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

SAR1B Gene

protein-coding   GIFtS: 61
GCID: GC05M133971

SAR1 homolog B (S. cerevisiae)

(Previous names: SAR1a gene homolog (S. cerevisiae) 2, SAR1a gene homolog...)
(Previous symbol: SARA2)
 Explore 16 diseases affiliated with
SAR1B via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SAR1B    

Aliases
for SAR1B gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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


Summaries
for SAR1B gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  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 plasmid: SAR1B 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

Proteins
for SAR1B gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y6B6

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

    SAR1B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    OriGene Purified Proteins (see all 2): SAR1B
    OriGene Protein Over-expression Lysate (see all 2): SAR1B
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    Novus Biologicals SAR1B Protein
    Novus Biologicals SAR1B Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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



    SAR1B Antibody Products: 
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    ThermoFisher Antibodies for SAR1B

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    Uscn ELISAs and CLIAs for SAR1B

    Protein Domains /
    Families
    for SAR1B gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SAR1B for domains           About GeneDecksing

    3 InterPro domains/families:
     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 families:
    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


    Function
    for SAR1B gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    Enzyme Number (IUBMB): EC 3.6.52

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SAR1B
    8/114 QIAGEN miScript miRNA Assays for microRNAs that regulate SAR1B (see all 114):
    hsa-miR-520e hsa-miR-520f hsa-miR-607 hsa-miR-3607-3p hsa-miR-631 hsa-miR-106a hsa-miR-1245 hsa-miR-3138
    SwitchGear 3'UTR luciferase reporter plasmid: SAR1B 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SAR1B (see all 7)
    OriGene shRNA RFP: SAR1B
    OriGene siRNA: SAR1B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SAR1B

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SAR1B

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SAR1B (see all 4)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): SAR1B (NM_016103)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SAR1B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAR1B 

    Cell Line
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    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAR1B

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity TAS--
    GO:0005525GTP binding IEA--
    GO:0046872metal ion binding IEA--


    SAR1B for ontologies           About GeneDecksing


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

    SAR1B for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SAR1B gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1COPII (Coat Protein 2) Mediated Vesicle Transport
    		COPII (Coat Protein 2) Mediated Vesicle Transport1.00
    		SREBP1A/1C/2:SCAP Transits to the Golgi0.50
    		ER to Golgi Transport1.00
    		Delta508-CFTR traffic / ER-to-Golgi in CF0.36
    		SREBP1A/1C/2:SCAP Binds CopII Coat Complex0.50
    		Normal wtCFTR traffic / ER-to-Golgi 0.36
    2Clathrin-dependent protein traffic
    		Clathrin-dependent protein traffic1.00
    		wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)0.37
    		Transport_Clathrin-coated vesicle cycle0.66
    3Asparagine N-linked glycosylation
    		Asparagine N-linked glycosylation1.00
    		Metabolism of proteins0.15
    		Post-translational protein modification0.44
    4Immune System
    		Immune System1.00
    		Adaptive Immune System0.59
    5Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    		Regulation of Cholesterol Biosynthesis by SREBP (SREBF)1.00
    		SREBP signalling0.46

    Pathway sources
    See GeneCards unified pathways
    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

    5/17        Reactome Pathways for SAR1B (see all 17)
        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)


    1         Kegg Pathway  (Kegg details for SAR1B):
        Protein processing in endoplasmic reticulum


    SAR1B for pathways           About GeneDecksing

    Interactions:

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

    5/57 Interacting proteins for SAR1B (Q9Y6B63) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VPS52Q8N1B43I2D: score=5 
    CDC7O003113I2D: score=4 
    SEC22BO753963I2D: score=4 
    TMED2Q153633I2D: score=4 
    CORO6Q6QEF83I2D: score=3 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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:0016044cellular membrane organization TAS--


    SAR1B for ontologies           About GeneDecksing



    Drugs & Compounds
    for SAR1B gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for SAR1B gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SAR1B
    8/114 QIAGEN miScript miRNA Assays for microRNAs that regulate SAR1B (see all 114):
    hsa-miR-520e hsa-miR-520f hsa-miR-607 hsa-miR-3607-3p hsa-miR-631 hsa-miR-106a hsa-miR-1245 hsa-miR-3138
    SwitchGear 3'UTR luciferase reporter plasmid: SAR1B 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA 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):

    AW087646 AI128791 AI760512 AW136359 AI431818 BQ224069 AI337180 AA361228 
    CK904996 CB107205 CB146566 AI073441 BG679230 BI821442 AI245509 AI394440 
    AI131182 CA454000 CR601141 AI026980 BE409516 BM977256 AW583257 BE894481 

    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

    Expression
    for SAR1B gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAATAAAACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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
    for SAR1B gene

    (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 7/30 species (see all 30)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 93(a)
    		 1 ↔ 1
    		 GL343223.1(143641-156636)
    zebrafish
    (Danio rerio)    		 Actinopterygii BC059552.12   -- 79.78(n)    BC059552.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta sar16
    		 sar1
    		 72(a)
    		 1 → many
    		 3R(18182407-18186433)
    worm
    (Caenorhabditis elegans)    		 Secernentea sar-16
    		 GTP-binding protein SAR1
    		 65(a)
    		 1 → many
    		 IV(4511886-4513314)
    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
    for SAR1B gene

    (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


    Genomic Variants
    for SAR1B gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/490 NCBI SNPs in SAR1B are shown (see all 490)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1378531261,2
    		C,pathogenic133942683(-) ACAAGG/TTTACG 4 G V mis10--------
    rs289421091,2
    		Cpathogenic133944133(-) AGATCA/GACAGA 4 N D mis1 ese30--------
    rs1219178461,2
    		Cpathogenic133956692(-) ATGCAA/GGAAAA 4 R G mis10--------
    rs668545081,2
    		C--129146379(+) GTGAG-/TTTTTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs1407940011,2
    		--133936472(+) CACCCA/CCAGAT 2 -- ds50010--------
    rs1379112871,2
    		--133936543(+) GTGTG-/TTTTTTA 2 -- ds50010--------
    rs798311001,2
    		--133936596(+) ATAGAT/GAAAAT 2 -- ds50011Minor allele frequency- G:0.01NA 120
    rs1158523431,2
    		F,--133936804(+) AATTAT/CGGTTG 2 -- ds50011Minor allele frequency- C:0.05WA 118
    rs789471671,2
    		C,F,--133936871(+) TTTTCC/TCTTCC 2 -- ut313Minor allele frequency- T:0.07NA 124
    rs1896521281,2
    		--133937311(+) CCCACA/GTTAAG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for SAR1B (133936834 - 133984961 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SAR1B
         1 CNV: 51573
    Human Gene Mutation Database (HGMD): SAR1B

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    Disorders / Diseases
    for SAR1B gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SAR1B for disorders           About GeneDecksing

    OMIM gene information: 607690   
    OMIM disorders: 246700  
    UniProtKB/Swiss-Prot: SAR1B_HUMAN, Q9Y6B6
  • Defects in SAR1B are the cause of chylomicron retention disease (CMRD) [MIM:246700]; also known as Anderson
    • disease (ANDD). CMRD is 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

    16 diseases for SAR1B:    About MalaCards
    chylomicron retention disease    anderson disease    chylomicron retention disease with marinesco-sjogren syndrome    marinesco-sjogren syndrome
    hypervitaminosis a    ancylostomiasis    sjogren's syndrome    pericarditis
    hypobetalipoproteinemia    abetalipoproteinemia    peritoneal carcinoma    liver cancer
    peritonitis    cholesterol    malaria    carcinoma

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

    Export disorders for SAR1B gene to outside databases

    Publications
    for SAR1B gene

    (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 26):
    (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. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. 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)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    External Searches for SAR1B gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
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    OMIM
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    Genome Databases showing SAR1B gene

    (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

    Other Databases showing SAR1B gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SAR1B gene

    (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

    Intellectual Property
    for SAR1B gene

    (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:
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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