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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SAR1B Gene

protein-coding   GIFtS: 64
GCID: GC05M133971

SAR1 Homolog B (S. Cerevisiae)

(Previous names: SAR1a gene homolog (S. cerevisiae) 2, SAR1a gene homolog...)
(Previous symbol: SARA2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
SAR1 Homolog B (S. Cerevisiae)1 2     SAR1a Gene Homolog 2 (S. Cerevisiae)1
SARA21 2 3 5     2310075M17Rik2
GTBPB2 3     GTP-Binding Protein SAR1b2
GTP-Binding Protein B2 3     GTP-Binding Protein Sara2
ANDD2 5     SAR1a Gene Homolog 22
CMRD2 5     SARB3
SAR1a Gene Homolog (S. Cerevisiae) 21     EC 3.6.58

External Ids:    HGNC: 105351   Entrez Gene: 511282   Ensembl: ENSG000001527007   OMIM: 6076905   UniProtKB: Q9Y6B63   

Export aliases for SAR1B gene to outside databases

Previous GC identifer: GC05M129123


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (SAR1 homolog B (S. cerevisiae)) is a protein-coding gene. Diseases associated with SAR1B include chylomicron retention disease, and peritoneal carcinoma, and among its related super-pathways are COPII (Coat Protein 2) Mediated Vesicle Transport and Clathrin-dependent protein traffic. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is SAR1A.

UniProtKB/Swiss-Prot: SAR1B_HUMAN, Q9Y6B6
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

Gene Wiki entry for SAR1B Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_034772.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SAR1B gene promoter:
         TBP   RFX1   USF1   Bach2   FOXL1   AREB6   CREB   USF-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSAR1B promoter sequence
   Search SABiosciences Chromatin IP Primers for SAR1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SAR1B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31.1   Ensembl cytogenetic band:  5q31.1   HGNC cytogenetic band: 5q31.1

SAR1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SAR1B gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M133971:  view genomic region     (about GC identifiers)

Start:
133,936,834 bp from pter      End:
133,984,961 bp from pter
Size:
48,128 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SAR1B_HUMAN, Q9Y6B6 (See protein sequence)
Recommended Name: GTP-binding protein SAR1b  
Size: 198 amino acids; 22410 Da
Subunit: Homodimer. Binds PREB. Part of the COPII coat complex. Binds to the cytoplasmic tails of target proteins
in the endoplasmic reticulum (By similarity)
Subcellular location: Endoplasmic reticulum membrane; Peripheral membrane protein (By similarity). Golgi
apparatus, Golgi stack membrane; Peripheral membrane protein (By similarity). Note=Associated with the
endoplasmic reticulum and Golgi stacks, in particular in the juxta-nuclear Golgi region (By similarity)
Secondary accessions: D3DQA4 Q567T4

Explore the universe of human proteins at neXtProt for SAR1B: NX_Q9Y6B6

Explore proteomics data for SAR1B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y6B6

  • 4 DME Specific Peptides for SAR1B (Q9Y6B6)
     HPTSEEL  GIVFLVD  ILGNKID  TFDLGGH 

    SAR1B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SAR1B Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001028675.1  NP_057187.1  

    ENSEMBL proteins: 
     ENSP00000385432   ENSP00000425339   ENSP00000426335   ENSP00000404997   ENSP00000424673  
     ENSP00000423197   ENSP00000425367   ENSP00000425466   ENSP00000423005  
    Reactome Protein details: Q9Y6B6
    Human Recombinant Protein Products for SAR1B: 
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    ProSpec Recombinant Protein for SAR1B
    Cloud-Clone Corp. Proteins for SAR1B 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005794Golgi apparatus ----
    GO:0005829cytosol TAS--

    SAR1B for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR006687 Small_GTPase_SAR1
     IPR006689 Small_GTPase_ARF/SAR
     IPR005225 Small_GTP-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y6B6

    ProtoNet protein and cluster: Q9Y6B6

    2 Blocks protein domains:
    IPB001806 Transforming protein P21 RAS signature
    IPB006687 GTP-binding protein SAR1


    UniProtKB/Swiss-Prot: SAR1B_HUMAN, Q9Y6B6
    Similarity: Belongs to the small GTPase superfamily. SAR1 family


    SAR1B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SAR1B_HUMAN, Q9Y6B6
    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 Number (IUBMB): EC 3.6.52

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity TAS--
    GO:0004871signal transducer activity ----
    GO:0005525GTP binding IEA--
    GO:0019001guanyl nucleotide binding ----
    GO:0031683G-protein beta/gamma-subunit complex binding ----
         
    SAR1B for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sar1b):
     homeostasis/metabolism  mortality/aging 

