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Aliases for ASNA1 Gene

Aliases for ASNA1 Gene

  • ArsA Arsenite Transporter, ATP-Binding, Homolog 1 (Bacterial) 2 3 5
  • Transmembrane Domain Recognition Complex 40 KDa ATPase Subunit 3 4
  • TRC40 3 4
  • ArsA (Bacterial) Arsenite Transporter, ATP-Binding, Homolog 1 2
  • Transmembrane Domain Recognition Complex, 40kDa 2
  • Golgi To ER Traffic 3 Homolog (S. Cerevisiae) 2
  • Golgi To ER Traffic 3 Homolog 3
  • Arsenical Pump-Driving ATPase 4
  • Arsenite-Stimulated ATPase 4
  • ATPase ASNA1 3
  • EC 3.6.3.16 61
  • EC 3.6.-.- 4
  • HARSA-I 4
  • HASNA-I 4
  • ARSA-I 3
  • ASNA-I 3
  • ARSA1 3
  • GET3 3
  • ARSA 4

External Ids for ASNA1 Gene

Previous GeneCards Identifiers for ASNA1 Gene

  • GC19P012979
  • GC19P013071
  • GC19P012693
  • GC19P012848
  • GC19P012421

Summaries for ASNA1 Gene

Entrez Gene Summary for ASNA1 Gene

  • This gene represents the human homolog of the bacterial arsA gene, encoding the arsenite-stimulated ATPase component of the arsenite transporter responsible for resistance to arsenicals. This protein is also a central component of a transmembrane domain (TMD) recognition complex (TRC) that is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER). It recognizes and selectively binds the TMD of TA proteins in the cytosol, and delivers them to the ER for insertion. [provided by RefSeq, Oct 2011]

GeneCards Summary for ASNA1 Gene

ASNA1 (ArsA Arsenite Transporter, ATP-Binding, Homolog 1 (Bacterial)) is a Protein Coding gene. Diseases associated with ASNA1 include Emery-Dreifuss Muscular Dystrophy and Amyotrophic Lateral Sclerosis Type 14. Among its related pathways are Metabolism of proteins and Unfolded Protein Response (UPR). GO annotations related to this gene include transporter activity and arsenite transmembrane transporter activity.

UniProtKB/Swiss-Prot for ASNA1 Gene

  • ATPase required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum. Recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol. This complex then targets to the endoplasmic reticulum by membrane-bound receptors, where the tail-anchored protein is released for insertion. This process is regulated by ATP binding and hydrolysis. ATP binding drives the homodimer towards the closed dimer state, facilitating recognition of newly synthesized TA membrane proteins. ATP hydrolysis is required for insertion. Subsequently, the homodimer reverts towards the open dimer state, lowering its affinity for the membrane-bound receptor, and returning it to the cytosol to initiate a new round of targeting (By similarity). May be involved in insulin signaling.

Gene Wiki entry for ASNA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASNA1 Gene

Genomics for ASNA1 Gene

Regulatory Elements for ASNA1 Gene

Enhancers for ASNA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F012757 1.2 Ensembl ENCODE 12.5 +20.7 20722 1.3 PKNOX1 ARID4B SIN3A ZNF48 ZNF2 GLIS2 ZNF143 ZNF207 ZNF263 NFYC MAN2B1 JUNB HOOK2 ASNA1 C19orf43 TNPO2 MAST1 RNASEH2A RTBDN WDR83OS
GH19F012760 0.7 ENCODE 12.5 +23.6 23613 0.2 CTCF RAD21 ZEB1 ZNF121 ZNF366 PATZ1 ZNF143 SMC3 PRDM10 ZNF654 JUNB HOOK2 ASNA1 C19orf43 TNPO2 MAST1 RNASEH2A RTBDN WDR83OS WDR83
GH19F012733 1.2 ENCODE 0.8 -1.3 -1301 5.7 HDGF PKNOX1 ARNT WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 LOC101928464 ZNF136 ZNF563 ZNF788 ASNA1 C19orf43
GH19F012749 1 Ensembl ENCODE 0.4 +13.1 13067 1.5 KLF1 INSM2 KLF17 ZIC2 ZNF121 ZFHX2 PRDM10 NFE2L2 ZNF639 ZNF263 BEST2 ASNA1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASNA1 on UCSC Golden Path with GeneCards custom track

Promoters for ASNA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001816127 261 1601 PKNOX1 ARNT WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5

Genomic Location for ASNA1 Gene

Chromosome:
19
Start:
12,737,139 bp from pter
End:
12,748,323 bp from pter
Size:
11,185 bases
Orientation:
Plus strand

Genomic View for ASNA1 Gene

Genes around ASNA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASNA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASNA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASNA1 Gene

Proteins for ASNA1 Gene

  • Protein details for ASNA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43681-ASNA_HUMAN
    Recommended name:
    ATPase ASNA1
    Protein Accession:
    O43681
    Secondary Accessions:
    • A6NHP8
    • A8K740
    • Q53FC6
    • Q92849

