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

SAR1A Gene

protein-coding   GIFtS: 63
GCID: GC10M071909

SAR1 Homolog A (S. Cerevisiae)

(Previous names: SAR1a gene homolog (S. cerevisiae) 1, SAR1a gene homolog...)
(Previous symbol: SARA1)
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(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 A (S. Cerevisiae)1 2     GTP-Binding Protein SAR1a2
SARA11 2 3 5     masra22
SAR12 3     SAR1 Gene Homolog A2
COPII-Associated Small GTPase2 3     SAR1a Gene Homolog 12
SAR1a Gene Homolog (S. Cerevisiae) 11     SARA3
SAR1a Gene Homolog 1 (S. Cerevisiae)1     EC 3.6.58
Sara2     

External Ids:    HGNC: 105341   Entrez Gene: 566812   Ensembl: ENSG000000793327   OMIM: 6076915   UniProtKB: Q9NR313   

Export aliases for SAR1A gene to outside databases

Previous GC identifers: GC10M071580 GC10M065902


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

GeneCards Summary for SAR1A Gene: 
SAR1A (SAR1 homolog A (S. cerevisiae)) is a protein-coding gene. Diseases associated with SAR1A include platelet storage pool deficiency, and hyperinsulinism, and among its related super-pathways are Clathrin-dependent protein traffic and COPII (Coat Protein 2) Mediated Vesicle Transport. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is SAR1B.

UniProtKB/Swiss-Prot: SAR1A_HUMAN, Q9NR31
Function: Involved in transport from the endoplasmic reticulum to the Golgi apparatus (By similarity). Required to
maintain SEC16A localization at discrete locations on the ER membrane perhaps by preventing its dissociation.
SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining endoplasmic
reticulum exit sites (ERES)




(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_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SAR1A gene promoter:
         Elk-1   POU3F1   FOXO3   FOXO3b   RORalpha2   Pax-3   FAC1   FOXO3a   ATF   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSAR1A promoter sequence
   Search SABiosciences Chromatin IP Primers for SAR1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SAR1A


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

Entrez Gene cytogenetic band: 10q22.1   Ensembl cytogenetic band:  10q22.1   HGNC cytogenetic band: 10q22.1

SAR1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SAR1A gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M071909:  view genomic region     (about GC identifiers)

Start:
71,909,960 bp from pter      End:
71,930,285 bp from pter
Size:
20,326 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: SAR1A_HUMAN, Q9NR31 (See protein sequence)
Recommended Name: GTP-binding protein SAR1a  
Size: 198 amino acids; 22367 Da
Subcellular location: Endoplasmic reticulum (By similarity). Golgi apparatus (By similarity)
1 PDB 3D structure from and Proteopedia for SAR1A:
2GAO (3D)    

Explore the universe of human proteins at neXtProt for SAR1A: NX_Q9NR31

Explore proteomics data for SAR1A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NR31

  • 4 DME Specific Peptides for SAR1A (Q9NR31)
     HPTSEEL  GIVFLVD  ILGNKID  TFDLGGH 

    SAR1A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SAR1A Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001136120.1  NP_064535.1  

    ENSEMBL proteins: 
     ENSP00000362335   ENSP00000362338   ENSP00000362339   ENSP00000398165   ENSP00000362333  
     ENSP00000362336   ENSP00000399698   ENSP00000437979  

    Human Recombinant Protein Products for SAR1A: 
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    Novus Biologicals SAR1A Proteins
    Novus Biologicals SAR1A Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for SAR1A
    Cloud-Clone Corp. Proteins for SAR1A 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ----
    GO:0005737cytoplasm NAS--
    GO:0005783endoplasmic reticulum IDA--
    GO:0005794Golgi apparatus IEA--

    SAR1A for ontologies           About GeneDecksing



    SAR1A Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for SAR1A 

    Assay Products for SAR1A: 
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    Cloud-Clone Corp. CLIAs for SAR1A


    (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 Q9NR31

    ProtoNet protein and cluster: Q9NR31

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


    UniProtKB/Swiss-Prot: SAR1A_HUMAN, Q9NR31
    Similarity: Belongs to the small GTPase superfamily. SAR1 family


    SAR1A 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: SAR1A_HUMAN, Q9NR31
    Function: Involved in transport from the endoplasmic reticulum to the Golgi apparatus (By similarity). Required to
    maintain SEC16A localization at discrete locations on the ER membrane perhaps by preventing its dissociation.
    SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining endoplasmic
    reticulum exit sites (ERES)

         Enzyme Number (IUBMB): EC 3.6.52

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity NAS--
    GO:0004871signal transducer activity ----
    GO:0005525GTP binding IEA--
    GO:0019001guanyl nucleotide binding ----
    GO:0031683G-protein beta/gamma-subunit complex binding ----
         
