• Gene id: 57655

Gene Summary

• Gene Symbol: GRAMD1A   Gene   UCSC   Ensembl
• Aliases: KIAA1533
• Gene name: GRAM domain containing 1A
• Alternate names: protein Aster-A, GRAM domain-containing protein 1A,
• Gene location: 19q13.11 (34994726: 35026470)     Exons: 27     NC_000019.10
• OMIM: 0

Protein Summary

• Protein general information: Q96CP6  
  • Name: Protein Aster A (GRAM domain containing protein 1A)
  • Length: 724  
  • Mass: 80680
  • Tissue specificity: Expressed in liver. {ECO
• Sequence:

  MFDTTPHSGRSTPSSSPSLRKRLQLLPPSRPPPEPEPGTMVEKGSDSSSEKGGVPGTPSTQSLGSRNFIRNSKKM
  QSWYSMLSPTYKQRNEDFRKLFSKLPEAERLIVDYSCALQREILLQGRLYLSENWICFYSNIFRWETTISIQLKE
  VTCLKKEKTAKLIPNAIQICTESEKHFFTSFGARDRCFLLIFRLWQNALLEKTLSPRELWHLVHQCYGSELGLTS
  EDEDYVSPLQLNGLGTPKEVGDVIALSDITSSGAADRSQEPSPVGSRRGHVTPNLSRASSDADHGAEEDKEEQVD
  SQPDASSSQTVTPVAEPPSTEPTQPDGPTTLGPLDLLPSEELLTDTSNSSSSTGEEADLAALLPDLSGRLLINSV
  FHVGAERLQQMLFSDSPFLQGFLQQCKFTDVTLSPWSGDSKCHQRRVLTYTIPISNPLGPKSASVVETQTLFRRG
  PQAGGCVVDSEVLTQGIPYQDYFYTAHRYCILGLARNKARLRVSSEIRYRKQPWSLVKSLIEKNSWSGIEDYFHH
  LERELAKAEKLSLEEGGKDARGLLSGLRRRKRPLSWRAHGDGPQHPDPDPCARAGIHTSGSLSSRFSEPSVDQGP
  GAGIPSALVLISIVICVSLIILIALNVLLFYRLWSLERTAHTFESWHSLALAKGKFPQTATEWAEILALQKQFHS
  VEVHKWRQILRASVELLDEMKFSLEKLHQGITVSDPPFDTQPRPDDSFS

• Structural information:
  • Protein Domains: (91..15-)
    (/note="GRAM-)
    (/evidence="ECO:0000255-)
    (367..53-)
    (/note="VASt-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01114"-)
  • Interpro: IPR004182  IPR011993  IPR031968  
  • Prosite: PS51778
  • STRING: ENSP00000441032
• Other Databases: GeneCards:  GRAMD1A  Malacards:  GRAMD1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044232	organelle membrane contact site	IDA	cellular component
GO:0031227	intrinsic component of endoplasmic reticulum membrane	IDA	cellular component
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IDA	cellular component
GO:0140268	endoplasmic reticulum-plasma membrane contact site	ISS	cellular component
GO:0120020	cholesterol transfer activity	ISS	molecular function
GO:0015485	cholesterol binding	ISS	molecular function
GO:0071397	cellular response to cholesterol	ISS	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0140268	endoplasmic reticulum-plasma membrane contact site	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0120020	cholesterol transfer activity	IEA	molecular function
GO:0071397	cellular response to cholesterol	IEA	biological process
GO:0015485	cholesterol binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005776	autophagosome	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0015918	sterol transport	IEA	biological process
GO:0015918	sterol transport	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq