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

Gene ID: 22920, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:17060
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
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Genomic context

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Location:
1q24.2
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (169921329..170085184, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (169277046..169441099, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (169890470..170043836, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2079 Neighboring gene methyltransferase 18, RPL3 N3(tau)-histidine Neighboring gene FIGNL1 interacting regulator of recombination and mitosis Neighboring gene MPRA-validated peak450 silencer Neighboring gene RNA, 7SL, cytoplasmic 333, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2080 Neighboring gene SCY1 like pseudokinase 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:169862205-169862792 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:169862793-169863380 Neighboring gene VISTA enhancer hs1442 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:169914181-169914349 Neighboring gene RNA, 7SL, cytoplasmic 269, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:169972353-169972990 Neighboring gene mitochondrial ribosomal protein S10 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2083 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1549 Neighboring gene sialic acid binding Ig like lectin 30, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:170114681-170115212 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:170115213-170115743 Neighboring gene microRNA 3119-1 Neighboring gene microRNA 3119-2 Neighboring gene N-terminal Xaa-Pro-Lys N-methyltransferase 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Loss of KAP3 decreases intercellular adhesion and impairs intracellular transport of laminin in signet ring cell carcinoma of the stomach. Soda T, et al. Sci Rep, 2022 Mar 23. PMID 35322078, Free PMC Article
  2. Further analysis of KIFAP3 gene in ALS patients from Switzerland and Sweden. Czell D, et al. Amyotroph Lateral Scler Frontotemporal Degener, 2017 May. PMID 28140676
  3. Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study. van Doormaal PT, et al. Neurobiol Aging, 2014 Oct. PMID 24838185, Free PMC Article
  4. Genetic variation in KIFAP3 is associated with an upper motor neuron-predominant phenotype in amyotrophic lateral sclerosis. Orsetti V, et al. Neurodegener Dis, 2011. PMID 21659726
  5. Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients. Traynor BJ, et al. Proc Natl Acad Sci U S A, 2010 Jul 6. PMID 20566859, Free PMC Article

See all (62) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel regulatory roles of small G protein GDP dissociation stimulator (smgGDS) in insulin secretion from pancreatic beta-cells.
    Title: Novel regulatory roles of small G protein GDP dissociation stimulator (smgGDS) in insulin secretion from pancreatic β-cells.
  2. Loss of KAP3 decreases intercellular adhesion and impairs intracellular transport of laminin in signet ring cell carcinoma of the stomach.
    Title: Loss of KAP3 decreases intercellular adhesion and impairs intracellular transport of laminin in signet ring cell carcinoma of the stomach.
  3. Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma.
    Title: Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma.
  4. Analysis of KAP1 expression patterns and human endogenous retrovirus Env proteins in ovarian cancer.
    Title: Analysis of KAP1 expression patterns and human endogenous retrovirus Env proteins in ovarian cancer.
  5. This study does not show an influence of KIFAP3 variants on survival in the studied Swiss and Swedish cohort
    Title: Further analysis of KIFAP3 gene in ALS patients from Switzerland and Sweden.
  6. These data suggest that GLI interactions with KIF3A-KIF3B-KAP3 complexes are essential for proper GLI transcriptional activity.
    Title: The heterotrimeric kinesin-2 complex interacts with and regulates GLI protein function.
  7. Common genetic variation in the Kinesin-Associated Protein 3 (KIFAP3) gene (rs1541160) was reported to have a significant effect on survival in amyotrophic lateral sclerosis patients.
    Title: Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study.
  8. The incidence of the motor neuron-predominant amyotrophic lateral sclerosis phenotype in the patients of this cohort supports the hypothesis that the SNP within the KIFAP3 gene is a potential modifier of the amyotrophic lateral sclerosis phenotype
    Title: Genetic variation in KIFAP3 is associated with an upper motor neuron-predominant phenotype in amyotrophic lateral sclerosis.
  9. Data clearly show that SNP rs1541160 does not modify survival within cohort of 504 Italian ALS cases.
    Title: Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients.
  10. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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 PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ22818

