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

Gene ID: 56180, updated on 3-Apr-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, Apr 2022]
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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Location:
Xq26.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (134887632..134915257, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (133212706..133240365, complement)
105.20220307 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
  • 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_2023_10

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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