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Aliases for SAR1B Gene

Aliases for SAR1B Gene

  • Secretion Associated Ras Related GTPase 1B 2 3
  • Secretion Associated, Ras Related GTPase 1B 2 3 5
  • GTP-Binding Protein B 3 4
  • SARA2 3 4
  • GTBPB 3 4
  • SAR1a Gene Homolog (S. Cerevisiae) 2 2
  • SAR1a Gene Homolog 2 (S. Cerevisiae) 2
  • SAR1 Homolog B (S. Cerevisiae) 2
  • GTP-Binding Protein Sara 3
  • SAR1a Gene Homolog 2 3
  • SAR1 Homolog B 3
  • 2310075M17Rik 3
  • EC 3.6.5 63
  • ANDD 3
  • CMRD 3
  • SARB 4

External Ids for SAR1B Gene

Previous HGNC Symbols for SAR1B Gene

  • SARA2

Previous GeneCards Identifiers for SAR1B Gene

  • GC05M133971
  • GC05M129123
  • GC05M133936

Summaries for SAR1B Gene

Entrez Gene Summary for SAR1B 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 part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]

GeneCards Summary for SAR1B Gene

SAR1B (Secretion Associated Ras Related GTPase 1B) is a Protein Coding gene. Diseases associated with SAR1B include chylomicron retention disease and hypobetalipoproteinemia. Among its related pathways are Lipoprotein metabolism and Metabolism. GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is SAR1A.

UniProtKB/Swiss-Prot for SAR1B Gene

  • Involved in transport from the endoplasmic reticulum to the Golgi apparatus. Activated by the guanine nucleotide exchange factor PREB. Involved in the selection of the protein cargo and the assembly of the COPII coat complex.

Gene Wiki entry for SAR1B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAR1B Gene

Genomics for SAR1B Gene

Regulatory Elements for SAR1B Gene

Promoters for SAR1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SAR1B on UCSC Golden Path with GeneCards custom track

Genomic Location for SAR1B Gene

Chromosome:
5
Start:
134,601,144 bp from pter
End:
134,649,271 bp from pter
Size:
48,128 bases
Orientation:
Minus strand

Genomic View for SAR1B Gene

Genes around SAR1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAR1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAR1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAR1B Gene

Proteins for SAR1B Gene

  • Protein details for SAR1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6B6-SAR1B_HUMAN
    Recommended name:
    GTP-binding protein SAR1b
    Protein Accession:
    Q9Y6B6
    Secondary Accessions:
    • D3DQA4
    • Q567T4

    Protein attributes for SAR1B Gene

    Size:
    198 amino acids
    Molecular mass:
    22410 Da
    Quaternary structure:
    • Homodimer. Binds PREB. Part of the COPII coat complex. Binds to the cytoplasmic tails of target proteins in the endoplasmic reticulum (By similarity).

neXtProt entry for SAR1B Gene

Proteomics data for SAR1B Gene at MOPED

Selected DME Specific Peptides for SAR1B Gene

Post-translational modifications for SAR1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for SAR1B

Domains & Families for SAR1B Gene

Gene Families for SAR1B Gene

Suggested Antigen Peptide Sequences for SAR1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y6B6

UniProtKB/Swiss-Prot:

SAR1B_HUMAN :
  • Belongs to the small GTPase superfamily. SAR1 family.
Family:
  • Belongs to the small GTPase superfamily. SAR1 family.
genes like me logo Genes that share domains with SAR1B: view

Function for SAR1B Gene

Molecular function for SAR1B Gene

UniProtKB/Swiss-Prot Function:
Involved in transport from the endoplasmic reticulum to the Golgi apparatus. Activated by the guanine nucleotide exchange factor PREB. Involved in the selection of the protein cargo and the assembly of the COPII coat complex.

Enzyme Numbers (IUBMB) for SAR1B Gene

genes like me logo Genes that share phenotypes with SAR1B: view

Human Phenotype Ontology for SAR1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SAR1B Gene

MGI Knock Outs for SAR1B:

Animal Model Products

miRNA for SAR1B Gene

miRTarBase miRNAs that target SAR1B

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for SAR1B Gene

Localization for SAR1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAR1B Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Golgi apparatus, Golgi stack membrane; Peripheral membrane protein. Note=Associated with the endoplasmic reticulum and Golgi stacks, in particular in the juxta-nuclear Golgi region. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SAR1B Gene COMPARTMENTS Subcellular localization image for SAR1B gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 5
golgi apparatus 4
extracellular 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SAR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with SAR1B: view

Pathways & Interactions for SAR1B Gene

genes like me logo Genes that share pathways with SAR1B: view

Gene Ontology (GO) - Biological Process for SAR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with SAR1B: view

No data available for SIGNOR curated interactions for SAR1B Gene

Drugs & Compounds for SAR1B Gene

(3) Drugs for SAR1B Gene - From: HMDB and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma Target 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with SAR1B: view

Transcripts for SAR1B Gene

Unigene Clusters for SAR1B Gene

SAR1 homolog B (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SAR1B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1:
SP2: -

Relevant External Links for SAR1B Gene

GeneLoc Exon Structure for
SAR1B
ECgene alternative splicing isoforms for
SAR1B

Expression for SAR1B Gene

mRNA expression in normal human tissues for SAR1B Gene

mRNA differential expression in normal tissues according to GTEx for SAR1B Gene

This gene is overexpressed in Muscle - Skeletal (x5.5).

