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Aliases for MOSPD1 Gene

Aliases for MOSPD1 Gene

  • Motile Sperm Domain Containing 1 2 3 5
  • Motile Sperm Domain-Containing Protein 1 3
  • DJ473B4 3

External Ids for MOSPD1 Gene

Previous GeneCards Identifiers for MOSPD1 Gene

  • GC0XM132728
  • GC0XM133747
  • GC0XM133849
  • GC0XM134021
  • GC0XM123419

Summaries for MOSPD1 Gene

GeneCards Summary for MOSPD1 Gene

MOSPD1 (Motile Sperm Domain Containing 1) is a Protein Coding gene. Diseases associated with MOSPD1 include Conotruncal Heart Malformations. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is MOSPD3.

UniProtKB/Swiss-Prot for MOSPD1 Gene

  • Plays a role in differentiation and/or proliferation of mesenchymal stem cells. Proposed to be involved in epithelial-to-mesenchymal transition (EMT). However, another study suggests that it is not required for EMT or stem cell self-renewal and acts during later stages of differentiation.

Additional gene information for MOSPD1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MOSPD1 Gene

Genomics for MOSPD1 Gene

GeneHancer (GH) Regulatory Elements for MOSPD1 Gene

Promoters and enhancers for MOSPD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI134913 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 552.6 +0.4 397 2.1 PKNOX1 ARID4B SIN3A GLI4 ZNF2 ZNF121 POLR2B ZNF766 ZNF143 ATF7 MOSPD1 ZNF75D INTS6L FAM122B PHF6 RTL8B GC0XP134864
GH0XI134903 Promoter 0.5 EPDnew 550.4 +11.4 11406 0.1 MOSPD1 GC0XP134864
GH0XI134908 Enhancer 0.8 Ensembl ENCODE 0.4 +6.9 6872 0.7 CTCF ZNF654 CBFA2T3 REST ZNF398 RAD21 SMC3 PRDM10 PRDM4 ZBTB17 SMIM10 MOSPD1 GC0XP134864
GH0XI134883 Enhancer 0.7 ENCODE 0.3 +29.3 29270 5.6 MEIS2 PKNOX1 JUN ZNF121 GATA3 ZNF316 POLR2A FOS MAFK TCF7L2 SMIM10L2B GC0XP134864 MOSPD1
GH0XI134869 Enhancer 0.6 ENCODE 0.2 +46.0 45961 0.2 ZBTB21 JUN INSM2 CEBPB ZEB2 EP300 BRCA1 FOSL1 PRDM6 JUND GC0XP134864 MOSPD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MOSPD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MOSPD1 gene promoter:

Genomic Locations for MOSPD1 Gene

Genomic Locations for MOSPD1 Gene
chrX:134,887,626-134,915,267
(GRCh38/hg38)
Size:
27,642 bases
Orientation:
Minus strand
chrX:134,021,656-134,049,297
(GRCh37/hg19)

Genomic View for MOSPD1 Gene

Genes around MOSPD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MOSPD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MOSPD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MOSPD1 Gene

Proteins for MOSPD1 Gene

  • Protein details for MOSPD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJG1-MSPD1_HUMAN
    Recommended name:
    Motile sperm domain-containing protein 1
    Protein Accession:
    Q9UJG1
    Secondary Accessions:
    • B2RE62
    • D3DTG5
    • Q5H9C5
    • Q5H9C7

    Protein attributes for MOSPD1 Gene

    Size:
    213 amino acids
    Molecular mass:
    24086 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MOSPD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MOSPD1 Gene

Post-translational modifications for MOSPD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MOSPD1 Gene

No data available for DME Specific Peptides for MOSPD1 Gene

Domains & Families for MOSPD1 Gene

Gene Families for MOSPD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MOSPD1 Gene

Suggested Antigen Peptide Sequences for MOSPD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MOSPD1: view

No data available for UniProtKB/Swiss-Prot for MOSPD1 Gene

Function for MOSPD1 Gene

Molecular function for MOSPD1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in differentiation and/or proliferation of mesenchymal stem cells. Proposed to be involved in epithelial-to-mesenchymal transition (EMT). However, another study suggests that it is not required for EMT or stem cell self-renewal and acts during later stages of differentiation.

