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

Gene ID: 22920, updated on 6-May-2021

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
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Genomic context

See KIFAP3 in Genome Data Viewer
Location:
1q24.2
Exon count:
25
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (169921326..170085203, complement)
105.20201022 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 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.
GeneReviews: Not available

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

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
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 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
 
involved_in cilium organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in intraciliary transport involved in cilium assembly TAS
Traceable Author Statement
more info
 
involved_in microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in microtubule-based movement TAS
Traceable Author Statement
more info
 
involved_in microtubule-based process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell population 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 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum TAS
Traceable Author Statement
more info
 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
 
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)

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_012883.3 RefSeqGene

    Range
    5044..158410
    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
    Q92845
    Related
    ENSP00000354560.2, ENST00000361580.7
    Conserved Domains (1) summary
    pfam05804
    Location:13720
    KAP; Kinesin-associated protein (KAP)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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)
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