Gene Gene information from NCBI Gene database.
Entrez ID 57476
Gene name GRAM domain containing 1B
Gene symbol GRAMD1B
Synonyms (NCBI Gene)
LINC01059
Chromosome 11
Chromosome location 11q24.1
miRNA miRNA information provided by mirtarbase database.
531
miRTarBase ID miRNA Experiments Reference
MIRT716051 hsa-miR-877-3p HITS-CLIP 19536157
MIRT716050 hsa-miR-2116-3p HITS-CLIP 19536157
MIRT716049 hsa-miR-4691-5p HITS-CLIP 19536157
MIRT716048 hsa-miR-6792-3p HITS-CLIP 19536157
MIRT716047 hsa-miR-6749-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0001786 Function Phosphatidylserine binding ISS
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IDA 30220461
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620179 29214 ENSG00000023171
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q3KR37
Protein name Protein Aster-B (GRAM domain-containing protein 1B)
Protein function Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02893 GRAM 96 205 GRAM domain Domain
PF16016 VASt 375 523 VAD1 Analog of StAR-related lipid transfer domain Domain
Sequence
MKGFKLSCTASNSNRSTPACSPILRKRSRSPTPQNQDGDTMVEKGSDHSSDKSPSTPEQG
VQRSCSSQSGRSGGKNSKKSQSWYNVLSPTYKQRNEDFRKLFKQLPDTERLIVDYSCALQ
RDILLQGRLYLSENWICFYSNIFRWETLLTVRLKDICSMTKEKTARLIPNAIQVCTDSEK
HFFTSFGARDRTYMMMFRLWQNALL
EKPLCPKELWHFVHQCYGNELGLTSDDEDYVPPDD
DFNTMGYCEEIPVEENEVNDSSSKSSIETKPDASPQLPKKSITNSTLTSTGSSEAPVSFD
GLPLEEEALEGDGSLEKELAIDNIMGEKIEMIAPVNSPSLDFNDNEDIPTELSDSSDTHD
EGEVQAFYEDLSGRQYVNEVFNFSVDKLYDLLFTNSPFQRDFMEQRRFSDIIFHPWKKEE
NGNQSRVILYTITLTNPLAPKTATVRETQTMYKASQESECYVIDAEVLTHDVPYHDYFYT
INRYTLTRVARNKSRLRVSTELRYRKQPWGLVKTFIEKNFWSG
LEDYFRHLESELAKTES
TYLAEMHRQSPKEKASKTTTVRRRKRPHAHLRVPHLEEVMSPVTTPTDEDVGHRIKHVAG
STQTRHIPEDTPNGFHLQSVSKLLLVISCVICFSLVLLVILNMMLFYKLWMLEYTTQTLT
AWQGLRLQERLPQSQTEWAQLLESQQKYHDTELQKWREIIKSSVMLLDQMKDSLINLQNG
IRSRDYTSESEEKRNRYH
Sequence length 738
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Likely pathogenic rs1951071576 RCV001291084
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GRAMD1B-related disorder Likely benign; Benign; Uncertain significance rs200540342, rs374187128, rs540314980, rs10893053, rs732211, rs2279519, rs118067934, rs374118769, rs534553453, rs146845869, rs114469707, rs368223750, rs373483380, rs62641671 RCV003904235
RCV003906780
RCV003981364
RCV003979777
RCV003982498
RCV003982540
RCV003973851
RCV003911891
RCV003929539
RCV003929551
RCV003924590
RCV003954574
RCV003979074
RCV003943210
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 32132097
Breast Neoplasms Associate 29934528
Carcinoma Non Small Cell Lung Associate 36056349
Glioma Stimulate 35676651
Inflammation Associate 36553660
Intellectual Disability Associate 33604931
Leukemia B Cell Associate 20855867
Leukemia Lymphocytic Chronic B Cell Associate 20332261, 20639881, 20855867, 29547969
Leukemia Prolymphocytic T Cell Associate 20553269
Multiple Sclerosis Associate 36553660