Phenotypes for MOSPD1 Gene

genes like me logo Genes that share phenotypes with MOSPD1: view

Animal Models for MOSPD1 Gene

MGI Knock Outs for MOSPD1:

Animal Model Products

miRNA for MOSPD1 Gene

miRTarBase miRNAs that target MOSPD1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MOSPD1 Gene

Localization for MOSPD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MOSPD1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MOSPD1 gene
Compartment Confidence
nucleus 4
endoplasmic reticulum 4
golgi apparatus 4
plasma membrane 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MOSPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with MOSPD1: view

Pathways & Interactions for MOSPD1 Gene

SuperPathways for MOSPD1 Gene

No Data Available

Interacting Proteins for MOSPD1 Gene

Selected Interacting proteins: Q9UJG1-MSPD1_HUMAN for MOSPD1 Gene via IID

Gene Ontology (GO) - Biological Process for MOSPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0030154 cell differentiation IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II ISS --
genes like me logo Genes that share ontologies with MOSPD1: view

No data available for Pathways by source and SIGNOR curated interactions for MOSPD1 Gene

Drugs & Compounds for MOSPD1 Gene

No Compound Related Data Available

Transcripts for MOSPD1 Gene

Unigene Clusters for MOSPD1 Gene

Motile sperm domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MOSPD1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b · 8c · 8d
SP1: - - - - -
SP2: - -
SP3: - - - - - -
SP4: - - - - - -
SP5: -
SP6: - -
SP7: - - -
SP8: - - - - -

Relevant External Links for MOSPD1 Gene

GeneLoc Exon Structure for
MOSPD1
ECgene alternative splicing isoforms for
MOSPD1

Expression for MOSPD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MOSPD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MOSPD1 Gene

This gene is overexpressed in Bone (54.3) and Pancreatic juice (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MOSPD1 Gene



Protein tissue co-expression partners for MOSPD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MOSPD1 Gene:

MOSPD1

SOURCE GeneReport for Unigene cluster for MOSPD1 Gene:

Hs.590789

Evidence on tissue expression from TISSUES for MOSPD1 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with MOSPD1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MOSPD1 Gene

Orthologs for MOSPD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MOSPD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MOSPD1 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia MOSPD1 34
  • 97 (a)
OneToOne
LOC481058 33
  • 93.58 (n)
cow
(Bos Taurus)
Mammalia MOSPD1 33 34
  • 93.58 (n)
rat
(Rattus norvegicus)
Mammalia Mospd1 33
  • 92.64 (n)
mouse
(Mus musculus)
Mammalia Mospd1 33 16 34
  • 91.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MOSPD1 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 85 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
chicken
(Gallus gallus)
Aves MOSPD1 33 34
  • 84.35 (n)
lizard
(Anolis carolinensis)
Reptilia MOSPD1 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mospd1 33
  • 79.03 (n)
Str.17325 33
African clawed frog
(Xenopus laevis)
Amphibia dj473b4-prov 33
zebrafish
(Danio rerio)
Actinopterygii mospd1 33 34
  • 67.45 (n)
Dr.1753 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5949 33
worm
(Caenorhabditis elegans)
Secernentea C34D10.1 33 34
  • 47.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToMany
Species where no ortholog for MOSPD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MOSPD1 Gene

ENSEMBL:
Gene Tree for MOSPD1 (if available)
TreeFam:
Gene Tree for MOSPD1 (if available)

Paralogs for MOSPD1 Gene

Paralogs for MOSPD1 Gene

(1) SIMAP similar genes for MOSPD1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MOSPD1: view

Variants for MOSPD1 Gene

Sequence variations from dbSNP and Humsavar for MOSPD1 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
VAR_036601 A breast cancer sample p.Val63Ile
rs1000075080 -- 134,894,809(-) C/A intron_variant
rs1000119311 -- 134,913,935(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000263652 -- 134,907,462(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000272391 -- 134,890,229(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MOSPD1 Gene

Variant ID Type Subtype PubMed ID
esv3577264 CNV gain 25503493
esv3577265 CNV gain 25503493
nsv507997 OTHER sequence alteration 20534489

Variation tolerance for MOSPD1 Gene

Residual Variation Intolerance Score: 29.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.54; 55.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MOSPD1 Gene

Human Gene Mutation Database (HGMD)
MOSPD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MOSPD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MOSPD1 Gene

Disorders for MOSPD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MOSPD1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
conotruncal heart malformations
  • cthm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MOSPD1

genes like me logo Genes that share disorders with MOSPD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MOSPD1 Gene

Publications for MOSPD1 Gene

  1. A Role for MOSPD1 in Mesenchymal Stem Cell Proliferation and Differentiation. (PMID: 26175344) Kara M … Forrester LM (Stem cells (Dayton, Ohio) 2015) 3 4 58
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58
  3. A novel transmembrane MSP-containing protein that plays a role in right ventricle development. (PMID: 15533722) Pall GS … Forrester LM (Genomics 2004) 2 3 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Xq26.1-26.3 duplication including MOSPD1 and GPC3 identified in boy with short stature and double outlet right ventricle. (PMID: 28636109) Hirota Y … Yamamgata T (American journal of medical genetics. Part A 2017) 3 58

Products for MOSPD1 Gene

Sources for MOSPD1 Gene

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