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KIFAP3 kinesin associated protein 3 [ Homo sapiens (human) ]

Gene ID: 22920, updated on 17-Jun-2019

Summary

Official Symbol
KIFAP3provided by HGNC
Official Full Name
kinesin associated protein 3provided by HGNC
Primary source
HGNC:HGNC:17060
See related
Ensembl:ENSG00000075945 MIM:601836
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
FLA3; KAP3; SMAP; KAP-1; KAP-3; Smg-GDS; dJ190I16.1
Summary
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]
Expression
Broad expression in brain (RPKM 27.3), testis (RPKM 15.2) and 24 other tissues See more
Orthologs

Genomic context

See KIFAP3 in Genome Data Viewer
Location:
1q24.2
Exon count:
25
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (169921326..170085203, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (169890461..170043882, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene chromosome 1 open reading frame 112 Neighboring gene methyltransferase like 18 Neighboring gene RNA, 7SL, cytoplasmic 333, pseudogene Neighboring gene SCY1 like pseudokinase 3 Neighboring gene VISTA enhancer hs1442 Neighboring gene RNA, 7SL, cytoplasmic 269, pseudogene Neighboring gene mitochondrial ribosomal protein S10 pseudogene 1 Neighboring gene uncharacterized LOC105371608 Neighboring gene sialic acid binding Ig like lectin 30, pseudogene Neighboring gene methyltransferase like 11B Neighboring gene microRNA 3119-1 Neighboring gene microRNA 3119-2

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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
integrase gag-pol Using acetylated HIV-1 IN as bait in yeast two-hybrid screening identifies transcription regulatory and chromatin remodeling factors LEDGF/p75, KAP1, BTF3b, THRAP3, and HMGN2 as IN-binding partners PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystem (from REACTOME)
    COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER is mediated in part by microtubule-directed COPI-coated vesicles (Letourneur et al, 1994; Shima et al, 1999; Spang et al, 1998; reviewed i...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Golgi-to-ER retrograde transport, organism-specific biosystem (from REACTOME)
    Golgi-to-ER retrograde transport, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER occurs through either COPI-coated vesicles or through a less well characterized RAB6-dependent route that makes use of tubular carriers (r...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Intraflagellar transport, organism-specific biosystem (from REACTOME)
    Intraflagellar transport, organism-specific biosystemIntraflagellar transport (IFT) is a motor-based process that controls the anterograde and retrograde transport of large protein complexes, ciliary cargo and structural components along the ciliary ax...
  • Kinesins, organism-specific biosystem (from REACTOME)
    Kinesins, organism-specific biosystemKinesins are a superfamily of microtubule-based motor proteins that have diverse functions in transport of vesicles, organelles and chromosomes, and regulate microtubule dynamics. There are 14 famil...
  • MHC class II antigen presentation, organism-specific biosystem (from REACTOME)
    MHC class II antigen presentation, organism-specific biosystemAntigen presenting cells (APCs) such as B cells, dendritic cells (DCs) and monocytes/macrophages express major histocompatibility complex class II molecules (MHC II) at their surface and present exog...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Translocation of GLUT4 to the plasma membrane, organism-specific biosystem (from REACTOME)
    Translocation of GLUT4 to the plasma membrane, organism-specific biosystemIn adipocytes and myocytes insulin signaling causes intracellular vesicles carrying the GLUT4 (SLC2A4) glucose transporter to translocate to the plasma membrane, allowing the cells to take up glucose...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22818

Gene Ontology Provided by GOA

Function Evidence Code Pubs
intraciliary transport particle B binding IEA
Inferred from Electronic Annotation
more info
 
kinesin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
axoneme IEA
Inferred from Electronic Annotation
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IEA
Inferred from Electronic Annotation
more info
 
ciliary tip TAS
Traceable Author Statement
more info
 
cilium TAS
Traceable Author Statement
more info
 
condensed nuclear chromosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
kinesin II complex IDA
Inferred from Direct Assay
more info
PubMed 
kinesin II complex ISS
Inferred from Sequence or Structural Similarity
more info
 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
periciliary membrane compartment IEA
Inferred from Electronic Annotation
more info
 
photoreceptor connecting cilium IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with spindle microtubule IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
kinesin-associated protein 3
Names
small G protein GDP dissociation stimulator
smg GDS-associated protein

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_012883.3 RefSeqGene

    Range
    5001..158410
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204514.1NP_001191443.1  kinesin-associated protein 3 isoform 2

    See identical proteins and their annotated locations for NP_001191443.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is longer at the N-terminus compared to isoform 1.
    Source sequence(s)
    AI085654, AK303052, BC028679, DA144269
    Consensus CDS
    CCDS55659.1
    UniProtKB/Swiss-Prot
    Q92845
    Related
    ENSP00000444622.1, ENST00000538366.5
    Conserved Domains (1) summary
    pfam05804
    Location:39642
    KAP; Kinesin-associated protein (KAP)
  2. NM_001204516.1NP_001191445.1  kinesin-associated protein 3 isoform 3

    See identical proteins and their annotated locations for NP_001191445.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AI085654, AK297368, BC028679, DA144269
    Consensus CDS
    CCDS55661.1
    UniProtKB/Swiss-Prot
    Q92845
    Related
    ENSP00000356741.1, ENST00000367767.5
    Conserved Domains (1) summary
    pfam05804
    Location:1676
    KAP; Kinesin-associated protein (KAP)
  3. NM_001204517.1NP_001191446.1  kinesin-associated protein 3 isoform 4

    See identical proteins and their annotated locations for NP_001191446.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AI085654, AK122897, BC028679
    Consensus CDS
    CCDS55660.1
    UniProtKB/Swiss-Prot
    Q92845
    Related
    ENSP00000356739.1, ENST00000367765.5
    Conserved Domains (1) summary
    pfam05804
    Location:1680
    KAP; Kinesin-associated protein (KAP)
  4. NM_014970.4NP_055785.2  kinesin-associated protein 3 isoform 1

    See identical proteins and their annotated locations for NP_055785.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AI085654, AK315586, BC028679, DA144269
    Consensus CDS
    CCDS1288.1
    UniProtKB/Swiss-Prot
    Q92845
    Related
    ENSP00000354560.2, ENST00000361580.7
    Conserved Domains (1) summary
    pfam05804
    Location:13720
    KAP; Kinesin-associated protein (KAP)

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    169921326..170085203 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454186.1XP_024309954.1  kinesin-associated protein 3 isoform X1

    Conserved Domains (1) summary
    pfam05804
    Location:28735
    KAP; Kinesin-associated protein (KAP)
  2. XM_024454187.1XP_024309955.1  kinesin-associated protein 3 isoform X3

    Conserved Domains (1) summary
    pfam05804
    Location:28735
    KAP; Kinesin-associated protein (KAP)
  3. XM_011509307.3XP_011507609.2  kinesin-associated protein 3 isoform X4

    Conserved Domains (2) summary
    cd00020
    Location:540662
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam05804
    Location:13720
    KAP; Kinesin-associated protein (KAP)
  4. XM_005244970.2XP_005245027.1  kinesin-associated protein 3 isoform X2

    Conserved Domains (2) summary
    cd00020
    Location:540662
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam05804
    Location:13720
    KAP; Kinesin-associated protein (KAP)
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