• Gene id: 54762

Gene Summary

• Gene Symbol: GRAMD1C   Gene   UCSC   Ensembl
• Gene name: GRAM domain containing 1C
• Alternate names: protein Aster-C, GRAM domain-containing protein 1C,
• Gene location: 3q13.31 (113828181: 113947173)     Exons: 22     NC_000003.12

Protein Summary

• Protein general information: Q8IYS0  
  • Name: Protein Aster C (GRAM domain containing protein 1C)
  • Length: 662  
  • Mass: 76035
• Sequence:

  MEGAPTVRQVMNEGDSSLATDLQEDVEENPSPTVEENNVVVKKQGPNLHNWSGDWSFWISSSTYKDRNEEYRRQF
  THLPDTERLIADYACALQRDILLQGRLYLSENWLCFYSNIFRWETTISIALKNITFMTKEKTARLIPNAIQIVTE
  SEKFFFTSFGARDRSYLSIFRLWQNVLLDKSLTRQEFWQLLQQNYGTELGLNAEEMENLSLSIEDVQPRSPGRSS
  LDDSGERDEKLSKSISFTSESISRVSETESFDGNSSKGGLGKEESQNEKQTKKSLLPTLEKKLTRVPSKSLDLNK
  NEYLSLDKSSTSDSVDEENVPEKDLHGRLFINRIFHISADRMFELLFTSSRFMQKFASSRNIIDVVSTPWTAELG
  GDQLRTMTYTIVLNSPLTGKCTAATEKQTLYKESREARFYLVDSEVLTHDVPYHDYFYTVNRYCIIRSSKQKCRL
  RVSTDLKYRKQPWGLVKSLIEKNSWSSLEDYFKQLESDLLIEESVLNQAIEDPGKLTGLRRRRRTFNRTAETVPK
  LSSQHSSGDVGLGAKGDITGKKKEMENYNVTLIVVMSIFVLLLVLLNVTLFLKLSKIEHAAQSFYRLRLQEEKSL
  NLASDMVSRAETIQKNKDQAHRLKGVLRDSIVMLEQLKSSLIMLQKTFDLLNKNKTGMAVES

• Structural information:
  • Protein Domains: (69..13-)
    (/note="GRAM-)
    (/evidence="ECO:0000255-)
    (326..49-)
    (/note="VASt-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01114"-)
  • Interpro: IPR004182  IPR011993  IPR031968  
  • Prosite: PS51778
  • PDB: 6GN5
  • PDBsum: 6GN5
  • STRING: ENSP00000350881
• Other Databases: GeneCards:  GRAMD1C  Malacards:  GRAMD1C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0140268	endoplasmic reticulum-plasma membrane contact site	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0005886	plasma membrane	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:0008289	lipid binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0015918	sterol transport	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray