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

    Gene ID: 390110, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ACCSLprovided by HGNC
    Official Full Name
    1-aminocyclopropane-1-carboxylate synthase homolog (inactive) likeprovided by HGNC
    Primary source
    HGNC:HGNC:34391
    See related
    Ensembl:ENSG00000205126 AllianceGenome:HGNC:34391
    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
    Summary
    Predicted to enable transaminase activity. Predicted to be involved in amino acid metabolic process. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See ACCSL 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 (43921068..44059977)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (44076427..44215307)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (44069531..44081527)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene alkB homolog 3, alpha-ketoglutarate dependent dioxygenase Neighboring gene SEC14 like 1 pseudogene 1 Neighboring gene ALKBH3 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:43941776-43942975 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 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 4648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4650 Neighboring gene 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) 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

    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. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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
    enables pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2
    Names
    1-aminocyclopropane-1-carboxylate synthase (inactive)-like
    1-aminocyclopropane-1-carboxylate synthase homolog(non-functional)-like
    1-aminocyclopropane-1-carboxylate synthase-like protein 2
    ACC synthase-like protein 2

    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_001031854.2 → NP_001027025.2  probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001027025.2

      Status: VALIDATED

      Source sequence(s)
      AB231732, AB231733, AB231734, AC134775, DW009984
      Consensus CDS
      CCDS41636.1
      UniProtKB/Swiss-Prot
      Q4AC99
      Related
      ENSP00000368109.1, ENST00000378832.1
      Conserved Domains (2) summary
      cd00609
      Location:171 → 546
      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 ...
      PLN02607
      Location:150 → 561
      PLN02607; 1-aminocyclopropane-1-carboxylate synthase

    2. NM_001363113.1 → NP_001350042.1  probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC134775
      Conserved Domains (1) summary
      cl27741
      Location:17 → 380
      Aminotran_1_2; Aminotransferase class I and II

    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
      43921068..44059977
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426927.1 → XP_047282883.1  probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      44076427..44215307
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368742.1 → XP_054224717.1  probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4AC99.3 GenPept UniProtKB/Swiss-Prot:Q4AC99

    Gene LinkOut

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

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