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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KIFAP3 Gene

protein-coding GIFtS: 62
GCID: GC01M169890

kinesin-associated protein 3

Explore 14 diseases affiliated with
KIFAP3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Kinesin-Associated Protein 3¹ ²		KAP-3² ³
SMAP¹ ² ³ ⁵		Smg-GDS²
KAP3¹ ² ³		DJ190I16.1¹
FLA3¹ ²		Small G Protein GDP Dissociation Stimulator²
KAP-1¹ ²		KIF3AP³
Smg GDS-Associated Protein² ³

External Ids:	HGNC: 17060¹	Entrez Gene: 22920²	Ensembl: ENSG00000075945⁷	OMIM: 601836⁵	UniProtKB: Q92845³

Export aliases for KIFAP3 gene to outside databases

Previous GC identifers: GC01M167519 GC01M165541 GC01M166586 GC01M167077 GC01M166622 GC01M168157 GC01M141112

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KIFAP3:

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)

UniProtKB/Swiss-Prot: KIFA3_HUMAN, Q92845

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 similarity)

Gene Wiki entry for KIFAP3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KIFAP3 gene promoter:
GR E2F-3a E2F-4 E2F-5 E2F-2 E2F-1 E2F Ik-2 c-Myb GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KIFAP3 promoter sequence

Search SABiosciences Chromatin IP Primers for KIFAP3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIFAP3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q24.2 Ensembl cytogenetic band: 1q24.2 HGNC cytogenetic band: 1q24.2

KIFAP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIFAP3 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M169890: view genomic region (about GC identifiers)

Start:	169,890,467 bp from pter	End:	170,054,349 bp from pter
Size:	163,883 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: KIFA3_HUMAN, Q92845 (See protein sequence)

Recommended Name: Kinesin-associated protein 3

Size: 792 amino acids; 91205 Da

Subunit: Heterotrimer of KIFAP3, KIF3A and KIF3B. Interacts with RAP1GDS1/SMG GDS. Interacts with SMC3 subunit of the

cohesin complex

Secondary accessions: B1AKU5 B2RDL1 Q8NHU7 Q9H416

Alternative splicing: 2 isoforms: Q92845-1 Q92845-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIFAP3: NX_Q92845

Post-translational modifications:

Phosphorylated on tyrosine residues by SRC in vitro; this reduces the binding affinity of the protein for RAP1GDS1¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q92845

KIFAP3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001191443.1 NP_001191445.1 NP_001191446.1 NP_055785.2

ENSEMBL proteins:

ENSP00000354560 ENSP00000356739 ENSP00000356741 ENSP00000444622 ENSP00000442712

Reactome Protein details: Q92845
Human Recombinant Protein Products:

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	Uscn Proteins for KIFAP3

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000794	condensed nuclear chromosome	IDA	16298999
GO:0005783	endoplasmic reticulum	TAS	8900189
GO:0005813	centrosome	IDA	16298999
GO:0005829	cytosol	TAS	--
GO:0005871	kinesin complex	--	--

KIFAP3 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for KIFAP3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

KIFAP3 for domains About GeneDecksing

4 InterPro domains/families:

IPR011989 ARM-like

IPR000225 Armadillo

IPR008658 KAP3

IPR016024 ARM-type_fold

Graphical View of Domain Structure for InterPro Entry Q92845

ProtoNet protein and cluster: Q92845

2 Blocks protein families:

IPB000225 Armadillo repeat

IPB008658 Kinesin-associated

UniProtKB/Swiss-Prot: KIFA3_HUMAN, Q92845

Similarity: Contains 5 ARM repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: KIFA3_HUMAN, Q92845

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 similarity)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KIFAP3
		1 QIAGEN miScript miRNA Assays for microRNA that regulate KIFAP3:
		hsa-miR-586
		SwitchGear 3'UTR luciferase reporter plasmid: KIFAP3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIFAP3

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	9506951
GO:0019894	kinesin binding	IPI	16298999

KIFAP3 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for KIFAP3:

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-outs for KIFAP3: Kifap3^tm1Ytk Kifap3^tm1.1Noh
13 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Kifap3):

behavior/neurological	cardiovascular system	cellular	embryogenesis	hematopoietic system
homeostasis/metabolism	immune system	integument	liver/biliary system	mortality/aging
muscle	nervous system	respiratory system

KIFAP3 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

G-protein signaling Rap1A regulation pathway

	G-protein signaling Rap1A regulation pathway	1.00			G-protein signaling_Rap1B regulation pathway	0.21
	G-protein signaling_Rap1A regulation pathway	0.88			G-protein signaling Rap1B regulation pathway	0.21

G-protein signaling Regulation of RAC1 activity

G-protein signaling Regulation of RAC1 activity

1.00

G-protein signaling_Regulation of RAC1 activity

0.88

G-protein signaling_RhoA regulation pathway

G-protein signaling_RhoA regulation pathway

1.00

G-protein signaling RhoA regulation pathway

1.00

Immune System

Immune System

1.00

Adaptive Immune System

0.59

Kinesins

Kinesins

1.00

Kinesins move along microtubules consuming ATP

0.95

Pathway sources
See GeneCards unified pathways
Show all pathways

5 EMD Millipore Pathways for KIFAP3

	G-protein signaling K-RAS regulation pathway
	G-protein signaling Rap1B regulation pathway
	G-protein signaling Rap1A regulation pathway
	G-protein signaling RhoA regulation pathway
	G-protein signaling Regulation of RAC1 activity

