Human Gene KIAA0513 (uc002fiu.3) Description and Page Index
  Description: Homo sapiens KIAA0513 (KIAA0513), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr16:85,061,410-85,127,828 Size: 66,419 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr16:85,100,678-85,121,931 Size: 21,254 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:85,061,410-85,127,828)mRNA (may differ from genome)Protein (411 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: K0513_HUMAN
DESCRIPTION: RecName: Full=Uncharacterized protein KIAA0513;
SUBCELLULAR LOCATION: Cytoplasm (Probable).
TISSUE SPECIFICITY: Widely expressed, highest levels in cerebellum, brain cortex, hippocampus, pons, putamen and amygdala. Highly expressed in neurons, but also present in glial cells. Slightly higher expression in the dorsolateral prefrontal cortex of schizophrenic patients compared to control individuals.
SEQUENCE CAUTION: Sequence=BAA25439.2; Type=Erroneous initiation;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KIAA0513
CDC HuGE Published Literature: KIAA0513

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 84.80 RPKM in Brain - Cerebellum
Total median expression: 609.24 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 -105.70220-0.480 Picture PostScript Text
3' UTR -2455.255897-0.416 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
IPR022096 - SBF2

ModBase Predicted Comparative 3D Structure on O60268
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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 BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK299892 - Homo sapiens cDNA FLJ57340 complete cds.
BC030280 - Homo sapiens KIAA0513, mRNA (cDNA clone MGC:39937 IMAGE:5211581), complete cds.
AB011085 - Homo sapiens KIAA0513 mRNA for KIAA0513 protein.
JD147019 - Sequence 128043 from Patent EP1572962.
JD142907 - Sequence 123931 from Patent EP1572962.
JD374134 - Sequence 355158 from Patent EP1572962.
JD225195 - Sequence 206219 from Patent EP1572962.
JD166023 - Sequence 147047 from Patent EP1572962.
JD341940 - Sequence 322964 from Patent EP1572962.
JD253585 - Sequence 234609 from Patent EP1572962.
JD105109 - Sequence 86133 from Patent EP1572962.
JD149644 - Sequence 130668 from Patent EP1572962.
JD513312 - Sequence 494336 from Patent EP1572962.
KJ904631 - Synthetic construct Homo sapiens clone ccsbBroadEn_14025 KIAA0513-like gene, encodes complete protein.
AB383895 - Synthetic construct DNA, clone: pF1KSDA0513, Homo sapiens KIAA0513 gene for KIAA0513 protein, complete cds, without stop codon, in Flexi system.
CU688878 - Synthetic construct Homo sapiens gateway clone IMAGE:100018093 5' read KIAA0513 mRNA.
JD053225 - Sequence 34249 from Patent EP1572962.
JD176636 - Sequence 157660 from Patent EP1572962.
JD184943 - Sequence 165967 from Patent EP1572962.
DQ571240 - Homo sapiens piRNA piR-31352, complete sequence.
JD336503 - Sequence 317527 from Patent EP1572962.
JD454887 - Sequence 435911 from Patent EP1572962.
JD087607 - Sequence 68631 from Patent EP1572962.
JD189696 - Sequence 170720 from Patent EP1572962.
JD398010 - Sequence 379034 from Patent EP1572962.
JD126855 - Sequence 107879 from Patent EP1572962.
JD219420 - Sequence 200444 from Patent EP1572962.
JD088088 - Sequence 69112 from Patent EP1572962.
JD466154 - Sequence 447178 from Patent EP1572962.
JD535749 - Sequence 516773 from Patent EP1572962.
JD106746 - Sequence 87770 from Patent EP1572962.
JD535078 - Sequence 516102 from Patent EP1572962.
JD216069 - Sequence 197093 from Patent EP1572962.
JD369089 - Sequence 350113 from Patent EP1572962.
JD139184 - Sequence 120208 from Patent EP1572962.
JD401205 - Sequence 382229 from Patent EP1572962.
JD186220 - Sequence 167244 from Patent EP1572962.
JD399194 - Sequence 380218 from Patent EP1572962.
JD038031 - Sequence 19055 from Patent EP1572962.
JD145550 - Sequence 126574 from Patent EP1572962.
JD099046 - Sequence 80070 from Patent EP1572962.
JD263535 - Sequence 244559 from Patent EP1572962.
JD481978 - Sequence 463002 from Patent EP1572962.
JD376132 - Sequence 357156 from Patent EP1572962.
JD480042 - Sequence 461066 from Patent EP1572962.
JD229643 - Sequence 210667 from Patent EP1572962.
JD482802 - Sequence 463826 from Patent EP1572962.
JD278073 - Sequence 259097 from Patent EP1572962.
JD323708 - Sequence 304732 from Patent EP1572962.
JD475949 - Sequence 456973 from Patent EP1572962.
JD427556 - Sequence 408580 from Patent EP1572962.
JD231466 - Sequence 212490 from Patent EP1572962.
JD111909 - Sequence 92933 from Patent EP1572962.
JD210691 - Sequence 191715 from Patent EP1572962.
JD439513 - Sequence 420537 from Patent EP1572962.
JD476151 - Sequence 457175 from Patent EP1572962.
JD486072 - Sequence 467096 from Patent EP1572962.
JD479141 - Sequence 460165 from Patent EP1572962.
JD164174 - Sequence 145198 from Patent EP1572962.
JD408700 - Sequence 389724 from Patent EP1572962.
