• Gene id: 57476

Gene Summary

• Gene Symbol: GRAMD1B   Gene   UCSC   Ensembl
• Aliases: LINC01059
• Gene name: GRAM domain containing 1B
• Alternate names: protein Aster-B, GRAM domain-containing protein 1B, long intergenic non-protein coding RNA 1059,
• Gene location: 11q24.1 (123358298: 123627788)     Exons: 34     NC_000011.10
• OMIM: 616633

Protein Summary

• Protein general information: Q3KR37  
  • Name: Protein Aster B (GRAM domain containing protein 1B)
  • Length: 738  
  • Mass: 85400
• Sequence:

  MKGFKLSCTASNSNRSTPACSPILRKRSRSPTPQNQDGDTMVEKGSDHSSDKSPSTPEQGVQRSCSSQSGRSGGK
  NSKKSQSWYNVLSPTYKQRNEDFRKLFKQLPDTERLIVDYSCALQRDILLQGRLYLSENWICFYSNIFRWETLLT
  VRLKDICSMTKEKTARLIPNAIQVCTDSEKHFFTSFGARDRTYMMMFRLWQNALLEKPLCPKELWHFVHQCYGNE
  LGLTSDDEDYVPPDDDFNTMGYCEEIPVEENEVNDSSSKSSIETKPDASPQLPKKSITNSTLTSTGSSEAPVSFD
  GLPLEEEALEGDGSLEKELAIDNIMGEKIEMIAPVNSPSLDFNDNEDIPTELSDSSDTHDEGEVQAFYEDLSGRQ
  YVNEVFNFSVDKLYDLLFTNSPFQRDFMEQRRFSDIIFHPWKKEENGNQSRVILYTITLTNPLAPKTATVRETQT
  MYKASQESECYVIDAEVLTHDVPYHDYFYTINRYTLTRVARNKSRLRVSTELRYRKQPWGLVKTFIEKNFWSGLE
  DYFRHLESELAKTESTYLAEMHRQSPKEKASKTTTVRRRKRPHAHLRVPHLEEVMSPVTTPTDEDVGHRIKHVAG
  STQTRHIPEDTPNGFHLQSVSKLLLVISCVICFSLVLLVILNMMLFYKLWMLEYTTQTLTAWQGLRLQERLPQSQ
  TEWAQLLESQQKYHDTELQKWREIIKSSVMLLDQMKDSLINLQNGIRSRDYTSESEEKRNRYH

• Structural information:
  • Protein Domains: (96..16-)
    (/note="GRAM-)
    (/evidence="ECO:0000255-)
    (372..54-)
    (/note="VASt-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01114"-)
  • Interpro: IPR004182  IPR011993  IPR031968  
  • Prosite: PS51778
  • STRING: ENSP00000402457
• Other Databases: GeneCards:  GRAMD1B  Malacards:  GRAMD1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0140268	endoplasmic reticulum-plasma membrane contact site	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0001786	phosphatidylserine binding	ISS	molecular function
GO:0042632	cholesterol homeostasis	ISS	biological process
GO:0120020	cholesterol transfer activity	ISS	molecular function
GO:0070300	phosphatidic acid binding	ISS	molecular function
GO:0015485	cholesterol binding	ISS	molecular function
GO:0071397	cellular response to cholesterol	ISS	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0001786	phosphatidylserine binding	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0042632	cholesterol homeostasis	IEA	biological process
GO:0140268	endoplasmic reticulum-plasma membrane contact site	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015485	cholesterol binding	IEA	molecular function
GO:0070300	phosphatidic acid binding	IEA	molecular function
GO:0071397	cellular response to cholesterol	IEA	biological process
GO:0120020	cholesterol transfer activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	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
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R