Protein differential expression in normal tissues from HIPED for SAR1B Gene

This gene is overexpressed in Gallbladder (9.3) and Liver (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SAR1B Gene



SOURCE GeneReport for Unigene cluster for SAR1B Gene Hs.432984

mRNA Expression by UniProt/SwissProt for SAR1B Gene

Q9Y6B6-SAR1B_HUMAN
Tissue specificity: Expressed in many tissues including small intestine, liver, muscle and brain.
genes like me logo Genes that share expression patterns with SAR1B: view

Protein tissue co-expression partners for SAR1B Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SAR1B Gene

Orthologs for SAR1B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SAR1B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SAR1B 35
  • 95.12 (n)
  • 98.48 (a)
SAR1B 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SAR1B 35
  • 95.62 (n)
  • 98.99 (a)
SAR1B 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sar1b 35
  • 90.4 (n)
  • 98.99 (a)
Sar1b 16
Sar1b 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SAR1B 35
  • 99.66 (n)
  • 99.49 (a)
SAR1B 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sar1b 35
  • 90.4 (n)
  • 98.99 (a)
oppossum
(Monodelphis domestica)
Mammalia SAR1B 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SAR1B 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves SAR1B 35
  • 86.6 (n)
  • 97.42 (a)
SAR1B 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SAR1B 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sar1b 35
  • 77.33 (n)
  • 84.77 (a)
zebrafish
(Danio rerio)
Actinopterygii sar1b 35
  • 79.12 (n)
  • 91.92 (a)
CABZ01079045.1 36
  • 93 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9028 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004098 35
  • 63.54 (n)
  • 72.92 (a)
fruit fly
(Drosophila melanogaster)
Insecta sar1 35
  • 61.98 (n)
  • 72.4 (a)
sar1 36
  • 72 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sar-1 35
  • 62.35 (n)
  • 65.28 (a)
sar-1 36
  • 64 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAR1 36
  • 61 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G62560 35
  • 59.72 (n)
  • 62.5 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1787 35
barley
(Hordeum vulgare)
Liliopsida Hv.3508 35
rice
(Oryza sativa)
Liliopsida Os01g0254000 35
  • 57.24 (n)
  • 62.3 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.7164 35
Species with no ortholog for SAR1B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SAR1B Gene

ENSEMBL:
Gene Tree for SAR1B (if available)
TreeFam:
Gene Tree for SAR1B (if available)

Paralogs for SAR1B Gene

Paralogs for SAR1B Gene

genes like me logo Genes that share paralogs with SAR1B: view

Variants for SAR1B Gene

Sequence variations from dbSNP and Humsavar for SAR1B Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_016806 Chylomicron retention disease (CMRD)
rs28942109 Chylomicron retention disease (CMRD) 134,608,443(-) AGATC(A/G)ACAGA reference, missense
rs28942110 Chylomicron retention disease (CMRD) 134,607,010(-) TGTAG(A/T)GTGCT reference, missense
VAR_059051 Chylomicron retention disease (CMRD)
VAR_059052 Chylomicron retention disease (CMRD)

Structural Variations from Database of Genomic Variants (DGV) for SAR1B Gene

Variant ID Type Subtype PubMed ID
nsv520381 CNV Gain+Loss 19592680
nsv830491 CNV Loss 17160897
esv2667487 CNV Deletion 23128226

Variation tolerance for SAR1B Gene

Residual Variation Intolerance Score: 24.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 9.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SAR1B Gene

HapMap Linkage Disequilibrium report
SAR1B
Human Gene Mutation Database (HGMD)
SAR1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAR1B Gene

Disorders for SAR1B Gene

MalaCards: The human disease database

(3) MalaCards diseases for SAR1B Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
chylomicron retention disease
  • retinitis pigmentosa
hypobetalipoproteinemia
  • familial hypobetalipoproteinemia
hypolipoproteinemia
  • hypolipoproteinaemia
- elite association - COSMIC cancer census association via MalaCards
Search SAR1B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SAR1B_HUMAN
  • Chylomicron retention disease (CMRD) [MIM:246700]: An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. The condition is characterized by deficiency of fat-soluble vitamins, low blood cholesterol levels, and a selective absence of chylomicrons from blood. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets. {ECO:0000269 PubMed:12692552, ECO:0000269 PubMed:17309654, ECO:0000269 PubMed:19274794}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SAR1B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SAR1B
genes like me logo Genes that share disorders with SAR1B: view

No data available for Genatlas for SAR1B Gene

Publications for SAR1B Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 67
  2. Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene. (PMID: 19846172) CefalA^ A.B. … Averna M.R. (Metab. Clin. Exp. 2010) 3 23
  3. Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein. (PMID: 17945526) Charcosset M. … Lachaux A. (Mol. Genet. Metab. 2008) 3 23
  4. Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. (PMID: 18786134) Silvain M. … Samson-Bouma M.E. (Clin. Genet. 2008) 3 23
  5. Expression of Sara2 human gene in erythroid progenitors. (PMID: 15943909) Jardim D.L. … Costa F.F. (J. Biochem. Mol. Biol. 2005) 3 23

Products for SAR1B Gene

Sources for SAR1B Gene

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