    SAR1A for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for SAR1A:
     Decreased viability with pacli  Increased Salmonella enterica   Increased Salmonella enterica   Increased Salmonella enterica  
     Increased Salmonella-containin 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SAR1A 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SAR1A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SAR1A 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SAR1A 

    miRNA
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    hsa-miR-323-3p hsa-miR-1197 hsa-miR-200a hsa-miR-1258 hsa-miR-128 hsa-miR-486-3p hsa-miR-766 hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidSAR1A 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAR1A


    (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 SAR1A About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Clathrin-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
    2COPII (Coat Protein 2) Mediated Vesicle Transport
    Delta508-CFTR traffic / ER-to-Golgi in CF0.36
    Normal wtCFTR traffic / ER-to-Golgi 0.36
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    SREBP signalling0.37
    4Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum
    5Legionellosis
    Legionellosis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SAR1A
        Clathrin-dependent protein traffic


    4 GeneGo (Thomson Reuters) Pathways for SAR1A
        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 SAR1A
        SREBP signalling


    2         Kegg Pathways  (Kegg details for SAR1A):
        Protein processing in endoplasmic reticulum
    Legionellosis


    SAR1A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SAR1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/12 Interacting proteins for SAR1A (Q9NR313 ENSP000003623354) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542533, ENSP000002447694I2D: score=1 STRING: ENSP00000244769
    DCTN1Q142033I2D: score=1 
    PREBENSP000002606434STRING: ENSP00000260643
    SEC13ENSP000003121224STRING: ENSP00000312122
    SEC31AENSP000003473294STRING: ENSP00000347329
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process NAS--
    GO:0006886intracellular protein transport IEA--
    GO:0006888ER to Golgi vesicle-mediated transport NAS--
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007264small GTPase mediated signal transduction ----

    SAR1A 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 SAR1A

    1 HMDB Compound for SAR1A    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    Search CenterWatch for drugs/clinical trials and news about SAR1A

    (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 SAR1A gene (2 alternative transcripts): 
    NM_001142648.1  NM_020150.4  

    Unigene Cluster for SAR1A:

    SAR1 homolog A (S. cerevisiae)
    Hs.499960  [show with all ESTs]
    Unigene Representative Sequence: NM_001142648
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373238 ENST00000373241(uc010qji.2 uc010qjj.2) ENST00000373242(uc010qjh.2)
    ENST00000452767 ENST00000373236 ENST00000477464 ENST00000373239 ENST00000431664
    ENST00000458634

    miRNA
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    8/63 QIAGEN miScript miRNA Assays for microRNAs that regulate SAR1A (see all 63):
    hsa-miR-323-3p hsa-miR-1197 hsa-miR-200a hsa-miR-1258 hsa-miR-128 hsa-miR-486-3p hsa-miR-766 hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidSAR1A 3' UTR sequence
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    Additional mRNA sequence: 

    AF086166.1 AF087897.1 AF217959.1 AF261717.1 AF274026.1 AF318066.1 AK025857.1 AK074257.1 
    AK298591.1 AK312469.1 AL136724.1 AY008268.1 BC003658.2 CR533492.1 

    16 DOTS entries:

    DT.95259145  DT.97862695  DT.87016923  DT.121261144  DT.92433004  DT.95188941  DT.100042097  DT.430391 
    DT.121261116  DT.100792928  DT.121261035  DT.91733074  DT.95100927  DT.95112223  DT.101958209  DT.91716170 

    24/356 AceView cDNA sequences (see all 356):

    AW872907 BU072468 BQ008447 AI086819 BM556837 BM974100 AA938282 AI624380 
    BQ941426 N75852 AW128933 AA290688 BQ102359 AI201809 AI868032 BM670758 
    BP353283 BQ086264 AA972543 AI697619 BM453963 AA301377 BM991990 AI086814 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SAR1A    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7
    SP1:                          -                                 
    SP2:                          -                                 
    SP3:                                                            


    ECgene alternative splicing isoforms for SAR1A

    (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

    SAR1A expression in normal human tissues (normalized intensities)      SAR1A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTATGACT
    SAR1A Expression
    About this image


    SAR1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/37 selected tissues (see all 37) fully expand
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             blood outgrowth endothelial cell   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   

    See SAR1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SAR1A

    SOURCE GeneReport for Unigene cluster: Hs.499960
        SABiosciences Custom PCR Arrays for SAR1A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAR1A

