Human Gene PLEKHH1 (uc010tsw.1) Description and Page Index
  Description: Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr14:68,035,750-68,056,255 Size: 20,506 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr14:68,035,888-68,053,952 Size: 18,065 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene 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 (chr14:68,035,750-68,056,255)mRNA (may differ from genome)Protein (932 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
PubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: PKHH1_HUMAN
DESCRIPTION: RecName: Full=Pleckstrin homology domain-containing family H member 1; Short=PH domain-containing family H member 1;
SIMILARITY: Contains 1 FERM domain.
SIMILARITY: Contains 1 MyTH4 domain.
SIMILARITY: Contains 2 PH domains.
SEQUENCE CAUTION: Sequence=BAA86514.1; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: PLEKHH1
Diseases sorted by gene-association score: gestational trophoblastic neoplasm (5)

-  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: 64.35 RPKM in Thyroid
Total median expression: 314.84 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 -57.70138-0.418 Picture PostScript Text
3' UTR -683.842303-0.297 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
IPR019749 - Band_41_domain
IPR014352 - FERM/acyl-CoA-bd_prot_3-hlx
IPR019748 - FERM_central
IPR000299 - FERM_domain
IPR000857 - MyTH4_dom
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology

Pfam Domains:
PF00169 - PH domain
PF00373 - FERM central domain
PF00784 - MyTH4 domain
PF14593 - PH domain

SCOP Domains:
47031 - Second domain of FERM
50729 - PH domain-like

ModBase Predicted Comparative 3D Structure on Q9ULM0
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 orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005856 cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AK307428 - Homo sapiens cDNA, FLJ97376.
AB033026 - Homo sapiens KIAA1200 mRNA for KIAA1200 protein.
BC146787 - Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1, mRNA (cDNA clone MGC:166876 IMAGE:9007246), complete cds.
AB384136 - Synthetic construct DNA, clone: pF1KSDA1200, Homo sapiens PLEKHH1 gene for pleckstrin homology domain-containing protein, family H member 1, complete cds, without stop codon, in Flexi system.
AK295896 - Homo sapiens cDNA FLJ56902 complete cds, highly similar to Homo sapiens pleckstrin homology domain containing, family H member 1, mRNA.
AK123305 - Homo sapiens cDNA FLJ41311 fis, clone BRAMY2042760.
BX648464 - Homo sapiens mRNA; cDNA DKFZp686C0111 (from clone DKFZp686C0111).
AK293950 - Homo sapiens cDNA FLJ55536 complete cds, highly similar to Homo sapiens pleckstrin homology domain containing, family H member 1, mRNA.
BX648137 - Homo sapiens mRNA; cDNA DKFZp686H1246 (from clone DKFZp686H1246).
AK124787 - Homo sapiens cDNA FLJ42797 fis, clone BRAWH3008697, highly similar to Homo sapiens pleckstrin homology domain containing, family H member 1, mRNA.
BC014159 - Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1, mRNA (cDNA clone IMAGE:4542621), partial cds.
DQ587411 - Homo sapiens piRNA piR-54523, complete sequence.
AK123262 - Homo sapiens cDNA FLJ41268 fis, clone BRAMY2036076.
BC037820 - Homo sapiens cDNA clone IMAGE:4800000.
JD145313 - Sequence 126337 from Patent EP1572962.
JD096538 - Sequence 77562 from Patent EP1572962.
JD164369 - Sequence 145393 from Patent EP1572962.
JD356243 - Sequence 337267 from Patent EP1572962.
JD303185 - Sequence 284209 from Patent EP1572962.
JD299343 - Sequence 280367 from Patent EP1572962.
JD363967 - Sequence 344991 from Patent EP1572962.
JD214809 - Sequence 195833 from Patent EP1572962.
JD239600 - Sequence 220624 from Patent EP1572962.
JD490016 - Sequence 471040 from Patent EP1572962.
JD226056 - Sequence 207080 from Patent EP1572962.
JD433333 - Sequence 414357 from Patent EP1572962.
JD292329 - Sequence 273353 from Patent EP1572962.
JD260048 - Sequence 241072 from Patent EP1572962.
JD363634 - Sequence 344658 from Patent EP1572962.
JD225905 - Sequence 206929 from Patent EP1572962.
JD563088 - Sequence 544112 from Patent EP1572962.
JD112600 - Sequence 93624 from Patent EP1572962.
JD239439 - Sequence 220463 from Patent EP1572962.
JD081684 - Sequence 62708 from Patent EP1572962.
JD486946 - Sequence 467970 from Patent EP1572962.
JD253227 - Sequence 234251 from Patent EP1572962.
JD116002 - Sequence 97026 from Patent EP1572962.
JD415723 - Sequence 396747 from Patent EP1572962.
JD284996 - Sequence 266020 from Patent EP1572962.
JD238702 - Sequence 219726 from Patent EP1572962.
JD548385 - Sequence 529409 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6H8X6, AK295896, KIAA1200, NM_020715, NP_065766, PKHH1_HUMAN, Q6PJL4, Q6ZWC7, Q9ULM0
UCSC ID: uc010tsw.1
RefSeq Accession: NM_020715
Protein: Q9ULM0 (aka PKHH1_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK295896.1
exon count: 22CDS single in 3' UTR: no RNA size: 3383
ORF size: 2799CDS single in intron: no Alignment % ID: 99.79
txCdsPredict score: 4207.00frame 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: 105# 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.