JD213557 - Sequence 194581 from Patent EP1572962.
JD174500 - Sequence 155524 from Patent EP1572962.
JD112196 - Sequence 93220 from Patent EP1572962.
JD200170 - Sequence 181194 from Patent EP1572962.
JD484199 - Sequence 465223 from Patent EP1572962.
JD393990 - Sequence 375014 from Patent EP1572962.
JD099564 - Sequence 80588 from Patent EP1572962.
JD108572 - Sequence 89596 from Patent EP1572962.
JD399088 - Sequence 380112 from Patent EP1572962.
JD075339 - Sequence 56363 from Patent EP1572962.
JD140888 - Sequence 121912 from Patent EP1572962.
JD105230 - Sequence 86254 from Patent EP1572962.
JD448565 - Sequence 429589 from Patent EP1572962.
JD114707 - Sequence 95731 from Patent EP1572962.
JD163382 - Sequence 144406 from Patent EP1572962.
JD109328 - Sequence 90352 from Patent EP1572962.
JD194325 - Sequence 175349 from Patent EP1572962.
JD467724 - Sequence 448748 from Patent EP1572962.
JD402018 - Sequence 383042 from Patent EP1572962.
JD177143 - Sequence 158167 from Patent EP1572962.
JD088261 - Sequence 69285 from Patent EP1572962.
JD064762 - Sequence 45786 from Patent EP1572962.
JD078665 - Sequence 59689 from Patent EP1572962.
JD502496 - Sequence 483520 from Patent EP1572962.
JD455146 - Sequence 436170 from Patent EP1572962.
JD379911 - Sequence 360935 from Patent EP1572962.
JD490074 - Sequence 471098 from Patent EP1572962.
JD501990 - Sequence 483014 from Patent EP1572962.
JD477144 - Sequence 458168 from Patent EP1572962.
JD421354 - Sequence 402378 from Patent EP1572962.
JD444660 - Sequence 425684 from Patent EP1572962.
JD289235 - Sequence 270259 from Patent EP1572962.
JD510104 - Sequence 491128 from Patent EP1572962.
JD157929 - Sequence 138953 from Patent EP1572962.
JD038179 - Sequence 19203 from Patent EP1572962.
JD297164 - Sequence 278188 from Patent EP1572962.
JD555987 - Sequence 537011 from Patent EP1572962.
JD310054 - Sequence 291078 from Patent EP1572962.
JD070513 - Sequence 51537 from Patent EP1572962.
JD398731 - Sequence 379755 from Patent EP1572962.
JD150813 - Sequence 131837 from Patent EP1572962.
JD080270 - Sequence 61294 from Patent EP1572962.
JD072153 - Sequence 53177 from Patent EP1572962.
JD545500 - Sequence 526524 from Patent EP1572962.
JD242853 - Sequence 223877 from Patent EP1572962.
JD064552 - Sequence 45576 from Patent EP1572962.
JD333271 - Sequence 314295 from Patent EP1572962.
JD119543 - Sequence 100567 from Patent EP1572962.
JD084660 - Sequence 65684 from Patent EP1572962.
JD168848 - Sequence 149872 from Patent EP1572962.
AF055005 - Homo sapiens clone 24440 mRNA sequence.
JD133226 - Sequence 114250 from Patent EP1572962.
JD290626 - Sequence 271650 from Patent EP1572962.
JD524523 - Sequence 505547 from Patent EP1572962.
U79288 - Human clone 23682 mRNA sequence.
DQ574312 - Homo sapiens piRNA piR-42424, complete sequence.
JD256408 - Sequence 237432 from Patent EP1572962.
JD190433 - Sequence 171457 from Patent EP1572962.
JD318257 - Sequence 299281 from Patent EP1572962.
JD189055 - Sequence 170079 from Patent EP1572962.
JD073560 - Sequence 54584 from Patent EP1572962.
JD234798 - Sequence 215822 from Patent EP1572962.
JD539258 - Sequence 520282 from Patent EP1572962.
JD210814 - Sequence 191838 from Patent EP1572962.
JD342993 - Sequence 324017 from Patent EP1572962.
JD220723 - Sequence 201747 from Patent EP1572962.
JD223590 - Sequence 204614 from Patent EP1572962.
JD232679 - Sequence 213703 from Patent EP1572962.
JD228701 - Sequence 209725 from Patent EP1572962.
JD081197 - Sequence 62221 from Patent EP1572962.
JD346325 - Sequence 327349 from Patent EP1572962.
JD256298 - Sequence 237322 from Patent EP1572962.
JD128546 - Sequence 109570 from Patent EP1572962.
JD372261 - Sequence 353285 from Patent EP1572962.
JD494481 - Sequence 475505 from Patent EP1572962.
JD405925 - Sequence 386949 from Patent EP1572962.
JD273827 - Sequence 254851 from Patent EP1572962.
JD294870 - Sequence 275894 from Patent EP1572962.
JD037390 - Sequence 18414 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D3DUM2, K0513_HUMAN, NM_014732, NP_055547, O60268, Q8N6G0
UCSC ID: uc002fiu.3
RefSeq Accession: NM_014732
Protein: O60268 (aka K0513_HUMAN or K513_HUMAN)
CCDS: CCDS32499.1, CCDS67091.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_014732.2
exon count: 13CDS single in 3' UTR: no RNA size: 7361
ORF size: 1236CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2663.00frame shift in genome: no % Coverage: 99.89
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
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.