Human Gene RSPH14 (ENST00000216036.9) Description and Page Index
  Description: Homo sapiens radial spoke head 14 homolog (RSPH14), mRNA. (from RefSeq NM_014433)
RefSeq Summary (NM_014433): This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF133587.1, BC008986.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158188 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216036.9/ ENSP00000216036.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000216036.9
Gencode Gene: ENSG00000100218.12
Transcript (Including UTRs)
   Position: hg38 chr22:23,059,415-23,141,990 Size: 82,576 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr22:23,059,462-23,140,420 Size: 80,959 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsRNA-Seq ExpressionMicroarray ExpressionRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr22:23,059,415-23,141,990)mRNA (may differ from genome)Protein (348 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSEnsembl
Entrez GeneExonPrimerGeneCardsHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Rhabdoid tumor deletion region protein 1;
TISSUE SPECIFICITY: Expressed in adult cerebellum, spinal cord, spleen, skeletal muscle and some/5 out of 9 rhabdoid tumors. Detected in fetal brain, lung, liver and kidney.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.88 RPKM in Testis
Total median expression: 32.73 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 -30.6094-0.326 Picture PostScript Text
3' UTR -9.6047-0.204 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

ModBase Predicted Comparative 3D Structure on Q9UHP6
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005515 protein binding

Biological Process:
GO:0008150 biological_process

Cellular Component:
GO:0005575 cellular_component

-  Descriptions from all associated GenBank mRNAs
  BC008986 - Homo sapiens rhabdoid tumor deletion region gene 1, mRNA (cDNA clone MGC:16968 IMAGE:4339021), complete cds.
AF133587 - Homo sapiens rhabdoid tumor deletion region protein 1 (RTDR1) mRNA, complete cds.
CR456567 - Homo sapiens RTDR1 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.RTDR1).
CU013167 - Homo sapiens RTDR1, mRNA (cDNA clone IMAGE:100000520), complete cds, with stop codon, in Gateway system.
KJ898669 - Synthetic construct Homo sapiens clone ccsbBroadEn_08063 RTDR1 gene, encodes complete protein.
AB463223 - Synthetic construct DNA, clone: pF1KB8463, Homo sapiens RTDR1 gene for rhabdoid tumor deletion region gene 1, without stop codon, in Flexi system.
CU013455 - Homo sapiens RTDR1, mRNA (cDNA clone IMAGE:100000424), complete cds, without stop codon, in Gateway system.
CU679213 - Synthetic construct Homo sapiens gateway clone IMAGE:100017059 5' read RTDR1 mRNA.
AK310327 - Homo sapiens cDNA, FLJ17369.
AK299530 - Homo sapiens cDNA FLJ52272 complete cds, highly similar to Rhabdoid tumor deletion region protein 1.
JD234719 - Sequence 215743 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_014433, Q9UHP6, RTDR1, RTDR1_HUMAN, uc002zwt.1, uc002zwt.2, uc002zwt.3, uc002zwt.4, uc002zwt.5
UCSC ID: uc002zwt.5
RefSeq Accession: NM_014433
Protein: Q9UHP6 (aka RTDR1_HUMAN or RTD1_HUMAN)
CCDS: CCDS13803.1

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