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    MOSPD3 motile sperm domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 64598, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MOSPD3provided by HGNC
    Official Full Name
    motile sperm domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:25078
    See related
    Ensembl:ENSG00000106330 MIM:609125; AllianceGenome:HGNC:25078
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDS3; NET30
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 10.0), adrenal (RPKM 6.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MOSPD3 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100612162..100615377)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101852243..101855458)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100209785..100213000)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100187581-100188381 Neighboring gene PCOLCE antisense RNA 1 Neighboring gene F-box protein 24 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100201095-100201887 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26376 Neighboring gene procollagen C-endopeptidase enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18450 Neighboring gene uncharacterized LOC124901709 Neighboring gene uncharacterized LOC124901710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100224056-100224820 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100224821-100225583 Neighboring gene transferrin receptor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18453 Neighboring gene actin like 6B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100246946-100247492 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100247493-100248037

    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. 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
    2. A novel transmembrane MSP-containing protein that plays a role in right ventricle development. Pall GS, et al. Genomics, 2004 Dec. PMID 15533722
    3. Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. Glöckner G, et al. Genome Res, 1998 Oct. PMID 9799793, Free PMC Article
    4. Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. Zeng H, et al. Elife, 2019 Nov 19. PMID 31741433, Free PMC Article
    5. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article

    See all (12) 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. Deletion fo the Mospd3 locus is mutagenic and breeding to homozygosity results in a characteristic right ventricle defect and neonatal lethality in 50% of mice.
      Title: A novel transmembrane MSP-containing protein that plays a role in right ventricle development.
    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)

    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 heart development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    motile sperm domain-containing protein 3

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001040097.2 → NP_001035186.1  motile sperm domain-containing protein 3 isoform a

      See identical proteins and their annotated locations for NP_001035186.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
      Source sequence(s)
      AC099394, BC011653
      Consensus CDS
      CCDS5701.1
      UniProtKB/Swiss-Prot
      A4D2D1, A6NG17, C9JE89, D6W5W1, O75423, O75424, O75425
      UniProtKB/TrEMBL
      C9J3M4
      Related
      ENSP00000223054.4, ENST00000223054.8
      Conserved Domains (1) summary
      pfam00635
      Location:41 → 118
      Motile_Sperm; MSP (Major sperm protein) domain

    2. NM_001040098.1 → NP_001035187.1  motile sperm domain-containing protein 3 isoform a

      See identical proteins and their annotated locations for NP_001035187.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
      Source sequence(s)
      BC005042, BC011653, BQ923161
      Consensus CDS
      CCDS5701.1
      UniProtKB/Swiss-Prot
      A4D2D1, A6NG17, C9JE89, D6W5W1, O75423, O75424, O75425
      UniProtKB/TrEMBL
      C9J3M4
      Related
      ENSP00000368842.2, ENST00000379527.6
      Conserved Domains (1) summary
      pfam00635
      Location:41 → 118
      Motile_Sperm; MSP (Major sperm protein) domain

    3. NM_001040099.2 → NP_001035188.1  motile sperm domain-containing protein 3 isoform b

      See identical proteins and their annotated locations for NP_001035188.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform b).
      Source sequence(s)
      BC028475, BG707362
      Consensus CDS
      CCDS47662.1
      UniProtKB/TrEMBL
      C9J3M4
      Related
      ENSP00000404626.2, ENST00000424091.2
      Conserved Domains (1) summary
      pfam00635
      Location:41 → 108
      Motile_Sperm; MSP (Major sperm protein) domain

    4. NM_001363415.1 → NP_001350344.1  motile sperm domain-containing protein 3 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC099394, BE745548, CN256396
      Consensus CDS
      CCDS5701.1
      UniProtKB/Swiss-Prot
      A4D2D1, A6NG17, C9JE89, D6W5W1, O75423, O75424, O75425
      UniProtKB/TrEMBL
      C9J3M4
      Conserved Domains (1) summary
      pfam00635
      Location:41 → 118
      Motile_Sperm; MSP (Major sperm protein) domain

    5. NM_001363416.1 → NP_001350345.1  motile sperm domain-containing protein 3 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC099394, CN256396, HY025137
      Consensus CDS
      CCDS5701.1
      UniProtKB/Swiss-Prot
      A4D2D1, A6NG17, C9JE89, D6W5W1, O75423, O75424, O75425
      UniProtKB/TrEMBL
      C9J3M4
      Conserved Domains (1) summary
      pfam00635
      Location:41 → 118
      Motile_Sperm; MSP (Major sperm protein) domain

    6. NM_023948.5 → NP_076438.1  motile sperm domain-containing protein 3 isoform a

      See identical proteins and their annotated locations for NP_076438.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2 and 3 encode the same isoform.
      Source sequence(s)
      BC011653
      Consensus CDS
      CCDS5701.1
      UniProtKB/Swiss-Prot
      A4D2D1, A6NG17, C9JE89, D6W5W1, O75423, O75424, O75425
      UniProtKB/TrEMBL
      C9J3M4
      Related
      ENSP00000377522.2, ENST00000393950.7
      Conserved Domains (1) summary
      pfam00635
      Location:41 → 118
      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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      100612162..100615377
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420714.1 → XP_047276670.1  motile sperm domain-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A4D2D1, A6NG17, C9JE89, D6W5W1, O75423, O75424, O75425
      UniProtKB/TrEMBL
      C9J3M4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      101852243..101855458
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358805.1 → XP_054214780.1  motile sperm domain-containing protein 3 isoform X1

      UniProtKB/Swiss-Prot
      A4D2D1, A6NG17, C9JE89, D6W5W1, O75423, O75424, O75425
      UniProtKB/TrEMBL
      C9J3M4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75425.1 GenPept UniProtKB/Swiss-Prot:O75425

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