5 GeneGo (Thomson Reuters) Pathways for KIFAP3

	G-protein signaling Regulation of RAC1 activity
	G-protein signaling Rap1A regulation pathway
	G-protein signaling Rap1B regulation pathway
	G-protein signaling K-RAS regulation pathway
	G-protein signaling RhoA regulation pathway

5/10 Reactome Pathways for KIFAP3 (see all 10)

	Hemostasis
	Membrane Trafficking
	Translocation of GLUT4 to the Plasma Membrane
	Adaptive Immune System
	Transport of antigen loaded MHC II molecules to surface

KIFAP3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KIFAP3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/91 Interacting proteins for KIFAP3 (Q92845^{2, 3} ENSP00000354560⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 91)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MEST	Q5EB52²^,³, ENSP00000223215⁴	MINT-8263093 I2D: score=2 STRING: ENSP00000223215
NUDT21	O43809²^,³	MINT-8264413 I2D: score=2
NIPSNAP3A	Q9UFN0²^,³, ENSP00000363899⁴	MINT-8263808 I2D: score=2 STRING: ENSP00000363899
APC	P25054³, ENSP00000257430⁴	I2D: score=4 STRING: ENSP00000257430
SMC3	Q9UQE7³, ENSP00000354720⁴	I2D: score=3 STRING: ENSP00000354720

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006461	protein complex assembly	TAS	8900189
GO:0007017	microtubule-based process	ISS	--
GO:0007018	microtubule-based movement	TAS	--
GO:0007165	signal transduction	TAS	8900189
GO:0007596	blood coagulation	TAS	--

KIFAP3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

KIFAP3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KIFAP3
4 Novoseek chemical compound relationships for KIFAP3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gdp	82.3	24	1734890 (2), 1501882 (2), 1540187 (1), 9506951 (1) (see all 10)
gtp	71.8	21	1734890 (2), 1501882 (2), 1540187 (1), 7852400 (1) (see all 9)
nadph	24	5	1464587 (2), 1316893 (2)
tyrosine	0	11	8900189 (3), 9506951 (1)

Search CenterWatch for drugs/clinical trials and news about KIFAP3 / KIFA3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KIFAP3 gene (4 alternative transcripts):

NM_001204514.1 NM_001204516.1 NM_001204517.1 NM_014970.3

Unigene Cluster for KIFAP3:

Kinesin-associated protein 3

Hs.433442 [show with all ESTs]

Unigene Representative Sequence: NM_001204517

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000361580(uc001ggv.3 uc001ggw.2) ENST00000367765(uc021pep.1)

ENST00000367767 ENST00000474292 ENST00000490550 ENST00000538366(uc010ply.2)

ENST00000540905(uc010plx.2)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KIFAP3
		1 QIAGEN miScript miRNA Assays for microRNA that regulate KIFAP3:
		hsa-miR-586
		SwitchGear 3'UTR luciferase reporter plasmid: KIFAP3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional cDNA sequence:

AK026471.1 AK122897.1 AK125934.1 AK297368.1 AK301912.1 AK303052.1 AK315586.1 BC028679.2

BC048012.1 U59919.1

13 DOTS entries:

DT.416782 DT.100820883 DT.95356658 DT.97844172 DT.100723320 DT.91812322 DT.97774192 DT.102820896

DT.95092946 DT.92432741 DT.92432749 DT.121453806 DT.121453813

24/194 AceView cDNA sequences (see all 194):

AU117042 BM771954 T33006 CD514604 AI085654 Z38322 AL534322 AI671532

BM509552 BM674276 AK122897 BX279576 BX952059 AA326255 AL589427 CK822528

AA309513 NM_014970 BP344633 AL044699 AU100070 BM701268 BM799533 AU132295

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for KIFAP3 About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9a	·	9b
SP1:																					-
SP2:
SP3:							-
SP4:

ECgene alternative splicing isoforms for KIFAP3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KIFAP3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGCCTCAAAA

