Human Gene KIFAP3 (uc001ggv.3) Description and Page Index
  Description: Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.
RefSeq Summary (NM_014970): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:169,890,470-170,043,879 Size: 153,410 Total Exon Count: 20 Strand: -
Coding Region
   Position: hg19 chr1:169,890,817-170,043,608 Size: 152,792 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:169,890,470-170,043,879)mRNA (may differ from genome)Protein (792 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: KIFA3_HUMAN
DESCRIPTION: RecName: Full=Kinesin-associated protein 3; Short=KAP-3; Short=KAP3; AltName: Full=Smg GDS-associated 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 similarity).
SUBUNIT: Heterotrimer of KIFAP3, KIF3A and KIF3B. Interacts with RAP1GDS1/SMG GDS. Interacts with SMC3 subunit of the cohesin complex.
PTM: Phosphorylated on tyrosine residues by SRC in vitro; this reduces the binding affinity of the protein for RAP1GDS1.
SIMILARITY: Contains 5 ARM repeats.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KIFAP3
CDC HuGE Published Literature: KIFAP3
Positive Disease Associations: Amyotrophic lateral sclerosis
Related Studies:
  1. Amyotrophic lateral sclerosis
    Landers ,et al. 2009, Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis, Proceedings of the National Academy of Sciences of the United States of America 2009 106- 22 : 9004-9. [PubMed 19451621]
  2. Amyotrophic Lateral Sclerosis
    John E Landers et al. Proceedings of the National Academy of Sciences of the United States of America 2009, Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis., Proceedings of the National Academy of Sciences of the United States of America. [PubMed 19451621]

-  MalaCards Disease Associations
  MalaCards Gene Search: KIFAP3
Diseases sorted by gene-association score: progressive bulbar palsy (12), amyotrophic lateral sclerosis 1 (1), retinitis pigmentosa (0)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.48 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 513.44 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -113.60271-0.419 Picture PostScript Text
3' UTR -71.30347-0.205 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR000225 - Armadillo
IPR008658 - KAP3

Pfam Domains:
PF05804 - Kinesin-associated protein (KAP)

SCOP Domains:
48371 - ARM repeat

ModBase Predicted Comparative 3D Structure on Q92845
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details   Gene Details 
Gene Sorter   Gene Sorter 
  Ensembl WormBase 
  Protein Sequence Protein Sequence 
  Alignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019894 kinesin binding

Biological Process:
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER
GO:0007017 microtubule-based process
GO:0007018 microtubule-based movement
GO:0007165 signal transduction
GO:0008104 protein localization
GO:0008285 negative regulation of cell proliferation
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0035735 intraciliary transport involved in cilium assembly
GO:0043066 negative regulation of apoptotic process
GO:0046587 positive regulation of calcium-dependent cell-cell adhesion
GO:0065003 macromolecular complex assembly
GO:0072383 plus-end-directed vesicle transport along microtubule

Cellular Component:
GO:0000794 condensed nuclear chromosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005871 kinesin complex
GO:0005929 cilium
GO:0005930 axoneme
GO:0015630 microtubule cytoskeleton
GO:0016939 kinesin II complex
GO:0030990 intraciliary transport particle
GO:0032391 photoreceptor connecting cilium
GO:0036064 ciliary basal body
GO:0097542 ciliary tip
GO:1990075 periciliary membrane compartment
GO:0005876 spindle microtubule


