Gene Gene information from NCBI Gene database.
Entrez ID 51128
Gene name Secretion associated Ras related GTPase 1B
Gene symbol SAR1B
Synonyms (NCBI Gene)
ANDDCMRDGTBPBSARA2
Chromosome 5
Chromosome location 5q31.1
Summary The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs28942109 C>T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs28942110 A>T Pathogenic Coding sequence variant, missense variant
rs121917846 C>T Pathogenic Coding sequence variant, missense variant
rs137853125 C>A Pathogenic Stop gained, coding sequence variant
rs137853126 C>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1304
miRTarBase ID miRNA Experiments Reference
MIRT048276 hsa-miR-196a-5p CLASH 23622248
MIRT038111 hsa-miR-423-5p CLASH 23622248
MIRT256436 hsa-miR-34b-3p HITS-CLIP 22927820
MIRT706192 hsa-miR-3614-5p HITS-CLIP 22927820
MIRT706191 hsa-miR-6500-3p HITS-CLIP 22927820
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
65
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002474 Process Antigen processing and presentation of peptide antigen via MHC class I TAS
GO:0003400 Process Regulation of COPII vesicle coating IBA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607690 10535 ENSG00000152700
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y6B6
Protein name Small COPII coat GTPase SAR1B (EC 3.6.5.2) (GTP-binding protein B) (GTBPB) (Secretion-associated Ras-related GTPase 1B)
Protein function Small GTPase that cycles between an active GTP-bound and an inactive GDP-bound state and mainly functions in vesicle-mediated endoplasmic reticulum (ER) to Golgi transport. The active GTP-bound form inserts into the endoplasmic reticulum membran
PDB 8E0A , 8E0B , 8E0C , 8E0D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00025 Arf 12 197 ADP-ribosylation factor family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues including small intestine, liver, muscle and brain. {ECO:0000269|PubMed:12692552}.
Sequence
Sequence length 198
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein processing in endoplasmic reticulum
Legionellosis
  COPII-mediated vesicle transport
MHC class II antigen presentation
Cargo concentration in the ER
Chylomicron assembly
Antigen Presentation: Folding, assembly and peptide loading of class I MHC
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
28
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chylomicron retention disease Likely pathogenic; Pathogenic rs61749633, rs121917846, rs28942109, rs1580653772, rs28942110, rs1580645070, rs1580645999, rs137853125, rs137853126, rs2484119129, rs1765180391 RCV001783710
RCV000003056
RCV000003057
RCV000003058
RCV000003059
RCV000003060
RCV000003061
RCV000003062
RCV000003063
RCV004595080
RCV003992486
SAR1B-related disorder Likely pathogenic rs28942110 RCV003398425
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs2305049 RCV005922259
Cholangiocarcinoma Benign rs2305049 RCV005922261
Hereditary pancreatitis Uncertain significance rs2150050070 RCV001507090
Lung cancer Benign rs2305049 RCV005922262
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abetalipoproteinemia Associate 27179706, 36771214
Alzheimer Disease Associate 25703997
Carcinoma Hepatocellular Stimulate 12450215
Chemke Oliver Mallek syndrome Associate 36771214
Chylomicron retention disease Associate 21235735, 22104167, 24338480, 29540175, 34629076, 36771214
Colorectal Neoplasms Inhibit 30943010
Dementia Vascular Associate 25703997
Hypobetalipoproteinemia Familial 1 Associate 36771214
Hypobetalipoproteinemias Associate 27179706
Neoplasm Metastasis Associate 30943010