Gene Gene information from NCBI Gene database.
Entrez ID 22920
Gene name Kinesin associated protein 3
Gene symbol KIFAP3
Synonyms (NCBI Gene)
FLA3KAP-1KAP-3KAP3SMAPSmg-GDSdJ190I16.1
Chromosome 1
Chromosome location 1q24.2
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
miRNA miRNA information provided by mirtarbase database.
9
miRTarBase ID miRNA Experiments Reference
MIRT030958 hsa-miR-21-5p Microarray 18591254
MIRT039305 hsa-miR-425-5p CLASH 23622248
MIRT037774 hsa-miR-671-3p CLASH 23622248
MIRT2256755 hsa-miR-576-3p CLIP-seq
MIRT2558199 hsa-miR-4423-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0000794 Component Condensed nuclear chromosome IDA 16298999
GO:0001750 Component Photoreceptor outer segment IEA
GO:0001917 Component Photoreceptor inner segment IEA
GO:0005515 Function Protein binding IPI 9506951, 16298999, 21516116, 24338362, 25416956, 25910212, 26496610, 26871637, 27173435, 28514442, 31515488, 32296183, 33961781, 35271311
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601836 17060 ENSG00000075945
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92845
Protein name Kinesin-associated protein 3 (KAP-3) (KAP3) (Smg GDS-associated protein)
Protein function Involved in tethering the chromosomes to the spindle pole and in chromosome movement. Binds to the tail domain of the KIF3A/KIF3B heterodimer to form a heterotrimeric KIF3 complex and may regulate the membrane binding of this complex (By similar
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05804 KAP 13 720 Family
Sequence
Sequence length 792
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Motor proteins   MHC class II antigen presentation
Intraflagellar transport
COPI-dependent Golgi-to-ER retrograde traffic
Kinesins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
KIFAP3-related disorder Likely benign; Benign rs41302121, rs36022648, rs12075833, rs116755924, rs537407535, rs149027544, rs1019209558 RCV003902124
RCV003916878
RCV003951850
RCV003944448
RCV003932258
RCV003954598
RCV003971544
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Inhibit 19451621
Amyotrophic Lateral Sclerosis Associate 20566859, 24838185
Carcinoma Basal Cell Associate 34674729
Carcinoma Renal Cell Associate 25230976
Carcinoma Signet Ring Cell Inhibit 35322078
Endometriosis Associate 25296917
Liver Neoplasms Associate 19451621
Uveitis Anterior Associate 32492107