Aliases for SAR1A Gene

Aliases for SAR1A Gene

  • Secretion Associated Ras Related GTPase 1A 2 3 5
  • SAR1 2 3 4
  • COPII-Associated Small GTPase 3 4
  • GTP-Binding Protein SAR1a 3 4
  • SARA1 3 4
  • Sara 2 3
  • Secretion Associated, Ras Related GTPase 1A 2
  • SAR1a Gene Homolog (S. Cerevisiae) 1 2
  • SAR1a Gene Homolog 1 (S. Cerevisiae) 2
  • SAR1 Homolog A (S. Cerevisiae) 2
  • SAR1a Gene Homolog 1 3
  • SAR1 Gene Homolog A 3
  • SAR1 Homolog A 3
  • EC 3.6.5 50
  • Masra2 3
  • SAR1A 5
  • SARA 4

External Ids for SAR1A Gene

Previous HGNC Symbols for SAR1A Gene

  • SARA1

Previous GeneCards Identifiers for SAR1A Gene

  • GC10M071580
  • GC10M071909
  • GC10M065902

Summaries for SAR1A Gene

GeneCards Summary for SAR1A Gene

SAR1A (Secretion Associated Ras Related GTPase 1A) is a Protein Coding gene. Diseases associated with SAR1A include Chylomicron Retention Disease and Vohwinkel Syndrome. Among its related pathways are Delta508-CFTR traffic / ER-to-Golgi in CF and Chks in Checkpoint Regulation. Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete signal transducer activity. An important paralog of this gene is SAR1B.

UniProtKB/Swiss-Prot Summary for SAR1A Gene

  • 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).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SAR1A Gene

Genomics for SAR1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SAR1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SAR1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SAR1A

Top Transcription factor binding sites by QIAGEN in the SAR1A gene promoter:
  • ATF
  • ATF6
  • Elk-1
  • FAC1
  • FOXO3
  • FOXO3a
  • FOXO3b
  • Pax-3
  • POU3F1
  • RORalpha2

Genomic Locations for SAR1A Gene

Latest Assembly
chr10:70,147,289-70,170,523
(GRCh38/hg38)
Size:
23,235 bases
Orientation:
Minus strand

Previous Assembly
chr10:71,907,045-71,930,270
(GRCh37/hg19 by Entrez Gene)
Size:
23,226 bases
Orientation:
Minus strand

chr10:71,907,045-71,930,279
(GRCh37/hg19 by Ensembl)
Size:
23,235 bases
Orientation:
Minus strand

Genomic View for SAR1A Gene

Genes around SAR1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAR1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAR1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAR1A Gene

Proteins for SAR1A Gene

  • Protein details for SAR1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR31-SAR1A_HUMAN
    Recommended name:
    GTP-binding protein SAR1a
    Protein Accession:
    Q9NR31
    Secondary Accessions:
    • B4DQ19

    Protein attributes for SAR1A Gene

    Size:
    198 amino acids
    Molecular mass:
    22367 Da
    Quaternary structure:
    • Interacts with B3GAT1.

    Three dimensional structures from OCA and Proteopedia for SAR1A Gene

    Alternative splice isoforms for SAR1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SAR1A Gene

Selected DME Specific Peptides for SAR1A Gene

Q9NR31:
  • GIVFLVD
  • ILGNKID
  • TFDLGGH
  • HPTSEEL

Post-translational modifications for SAR1A Gene

  • Ubiquitination at Lys27 and Lys166
  • Modification sites at PhosphoSitePlus

Domains & Families for SAR1A Gene

Gene Families for SAR1A Gene

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

Protein Domains for SAR1A Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature
  • GTP-binding protein SAR1

Suggested Antigen Peptide Sequences for SAR1A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58922, highly similar to GTP-binding protein SAR1a (B4DQ19_HUMAN)
  • Small GTP-binding protein (Q5SQT9_HUMAN)
  • SAR1 gene homolog A (S. cerevisiae) (Q5SQU0_HUMAN)
  • SARA1 protein (Q6FID4_HUMAN)
  • COPII-associated small GTPase (SAR1A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NR31

UniProtKB/Swiss-Prot:

SAR1A_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 SAR1A: view

Function for SAR1A Gene

Molecular function for SAR1A Gene

UniProtKB/Swiss-Prot 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 Numbers (IUBMB) for SAR1A Gene

Phenotypes From GWAS Catalog for SAR1A Gene

Gene Ontology (GO) - Molecular Function for SAR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IBA 21873635
GO:0005515 protein binding IPI 19181664
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with SAR1A: view
genes like me logo Genes that share phenotypes with SAR1A: view

miRNA for SAR1A Gene

miRTarBase miRNAs that target SAR1A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAR1A

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SAR1A Gene

Localization for SAR1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAR1A Gene

Endoplasmic reticulum. Golgi apparatus.

