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Aliases for SAR1B Gene

Aliases for SAR1B Gene

  • Secretion Associated Ras Related GTPase 1B 2 3 5
  • GTP-Binding Protein B 3 4
  • SARA2 3 4
  • GTBPB 3 4
  • Secretion Associated, Ras Related GTPase 1B 2
  • SAR1a Gene Homolog (S. Cerevisiae) 2 2
  • SAR1a Gene Homolog 2 (S. Cerevisiae) 2
  • SAR1 Homolog B (S. Cerevisiae) 2
  • GTP-Binding Protein SAR1b 3
  • GTP-Binding Protein Sara 3
  • SAR1a Gene Homolog 2 3
  • SAR1 Homolog B 3
  • 2310075M17Rik 3
  • EC 3.6.5 56
  • 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 Vaginal Cancer. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (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

Additional gene information for SAR1B Gene

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

Genomics for SAR1B Gene

GeneHancer (GH) Regulatory Elements for SAR1B Gene

Promoters and enhancers for SAR1B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I134646 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 555.5 +0.3 255 4.4 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SAR1B GC05M134647 SEC24A TXNDC15 DDX46 C5orf66
GH05I134630 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.4 +17.1 17071 2.5 ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D SAR1B DDX46 JADE2 C5orf24 C5orf66 TXNDC15 SEC24A SKP1 C5orf66-AS1 CAMLG
GH05I134590 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.3 +57.2 57233 2.7 PKNOX1 ARID4B SIN3A RFX5 TCF12 SCRT2 FOS CREM RUNX3 RXRA TXNDC15 RNU6-1311P SAR1B ENSG00000248559 DDX46 GC05M134578 GC05M134635
GH05I134113 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.7 +518.7 518745 34.1 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A YBX1 ZNF2 IRF4 TCF7 VDAC1 SKP1 CDKL3 MTND4LP30 JADE2 CDKN2AIPNL SAR1B UBE2B PPP2CA
GH05I134607 Enhancer 1 ENCODE dbSUPER 11.9 +39.9 39922 4.4 HDAC1 FOXA2 BATF IRF4 RAD21 ZBTB40 YY1 ZNF766 ATF7 RUNX3 CAMLG RNU6-1311P SAR1B JADE2 ENSG00000248559 DDX46 GC05M134635 GC05M134578
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SAR1B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SAR1B gene promoter:

Genomic Locations for SAR1B Gene

Genomic Locations for SAR1B Gene
chr5:134,601,144-134,649,271
(GRCh38/hg38)
Size:
48,128 bases
Orientation:
Minus strand
chr5:133,936,834-133,984,961
(GRCh37/hg19)

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

Selected DME Specific Peptides for SAR1B Gene

Q9Y6B6:
  • GIVFLVD
  • ILGNKID
  • TFDLGGH
  • HPTSEEL

Post-translational modifications for SAR1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for SAR1B Gene

Gene Families for SAR1B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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

Gene Ontology (GO) - Molecular Function for SAR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity TAS --
GO:0005525 GTP binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SAR1B: view
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

Clone Products

  • Addgene plasmids for SAR1B

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SAR1B gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
golgi apparatus 4
extracellular 2
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SAR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol 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:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0015031 protein transport IEA --
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: DrugBank and HMDB

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:

Clone Products

  • Addgene plasmids for SAR1B

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SAR1B Gene



Protein tissue co-expression partners for SAR1B Gene

NURSA nuclear receptor signaling pathways regulating expression of SAR1B Gene:

SAR1B

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.

Evidence on tissue expression from TISSUES for SAR1B Gene

  • Liver(4.7)
  • Nervous system(4.1)
  • Heart(2.6)
  • Intestine(2.5)
  • Muscle(2.5)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SAR1B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
Thorax:
  • esophagus
  • heart
  • thymus
Abdomen:
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with SAR1B: view

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
chimpanzee
(Pan troglodytes)
Mammalia SAR1B 33 34
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia SAR1B 33 34
  • 95.62 (n)
cow
(Bos Taurus)
Mammalia SAR1B 34 33
  • 95.12 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sar1b 33 16 34
  • 90.4 (n)
rat
(Rattus norvegicus)
Mammalia Sar1b 33
  • 90.4 (n)
oppossum
(Monodelphis domestica)
Mammalia SAR1B 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SAR1B 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves SAR1B 33 34
  • 86.6 (n)
lizard
(Anolis carolinensis)
Reptilia SAR1B 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sar1b 33
  • 77.33 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01079045.1 34
  • 93 (a)
OneToOne
sar1b 33
  • 79.12 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9028 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004098 33
  • 63.54 (n)
fruit fly
(Drosophila melanogaster)
Insecta sar1 33 34
  • 61.98 (n)
worm
(Caenorhabditis elegans)
Secernentea sar-1 33 34
  • 62.35 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAR1 34
  • 61 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G62560 33
  • 59.72 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1787 33
rice
(Oryza sativa)
Liliopsida Os01g0254000 33
  • 57.24 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.3508 33
wheat
(Triticum aestivum)
Liliopsida Ta.7164 33
Species where no ortholog for SAR1B was found in the sources mined by GeneCards:
  • 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

Variants for SAR1B Gene

Sequence variations from dbSNP and Humsavar for SAR1B Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs121917846 pathogenic, Chylomicron retention disease, Chylomicron retention disease (CMRD) [MIM:246700] 134,621,002(-) C/T coding_sequence_variant, missense_variant
rs137853125 pathogenic, Chylomicron retention disease 134,608,488(-) C/A coding_sequence_variant, stop_gained
rs137853126 pathogenic, Chylomicron retention disease 134,606,993(-) C/A coding_sequence_variant, missense_variant
rs28942109 pathogenic, Chylomicron retention disease, Chylomicron retention disease (CMRD) [MIM:246700] 134,608,443(-) C/T coding_sequence_variant, missense_variant
rs28942110 pathogenic, Chylomicron retention disease, Chylomicron retention disease (CMRD) [MIM:246700] 134,607,010(-) A/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2667487 CNV deletion 23128226
esv3606848 CNV loss 21293372
esv3606849 CNV loss 21293372
nsv520381 CNV gain+loss 19592680
nsv830491 CNV loss 17160897

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)

Additional Variant Information for SAR1B Gene

Human Gene Mutation Database (HGMD)
SAR1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAR1B

SNP Genotyping and Copy Number Assay Products

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

Disorders for SAR1B Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
chylomicron retention disease
  • crd
vaginal cancer
  • malignant neoplasm of vagina
hypolipoproteinemia
  • hypolipoproteinaemia
abetalipoproteinemia
  • abl
- 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.

Additional Disease Information for 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. Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene. (PMID: 19846172) Cefalù AB … Averna MR (Metabolism: clinical and experimental 2010) 3 22 58
  2. 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 (Molecular genetics and metabolism 2008) 3 22 58
  3. 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 ME (Clinical genetics 2008) 3 22 58
  4. Expression of Sara2 human gene in erythroid progenitors. (PMID: 15943909) Jardim DL … Costa FF (Journal of biochemistry and molecular biology 2005) 3 22 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for SAR1B Gene

  • Addgene plasmids for SAR1B

Sources for SAR1B Gene

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