    Protein attributes for ASNA1 Gene

    Size:
    348 amino acids
    Molecular mass:
    38793 Da
    Quaternary structure:
    • Homodimer (By similarity). Component of a transmembrane domain recognition complex (TRC) (By similarity). Interacts with SERP1 and SEC61B (By similarity). Interacts with WRB.
    SequenceCaution:
    • Sequence=AAC50731.1; Type=Frameshift; Positions=19; Evidence={ECO:0000305};

neXtProt entry for ASNA1 Gene

Selected DME Specific Peptides for ASNA1 Gene

O43681:
  • PTKVKGYDNL
  • FEEDNMLSMGKKMMQEAMSAFPGIDEAMSYAEVMRLVKGM
  • LLLEPYKPPS
  • KLPLLPHEVRG
  • PCKMCEARHKIQ
  • IDTHNIIVNQLVFPDPEKPC
  • EFLSLYETER
  • YETERLIQ
  • NLFAMEID
  • FDTAPTGHT
  • ISTDPAHN

Post-translational modifications for ASNA1 Gene

  • Ubiquitination at Lys 156 and Lys 317
  • Modification sites at PhosphoSitePlus

Other Protein References for ASNA1 Gene

Domains & Families for ASNA1 Gene

Suggested Antigen Peptide Sequences for ASNA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43681

UniProtKB/Swiss-Prot:

ASNA_HUMAN :
  • Belongs to the arsA ATPase family.
Family:
  • Belongs to the arsA ATPase family.
genes like me logo Genes that share domains with ASNA1: view

No data available for Gene Families for ASNA1 Gene

Function for ASNA1 Gene

Molecular function for ASNA1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.22 mM for ATP {ECO:0000269 PubMed:9712828}; Vmax=16.6 nmol/min/mg enzyme for ATP {ECO:0000269 PubMed:9712828};
UniProtKB/Swiss-Prot Function:
ATPase required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum. Recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol. This complex then targets to the endoplasmic reticulum by membrane-bound receptors, where the tail-anchored protein is released for insertion. This process is regulated by ATP binding and hydrolysis. ATP binding drives the homodimer towards the closed dimer state, facilitating recognition of newly synthesized TA membrane proteins. ATP hydrolysis is required for insertion. Subsequently, the homodimer reverts towards the open dimer state, lowering its affinity for the membrane-bound receptor, and returning it to the cytosol to initiate a new round of targeting (By similarity). May be involved in insulin signaling.

Enzyme Numbers (IUBMB) for ASNA1 Gene

Gene Ontology (GO) - Molecular Function for ASNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 9736449
GO:0005515 protein binding IPI 21516116
GO:0005524 ATP binding IEA --
GO:0015105 arsenite transmembrane transporter activity TAS 8884272
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ASNA1: view
genes like me logo Genes that share phenotypes with ASNA1: view

Animal Models for ASNA1 Gene

MGI Knock Outs for ASNA1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ASNA1

miRNA for ASNA1 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASNA1 Gene

Localization for ASNA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASNA1 Gene

Cytoplasm. Endoplasmic reticulum. Nucleus, nucleolus.

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 ASNA1 gene
Compartment Confidence
extracellular 5
nucleus 5
endoplasmic reticulum 5
cytosol 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ASNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA --
GO:0005730 nucleolus IEA,IDA --
GO:0005737 cytoplasm IEA,TAS 9736449
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with ASNA1: view

Pathways & Interactions for ASNA1 Gene

genes like me logo Genes that share pathways with ASNA1: view

Gene Ontology (GO) - Biological Process for ASNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA,TAS 9736449
GO:0015698 inorganic anion transport IEA --
GO:0036498 IRE1-mediated unfolded protein response TAS --
GO:0045048 protein insertion into ER membrane IEA --
genes like me logo Genes that share ontologies with ASNA1: view

No data available for SIGNOR curated interactions for ASNA1 Gene

Drugs & Compounds for ASNA1 Gene

(2) Drugs for ASNA1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra Target 0

(4) Additional Compounds for ASNA1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
arsenite
  • AArsenite (AsO33-)
  • Arsenic (III) oxide
  • Arsenic (III) trioxide
  • Arsenic sesquioxide
  • Arsenic trioxide
15502-74-6
Arsenic
  • Arsen
  • Arsen [german,polish]
  • Arsenic black
  • Arsenic elemental
  • Arsenowodor [polish]
7440-38-2
genes like me logo Genes that share compounds with ASNA1: view

Transcripts for ASNA1 Gene

Unigene Clusters for ASNA1 Gene

ArsA arsenite transporter, ATP-binding, homolog 1 (bacterial):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASNA1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9
SP1:
SP2:
SP3: -

Relevant External Links for ASNA1 Gene

GeneLoc Exon Structure for
ASNA1
ECgene alternative splicing isoforms for
ASNA1

Expression for ASNA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASNA1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ASNA1 Gene



Protein tissue co-expression partners for ASNA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ASNA1 Gene:

