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ALLC allantoicase [ Homo sapiens (human) ]

Gene ID: 55821, updated on 2-Nov-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
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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: 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. 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)

Genotypes

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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