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Gene id

22920

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

KIFAP3 Gene UCSC Ensembl

Aliases

FLA3, KAP-1, KAP-3, KAP3, SMAP, Smg-GDS, dJ190I16.1

Gene name

kinesin associated protein 3

Alternate names

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

Gene location

1q24.2 (170074740: 169921328) Exons: 24 NC_000001.11

Gene summary(Entrez)

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]

OMIM

601836

Protein Summary

Protein general information

Q92845

Name: Kinesin associated protein 3 (KAP 3) (KAP3) (Smg GDS associated protein)

Length: 792 Mass: 91,205

Sequence

MQGEDARYLKRKVKGGNIDVHPSEKALIVHYEVEATILGEMGDPMLGERKECQKIIRLKSLNANTDITSLARKVV
EECKLIHPSKLNEVEQLLYYLQNRRDSLSGKEKKEKSSKPKDPPPFEGMEIDEVANINDMDEYIELLYEDIPDKV
RGSALILQLARNPDNLEELLLNETALGALARVLREDWKQSVELATNIIYIFFCFSSFSQFHGLITHYKIGALCMN
IIDHELKRHELWQEELSKKKKAVDEDPENQTLRKDYEKTFKKYQGLVVKQEQLLRVALYLLLNLAEDTRTELKMR
NKNIVHMLVKALDRDNFELLILVVSFLKKLSIFMENKNDMVEMDIVEKLVKMIPCEHEDLLNITLRLLLNLSFDT
GLRNKMVQVGLLPKLTALLGNDNYKQIAMCVLYHISMDDRFKSMFAYTDCIPQLMKMLFECSDERIDLELISFCI
NLAANKRNVQLICEGNGLKMLMKRALKFKDPLLMKMIRNISQHDGPTKNLFIDYVGDLAAQISNDEEEEFVIECL
GTLANLTIPDLDWELVLKEYKLVPYLKDKLKPGAAEDDLVLEVVIMIGTVSMDDSCAALLAKSGIIPALIELLNA
QQEDDEFVCQIIYVFYQMVFHQATRDVIIKETQAPAYLIDLMHDKNNEIRKVCDNTLDIIAEYDEEWAKKIQSEK
FRWHNSQWLEMVESRQMDESEQYLYGDDRIEPYIHEGDILERPDLFYNSDGLIASEGAISPDFFNDYHLQNGDVV
GQHSFPGSLGMDGFGQPVGILGRPATAYGFRPDEPYYYGYGS

Structural information

Interpro:	IPR011989 IPR016024 IPR000225 IPR008658
Prosite:	PS50176
MINT:	6942059
STRING:	ENSP00000354560;

