Human Gene MOSPD3 (uc003uvs.3)
  Description: Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 1, mRNA.
RefSeq Summary (NM_023948): This gene encodes a multi-pass membrane protein with a major sperm protein (MSP) domain. The deletion of a similar mouse gene is associated with defective cardiac development and neonatal lethality. Alternate transcriptional splice variants, encoding different isoforms, have been described. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr7:100,210,114-100,213,000 Size: 2,887 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr7:100,210,415-100,212,806 Size: 2,392 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:100,210,114-100,213,000)mRNA (may differ from genome)Protein (235 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MSPD3_HUMAN
DESCRIPTION: RecName: Full=Motile sperm domain-containing protein 3;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
SIMILARITY: Contains 1 MSP domain.

-  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): MOSPD3
CDC HuGE Published Literature: MOSPD3
Positive Disease Associations: Erythrocyte Indices
Related Studies:
  1. Erythrocyte Indices
    Santhi K Ganesh et al. Nature genetics 2009, Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium., Nature genetics. [PubMed 19862010]

-  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: 45.25 RPKM in Testis
Total median expression: 583.35 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 -157.20301-0.522 Picture PostScript Text
3' UTR -37.00194-0.191 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
IPR000535 - Major_sperm
IPR008962 - PapD-like

Pfam Domains:
PF00635 - MSP (Major sperm protein) domain

SCOP Domains:
49354 - PapD-like

ModBase Predicted Comparative 3D Structure on O75425
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0007507 heart development

Cellular Component:
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  LF206988 - JP 2014500723-A/14491: Polycomb-Associated Non-Coding RNAs.
BC011653 - Homo sapiens motile sperm domain containing 3, mRNA (cDNA clone MGC:12773 IMAGE:4299899), complete cds.
BC009482 - Homo sapiens cDNA clone IMAGE:4053120, containing frame-shift errors.
BC028475 - Homo sapiens motile sperm domain containing 3, mRNA (cDNA clone IMAGE:4054338).
BC005042 - Homo sapiens motile sperm domain containing 3, mRNA (cDNA clone MGC:12772 IMAGE:3689026), complete cds.
JD520187 - Sequence 501211 from Patent EP1572962.
JD426156 - Sequence 407180 from Patent EP1572962.
JD278971 - Sequence 259995 from Patent EP1572962.
JD375298 - Sequence 356322 from Patent EP1572962.
JD124555 - Sequence 105579 from Patent EP1572962.
JD338299 - Sequence 319323 from Patent EP1572962.
JD260934 - Sequence 241958 from Patent EP1572962.
KJ894562 - Synthetic construct Homo sapiens clone ccsbBroadEn_03956 MOSPD3 gene, encodes complete protein.
JD022819 - Sequence 3843 from Patent EP1572962.
JD322848 - Sequence 303872 from Patent EP1572962.
JD383379 - Sequence 364403 from Patent EP1572962.
JD456627 - Sequence 437651 from Patent EP1572962.
JD425538 - Sequence 406562 from Patent EP1572962.
JD475246 - Sequence 456270 from Patent EP1572962.
JD164819 - Sequence 145843 from Patent EP1572962.
MA442565 - JP 2018138019-A/14491: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A4D2D1, A6NG17, C9JE89, D6W5W1, MSPD3_HUMAN, NM_023948, NP_076438, O75423, O75424, O75425
UCSC ID: uc003uvs.3
RefSeq Accession: NM_023948
Protein: O75425 (aka MSPD3_HUMAN)
CCDS: CCDS5701.1, CCDS47662.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_023948.4
exon count: 5CDS single in 3' UTR: no RNA size: 1213
ORF size: 708CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1428.50frame shift in genome: no % Coverage: 99.18
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: 239# 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.