Human Gene RSPRY1 (ENST00000394420.9) from GENCODE V44
  Description: Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), transcript variant 1, mRNA. (from RefSeq NM_133368)
RefSeq Summary (NM_133368): This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015].
Gencode Transcript: ENST00000394420.9
Gencode Gene: ENSG00000159579.14
Transcript (Including UTRs)
   Position: hg38 chr16:57,186,329-57,240,469 Size: 54,141 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg38 chr16:57,204,659-57,238,975 Size: 34,317 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:57,186,329-57,240,469)mRNA (may differ from genome)Protein (576 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGencode
GeneCardsHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RSPRY_HUMAN
DESCRIPTION: RecName: Full=RING finger and SPRY domain-containing protein 1; Flags: Precursor;
SUBCELLULAR LOCATION: Secreted (Potential).
SIMILARITY: Contains 1 B30.2/SPRY domain.
SIMILARITY: Contains 1 RING-type zinc finger.

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: RSPRY1
Diseases sorted by gene-association score: spondyloepimetaphyseal dysplasia, faden-alkuraya type* (1580), spondyloepimetaphyseal dysplasia (12)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.77 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 341.62 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 -85.10278-0.306 Picture PostScript Text
3' UTR -348.001494-0.233 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
IPR001870 - B30.2/SPRY
IPR008985 - ConA-like_lec_gl_sf
IPR018355 - SPla/RYanodine_receptor_subgr
IPR003877 - SPRY_rcpt
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00622 - SPRY domain

ModBase Predicted Comparative 3D Structure on Q96DX4
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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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0046872 metal ion binding

Cellular Component:
GO:0005576 extracellular region


-  Descriptions from all associated GenBank mRNAs
  LF208234 - JP 2014500723-A/15737: Polycomb-Associated Non-Coding RNAs.
MA443811 - JP 2018138019-A/15737: Polycomb-Associated Non-Coding RNAs.
KJ895107 - Synthetic construct Homo sapiens clone ccsbBroadEn_04501 RSPRY1 gene, encodes complete protein.
AK172845 - Homo sapiens cDNA FLJ24006 fis, clone KAT02158.
BC013173 - Homo sapiens ring finger and SPRY domain containing 1, mRNA (cDNA clone MGC:17340 IMAGE:4340287), complete cds.
LF384426 - JP 2014500723-A/191929: Polycomb-Associated Non-Coding RNAs.
MA620003 - JP 2018138019-A/191929: Polycomb-Associated Non-Coding RNAs.
AK027549 - Homo sapiens cDNA FLJ14643 fis, clone NT2RP2001597, weakly similar to RYANODINE RECEPTOR, CARDIAC MUSCLE.
AB075852 - Homo sapiens mRNA for KIAA1972 protein.
AY358548 - Homo sapiens clone DNA26846 IVFG328 (UNQ328) mRNA, complete cds.
JD560354 - Sequence 541378 from Patent EP1572962.
JD560484 - Sequence 541508 from Patent EP1572962.
LF373703 - JP 2014500723-A/181206: Polycomb-Associated Non-Coding RNAs.
MA609280 - JP 2018138019-A/181206: Polycomb-Associated Non-Coding RNAs.
JD095601 - Sequence 76625 from Patent EP1572962.
CU680540 - Synthetic construct Homo sapiens gateway clone IMAGE:100020367 5' read RSPRY1 mRNA.
AB384341 - Synthetic construct DNA, clone: pF1KSDA1972, Homo sapiens RSPRY1 gene for RING finger and SPRY domain-containing protein 1 precursor, complete cds, without stop codon, in Flexi system.
JF432296 - Synthetic construct Homo sapiens clone IMAGE:100073475 ring finger and SPRY domain containing 1 (RSPRY1) gene, encodes complete protein.
LF373704 - JP 2014500723-A/181207: Polycomb-Associated Non-Coding RNAs.
MA609281 - JP 2018138019-A/181207: Polycomb-Associated Non-Coding RNAs.
LF373705 - JP 2014500723-A/181208: Polycomb-Associated Non-Coding RNAs.
MA609282 - JP 2018138019-A/181208: Polycomb-Associated Non-Coding RNAs.
AK124601 - Homo sapiens cDNA FLJ42610 fis, clone BRACE3013576.
LF373708 - JP 2014500723-A/181211: Polycomb-Associated Non-Coding RNAs.
MA609285 - JP 2018138019-A/181211: Polycomb-Associated Non-Coding RNAs.
LF373710 - JP 2014500723-A/181213: Polycomb-Associated Non-Coding RNAs.
MA609287 - JP 2018138019-A/181213: Polycomb-Associated Non-Coding RNAs.
LF373713 - JP 2014500723-A/181216: Polycomb-Associated Non-Coding RNAs.
MA609290 - JP 2018138019-A/181216: Polycomb-Associated Non-Coding RNAs.
AL834402 - Homo sapiens mRNA; cDNA DKFZp547G173 (from clone DKFZp547G173).
LF373714 - JP 2014500723-A/181217: Polycomb-Associated Non-Coding RNAs.
MA609291 - JP 2018138019-A/181217: Polycomb-Associated Non-Coding RNAs.
JD209342 - Sequence 190366 from Patent EP1572962.
JD434130 - Sequence 415154 from Patent EP1572962.
JD349038 - Sequence 330062 from Patent EP1572962.
JD438156 - Sequence 419180 from Patent EP1572962.
LF373715 - JP 2014500723-A/181218: Polycomb-Associated Non-Coding RNAs.
MA609292 - JP 2018138019-A/181218: Polycomb-Associated Non-Coding RNAs.
JD340021 - Sequence 321045 from Patent EP1572962.
LF373716 - JP 2014500723-A/181219: Polycomb-Associated Non-Coding RNAs.
MA609293 - JP 2018138019-A/181219: Polycomb-Associated Non-Coding RNAs.
JD093207 - Sequence 74231 from Patent EP1572962.
JD504793 - Sequence 485817 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000394420.1, ENST00000394420.2, ENST00000394420.3, ENST00000394420.4, ENST00000394420.5, ENST00000394420.6, ENST00000394420.7, ENST00000394420.8, KIAA1972, NM_133368, Q6UX21, Q8ND53, Q96DX4, RSPRY_HUMAN, uc002elb.1, uc002elb.2, uc002elb.3, uc002elb.4, uc002elb.5, UNQ328/PRO444
UCSC ID: ENST00000394420.9
RefSeq Accession: NM_133368
Protein: Q96DX4 (aka RSPRY_HUMAN)
CCDS: CCDS10775.1

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