Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51128
Gene name Gene Name - the full gene name approved by the HGNC.
Secretion associated Ras related GTPase 1B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SAR1B
Synonyms (NCBI Gene) Gene synonyms aliases
ANDD, CMRD, GTBPB, SARA2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMRD
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002474 Process Antigen processing and presentation of peptide antigen via MHC class I TAS
GO:0003400 Process Regulation of COPII vesicle coating IBA 21873635
GO:0003924 Function GTPase activity IBA 21873635
GO:0003924 Function GTPase activity TAS
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607690 10535 ENSG00000152700
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Chylomicron retention disease Chylomicron retention disease rs121917846, rs28942109, rs1580653772, rs28942110, rs1580645070, rs1580645999, rs137853125, rs137853126 12692552, 18786134, 19285442, 17945526, 27604308, 21235735, 19274794, 17309654
Hypercholesterolemia Hypercholesterolemia rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034
View all (1161 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Unknown
Disease term Disease name Evidence References Source
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
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