ASNA1

SOURCE GeneReport for Unigene cluster for ASNA1 Gene:

Hs.465985

mRNA Expression by UniProt/SwissProt for ASNA1 Gene:

O43681-ASNA_HUMAN
Tissue specificity: Expressed in the epithelial cells of the liver, kidney, and stomach wall, in the adrenal medulla, in the islet cells of the pancreas, in the red pulp of the spleen, and in cardiac and skeletal muscle.
genes like me logo Genes that share expression patterns with ASNA1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for ASNA1 Gene

Orthologs for ASNA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ASNA1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia -- 35
  • 100 (a)
OneToMany
-- 35
  • 94 (a)
OneToMany
ASNA1 34
  • 93.01 (n)
chimpanzee
(Pan troglodytes)
Mammalia ASNA1 34 35
  • 99.55 (n)
oppossum
(Monodelphis domestica)
Mammalia ASNA1 35
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASNA1 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ASNA1 34 35
  • 92.15 (n)
mouse
(Mus musculus)
Mammalia Asna1 34 16 35
  • 90.52 (n)
rat
(Rattus norvegicus)
Mammalia Asna1 34
  • 90.13 (n)
chicken
(Gallus gallus)
Aves ASNA1 35
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASNA1 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asna1 34
  • 80.65 (n)
Str.11846 34
zebrafish
(Danio rerio)
Actinopterygii asna1 34 35
  • 82.68 (n)
zgc56540 34
fruit fly
(Drosophila melanogaster)
Insecta CG1598 36 34 35
  • 70.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta ASNA_ANOGA 34
  • 68.82 (n)
worm
(Caenorhabditis elegans)
Secernentea asna-1 34 35
  • 56.35 (n)
ZK637.5 36
  • 54 (a)
asna-2 35
  • 32 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR285W 34
  • 55.83 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GET3 34 35 37
  • 51.96 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E01497g 34
  • 51.76 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G01910 34
  • 56.86 (n)
soybean
(Glycine max)
eudicotyledons Gma.10970 34
rice
(Oryza sativa)
Liliopsida Os09g0521500 34
  • 57.71 (n)
Os.15713 34
corn
(Zea mays)
Liliopsida Zm.5442 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 63 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06717 34
  • 59.82 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes get3 34
  • 54.52 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8413 34
Species where no ortholog for ASNA1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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 ASNA1 Gene

ENSEMBL:
Gene Tree for ASNA1 (if available)
TreeFam:
Gene Tree for ASNA1 (if available)

Paralogs for ASNA1 Gene

Pseudogenes.org Pseudogenes for ASNA1 Gene

genes like me logo Genes that share paralogs with ASNA1: view

No data available for Paralogs for ASNA1 Gene

Variants for ASNA1 Gene

Sequence variations from dbSNP and Humsavar for ASNA1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs864622036 Uncertain significance 12,738,573(+) AGACC(C/G)AGCAC reference, missense
rs10426921 -- 12,746,699(+) cttag(C/G)tatgg intron-variant
rs111831188 -- 12,742,381(+) CGCCC(A/G)CCACC intron-variant
rs112106879 -- 12,740,139(+) GCACT(G/T)TGGGA intron-variant
rs112222445 -- 12,747,176(+) TGAGC(C/T)CTCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ASNA1 Gene

Variant ID Type Subtype PubMed ID
nsv953977 CNV deletion 24416366
nsv1160586 CNV duplication 26073780
esv3643712 CNV loss 21293372
dgv138n111 CNV deletion 26073780

Variation tolerance for ASNA1 Gene

Residual Variation Intolerance Score: 29.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASNA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASNA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASNA1 Gene

Disorders for ASNA1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ASNA1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ASNA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ASNA1

Genetic Association Database (GAD)
ASNA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASNA1
genes like me logo Genes that share disorders with ASNA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASNA1 Gene

Publications for ASNA1 Gene

  1. Isolation of the ATP-binding human homolog of the arsA component of the bacterial arsenite transporter. (PMID: 8884272) Kurdi-Haidar B. … Howell S.B. (Genomics 1996) 2 3 4 22 64
  2. Identification of a targeting factor for posttranslational membrane protein insertion into the ER. (PMID: 17382883) Stefanovic S. … Hegde R.S. (Cell 2007) 2 3 4 64
  3. Biochemical characterization of the human arsenite-stimulated ATPase (hASNA-I). (PMID: 9712828) Kurdi-Haidar B. … Howell S.B. (J. Biol. Chem. 1998) 3 4 22 64
  4. WRB is the receptor for TRC40/Asna1-mediated insertion of tail- anchored proteins into the ER membrane. (PMID: 21444755) Vilardi F. … Dobberstein B. (J. Cell Sci. 2011) 3 4 64
  5. Increased sensitivity to platinating agents and arsenite in human ovarian cancer by downregulation of ASNA1. (PMID: 19724867) Hemmingsson O. … Naredi P. (Oncol. Rep. 2009) 3 22 64

Products for ASNA1 Gene

Sources for ASNA1 Gene

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