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 SAR1A gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 3
golgi apparatus 3
plasma membrane 2
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SAR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0030127 COPII vesicle coat IBA,IDA 17499046
GO:0070971 endoplasmic reticulum exit site IBA 21873635
genes like me logo Genes that share ontologies with SAR1A: view

Pathways & Interactions for SAR1A Gene

PathCards logo

SuperPathways for SAR1A Gene

SuperPathway Contained pathways
1 Delta508-CFTR traffic / ER-to-Golgi in CF
.33
.33
.33
.32
2 Legionellosis
3 Protein processing in endoplasmic reticulum
4 Chks in Checkpoint Regulation
.43
5 TGF-Beta Pathway
.60
genes like me logo Genes that share pathways with SAR1A: view

Pathways by source for SAR1A Gene

4 GeneGo (Thomson Reuters) pathways for SAR1A Gene
  • Delta508-CFTR traffic / ER-to-Golgi in CF
  • Normal wtCFTR traffic / ER-to-Golgi
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
2 Qiagen pathways for SAR1A Gene
  • SREBP Proteolysis
  • TGF-Beta Pathway
1 GeneTex pathway for SAR1A Gene

SIGNOR curated interactions for SAR1A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SAR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003400 regulation of COPII vesicle coating IBA 21873635
GO:0006886 intracellular protein transport IEA,IBA 21873635
GO:0006888 ER to Golgi vesicle-mediated transport IBA 21873635
GO:0015031 protein transport IEA --
GO:0016050 vesicle organization IBA 21873635
genes like me logo Genes that share ontologies with SAR1A: view

Drugs & Compounds for SAR1A Gene

(1) Drugs for SAR1A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with SAR1A: view

Transcripts for SAR1A Gene

mRNA/cDNA for SAR1A Gene

2 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAR1A

Alternative Splicing Database (ASD) splice patterns (SP) for SAR1A Gene

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

Relevant External Links for SAR1A Gene

GeneLoc Exon Structure for
SAR1A

Expression for SAR1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SAR1A Gene

Protein differential expression in normal tissues from HIPED for SAR1A Gene

This gene is overexpressed in Platelet (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SAR1A Gene



Protein tissue co-expression partners for SAR1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SAR1A

SOURCE GeneReport for Unigene cluster for SAR1A Gene:

Hs.499960

Evidence on tissue expression from TISSUES for SAR1A Gene

  • Skin(4.6)
  • Kidney(4.6)
  • Nervous system(4.5)
  • Liver(4.5)
  • Lung(4.5)
  • Heart(2.2)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with SAR1A: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SAR1A Gene

Orthologs for SAR1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SAR1A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SAR1A 29 30
  • 99.83 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SAR1A 30
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SAR1A 29 30
  • 95.29 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SAR1A 29
  • 94.78 (n)
Rat
(Rattus norvegicus)
Mammalia Sar1a 29
  • 93.27 (n)
Mouse
(Mus musculus)
Mammalia Sar1a 29 16 30
  • 93.1 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SAR1A 30
  • 89 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SAR1A 29 30
  • 85.19 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SAR1A 30
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sar1a 29
  • 84.18 (n)
sar1a-prov 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.25405 29
Zebrafish
(Danio rerio)
Actinopterygii sar1ab 29 30
  • 74.07 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta sar1 30
  • 70 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sar-1 30
  • 63 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAR1 29 30
  • 59.46 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B02046g 29
  • 57.12 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFL114W 29
  • 56.58 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SAR1B 29
  • 61.11 (n)
Soybean
(Glycine max)
eudicotyledons Gma.6113 29
Rice
(Oryza sativa)
Liliopsida Os01g0338000 29
  • 60.73 (n)
Os.10984 29
Bread mold
(Neurospora crassa)
Ascomycetes NCU11181 29
  • 62.22 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sar1 29
  • 61.38 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1569 29
Species where no ortholog for SAR1A was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SAR1A Gene

ENSEMBL:
Gene Tree for SAR1A (if available)
TreeFam:
Gene Tree for SAR1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SAR1A: view image
Alliance of Genome Resources:
Additional Orthologs for SAR1A

Paralogs for SAR1A Gene

(24) SIMAP similar genes for SAR1A Gene using alignment to 5 proteins:

  • SAR1A_HUMAN
  • B4DQ19_HUMAN
  • H0Y5E8_HUMAN
  • Q5SQT8_HUMAN
  • Q5SQT9_HUMAN

Pseudogenes.org Pseudogenes for SAR1A Gene

genes like me logo Genes that share paralogs with SAR1A: view

Variants for SAR1A Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SAR1A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SAR1A Gene

Variant ID Type Subtype PubMed ID
esv32737 CNV gain+loss 17666407
nsv551479 CNV loss 21841781
nsv7054 CNV insertion 18451855

Variation tolerance for SAR1A Gene

Residual Variation Intolerance Score: 53.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.18; 4.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SAR1A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAR1A
Leiden Open Variation Database (LOVD)
SAR1A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SAR1A Gene

Disorders for SAR1A Gene

MalaCards: The human disease database

(5) MalaCards diseases for SAR1A Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search SAR1A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SAR1A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SAR1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SAR1A Gene

Publications for SAR1A Gene

  1. Distinct transport and intracellular activities of two GlcAT-P isoforms. (PMID: 19181664) Kizuka Y … Oka S (The Journal of biological chemistry 2009) 3 4 22
  2. Inhibitors of COPI and COPII do not block PEX3-mediated peroxisome synthesis. (PMID: 10871277) South ST … Gould SJ (The Journal of cell biology 2000) 2 3 4
  3. Small sequence variations between two mammalian paralogs of the small GTPase SAR1 underlie functional differences in coat protein complex II assembly. (PMID: 32358066) Melville DB … Schekman R (The Journal of biological chemistry 2020) 2 3
  4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 40
  5. Fetal haemoglobin response to hydroxycarbamide treatment and sar1a promoter polymorphisms in sickle cell anaemia. (PMID: 18318767) Kumkhaek C … Rodgers GP (British journal of haematology 2008) 3 40

Products for SAR1A Gene

Sources for SAR1A Gene