Other Databases

GeneCards: KIFAP3; Malacards: KIFAP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000794	condensed nuclear chromos ome	IDA	cellular_component
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005783	endoplasmic reticulum	IEA	cellular_component
GO:0005794	Golgi apparatus	IEA	cellular_component
GO:0005813	centrosome	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005930	axoneme	IEA	cellular_component
GO:0006461	protein complex assembly	TAS	biological_process
GO:0006890	retrograde vesicle-mediat ed transport, Golgi to ER	TAS	biological_process
GO:0007017	microtubule-based process	ISS	biological_process
GO:0007018	microtubule-based movemen t	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0008104	protein localization	IEA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0015630	microtubule cytoskeleton	IDA	cellular_component
GO:0016939	kinesin II complex	ISS	cellular_component
GO:0016939	kinesin II complex	IDA	cellular_component
GO:0019886	antigen processing and pr esentation of exogenous p eptide antigen via MHC cl ass II	TAS	biological_process
GO:0019894	kinesin binding	IPI	molecular_function
GO:0030990	intraciliary transport pa rticle	IEA	cellular_component
GO:0032391	photoreceptor connecting cilium	IEA	cellular_component
GO:0036064	ciliary basal body	IEA	cellular_component
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0046587	positive regulation of ca lcium-dependent cell-cell adhesion	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0072383	plus-end-directed vesicle transport along microtub ule	TAS	biological_process
GO:0097542	ciliary tip	TAS	cellular_component
GO:0097542	ciliary tip	TAS	cellular_component
GO:0097542	ciliary tip	TAS	cellular_component
GO:0097542	ciliary tip	TAS	cellular_component
GO:1990075	periciliary membrane comp artment	IEA	cellular_component
GO:0005876	spindle microtubule	IDA	cellular_component
GO:0000794	condensed nuclear chromos ome	IDA	cellular_component
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005783	endoplasmic reticulum	IEA	cellular_component
GO:0005783	endoplasmic reticulum	TAS	cellular_component
GO:0005794	Golgi apparatus	IEA	cellular_component
GO:0005813	centrosome	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005871	kinesin complex	IEA	cellular_component
GO:0005930	axoneme	IEA	cellular_component
GO:0006461	protein complex assembly	TAS	biological_process
GO:0006890	retrograde vesicle-mediat ed transport, Golgi to ER	TAS	biological_process
GO:0007017	microtubule-based process	IEA	biological_process
GO:0007017	microtubule-based process	ISS	biological_process
GO:0007018	microtubule-based movemen t	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0008104	protein localization	IEA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0015630	microtubule cytoskeleton	IEA	cellular_component
GO:0015630	microtubule cytoskeleton	IDA	cellular_component
GO:0016939	kinesin II complex	IEA	cellular_component
GO:0016939	kinesin II complex	ISS	cellular_component
GO:0016939	kinesin II complex	IDA	cellular_component
GO:0019886	antigen processing and pr esentation of exogenous p eptide antigen via MHC cl ass II	TAS	biological_process
GO:0019894	kinesin binding	IEA	molecular_function
GO:0019894	kinesin binding	IPI	molecular_function
GO:0030990	intraciliary transport pa rticle	IEA	cellular_component
GO:0032391	photoreceptor connecting cilium	IEA	cellular_component
GO:0036064	ciliary basal body	IEA	cellular_component
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0046587	positive regulation of ca lcium-dependent cell-cell adhesion	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0072383	plus-end-directed vesicle transport along microtub ule	TAS	biological_process
GO:0097542	ciliary tip	TAS	cellular_component
GO:0097542	ciliary tip	TAS	cellular_component
GO:0097542	ciliary tip	TAS	cellular_component
GO:0097542	ciliary tip	TAS	cellular_component
GO:1990075	periciliary membrane comp artment	IEA	cellular_component
GO:0005876	spindle microtubule	IDA	cellular_component
GO:0000794	condensed nuclear chromos ome	IDA	cellular_component
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005783	endoplasmic reticulum	TAS	cellular_component
GO:0005813	centrosome	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006461	protein complex assembly	TAS	biological_process
GO:0006890	retrograde vesicle-mediat ed transport, Golgi to ER	TAS	biological_process
GO:0007017	microtubule-based process	ISS	biological_process
GO:0007018	microtubule-based movemen t	TAS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0015630	microtubule cytoskeleton	IDA	cellular_component
GO:0016939	kinesin II complex	ISS	cellular_component
GO:0016939	kinesin II complex	IDA	cellular_component
GO:0019886	antigen processing and pr esentation of exogenous p eptide antigen via MHC cl ass II	TAS	biological_process
GO:0019894	kinesin binding	IPI	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0072383	plus-end-directed vesicle transport along microtub ule	TAS	biological_process
GO:0097542	ciliary tip	TAS	cellular_component
GO:0097542	ciliary tip	TAS	cellular_component
GO:0097542	ciliary tip	TAS	cellular_component
GO:0097542	ciliary tip	TAS	cellular_component
GO:0005876	spindle microtubule	IDA	cellular_component

Diseases

Associated diseases	References
Amyotrophic lateral sclerosis (ALS)	PMID: 19451621
Endometriosis	PMID: 25296917
Osteoporosis	PMID: 19064610
Subfertility	INFBASE25296917
Endometriosis	INFBASE25296917

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25296917	Endometrio sis	rs12700667, WNT4 (rs7521902), rs1055144, GRB14 (rs10195252), PPARG (rs4684854), ITPR2-SSPN ( rs718314), CPEB4 (rs6861681), ADAMTS9 (rs6795735), LYPLAL1 (rs2820446 ), NISCH-STAB1 (rs498778), LY86 (rs1294421), RSPO3 (rs9491696), HOXC13 (rs1443512), TBX15-WA	Europea n	10254 (3194 cas es including 13 64 Stage B case s, 7060 control s)		GRB14 KIFAP3 WNT4 CAB39L	Show abstract