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

Gene ID: 22920, updated on 4-Jan-2025

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
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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

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)

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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_001204514.2NP_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:39642
    KAP; Kinesin-associated protein (KAP)
  2. NM_001204516.2NP_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_001204517.2NP_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:1680
    KAP; Kinesin-associated protein (KAP)
  4. NM_001375830.1NP_001362759.1  kinesin-associated protein 3 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL121714, AL356475
    Conserved Domains (1) summary
    pfam05804
    Location:13720
    KAP; Kinesin-associated protein (KAP)
  5. NM_001375831.1NP_001362760.1  kinesin-associated protein 3 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL121714, AL356475
    Conserved Domains (1) summary
    pfam05804
    Location:13720
    KAP; Kinesin-associated protein (KAP)
  6. 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
    B1AKU4, B1AKU5, B2RDL1, B7Z8A3, F5H591, Q8NHU7, Q92845, Q9H416
    Related
    ENSP00000354560.2, ENST00000361580.7
    Conserved Domains (1) summary
    pfam05804
    Location:13720
    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_024454186.2XP_024309954.1  kinesin-associated protein 3 isoform X1

    UniProtKB/TrEMBL
    A0AAQ5BGI3
    Related
    ENSP00000518914.1, ENST00000490550.2
    Conserved Domains (1) summary
    pfam05804
    Location:28735
    KAP; Kinesin-associated protein (KAP)
  2. XM_047449531.1XP_047305487.1  kinesin-associated protein 3 isoform X2

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

  4. XM_047449537.1XP_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_054335212.1XP_054191187.1  kinesin-associated protein 3 isoform X1

    UniProtKB/TrEMBL
    A0AAQ5BGI3
  2. XM_054335213.1XP_054191188.1  kinesin-associated protein 3 isoform X2

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

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