Human Gene RALGAPA1 (uc001wtk.1)
  Description: Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.
RefSeq Summary (NM_014990): This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016].
Transcript (Including UTRs)
   Position: hg19 chr14:36,145,435-36,230,212 Size: 84,778 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr14:36,147,088-36,230,134 Size: 83,047 Coding Exon Count: 17 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:36,145,435-36,230,212)mRNA (may differ from genome)Protein (955 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMalacardsMGIOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RALGAPA1
CDC HuGE Published Literature: RALGAPA1

-  MalaCards Disease Associations
  MalaCards Gene Search: RALGAPA1
Diseases sorted by gene-association score: holoprosencephaly 8 (10), ebola hemorrhagic fever (7)

-  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: 6.43 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 171.33 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 -13.4078-0.172 Picture PostScript Text
3' UTR -479.801653-0.290 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
  ModBase Predicted Comparative 3D Structure on Q6GYQ0-3
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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 orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AY596970 - Homo sapiens tuberin-like protein 1 isoform 1 (GARNL1) mRNA, complete cds, alternatively spliced.
AY596971 - Homo sapiens tuberin-like protein 1 isoform 2 (GARNL1) mRNA, complete cds, alternatively spliced.
BC150596 - Homo sapiens GTPase activating Rap/RanGAP domain-like 1, mRNA (cDNA clone MGC:183506 IMAGE:9056966), complete cds.
AB511280 - Homo sapiens GARNL1 mRNA for RalGAP alpha1 catalytic subunit, complete cds.
BC168361 - Synthetic construct Homo sapiens clone IMAGE:100068257, MGC:195874 GTPase activating Rap/RanGAP domain-like 1 (GARNL1) mRNA, encodes complete protein.
AB020691 - Homo sapiens mRNA for KIAA0884 protein, partial cds.
AK022988 - Homo sapiens cDNA FLJ12926 fis, clone NT2RP2004732, weakly similar to NEUROFILAMENT TRIPLET M PROTEIN.
JD221331 - Sequence 202355 from Patent EP1572962.
JD219180 - Sequence 200204 from Patent EP1572962.
JD095390 - Sequence 76414 from Patent EP1572962.
JD250943 - Sequence 231967 from Patent EP1572962.
JD148737 - Sequence 129761 from Patent EP1572962.
JD200133 - Sequence 181157 from Patent EP1572962.
JD272482 - Sequence 253506 from Patent EP1572962.
JD446958 - Sequence 427982 from Patent EP1572962.
JD323097 - Sequence 304121 from Patent EP1572962.
JD307211 - Sequence 288235 from Patent EP1572962.
JD037091 - Sequence 18115 from Patent EP1572962.
JD502461 - Sequence 483485 from Patent EP1572962.
JD428838 - Sequence 409862 from Patent EP1572962.
JD401884 - Sequence 382908 from Patent EP1572962.
JD307210 - Sequence 288234 from Patent EP1572962.
JD435057 - Sequence 416081 from Patent EP1572962.
JD111462 - Sequence 92486 from Patent EP1572962.
JD047679 - Sequence 28703 from Patent EP1572962.
JD238393 - Sequence 219417 from Patent EP1572962.
JD249108 - Sequence 230132 from Patent EP1572962.
JD136431 - Sequence 117455 from Patent EP1572962.
JD051359 - Sequence 32383 from Patent EP1572962.
JD473446 - Sequence 454470 from Patent EP1572962.
JD136428 - Sequence 117452 from Patent EP1572962.
JD496944 - Sequence 477968 from Patent EP1572962.
JD083188 - Sequence 64212 from Patent EP1572962.
JD561276 - Sequence 542300 from Patent EP1572962.
JD101852 - Sequence 82876 from Patent EP1572962.
JD481112 - Sequence 462136 from Patent EP1572962.
JD247066 - Sequence 228090 from Patent EP1572962.
JD247067 - Sequence 228091 from Patent EP1572962.
JD247068 - Sequence 228092 from Patent EP1572962.
JD413476 - Sequence 394500 from Patent EP1572962.
JD131536 - Sequence 112560 from Patent EP1572962.
JD198171 - Sequence 179195 from Patent EP1572962.
JD459836 - Sequence 440860 from Patent EP1572962.
JD271429 - Sequence 252453 from Patent EP1572962.
JD212775 - Sequence 193799 from Patent EP1572962.
JD536553 - Sequence 517577 from Patent EP1572962.
JD231039 - Sequence 212063 from Patent EP1572962.
JD542802 - Sequence 523826 from Patent EP1572962.
JD247065 - Sequence 228089 from Patent EP1572962.
JD142550 - Sequence 123574 from Patent EP1572962.
JD222895 - Sequence 203919 from Patent EP1572962.
JD497747 - Sequence 478771 from Patent EP1572962.
JD042938 - Sequence 23962 from Patent EP1572962.
JD082999 - Sequence 64023 from Patent EP1572962.
JD245541 - Sequence 226565 from Patent EP1572962.
JD193900 - Sequence 174924 from Patent EP1572962.
JD504579 - Sequence 485603 from Patent EP1572962.
JD082486 - Sequence 63510 from Patent EP1572962.
JD301958 - Sequence 282982 from Patent EP1572962.
JD536276 - Sequence 517300 from Patent EP1572962.
JD156507 - Sequence 137531 from Patent EP1572962.
JD240430 - Sequence 221454 from Patent EP1572962.
JD356815 - Sequence 337839 from Patent EP1572962.
JD457552 - Sequence 438576 from Patent EP1572962.
JD293488 - Sequence 274512 from Patent EP1572962.
JD160442 - Sequence 141466 from Patent EP1572962.
JD060942 - Sequence 41966 from Patent EP1572962.
JD175556 - Sequence 156580 from Patent EP1572962.
JD553837 - Sequence 534861 from Patent EP1572962.
JD503266 - Sequence 484290 from Patent EP1572962.
JD232380 - Sequence 213404 from Patent EP1572962.
BC016305 - Homo sapiens GTPase activating Rap/RanGAP domain-like 1, mRNA (cDNA clone IMAGE:4076117), partial cds.
JD206686 - Sequence 187710 from Patent EP1572962.
JD424546 - Sequence 405570 from Patent EP1572962.
JD351935 - Sequence 332959 from Patent EP1572962.
JD244494 - Sequence 225518 from Patent EP1572962.
JD102418 - Sequence 83442 from Patent EP1572962.
JD042492 - Sequence 23516 from Patent EP1572962.
JD495031 - Sequence 476055 from Patent EP1572962.
JD411204 - Sequence 392228 from Patent EP1572962.
JD301631 - Sequence 282655 from Patent EP1572962.
JD277471 - Sequence 258495 from Patent EP1572962.
JD401878 - Sequence 382902 from Patent EP1572962.
JD159882 - Sequence 140906 from Patent EP1572962.
JD037699 - Sequence 18723 from Patent EP1572962.
JD111537 - Sequence 92561 from Patent EP1572962.
JD264021 - Sequence 245045 from Patent EP1572962.
JD181869 - Sequence 162893 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AB020691, GARNL1, KIAA0884, NM_014990, NP_055805, Q6GYQ0-3, TULIP1
UCSC ID: uc001wtk.1
RefSeq Accession: NM_014990
Protein: Q6GYQ0-3, splice isoform of Q6GYQ0

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AB020691.1
exon count: 17CDS single in 3' UTR: no RNA size: 4487
ORF size: 2868CDS single in intron: no Alignment % ID: 99.87
txCdsPredict score: 5812.00frame shift in genome: no % Coverage: 100.00
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: 1721# 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.