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    ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) [ Homo sapiens (human) ]

    Gene ID: 84680, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ACCSprovided by HGNC
    Official Full Name
    1-aminocyclopropane-1-carboxylate synthase homolog (inactive)provided by HGNC
    Primary source
    HGNC:HGNC:23989
    See related
    Ensembl:ENSG00000110455 MIM:608405; AllianceGenome:HGNC:23989
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACS; PHACS
    Summary
    Enables identical protein binding activity. Predicted to be involved in amino acid metabolic process. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 11.2), gall bladder (RPKM 7.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACCS in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (44066270..44084237)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (44221451..44239584)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (44087820..44105787)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43949635-43950136 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:43955407-43955585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43964814-43965643 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43965644-43966472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43968482-43968982 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:43977126-43977352 Neighboring gene 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) like Neighboring gene chromosome 11 open reading frame 96 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44003904-44004404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44004405-44004905 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44026425-44027286 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:44028815-44029314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:44035825-44036324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4649 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4651 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4652 Neighboring gene exostosin glycosyltransferase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44199715-44200215 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:44218806-44220005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44283363-44283862 Neighboring gene VISTA enhancer hs2090 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:44299108-44299425 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44307156-44308129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44308130-44309102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44331667-44332595 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44325021-44325566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44324475-44325020 Neighboring gene ALX homeobox 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The human cDNA for a homologue of the plant enzyme 1-aminocyclopropane-1-carboxylate synthase encodes a protein lacking that activity. Koch KA, et al. Gene, 2001 Jul 11. PMID 11470512
    2. A Large-scale genetic association study of esophageal adenocarcinoma risk. Liu CY, et al. Carcinogenesis, 2010 Jul. PMID 20453000, Free PMC Article
    3. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article
    4. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. Yang X, et al. Cell, 2016 Feb 11. PMID 26871637, Free PMC Article
    5. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: A Large-scale genetic association study of esophageal adenocarcinoma risk.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables 1-aminocyclopropane-1-carboxylate synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables pyridoxal phosphate binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables transaminase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in amino acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    1-aminocyclopropane-1-carboxylate synthase-like protein 1
    Names
    ACC synthase-like protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001127219.2 → NP_001120691.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1

      See identical proteins and their annotated locations for NP_001120691.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a different splice site in its 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC134775, BC020197, DA196370
      Consensus CDS
      CCDS7907.1
      UniProtKB/Swiss-Prot
      B4E219, Q8WUL4, Q96LX5, Q96QU6
      UniProtKB/TrEMBL
      A0A0S2Z5S5, A0A0S2Z622
      Conserved Domains (2) summary
      cd00609
      Location:99 → 476
      AAT_like; Aspartate aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). Pyridoxal phosphate combines with an alpha-amino acid to form a compound called a Schiff base or aldimine ...
      PLN02450
      Location:53 → 499
      PLN02450; 1-aminocyclopropane-1-carboxylate synthase

    2. NM_032592.4 → NP_115981.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1

      See identical proteins and their annotated locations for NP_115981.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC134775, BC020197, DA406116, DC390076
      Consensus CDS
      CCDS7907.1
      UniProtKB/Swiss-Prot
      B4E219, Q8WUL4, Q96LX5, Q96QU6
      UniProtKB/TrEMBL
      A0A0S2Z5S5, A0A0S2Z622
      Related
      ENSP00000263776.8, ENST00000263776.9
      Conserved Domains (2) summary
      cd00609
      Location:99 → 476
      AAT_like; Aspartate aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). Pyridoxal phosphate combines with an alpha-amino acid to form a compound called a Schiff base or aldimine ...
      PLN02450
      Location:53 → 499
      PLN02450; 1-aminocyclopropane-1-carboxylate synthase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      44066270..44084237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005253170.4 → XP_005253227.2  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X1

      Conserved Domains (1) summary
      PLN02450
      Location:154 → 600
      PLN02450; 1-aminocyclopropane-1-carboxylate synthase

    2. XM_011520406.3 → XP_011518708.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X2

      Conserved Domains (1) summary
      cd00609
      Location:200 → 520
      AAT_like; Aspartate aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). Pyridoxal phosphate combines with an alpha-amino acid to form a compound called a Schiff base or aldimine ...

    3. XM_024448718.2 → XP_024304486.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z5Z8
      Conserved Domains (1) summary
      PLN02450
      Location:53 → 417
      PLN02450; 1-aminocyclopropane-1-carboxylate synthase

    4. XM_024448719.2 → XP_024304487.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z5Z8
      Conserved Domains (1) summary
      PLN02450
      Location:53 → 417
      PLN02450; 1-aminocyclopropane-1-carboxylate synthase

    5. XM_047427717.1 → XP_047283673.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X6

    6. XM_047427719.1 → XP_047283675.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X8

    7. XM_017018421.2 → XP_016873910.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X8

    8. XM_011520407.1 → XP_011518709.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X4

      Conserved Domains (1) summary
      cd00609
      Location:6 → 355
      AAT_like; Aspartate aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). Pyridoxal phosphate combines with an alpha-amino acid to form a compound called a Schiff base or aldimine ...

    9. XM_005253172.2 → XP_005253229.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X5

      Conserved Domains (1) summary
      cd00609
      Location:9 → 346
      AAT_like; Aspartate aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). Pyridoxal phosphate combines with an alpha-amino acid to form a compound called a Schiff base or aldimine ...

    10. XM_047427718.1 → XP_047283674.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X7

    11. XM_006718348.3 → XP_006718411.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X7

      See identical proteins and their annotated locations for XP_006718411.1

      Conserved Domains (1) summary
      cl27741
      Location:45 → 317
      Aminotran_1_2; Aminotransferase class I and II

    RNA

    1. XR_007062513.1 RNA Sequence

    2. XR_007062514.1 RNA Sequence

    3. XR_001748005.2 RNA Sequence

    4. XR_001748008.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      44221451..44239584
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370206.1 → XP_054226181.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X1

    2. XM_054370207.1 → XP_054226182.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X2

    3. XM_054370212.1 → XP_054226187.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X6

    4. XM_054370215.1 → XP_054226190.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X8

    5. XM_054370216.1 → XP_054226191.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X8

    6. XM_054370208.1 → XP_054226183.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X3

    7. XM_054370209.1 → XP_054226184.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X3

    8. XM_054370210.1 → XP_054226185.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X4

    9. XM_054370211.1 → XP_054226186.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X5

    10. XM_054370213.1 → XP_054226188.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X7

    11. XM_054370214.1 → XP_054226189.1  1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform X7

    RNA

    1. XR_008488470.1 RNA Sequence

    2. XR_008488471.1 RNA Sequence

    3. XR_008488472.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96QU6.1 GenPept UniProtKB/Swiss-Prot:Q96QU6

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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