACH1 FOXA1 KIFAP3 METTL18 C1orf112 LOC105371608 SCYL3
GH01J169889 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17 +192.9 192875 5.7 CREB1 GATAD2A HNRNPL ATF7 PRDM10 ZNF629 REST ZNF512 SIX5 IKZF1 SCYL3 METTL18 C1orf112 KIFAP3 RN7SL333P piR-36573-005
GH01J170062 Enhancer 0.9 Ensembl ENCODE 25.9 +22.0 21982 1.2 JUND PHF21A PKNOX1 SOX6 HMBOX1 CTBP1 ZNF316 ZNF217 GATAD2B FOSL1 METTL18 KIFAP3 LOC105371608 SCYL3
GH01J170145 Promoter/Enhancer 1 Ensembl ENCODE 21.9 -61.2 -61232 1.1 TEAD4 PRDM10 ZNF629 ZIC2 POLR2A ZNF600 ZNF341 RAD21 ZNF10 ZNF184 METTL11B KIFAP3 METTL18 MIR3119-2 GORAB
GH01J169934 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 17.2 +150.8 150791 1.2 ZNF629 ZNF561 ZXDB OSR2 ZNF580 BCL11A RCOR1 ZBTB17 ZNF217 EP300 METTL18 KIFAP3 ENSG00000230704 ENSG00000288139 lnc-SCYL3-1 RF00017-391 RN7SL269P SCYL3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIFAP3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIFAP3

Top Transcription factor binding sites by QIAGEN in the KIFAP3 gene promoter:
  • c-Myb
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GR
  • GR-alpha
  • Ik-2

Genomic Locations for KIFAP3 Gene

Genomic Locations for KIFAP3 Gene
chr1:169,921,326-170,085,208
(GRCh38/hg38)
Size:
163,883 bases
Orientation:
Minus strand
chr1:169,890,467-170,054,349
(GRCh37/hg19)
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 Lys59, Lys469, Lys477, and Lys485
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIFAP3 Gene

Domains & Families for KIFAP3 Gene

Gene Families for KIFAP3 Gene

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

Protein Domains for KIFAP3 Gene

InterPro:
Blocks:
  • Armadillo repeat
  • Kinesin-associated
ProtoNet:

Suggested Antigen Peptide Sequences for KIFAP3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54024, highly similar to Kinesin-associated protein 3 (B1AKU5_HUMAN)
  • cDNA FLJ53234, highly similar to Kinesin-associated protein 3 (B7Z7E7_HUMAN)
  • Smg GDS-associated protein (KIFA3_HUMAN)
genes like me logo Genes that share domains with KIFAP3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for KIFAP3 Gene

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
GO:0019903 protein phosphatase binding IPI 24338362
GO:0120170 intraciliary transport particle B binding IEA --
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

CRISPR Products

miRNA for KIFAP3 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIFAP3

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
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 KIFAP3 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
endoplasmic reticulum 4
cytosol 4
plasma membrane 3
golgi apparatus 3
mitochondrion 2
extracellular 1
endosome 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for KIFAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000794 condensed nuclear chromosome IDA 16298999
GO:0005623 cell IEA --
GO:0005783 endoplasmic reticulum TAS,IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005813 centrosome IDA 16298999
genes like me logo Genes that share ontologies with KIFAP3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KIFAP3 Gene

Pathways & Interactions for KIFAP3 Gene

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

Pathways by source for KIFAP3 Gene

5 GeneGo (Thomson Reuters) pathways for KIFAP3 Gene
  • G-protein signaling_K-RAS regulation pathway
  • G-protein signaling_Rap1A regulation pathway
  • G-protein signaling_Rap1B regulation pathway
  • G-protein signaling_Regulation of RAC1 activity
  • G-protein signaling_RhoA regulation pathway

Gene Ontology (GO) - Biological Process for KIFAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
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
GO:0008104 protein localization IEA --
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

(2) Drugs for KIFAP3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) 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

mRNA/cDNA for KIFAP3 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIFAP3

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

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, MaxQB, and MOPED for KIFAP3 Gene



Protein tissue co-expression partners for KIFAP3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIFAP3

SOURCE GeneReport for Unigene cluster for KIFAP3 Gene:

Hs.433442

Evidence on tissue expression from TISSUES for KIFAP3 Gene

  • Nervous system(5)
  • Liver(4.5)
  • Eye(2.5)
  • Muscle(2.3)
  • Blood(2.2)
  • Kidney(2.2)
  • Skin(2.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with KIFAP3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.62 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KIFAP3 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia KIFAP3 30 31
  • 94.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KIFAP3 30 31
  • 94.7 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KIFAP3 31
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Kifap3 30 17 31
  • 89.23 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kifap3 30
  • 89.08 (n)
Chicken
(Gallus gallus)
Aves KIFAP3 30 31
  • 82.76 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KIFAP3 31
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kifap3 30
  • 79.08 (n)
Str.19013 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.3217 30
Zebrafish
(Danio rerio)
Actinopterygii kifap3b 31
  • 78 (a)
OneToMany
kifap3a 30 31
  • 73.23 (n)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4647 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000187 30
  • 55.62 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Kap3 30 31
  • 54.04 (n)
OneToOne
Kap 32
  • 46 (a)
Worm
(Caenorhabditis elegans)
Secernentea kap-1 30 31
  • 51.11 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2089 31
  • 59 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5167 30
Species where no ortholog for KIFAP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for KIFAP3: view image

Paralogs for KIFAP3 Gene

No data available for Paralogs for KIFAP3 Gene

Variants for KIFAP3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIFAP3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs12075833 - p.Ser513Ala

Additional dbSNP identifiers (rs#s) for KIFAP3 Gene

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
progressive bulbar palsy
  • progressive bulbar atrophy
amyotrophic lateral sclerosis 1
  • als1
joubert syndrome 1
  • jbts1
retinitis pigmentosa
  • retinitis pigmentosa 1
kartagener syndrome
  • kartagener's syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KIFAP3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (The Journal of biological chemistry 1996) 2 3 4 23
  2. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. (PMID: 19451621) Landers JE … Brown RH (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 23 41
  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 (The Journal of biological chemistry 1998) 3 4 23
  4. Inherited genetic variant predisposes to aggressive but not indolent prostate cancer. (PMID: 20080650) Xu J … Isaacs WB (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 41
  5. Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients. (PMID: 20566859) Traynor BJ … Chiò A (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 41

Products for KIFAP3 Gene

Sources for KIFAP3 Gene