    SAR1B for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SAR1B 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SAR1B 
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    SwitchGear 3'UTR luciferase reporter plasmidSAR1B 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SAR1B About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1COPII (Coat Protein 2) Mediated Vesicle Transport
    COPII (Coat Protein 2) Mediated Vesicle Transport0.36
    ER to Golgi Transport0.36
    Delta508-CFTR traffic / ER-to-Golgi in CF0.36
    Antigen Presentation: Folding, assembly and peptide loading of class I MHC0.31
    Normal wtCFTR traffic / ER-to-Golgi 0.36
    2Clathrin-dependent protein traffic
    Clathrin-dependent protein traffic0.66
    wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)0.37
    Transport Clathrin-coated vesicle cycle0.66
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.67
    SREBP signalling0.37
    4Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation0.77
    Post-translational protein modification0.44
    WNT ligand biogenesis and trafficking0.77
    Metabolism of proteins0.35
    Signaling by Wnt0.62
    5Immune System
    Immune System0.56
    Adaptive Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SAR1B
        Clathrin-dependent protein traffic


    4 GeneGo (Thomson Reuters) Pathways for SAR1B
        wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Delta508-CFTR traffic / ER-to-Golgi in CF
    Normal wtCFTR traffic / ER-to-Golgi
    Transport Clathrin-coated vesicle cycle

    1 BioSystems Pathway for SAR1B
        SREBP signalling


    5/18        Reactome Pathways for SAR1B (see all 18)
        Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    Membrane Trafficking
    Metabolism
    COPII (Coat Protein 2) Mediated Vesicle Transport
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)


    2         Kegg Pathways  (Kegg details for SAR1B):
        Protein processing in endoplasmic reticulum
    Legionellosis


    SAR1B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SAR1B

    5/62 Interacting proteins for SAR1B (Q9Y6B63) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206286Q8N1B43I2D: score=5 
    ENSG00000224455Q8N1B43I2D: score=5 
    ENSG00000225590Q8N1B43I2D: score=5 
    ENSG00000228425Q8N1B43I2D: score=5 
    ENSG00000236014Q8N1B43I2D: score=5 
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0006184GTP catabolic process TAS--
    GO:0006886intracellular protein transport IEA--
    GO:0006888ER to Golgi vesicle-mediated transport TAS--
    GO:0007186G-protein coupled receptor signaling pathway ----

    SAR1B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SAR1B

    3 HMDB Compounds for SAR1B    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    1 DrugBank Compound for SAR1B    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Guanosine-5'-Diphosphate-- 146-91-8target--10592235

    Search CenterWatch for drugs/clinical trials and news about SAR1B

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SAR1B gene (2 alternative transcripts): 
    NM_001033503.2  NM_016103.3  

    Unigene Cluster for SAR1B:

    SAR1 homolog B (S. cerevisiae)
    Hs.432984  [show with all ESTs]
    Unigene Representative Sequence: NM_001033503
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000402673(uc003kzq.3 uc003kzr.3) ENST00000507419 ENST00000508363
    ENST00000502539 ENST00000439578 ENST00000509937 ENST00000509730 ENST00000503318
    ENST00000505758 ENST00000502286 ENST00000504242
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    Additional mRNA sequence: 

    AF087850.1 AF092130.1 AK056821.1 AK223452.1 AL512710.1 BC002847.2 BC093034.1 

    19 DOTS entries:

    DT.445888  DT.215987  DT.211344  DT.101983014  DT.100024367  DT.120835306  DT.311607  DT.91638410 
    DT.92003751  DT.70105124  DT.100819990  DT.92435553  DT.100684871  DT.120835293  DT.120835327  DT.91949941 
    DT.92435546  DT.100714357  DT.92421076 

    24/233 AceView cDNA sequences (see all 233):

    BM977256 BE856242 AA292730 AI245509 AI073441 CA446391 BE894481 BQ772359 
    AI131182 BG260295 AI431818 CR618571 BQ224069 AI026980 AI760512 CA454000 
    BX504340 CB146566 NM_016103 AW087646 AW136359 BI089805 CB143242 CR601141 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SAR1B    About this scheme

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


    ECgene alternative splicing isoforms for SAR1B

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SAR1B expression in normal human tissues (normalized intensities)      SAR1B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATAAAACA
    SAR1B Expression
    About this image


    SAR1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/28 selected tissues (see all 28) fully expand
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, pre-menopause ; glandular cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex

    See SAR1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SAR1B

    SOURCE GeneReport for Unigene cluster: Hs.432984

    UniProtKB/Swiss-Prot: SAR1B_HUMAN, Q9Y6B6
    Tissue specificity: Expressed in many tissues including small intestine, liver, muscle and brain