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables intraciliary transport particle B binding IEA
Inferred from Electronic Annotation
more info
  
enables kinesin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein phosphatase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cardiac muscle cell apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in microtubule-based process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of cardiac muscle cell apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of thymocyte apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in plus-end-directed vesicle transport along microtubule TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of calcium-dependent cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization IEA
Inferred from Electronic Annotation
more info
  
involved_in protein-containing complex assembly TAS
Traceable Author Statement
more info
 PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in thymocyte apoptotic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
is_active_in axoneme IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ciliary basal body IEA
Inferred from Electronic Annotation
more info
  
located_in ciliary tip TAS
Traceable Author Statement
more info
  
is_active_in ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cilium TAS
Traceable Author Statement
more info
  
located_in condensed nuclear chromosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
part_of kinesin II complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of kinesin II complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of kinesin II complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 PubMed 
located_in periciliary membrane compartment IEA
Inferred from Electronic Annotation
more info
  
located_in photoreceptor connecting cilium IEA
Inferred from Electronic Annotation
more info
  
located_in photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
  
located_in photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
  
colocalizes_with spindle microtubule IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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_012883.4 RefSeqGene

    Range
    15489..168855
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204514.2 → NP_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
    Consensus CDS
    CCDS55659.1
    UniProtKB/Swiss-Prot
    Q92845
    Related
    ENSP00000444622.1, ENST00000538366.5
    Conserved Domains (1) summary
    pfam05804
    Location:39 → 642
    KAP; Kinesin-associated protein (KAP)

  2. NM_001204516.2 → NP_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:1 → 676
    KAP; Kinesin-associated protein (KAP)

  3. NM_001204517.2 → NP_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, AL356475, BC028679
    Consensus CDS
    CCDS55660.1
    UniProtKB/Swiss-Prot
    Q92845
    Related
    ENSP00000356739.1, ENST00000367765.5
    Conserved Domains (1) summary
    pfam05804
    Location:1 → 680
    KAP; Kinesin-associated protein (KAP)

  4. NM_001375830.1 → NP_001362759.1  kinesin-associated protein 3 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL121714, AL356475
    Conserved Domains (1) summary
    pfam05804
    Location:13 → 720
    KAP; Kinesin-associated protein (KAP)

  5. NM_001375831.1 → NP_001362760.1  kinesin-associated protein 3 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL121714, AL356475
    Conserved Domains (1) summary
    pfam05804
    Location:13 → 720
    KAP; Kinesin-associated protein (KAP)

  6. NM_014970.4 → NP_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
    B1AKU4, B1AKU5, B2RDL1, B7Z8A3, F5H591, Q8NHU7, Q92845, Q9H416
    Related
    ENSP00000354560.2, ENST00000361580.7
    Conserved Domains (1) summary
    pfam05804
    Location:13 → 720
    KAP; Kinesin-associated protein (KAP)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    169921329..170085184 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454186.2 → XP_024309954.1  kinesin-associated protein 3 isoform X1

    Conserved Domains (1) summary
    pfam05804
    Location:28 → 735
    KAP; Kinesin-associated protein (KAP)

  2. XM_047449531.1 → XP_047305487.1  kinesin-associated protein 3 isoform X2

  3. XM_047449532.1 → XP_047305488.1  kinesin-associated protein 3 isoform X3

  4. XM_047449537.1 → XP_047305493.1  kinesin-associated protein 3 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    169277046..169441099 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054335212.1 → XP_054191187.1  kinesin-associated protein 3 isoform X1

  2. XM_054335213.1 → XP_054191188.1  kinesin-associated protein 3 isoform X2

  3. XM_054335214.1 → XP_054191189.1  kinesin-associated protein 3 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92845.2 GenPept UniProtKB/Swiss-Prot:Q92845

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