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

    Gene ID: 22920, updated on 10-Dec-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KIFAP3 in Genome Data Viewer
    Location:
    1q24.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (169921329..170085184, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (169277046..169441099, complement)
    RS_2024_09 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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (16 hits/1271 screens)

    EBI GWAS Catalog

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

    Interactions

    General gene information

    Clone Names

    • FLJ22818

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables intraciliary transport particle B binding  
    enables kinesin binding PubMed 
    enables protein binding PubMed 
    enables protein phosphatase binding PubMed 
    Process Evidence Code Pubs
    involved_in anterograde dendritic transport of neurotransmitter receptor complex  
    involved_in cardiac muscle cell apoptotic process  
    involved_in cilium organization  
    involved_in microtubule-based movement  
    involved_in microtubule-based process  
    involved_in negative regulation of cardiac muscle cell apoptotic process  
    involved_in negative regulation of neuroblast proliferation  
    involved_in negative regulation of thymocyte apoptotic process  
    involved_in neuroblast proliferation  
    involved_in plus-end-directed vesicle transport along microtubule PubMed 
    involved_in positive regulation of calcium-dependent cell-cell adhesion  
    involved_in protein localization  
    involved_in protein-containing complex assembly PubMed 
    involved_in signal transduction PubMed 
    involved_in thymocyte apoptotic process  
    Items 1 - 20 of 22
    Component Evidence Code Pubs
    located_in Golgi apparatus  
    is_active_in axoneme  
    located_in centrosome PubMed 
    located_in ciliary basal body  
    located_in ciliary tip  
    is_active_in ciliary transition zone  
    located_in cilium  
    located_in condensed nuclear chromosome PubMed 
    located_in cytosol  
    located_in dendrite cytoplasm  
    located_in endoplasmic reticulum  
    located_in glutamatergic synapse  
    part_of kinesin II complex  
    part_of kinesin II complex PubMed 
    part_of kinesin II complex  
    located_in microtubule cytoskeleton PubMed 
    located_in periciliary membrane compartment  
    located_in photoreceptor connecting cilium  
    located_in photoreceptor inner segment  
    located_in photoreceptor outer segment  
    located_in postsynapse  
    colocalizes_with spindle microtubule PubMed 
    Items 1 - 20 of 22

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_2024_08

    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

      UniProtKB/TrEMBL
      A0AAQ5BGI3
      Related
      ENSP00000518914.1, ENST00000490550.2
      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

      UniProtKB/TrEMBL
      A0AAQ5BGI3
    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

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