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Aliases for ACCS Gene

Aliases for ACCS Gene

  • 1-Aminocyclopropane-1-Carboxylate Synthase Homolog (Inactive) 2 3 5
  • ACC Synthase-Like Protein 1 3 4
  • PHACS 3 4
  • 1-Aminocyclopropane-1-Carboxylate Synthase-Like Protein (Non-Functional) Isoform 1 3
  • 1-Aminocyclopropane-1-Carboxylate Synthase-Like Protein (Non-Functional) Isoform 2 3
  • 1-Aminocyclopropane-1-Carboxylate Synthase-Like Protein (Non-Functional) Isoform 4 3
  • 1-Aminocyclopropane-1-Carboxylate Synthase Homolog (Arabidopsis)(Non-Functional) 2
  • 1-Aminocyclopropane-1-Carboxylate Synthase-Like Protein 1 3
  • ACS 3

External Ids for ACCS Gene

Previous GeneCards Identifiers for ACCS Gene

  • GC11P043796

Summaries for ACCS Gene

GeneCards Summary for ACCS Gene

ACCS (1-Aminocyclopropane-1-Carboxylate Synthase Homolog (Inactive)) is a Protein Coding gene. Diseases associated with ACCS include Neonatal Anemia. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and 1-aminocyclopropane-1-carboxylate synthase activity. An important paralog of this gene is ACCSL.

UniProtKB/Swiss-Prot for ACCS Gene

  • Does not catalyze the synthesis of 1-aminocyclopropane-1-carboxylate but is capable of catalyzing the deamination of L-vinylglycine.

Additional gene information for ACCS Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACCS Gene

Genomics for ACCS Gene

GeneHancer (GH) Regulatory Elements for ACCS Gene

Promoters and enhancers for ACCS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J044065 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 725.6 +0.5 483 2.2 HDGF PKNOX1 SIN3A ZNF2 IRF4 YY1 POLR2B CBX5 E2F8 ZNF207 ACCS EXT2 SEC14L1P1 ALKBH3 TTC17 C11orf96 ALKBH3-AS1 ENSG00000255165 GC11P043987
GH11J044095 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 29.4 +30.2 30190 2.1 ZFP64 ARID4B SIN3A ZNF48 GLIS2 ZNF207 ZNF143 ATF7 SP3 MXD4 EXT2 ACCS ALKBH3 GC11P043987 GC11P044248
GH11J043311 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.6 -753.4 -753386 2.4 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B API5 SEC14L1P1 TTC17 ALKBH3 ENSG00000254907 EXT2 LOC105376644 ENSG00000255165 RN7SKP287 ACCS
GH11J043941 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 13.9 -122.3 -122338 4.9 ATF1 SIN3A ZNF48 YY1 GLIS2 ZNF143 FOS RUNX3 RXRA REST C11orf96 SEC14L1P1 ALKBH3 EXT2 ENSG00000254907 TTC17 ACCS ALKBH3-AS1 ENSG00000254409 LOC105376644
GH11J043357 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.1 -706.5 -706509 3 HDGF PKNOX1 ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B ZNF766 E2F8 TTC17 ENSG00000254907 SEC14L1P1 ALKBH3 ACCS EXT2 API5 ENSG00000255340
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACCS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACCS gene promoter:
  • STAT3
  • AML1a
  • AhR
  • Arnt
  • Elk-1

Genomic Locations for ACCS Gene

Genomic Locations for ACCS Gene
chr11:44,065,925-44,084,237
(GRCh38/hg38)
Size:
18,313 bases
Orientation:
Plus strand
chr11:44,087,475-44,105,772
(GRCh37/hg19)
Size:
18,298 bases
Orientation:
Plus strand

Genomic View for ACCS Gene

Genes around ACCS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ACCS Gene

Proteins for ACCS Gene

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

    Protein Symbol:
    Q96QU6-1A1L1_HUMAN
    Recommended name:
    1-aminocyclopropane-1-carboxylate synthase-like protein 1
    Protein Accession:
    Q96QU6
    Secondary Accessions:
    • B4E219
    • Q8WUL4
    • Q96LX5

    Protein attributes for ACCS Gene

    Size:
    501 amino acids
    Molecular mass:
    57324 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ACCS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACCS Gene

Post-translational modifications for ACCS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ACCS Gene

Domains & Families for ACCS Gene

Gene Families for ACCS Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q96QU6

UniProtKB/Swiss-Prot:

1A1L1_HUMAN :
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with ACCS: view

Function for ACCS Gene

Molecular function for ACCS Gene

UniProtKB/Swiss-Prot Function:
Does not catalyze the synthesis of 1-aminocyclopropane-1-carboxylate but is capable of catalyzing the deamination of L-vinylglycine.

