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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Likely pathogenic rs1951071576 RCV001291084
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 32132097 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder GWASCAT_DG 29121268
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma GWASCAT_DG 25117820
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29934528
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 29934528 Associate
★☆☆☆☆
Found in Text Mining only
Child Development Disorders, Pervasive Development Disorder GWASCAT_DG 28540026
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia GWASDB_DG 18758461, 22700719, 23770605, 24292274
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia Lymphocytic Leukemia GWASCAT_DG 18758461, 22700719, 23770605, 24292274, 26956414, 28112199, 28165464
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Erectile dysfunction Erectile Dysfunction GWASDB_DG 22704111
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 35676651 Stimulate
★☆☆☆☆
Found in Text Mining only