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

Gene ID: 64598, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100612162..100615377)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101852243..101855458)
105.20220307 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. 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

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)

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 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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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_2023_10

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

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
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75425.1 GenPept UniProtKB/Swiss-Prot:O75425

Gene LinkOut

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