KIFAP3 (kinesin associated protein 3)

Gene

• Entrez ID: 22920
• Gene name: Kinesin associated protein 3
• Gene symbol: KIFAP3
• Synonyms (NCBI Gene): FLA3, KAP-1, KAP-3, KAP3, SMAP, Smg-GDS, dJ190I16.1
• 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

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
MIRT2558200	hsa-miR-586	CLIP-seq
MIRT2683487	hsa-miR-1273d	CLIP-seq
MIRT2558199	hsa-miR-4423-3p	CLIP-seq
MIRT2558200	hsa-miR-586	CLIP-seq

Gene ontology (GO)

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
GO:0005783	Component	Endoplasmic reticulum	TAS	8900189
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IDA	16298999
GO:0005829	Component	Cytosol	TAS
GO:0005871	Component	Kinesin complex	IEA
GO:0005876	Component	Spindle microtubule	IDA	16298999
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007017	Process	Microtubule-based process	IEA
GO:0007017	Process	Microtubule-based process	ISS
GO:0007018	Process	Microtubule-based movement	IBA
GO:0007165	Process	Signal transduction	TAS	8900189
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007406	Process	Negative regulation of neuroblast proliferation	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0010659	Process	Cardiac muscle cell apoptotic process	IEA
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA	16298999
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016939	Component	Kinesin II complex	IBA
GO:0016939	Component	Kinesin II complex	IDA	16298999
GO:0016939	Component	Kinesin II complex	IEA
GO:0016939	Component	Kinesin II complex	ISS
GO:0019894	Function	Kinesin binding	IEA
GO:0019894	Function	Kinesin binding	IPI	16298999
GO:0019903	Function	Protein phosphatase binding	IPI	24338362
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0032839	Component	Dendrite cytoplasm	IEA
GO:0035869	Component	Ciliary transition zone	IBA
GO:0036064	Component	Ciliary basal body	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0044782	Process	Cilium organization	IBA
GO:0046587	Process	Positive regulation of calcium-dependent cell-cell adhesion	IEA
GO:0065003	Process	Protein-containing complex assembly	TAS	8900189
GO:0070242	Process	Thymocyte apoptotic process	IEA
GO:0070244	Process	Negative regulation of thymocyte apoptotic process	IEA
GO:0072383	Process	Plus-end-directed vesicle transport along microtubule	TAS	16298999
GO:0097542	Component	Ciliary tip	TAS
GO:0098794	Component	Postsynapse	IEA
GO:0098971	Process	Anterograde dendritic transport of neurotransmitter receptor complex	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0120170	Function	Intraciliary transport particle B binding	IEA
GO:1990075	Component	Periciliary membrane compartment	IEA

Other IDs

• MIM: 601836
• HGNC: 17060
• e!Ensembl: ENSG00000075945

Protein

• UniProt ID: 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:

  MQGEDARYLKRKVKGGNIDVHPSEKALIVHYEVEATILGEMGDPMLGERKECQKIIRLKS
  LNANTDITSLARKVVEECKLIHPSKLNEVEQLLYYLQNRRDSLSGKEKKEKSSKPKDPPP
  FEGMEIDEVANINDMDEYIELLYEDIPDKVRGSALILQLARNPDNLEELLLNETALGALA
  RVLREDWKQSVELATNIIYIFFCFSSFSQFHGLITHYKIGALCMNIIDHELKRHELWQEE
  LSKKKKAVDEDPENQTLRKDYEKTFKKYQGLVVKQEQLLRVALYLLLNLAEDTRTELKMR
  NKNIVHMLVKALDRDNFELLILVVSFLKKLSIFMENKNDMVEMDIVEKLVKMIPCEHEDL
  LNITLRLLLNLSFDTGLRNKMVQVGLLPKLTALLGNDNYKQIAMCVLYHISMDDRFKSMF
  AYTDCIPQLMKMLFECSDERIDLELISFCINLAANKRNVQLICEGNGLKMLMKRALKFKD
  PLLMKMIRNISQHDGPTKNLFIDYVGDLAAQISNDEEEEFVIECLGTLANLTIPDLDWEL
  VLKEYKLVPYLKDKLKPGAAEDDLVLEVVIMIGTVSMDDSCAALLAKSGIIPALIELLNA
  QQEDDEFVCQIIYVFYQMVFHQATRDVIIKETQAPAYLIDLMHDKNNEIRKVCDNTLDII
  AEYDEEWAKKIQSEKFRWHNSQWLEMVESRQMDESEQYLYGDDRIEPYIHEGDILERPDL
  FYNSDGLIASEGAISPDFFNDYHLQNGDVVGQHSFPGSLGMDGFGQPVGILGRPATAYGF
  RPDEPYYYGYGS

• Sequence length: 792

Pathways

KEGG:

Motor proteins

Reactome:

MHC class II antigen presentation
Intraflagellar transport
COPI-dependent Golgi-to-ER retrograde traffic
Kinesins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTERIOR UVEITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIFAP3-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GWASCAT_DG	19451621		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GWASDB_DG	19451621		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	19451621	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	20566859, 20942785, 21659726, 24838185, 28140676		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	20566859, 24838185	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	19088126		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	19451621, 21659726, 22795786		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	31822503		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	34674729	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25230976	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	22430258		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	25296917		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	25296917	Associate	★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	19451621	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24861921		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28504652		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28504652		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24861921		★☆☆☆☆ Found in Text Mining only
Uveitis Anterior	Anterior uveitis	Pubtator	32492107	Associate	★☆☆☆☆ Found in Text Mining only