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SAR1B gene from 9/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sar1b1 , 5 SAR1 gene homolog B (S. cerevisiae)1, 5 90.4(n)1
    98.99(a)1
      11 (31.41 cM)5
    663971  NM_025535.21  NP_079811.11 
     517636875 
    chicken
    (Gallus gallus)
    Aves SAR1B1 SAR1 homolog B (S. cerevisiae) 86.6(n)
    97.42(a)
      416314  NM_001030621.1  NP_001025792.1 
    lizard
    (Anolis carolinensis)
    Reptilia SAR1B6
    Uncharacterized protein
    93(a)
    1 ↔ 1
    GL343223.1(143641-170017)
    zebrafish
    (Danio rerio)
    Actinopterygii BC059552.12   -- 79.78(n)    BC059552.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sar16
    sar1
    73(a)
    1 → many
    3R(18182407-18186433)
    worm
    (Caenorhabditis elegans)
    Secernentea sar-16
    GTP-binding protein SAR1
    64(a)
    1 → many
    IV(4511893-4513321)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SAR16
    GTPase, GTP-binding protein of the ARF family, com...
    61(a)
    1 → many
    XVI(138698-139409)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G625601 GTP-binding protein SAR1 59.72(n)
    62.5(a)
      825430  NM_116121.6  NP_191815.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g02540001 hypothetical protein 57.24(n)
    62.3(a)
      4327708  NM_001049150.1  NP_001042615.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SAR1B gene
    SAR1A2  
    18/26 SIMAP similar genes for SAR1B using alignment to 5 protein entries:     SAR1B_HUMAN (see all proteins) (see all similar genes):
    DKFZp434B2017    SAR1A    SARA1    ARL8A    ARF6    ARL6
    ARF3    ARL2    ARF1    ARL8B    ARL4C    ARF4
    ARF5    ARL14    ARL4A    ARL11    ARL13B    ARL17A

    SAR1B for paralogs           About GeneDecksing


    5/8 Pseudogenes.org Pseudogenes for SAR1B (see all 8)
    PGOHUM00000251280 PGOHUM00000250171 PGOHUM00000251030 PGOHUM00000251150 PGOHUM00000250096


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/594 SNPs in SAR1B are shown (see all 594)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0590524
    Chylomicron retention disease (CMRD)4--see VAR_0590522 D G mis40--------
    VAR_0168064
    Chylomicron retention disease (CMRD)4--see VAR_0168062 G R mis40--------
    VAR_0590514
    Chylomicron retention disease (CMRD)4--see VAR_0590512 G D mis40--------
    rs289421101,2,4
    CChylomicron retention disease (CMRD)4 pathogenic1134220042(-) TGTAGA/TGTGCT 4 R S mis10--------
    rs289421091,2,4
    CChylomicron retention disease (CMRD)4 pathogenic1134221473(-) AGATCA/GACAGA 4 N D mis1 ese30--------
    rs1378531261,2
    Cpathogenic1134220025(-) ACAAGG/TTTACG 4 G V mis10--------
    rs1219178461,2
    Cpathogenic1134234032(-) ATGCAA/GGAAAA 4 R G mis10--------
    rs339160131,2
    C--133936516(+) AAGCG-/GT/GTG
    T
    /GTGTGT
    TGTGT
    4 -- ds5001 cds10--------
    rs2017885221,2
    C--133939488(+) AAAAA-/ACAAAA 2 -- ut310--------
    rs1126836701,2
    F--133943264(+) TCGAGC/ACCAGA 2 -- int11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for SAR1B (133936834 - 133984961 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SAR1B:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2667487CNV Deletion23128226
    nsv830491CNV Loss17160897
    nsv520381CNV Gain+Loss19592680


    Human Gene Mutation Database (HGMD): SAR1B
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SAR1B
    DNA2.0 Custom Variant and Variant Library Synthesis for SAR1B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607690   
    OMIM disorders: 246700  
    UniProtKB/Swiss-Prot: SAR1B_HUMAN, Q9Y6B6
  • 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 10 diseases for SAR1B:    About MalaCards
    chylomicron retention disease    peritoneal carcinoma    ancylostomiasis    hypervitaminosis a
    hypobetalipoproteinemia    pericarditis    abetalipoproteinemia    sjogren's syndrome
    peritonitis    gastric cancer

    2 diseases from the University of Copenhagen DISEASES database for SAR1B:
    Abetalipoproteinemia     Hypobetalipoproteinemia

    SAR1B for disorders           About GeneDecksing


    Export disorders for SAR1B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SAR1B gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with SAR1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. (PubMed id 12692552)1, 2 Jones B....Shoulders C.C. (2003)
    3. Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. (PubMed id 18786134)1, 9 Silvain M....Samson-Bouma M.E. (2008)
    4. Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein. (PubMed id 17945526)1, 9 Charcosset M....Lachaux A. (2008)
    5. Expression of Sara2 human gene in erythroid progenitors. (PubMed id 15943909)1, 9 Jardim D.L....Costa F.F. (2005)
    6. Variable phenotypic expression of chylomicron retenti on disease in a kindred carrying a mutation of the Sara2 gene. (PubMed id 19846172)1, 9 CefalA^ A.B....Averna M.R. (2010)
    7. Modulation of membrane rigidity by the human vesicle t rafficking proteins Sar1A and Sar1B. (PubMed id 22974979)1 Loftus A.F....Parthasarathy R. (2012)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Expression of Sar1b enhances chylomicron assembly and key components of the coat protein complex II system driving vesicle budding. (PubMed id 21836065)1 Levy E....Sane A.T. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51128 HGNC: 10535 AceView: SARA2 Ensembl:ENSG00000152700 euGenes: HUgn51128
    ECgene: SAR1B Kegg: 51128 H-InvDB: SAR1B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SAR1B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SAR1B gene:
    Search GeneIP for patents involving SAR1B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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