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    MOSPD1 motile sperm domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 56180, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MOSPD1provided by HGNC
    Official Full Name
    motile sperm domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25235
    See related
    Ensembl:ENSG00000101928 MIM:300674; AllianceGenome:HGNC:25235
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DJ473B4
    Summary
    Predicted to be involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleus and perinuclear region of cytoplasm. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in endometrium (RPKM 7.2), adrenal (RPKM 6.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MOSPD1 in Genome Data Viewer
    Location:
    Xq26.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (134887632..134915257, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (133212706..133240365, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (134021662..134049287, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene placenta enriched 1 Neighboring gene RNA, U4 small nuclear 44, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21014 Neighboring gene PABIR family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29977 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:133942169-133943125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21015 Neighboring gene PABIR family member 3 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:133966100-133966314 Neighboring gene Sharpr-MPRA regulatory region 6850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21016 Neighboring gene MPRA-validated peak7431 silencer Neighboring gene RNA, U6 small nuclear 616, pseudogene Neighboring gene long intergenic non-protein coding RNA 2243

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A Role for MOSPD1 in Mesenchymal Stem Cell Proliferation and Differentiation. Kara M, et al. Stem Cells, 2015 Oct. PMID 26175344, Free PMC Article
    2. Human VAPome Analysis Reveals MOSPD1 and MOSPD3 as Membrane Contact Site Proteins Interacting with FFAT-Related FFNT Motifs. Cabukusta B, et al. Cell Rep, 2020 Dec 8. PMID 33296653
    3. Xq26.1-26.3 duplication including MOSPD1 and GPC3 identified in boy with short stature and double outlet right ventricle. Hirota Y, et al. Am J Med Genet A, 2017 Sep. PMID 28636109
    4. A novel transmembrane MSP-containing protein that plays a role in right ventricle development. Pall GS, et al. Genomics, 2004 Dec. PMID 15533722
    5. Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development. Hasegawa Y, et al. PLoS Genet, 2015 Aug. PMID 26288249, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human VAPome Analysis Reveals MOSPD1 and MOSPD3 as Membrane Contact Site Proteins Interacting with FFAT-Related FFNT Motifs.
      Title: Human VAPome Analysis Reveals MOSPD1 and MOSPD3 as Membrane Contact Site Proteins Interacting with FFAT-Related FFNT Motifs.
    2. Results from a study on gene expression variability markers in early-stage human embryos shows that MOSPD1 is a putative marker for the 3-day, 8-cell embryo stage.
      Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
    3. MOSPD1 is a possible candidate gene for DORV, probably in combination with GPC3. Further studies of the combined functions of MOSPD1 and GPC3 are needed, and identification of additional patients with MOSPD1 and GPC3 duplication should be pursued
      Title: Xq26.1-26.3 duplication including MOSPD1 and GPC3 identified in boy with short stature and double outlet right ventricle.
    4. Our in vitro studies were supported by RNA-sequencing data that confirmed expression of Mospd1 mRNA in cultured, proliferating perivascular pre-MSCs isolated from human tissue
      Title: A Role for MOSPD1 in Mesenchymal Stem Cell Proliferation and Differentiation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    motile sperm domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001306188.2 → NP_001293117.1  motile sperm domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001293117.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks a 3' coding exon but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      BC005700, CB997365, CN428237
      Consensus CDS
      CCDS78507.1
      UniProtKB/TrEMBL
      Q2I381
      Related
      ENSP00000359815.4, ENST00000370779.8
      Conserved Domains (1) summary
      pfam00635
      Location:16 → 115
      Motile_Sperm; MSP (Major sperm protein) domain

    2. NM_019556.3 → NP_062456.1  motile sperm domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_062456.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC005700, CN428237
      Consensus CDS
      CCDS14645.1
      UniProtKB/Swiss-Prot
      B2RE62, D3DTG5, Q5H9C5, Q5H9C7, Q9UJG1
      Related
      ENSP00000359819.3, ENST00000370783.8
      Conserved Domains (1) summary
      pfam00635
      Location:16 → 115
      Motile_Sperm; MSP (Major sperm protein) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      134887632..134915257 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442258.1 → XP_047298214.1  motile sperm domain-containing protein 1 isoform X2

    2. XM_017029653.2 → XP_016885142.1  motile sperm domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B2RE62, D3DTG5, Q5H9C5, Q5H9C7, Q9UJG1
      Conserved Domains (1) summary
      pfam00635
      Location:16 → 115
      Motile_Sperm; MSP (Major sperm protein) domain

    3. XM_017029654.2 → XP_016885143.1  motile sperm domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      Q2I381
      Conserved Domains (1) summary
      pfam00635
      Location:16 → 115
      Motile_Sperm; MSP (Major sperm protein) domain

    4. XM_011531366.3 → XP_011529668.1  motile sperm domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011529668.1

      UniProtKB/Swiss-Prot
      B2RE62, D3DTG5, Q5H9C5, Q5H9C7, Q9UJG1
      Conserved Domains (1) summary
      pfam00635
      Location:16 → 115
      Motile_Sperm; MSP (Major sperm protein) domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      133212706..133240365 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327411.1 → XP_054183386.1  motile sperm domain-containing protein 1 isoform X2

    2. XM_054327408.1 → XP_054183383.1  motile sperm domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B2RE62, D3DTG5, Q5H9C5, Q5H9C7, Q9UJG1

    3. XM_054327410.1 → XP_054183385.1  motile sperm domain-containing protein 1 isoform X2

    4. XM_054327409.1 → XP_054183384.1  motile sperm domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B2RE62, D3DTG5, Q5H9C5, Q5H9C7, Q9UJG1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJG1.1 GenPept UniProtKB/Swiss-Prot:Q9UJG1

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