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    ALLC allantoicase [ Homo sapiens (human) ]

    Gene ID: 55821, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ALLCprovided by HGNC
    Official Full Name
    allantoicaseprovided by HGNC
    Primary source
    HGNC:HGNC:17377
    See related
    Ensembl:ENSG00000151360 MIM:612396; AllianceGenome:HGNC:17377
    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
    ALC
    Summary
    Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.[supplied by OMIM, Nov 2008]
    Expression
    Restricted expression toward testis (RPKM 2.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See ALLC in Genome Data Viewer
    Location:
    2p25.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (3645819..3702671)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (3668711..3725243)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (3705790..3750261)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:3622403-3622978 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:3622979-3623555 Neighboring gene NANOG hESC enhancer GRCh37_chr2:3662665-3663169 Neighboring gene ribosomal protein S7 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:3669609-3669758 Neighboring gene collectin subfamily member 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:3675117-3675828 Neighboring gene TMSB4X pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15236 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:3699531-3700279 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:3707659-3707935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15238 Neighboring gene uncharacterized LOC105373393 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 48 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:3772545-3773071 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:3773072-3773597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:3775588-3776177 Neighboring gene doublecortin domain containing 2C Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_58308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:3828257-3828757 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:3847077-3847620 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:3847621-3848162 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_58341 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_58378 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:3917111-3917319 Neighboring gene long intergenic non-protein coding RNA 1304

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Human allantoicase gene: cDNA cloning, genomic organization and chromosome localization. Vigetti D, et al. Gene, 2000 Oct 3. PMID 11054555
    2. Genomic organization and chromosome localization of the murine and human allantoicase gene. Vigetti D, et al. Gene, 2002 May 1. PMID 12036579
    3. Genome-wide association study identifies ALLC polymorphisms correlated with FEV₁ change by corticosteroid. Park TJ, et al. Clin Chim Acta, 2014 Sep 25. PMID 24792382
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
    5. New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing. Basei FL, et al. Proteome Sci, 2015. PMID 25798074, Free PMC Article

    See all (11) citations in PubMed

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies ALLC polymorphisms correlated with FEV₁ change by corticosteroid.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    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 allantoicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in allantoin catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    probable inactive allantoicase
    Names
    allantoate amidinohydrolase
    probable allantoicase
    NP_060906.3
    XP_011508671.1
    XP_016859984.1
    XP_016859985.1
    XP_016859986.1
    XP_016859987.1
    XP_054198974.1
    XP_054198975.1
    XP_054198976.1
    XP_054198977.1
    XP_054198978.1

    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_018436.4 → NP_060906.3  probable inactive allantoicase

      See identical proteins and their annotated locations for NP_060906.3

      Status: VALIDATED

      Source sequence(s)
      AC010907, BC029652, DB054905
      Consensus CDS
      CCDS46223.1
      UniProtKB/Swiss-Prot
      B4DY77, Q53T95, Q5RL81, Q8N6M5, Q96RE6, Q9NZA7
      Related
      ENSP00000252505.3, ENST00000252505.4
      Conserved Domains (1) summary
      TIGR02961
      Location:1 → 366
      allantoicase; allantoicase

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      3645819..3702671
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004495.2 → XP_016859984.1  probable inactive allantoicase isoform X1

    2. XM_011510369.3 → XP_011508671.1  probable inactive allantoicase isoform X2

      Conserved Domains (1) summary
      pfam03561
      Location:1 → 136
      Allantoicase; Allantoicase repeat

    3. XM_017004496.3 → XP_016859985.1  probable inactive allantoicase isoform X2

      Conserved Domains (1) summary
      pfam03561
      Location:1 → 136
      Allantoicase; Allantoicase repeat

    4. XM_017004497.1 → XP_016859986.1  probable inactive allantoicase isoform X3

      Conserved Domains (1) summary
      pfam03561
      Location:67 → 228
      Allantoicase; Allantoicase repeat

    5. XM_017004498.1 → XP_016859987.1  probable inactive allantoicase isoform X4

      Conserved Domains (1) summary
      pfam03561
      Location:49 → 210
      Allantoicase; Allantoicase repeat

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      3668711..3725243
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342999.1 → XP_054198974.1  probable inactive allantoicase isoform X1

    2. XM_054343000.1 → XP_054198975.1  probable inactive allantoicase isoform X2

    3. XM_054343001.1 → XP_054198976.1  probable inactive allantoicase isoform X2

    4. XM_054343002.1 → XP_054198977.1  probable inactive allantoicase isoform X3

    5. XM_054343003.1 → XP_054198978.1  probable inactive allantoicase isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_199232.1: Suppressed sequence

      Description
      NM_199232.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N6M5.4 GenPept UniProtKB/Swiss-Prot:Q8N6M5

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