Phenotypes From GWAS Catalog for ACCS Gene

Gene Ontology (GO) - Molecular Function for ACCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0016847 NOT 1-aminocyclopropane-1-carboxylate synthase activity IDA 11470512
GO:0030170 pyridoxal phosphate binding NAS 11470512
GO:0042802 identical protein binding IPI 16189514
GO:0042803 protein homodimerization activity NAS 11470512
genes like me logo Genes that share ontologies with ACCS: view
genes like me logo Genes that share phenotypes with ACCS: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ACCS Gene

Localization for ACCS Gene

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 ACCS gene
Compartment Confidence
cytosol 3
nucleus 2
golgi apparatus 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ACCS Gene

Pathways & Interactions for ACCS Gene

No Data Available

Gene Ontology (GO) - Biological Process for ACCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009058 biosynthetic process IEA --
genes like me logo Genes that share ontologies with ACCS: view

No data available for Pathways by source and SIGNOR curated interactions for ACCS Gene

Drugs & Compounds for ACCS Gene

(5) Drugs for ACCS Gene - From: DrugBank, ClinicalTrials, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vinylglycine Experimental Pharma Target 0
Pharmaceutical Solutions Pharma 9000
Cola Nutra 2056

(7) Additional Compounds for ACCS Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ACCS: view

Transcripts for ACCS Gene

Unigene Clusters for ACCS Gene

1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional):
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c
SP1: - - - -
SP2: - - -
SP3: - -
SP4: -
SP5:
SP6: - -
SP7: - - -
SP8:

Relevant External Links for ACCS Gene

GeneLoc Exon Structure for
ACCS
ECgene alternative splicing isoforms for
ACCS

Expression for ACCS Gene

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

Protein differential expression in normal tissues from HIPED for ACCS Gene

This gene is overexpressed in Adipocyte (42.5), Skin (20.3), and CD4 Tcells (6.2).

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



Protein tissue co-expression partners for ACCS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACCS Gene:

ACCS

SOURCE GeneReport for Unigene cluster for ACCS Gene:

Hs.126706

Evidence on tissue expression from TISSUES for ACCS Gene

  • Kidney(3.2)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with ACCS: view

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 ACCS Gene

Orthologs for ACCS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACCS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACCS 34 33
  • 99.27 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACCS 34 33
  • 88.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACCS 33
  • 86.89 (n)
ACS 34
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Accs 33
  • 85.96 (n)
mouse
(Mus musculus)
Mammalia Accs 16 34 33
  • 84.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACCS 34
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACCS 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACCS 33
  • 67.02 (n)
-- 34
  • 56 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 58 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia accs 33
  • 66.13 (n)
Str.4277 33
zebrafish
(Danio rerio)
Actinopterygii accs 34 33
  • 60.7 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T04F3.1 34
  • 4 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ACS9 33
  • 45.9 (n)
rice
(Oryza sativa)
Liliopsida Os03g0727600 33
  • 47.53 (n)
Species where no ortholog for ACCS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACCS Gene

ENSEMBL:
Gene Tree for ACCS (if available)
TreeFam:
Gene Tree for ACCS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACCS: view image

Paralogs for ACCS Gene

Paralogs for ACCS Gene

(1) SIMAP similar genes for ACCS Gene using alignment to 4 proteins:

  • 1A1L1_HUMAN
  • B4E219_HUMAN
  • E9PRT9_HUMAN
  • E9PS61_HUMAN
genes like me logo Genes that share paralogs with ACCS: view

Variants for ACCS Gene

Sequence variations from dbSNP and Humsavar for ACCS Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs35514614 A breast cancer sample 44,077,852(+) G/A 3_prime_UTR_variant, 5_prime_UTR_variant, coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
VAR_038686 A breast cancer sample p.Ser393Leu
rs1000157573 -- 44,079,179(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000340742 -- 44,082,413(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000341679 -- 44,075,848(+) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
esv995967 CNV insertion 20482838
nsv1043523 CNV gain 25217958
nsv523327 CNV gain 19592680
nsv832139 CNV loss 17160897

Variation tolerance for ACCS Gene

Residual Variation Intolerance Score: 83.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.92; 93.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACCS Gene

Human Gene Mutation Database (HGMD)
ACCS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACCS

SNP Genotyping and Copy Number Assay Products

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

Disorders for ACCS Gene

MalaCards: The human disease database

(1) MalaCards diseases for ACCS Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
neonatal anemia
  • anemia neonatal
- elite association - COSMIC cancer census association via MalaCards
Search ACCS in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACCS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACCS: view

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

Publications for ACCS Gene

  1. The human cDNA for a homologue of the plant enzyme 1-aminocyclopropane-1-carboxylate synthase encodes a protein lacking that activity. (PMID: 11470512) Koch KA … Kirsch JF (Gene 2001) 2 3 4 22 58
  2. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 58

Products for ACCS Gene

Sources for ACCS Gene

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