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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
Chylomicron retention disease Likely pathogenic; Pathogenic rs61749633, rs121917846, rs28942109, rs1580653772, rs28942110, rs1580645070, rs1580645999, rs137853125, rs137853126, rs2484119129, rs1765180391 RCV001783710
RCV000003056
RCV000003057
RCV000003058
RCV000003059
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SAR1B-related disorder Likely pathogenic rs28942110 RCV003398425
★★★★☆
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hereditary pancreatitis Uncertain significance ClinVar
★★☆☆☆
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
Abetalipoproteinemia Abetalipoproteinemia BEFREE 21874758, 23043934, 26546829
★☆☆☆☆
Found in Text Mining only
Abetalipoproteinemia Abetalipoproteinemia Pubtator 27179706, 36771214 Associate
★☆☆☆☆
Found in Text Mining only
Abetalipoproteinemia Abetalipoproteinemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 25703997 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 12450215 Stimulate
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 30914956
★☆☆☆☆
Found in Text Mining only
Chylomicron retention disease Chylomicron Retention Disease CLINVAR_DG 12692552, 17945526, 19285442
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chylomicron retention disease Chylomicron Retention Disease UNIPROT_DG 12692552, 17309654, 19274794
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chylomicron retention disease Chylomicron Retention Disease BEFREE 15017362, 17945526, 18786134, 19285442, 19846172, 21235735, 21874758, 22104167, 22441101, 23043934, 25559265, 26546829, 28982670, 29540175, 31253576
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chylomicron retention disease Chylomicron Retention Disease ORPHANET_DG 18786134, 21235735
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)