-  Descriptions from all associated GenBank mRNAs
  AK026471 - Homo sapiens cDNA: FLJ22818 fis, clone KAIA3839, highly similar to HSU59919 Human Smg GDS-associated protein SMAP mRNA.
BC028679 - Homo sapiens kinesin-associated protein 3, mRNA (cDNA clone MGC:26126 IMAGE:4829354), complete cds.
AK297368 - Homo sapiens cDNA FLJ54024 complete cds, highly similar to Kinesin-associated protein 3.
BC048012 - Homo sapiens kinesin-associated protein 3, mRNA (cDNA clone IMAGE:5301903).
AK122897 - Homo sapiens cDNA FLJ16560 fis, clone SYNOV4003681, highly similar to Homo sapiens kinesin-associated protein 3 (KIFAP3).
AK303052 - Homo sapiens cDNA FLJ59800 complete cds, highly similar to Kinesin-associated protein 3.
U59919 - Human Smg GDS-associated protein SMAP mRNA, complete cds.
AK315586 - Homo sapiens cDNA, FLJ96664, Homo sapiens kinesin-associated protein 3 (KIFAP3), mRNA.
KJ898424 - Synthetic construct Homo sapiens clone ccsbBroadEn_07818 KIFAP3 gene, encodes complete protein.
DQ890952 - Synthetic construct clone IMAGE:100003582; FLH167905.01X; RZPDo839H0190D kinesin-associated protein 3 (KIFAP3) gene, encodes complete protein.
DQ894114 - Synthetic construct Homo sapiens clone IMAGE:100008574; FLH167901.01L; RZPDo839H0189D kinesin-associated protein 3 (KIFAP3) gene, encodes complete protein.
AK125934 - Homo sapiens cDNA FLJ43946 fis, clone TESTI4014694.
AK301912 - Homo sapiens cDNA FLJ53234 complete cds, highly similar to Kinesin-associated protein 3.
JD530934 - Sequence 511958 from Patent EP1572962.
JD053315 - Sequence 34339 from Patent EP1572962.
JD101507 - Sequence 82531 from Patent EP1572962.
JD392301 - Sequence 373325 from Patent EP1572962.
CU688542 - Synthetic construct Homo sapiens gateway clone IMAGE:100020090 5' read KIFAP3 mRNA.
JD458777 - Sequence 439801 from Patent EP1572962.
JD461630 - Sequence 442654 from Patent EP1572962.
JD072691 - Sequence 53715 from Patent EP1572962.
JD310997 - Sequence 292021 from Patent EP1572962.
JD233859 - Sequence 214883 from Patent EP1572962.
JD494099 - Sequence 475123 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q92845 (Reactome details) participates in the following event(s):

R-HSA-984708 Kinesin-2 is a heterotrimer
R-HSA-2316347 RAB4A:GTP binds KIF3 and activates KIF3
R-HSA-983266 Kinesins bind microtubules
R-HSA-5625424 The retrograde IFT train dissociates
R-HSA-5624952 Assembly of the retrograde IFT train
R-HSA-5625421 The anterograde IFT train dissociates
R-HSA-6811426 Retrograde COPI vesicles bind kinesin and microtubules
R-HSA-6811423 Retrograde vesicle is tethered at the ER by the NRZ complex and t-SNAREs
R-HSA-5624949 Assembly of the anterograde IFT train
R-HSA-983189 Kinesins
R-HSA-1445148 Translocation of GLUT4 to the plasma membrane
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-199991 Membrane Trafficking
R-HSA-109582 Hemostasis
R-HSA-5620924 Intraflagellar transport
R-HSA-2132295 MHC class II antigen presentation
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-5653656 Vesicle-mediated transport
R-HSA-5617833 Cilium Assembly
R-HSA-1280218 Adaptive Immune System
R-HSA-8856688 Golgi-to-ER retrograde transport
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-168256 Immune System
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic

-  Other Names for This Gene
  Alternate Gene Symbols: B1AKU5, B2RDL1, KIF3AP, KIFA3_HUMAN, NM_014970, NP_001191446, Q8NHU7, Q92845, Q9H416, SMAP
UCSC ID: uc001ggv.3
RefSeq Accession: NM_014970
Protein: Q92845 (aka KIFA3_HUMAN or KFP3_HUMAN)
CCDS: CCDS1288.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_014970.3
exon count: 20CDS single in 3' UTR: no RNA size: 3011
ORF size: 2379CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4610.00frame shift in genome: no % Coverage: 99.53
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 1
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.