About this image

KIFAP3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Eye

Retina

Eye

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

See KIFAP3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIFAP3

SOURCE GeneReport for Unigene cluster: Hs.433442

SABiosciences Custom PCR Arrays for KIFAP3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KIFAP3 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIFAP3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIFAP3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for KIFAP3 gene from 7/25 species (see all 25) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Kifap3^{1 , 5}	kinesin-associated protein 3^{1, 5}	89.23(n)¹ 98.15(a)¹		1 (71.08 cM)⁵ 16579¹ NM_010629.2¹ NP_034759.1¹ 163779583⁵
chicken (Gallus gallus)	Aves	KIFAP3¹	kinesin-associated protein 3	82.58(n) 94.34(a)		424395 XM_422239.3 XP_422239.3
lizard (Anolis carolinensis)	Reptilia	KIFAP3⁶	--	92(a)	1 ↔ 1	GL343300.1(1430663-1484029)
African clawed frog (Xenopus laevis)	Amphibia	Xl.3217²	Xenopus laevis transcribed sequence with moderate similarity more	81.17(n)		AW645628.1
zebrafish (Danio rerio)	Actinopterygii	AI658320.1²	--	76.35(n)		AI658320.1
fruit fly (Drosophila melanogaster)	Insecta	Kap³ Kap3¹	microtubule-based movement kinesin motor³ Kinesin associated protein 3¹	46(a)³ 52.03(n)¹ 45.19(a)¹		10B3³ 32071¹ NM_167278.2¹ NP_727512.3¹
worm (Caenorhabditis elegans)	Secernentea	kap-1¹	Protein KAP-1	51(n) 39.57(a)		176041 NM_001026075.1 NP_001021246.1

ENSEMBL Gene Tree for KIFAP3 (if available)
TreeFam Gene Tree for KIFAP3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs549002^1,2	C,F,A,H,	--	141112545(-)	`AAGTCG/ACATTA`	4	--	ds500¹		11	MN EA NS NA WA	740
rs114938904^1,2	C,F,	--	141113191(+)	`TAACAA/GCATAT`	4	--	ut3¹		1	WA	118
rs45601233^1,2		--	141113516(+)	`CCAAGA/TTTCTC`	4	--	int¹		2	NA WA	120
rs74122429^1,2	C,	--	141114171(+)	`TGATTG/ATTATT`	4	--	int¹		1	WA	2
rs74122430^1,2	C,	--	141114178(+)	`TATTTT/AAAAAA`	4	--	int¹		1	WA	2
rs80175861^1,2	F,	--	141114821(+)	`TTCTAT/CATAAA`	4	--	int¹		1	WA	118
rs16862753^1,2	C,F,H,	--	141115473(+)	`AGCTAC/TAACGC`	4	--	int¹		12	NA NS EA WA	1624
rs57813710^1,2	C,	--	141116027(+)	`AAATAT/CCGTTT`	4	--	int¹		2	WA	120
rs77605974^1,2	F,	--	141116508(+)	`CAACGT/CTGCAG`	4	--	int¹		1	WA	118
rs74767577^1,2	F,	--	141116555(+)	`TTCAAT/CAGTGT`	4	--	int¹		2	WA NA	238

HapMap Linkage Disequilibrium report for KIFAP3 (169890467 - 170054349 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for KIFAP3
2 CNVs: 97550 84649
Human Gene Mutation Database (HGMD): KIFAP3

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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KIFAP3 for disorders           About GeneDecksing

OMIM gene information: 601836    OMIM disorders: --

14 diseases for KIFAP3:    About MalaCards

adenomatous polyposis coli amyotrophic lateral sclerosis lateral sclerosis kartagener syndrome

retinitis pigmentosa polyposis t-cell leukemia retinitis

prostate cancer ataxia leukemia prostatitis

schizophrenia neuronitis

1 disease from the University of Copenhagen DISEASES database for KIFAP3:

Amyotrophic lateral sclerosis

Human Genome Epidemiology (HuGE) Navigator: KIFAP3 (4 documents)

Export disorders for KIFAP3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for KIFAP3 gene, integrated from 9 sources (see all 44):
(articles sorted by number of sources associating them with KIFAP3)

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world of online information

SMAP, an Smg GDS-associating protein having arm repeats and phosphorylated by src tyrosine kinase. (PubMed id 8900189)^{1, 2, 3, 9} Shimizu K....Takai Y. (1996)
Complex formation of SMAP/KAP3, a KIF3A/B ATPase motor-associated protein, with a human chromosome-associated polypeptide. (PubMed id 9506951)^{1, 2, 9} Shimizu K.... Takai Y. (1998)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. (PubMed id 19451621)^{1, 9} Landers J.E....Brown R.H. (2009)
Mutant SOD1 impairs axonal transport of choline acetyltransferase and acetylcholine release by sequestering KAP3. (PubMed id 19088126)^{1, 9} Tateno M....Araki T. (2009)
Role of the kinesin-2 family protein, KIF3, during mitosis. (PubMed id 16298999)^{1, 9} Haraguchi K....Akiyama T. (2006)
A role for kinesin-2 in COPI-dependent recycling between the ER and the Golgi complex. (PubMed id 17113389)^{1, 9} Stauber T....Vernos I. (2006)
Kinesin-2 is a motor for late endosomes and lysosomes. (PubMed id 16262723)^{1, 9} Brown C.L....Schroer T.A. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 22920	HGNC: 17060	AceView: KIFAP3	Ensembl:ENSG00000075945	euGenes: HUgn22920
ECgene: KIFAP3	H-InvDB: KIFAP3

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for KIFAP3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KIFAP3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for KIFAP3 gene:
Search GeneIP for patents involving KIFAP3

GeneCards and IP:
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kinesin-associated protein 3

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kinesin-associated protein 3

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