    (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 SAR1A gene from 10/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sar1a1 , 5 SAR1 gene homolog A (S. cerevisiae)1, 5 93.1(n)1
    99.49(a)1
      10 (32.26 cM)5
    202241  NM_009120.21  NP_033146.11 
     616803215 
    chicken
    (Gallus gallus)
    Aves SAR1A1 SAR1 homolog A (S. cerevisiae) 85.19(n)
    97.47(a)
      423711  XM_421589.3  XP_421589.2 
    lizard
    (Anolis carolinensis)
    Reptilia SAR1A6
    Uncharacterized protein
    94(a)
    1 ↔ 1
    3(51292499-51296439)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.254052 Xenopus laevis transcribed sequence with strong similarity more 83.17(n)    CF549146.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sar1b1 SAR1 homolog B (S. cerevisiae) 76.43(n)
    91.92(a)
      554177  NM_001024377.1  NP_001019548.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sar11 CG7073-PA 64.58(n)
    71.35(a)
      42615  NM_170001.2  NP_732718.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sar-11 Protein SAR-1 62.35(n)
    64.25(a)
      177217  NM_068181.2  NP_500582.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SAR11 Sar1p 59.46(n)
    61.62(a)
      855883   NP_015106.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SAR1B1 GTP-binding protein SAR1B 61.11(n)
    60.42(a)
      842086  NM_104512.2  NP_176029.1 
    rice
    (Oryza sativa)
    Liliopsida Os.109842 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.44(n)    AK103351.1 


    ENSEMBL Gene Tree for SAR1A (if available)
    TreeFam Gene Tree for SAR1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SAR1A gene
    SAR1B2  
    18/24 SIMAP similar genes for SAR1A using alignment to 5 protein entries:     SAR1A_HUMAN (see all proteins) (see all similar genes):
    SARA1    SAR1B    DKFZp434B2017    ARL8B    ARL7    ARL8A
    ARL2    ARL4C    ARL6    ARF3    ARL4A    ARF6
    ARL11    ARF1    ARL13B    ARF5    ARL14    TRIM23

    SAR1A for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SAR1A
    PGOHUM00000250794 PGOHUM00000260971


    (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

    10/499 SNPs in SAR1A are shown (see all 499)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1392422381,2
    C--65906741(+) TTTTT-/TCTTTTT 2 -- int10--------
    rs1911984991,2
    --71909590(+) ACAGCA/GTGAGC 2 -- int10--------
    rs1480647831,2
    --71909620(+) TAATTC/TTGTGT 2 -- int10--------
    rs1417659041,2
    C--71909750(+) AGCATA/GTTCCA 2 -- int10--------
    rs741392781,2
    C,F--71909898(+) ATAAAC/TGGCAT 2 -- int18Minor allele frequency- T:0.28WA NA CSA EA 368
    rs125730971,2
    C,F,H--71909903(+) CGGCAT/CTGTTC 2 -- int122Minor allele frequency- C:0.38NA NS EA WA CSA 1676
    rs781608281,2
    C,F--71909934(+) ACCAAT/AGAAAA 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs2001546931,2
    C--71909936(+) CAATG-/AAAAAA 2 -- int10--------
    rs752944981,2
    C,F--71909957(+) ATAGCG/ATATTT 2 -- int12Minor allele frequency- A:0.12WA EA 238
    rs1833590251,2
    --71910011(+) CTTTCA/GTAAAT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for SAR1A (71909960 - 71930285 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SAR1A:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv7054CNV Insertion18451855
    esv32737CNV Gain+Loss17666407

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SAR1A

    (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: 607691    OMIM disorders: --

    3 diseases for SAR1A:    About MalaCards
    platelet storage pool deficiency    hyperinsulinism    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for SAR1A:
    Platelet storage pool deficiency

    SAR1A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): SAR1A
    Human Genome Epidemiology (HuGE) Navigator: SAR1A (4 documents)

    Export disorders for SAR1A 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 SAR1A gene, integrated from 9 sources (see all 42):
    (articles sorted by number of sources associating them with SAR1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Inhibitors of COPI and COPII do not block PEX3-mediated peroxisome synthesis. (PubMed id 10871277)1, 2, 3 South S.T.... Gould S.J. (2000)
    2. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    3. Fetal haemoglobin response to hydroxycarbamide treatment and sar1a promoter polymorphisms in sickle cell anaemia. (PubMed id 18318767)1, 4 Kumkhaek C....Rodgers G.P. (2008)
    4. Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease. (PubMed id 17373700)1, 4 Morgan A.R....Williams J. (2007)
    5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
    6. 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)
    7. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    8. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PubMed id 23349634)1 Cloutier P.... Coulombe B. (2013)
    9. Altering membrane topology with Sar1 does not impair s pindle assembly in Xenopus egg extracts. (PubMed id 22605651)1 Riggs B....Heald R. (2012)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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: 56681 HGNC: 10534 AceView: SARA1 Ensembl:ENSG00000079332 euGenes: HUgn56681
    ECgene: SAR1A Kegg: 56681 H-InvDB: SAR1A

    (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 SAR1A 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 SAR1A gene:
    Search GeneIP for patents involving SAR1A

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



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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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