• Gene id: 83742

Gene Summary

• Gene Symbol: MARVELD1   Gene   UCSC   Ensembl
• Aliases: GB14, MARVD1, MRVLDC1, bA548K23.8
• Gene name: MARVEL domain containing 1
• Alternate names: MARVEL domain-containing protein 1, MARVEL (membrane-associating) domain containing 1, putative MARVEL domain-containing protein 1,
• Gene location: 10q24.2 (97713729: 97718149)     Exons: 3     NC_000010.11
• OMIM: 616970

Protein Summary

• Protein general information: Q9BSK0  
  • Name: MARVEL domain containing protein 1
  • Length: 173  
  • Mass: 18914
  • Tissue specificity: Widely expressed in normal tissues. Down-regulated in multiple primary tumors. {ECO
• Sequence:

  MLPPPPRQPPPQARAARGAVRLQRPFLRSPLGVLRLLQLLAGAAFWITIATSKYQGPVHFALFVSVLFWLLTLGL
  YFLTLLGKHELVPVLGSRWLMVNVAHDVLAAALYGAATGIMSDQMQRHSYCNLKDYPLPCAYHAFLAAAVCGGVC
  HGLYLLSALYGCGRRCQGKQEVA

• Structural information:
  • Protein Domains: (26..16-)
    (/note="MARVEL-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00581"-)
  • Interpro: IPR008253  
  • Prosite: PS51225
  • STRING: ENSP00000441365
• Other Databases: GeneCards:  MARVELD1  Malacards:  MARVELD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042552	myelination	IBA	biological process
GO:0019911	structural constituent of myelin sheath	IBA	molecular function
GO:0016021	integral component of membrane	IBA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881