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Aliases for ALLC Gene

Aliases for ALLC Gene

  • Allantoicase 2 3 5
  • Allantoate Amidinohydrolase 3 4
  • Probable Allantoicase 3
  • EC 3.5.3.4 4
  • ALC 3

External Ids for ALLC Gene

Previous GeneCards Identifiers for ALLC Gene

  • GC02P003183
  • GC02P003348
  • GC02P003270
  • GC02P003199
  • GC02P003683

Summaries for ALLC Gene

Entrez Gene Summary for ALLC Gene

  • 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]

GeneCards Summary for ALLC Gene

ALLC (Allantoicase) is a Protein Coding gene. Diseases associated with ALLC include Asymmetric Motor Neuropathy and Patterned Macular Dystrophy. Among its related pathways are Pyrimidine metabolism (KEGG) and Metabolism. Gene Ontology (GO) annotations related to this gene include allantoicase activity.

UniProtKB/Swiss-Prot for ALLC Gene

  • The function of this enzyme is unclear as allantoicase activity is not known to exist in mammals.

Additional gene information for ALLC Gene

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

Genomics for ALLC Gene

GeneHancer (GH) Regulatory Elements for ALLC Gene

Promoters and enhancers for ALLC 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
GH02J003655 Enhancer 1 ENCODE dbSUPER 650.7 -1.2 -1153 2.2 HDAC1 FOXA2 ARID4B THRB ZNF48 ZNF614 THAP11 NFKBIZ HMG20B RXRA ALLC ADI1 GC02P003653
GH02J003659 Promoter 0.5 EPDnew 650.7 +0.0 6 0.1 ALLC GC02P003653 GC02M003688
GH02J003625 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.1 -31.4 -31431 1.9 SOX13 CTCF TFAP4 ZFP64 RAD21 RARA NR2F6 SOX5 RXRA FOXA3 PIR38137 COLEC11 ENSG00000237370 ALLC ADI1 GC02P003645
GH02J003620 Enhancer 1 ENCODE dbSUPER 10.7 -37.0 -37004 0.8 FOXA2 MLX RARA CREM SP5 PPARG KAT8 NFIL3 MIER3 SMARCA4 COLEC11 RPS7 ALLC PIR38137 TMSB4XP2
GH02J003628 Enhancer 0.6 dbSUPER 11.1 -29.3 -29252 0.4 CTCF USF1 L3MBTL2 TEAD1 MAX ARID4B CEBPG RAD21 THRB RBPJ ENSG00000237370 COLEC11 ALLC ADI1 ENSG00000235078 PIR38137 GC02P003645
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALLC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALLC gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1

Genomic Locations for ALLC Gene

Genomic Locations for ALLC Gene
chr2:3,658,184-3,702,671
(GRCh38/hg38)
Size:
44,488 bases
Orientation:
Plus strand
chr2:3,705,785-3,750,261
(GRCh37/hg19)
Size:
44,477 bases
Orientation:
Plus strand

Genomic View for ALLC Gene

Genes around ALLC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ALLC Gene

Proteins for ALLC Gene

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

    Protein Symbol:
    Q8N6M5-ALLC_HUMAN
    Recommended name:
    Probable allantoicase
    Protein Accession:
    Q8N6M5
    Secondary Accessions:
    • B4DY77
    • Q53T95
    • Q5RL81
    • Q96RE6
    • Q9NZA7

    Protein attributes for ALLC Gene

    Size:
    391 amino acids
    Molecular mass:
    43559 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ALLC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALLC Gene

Post-translational modifications for ALLC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALLC Gene

No data available for DME Specific Peptides for ALLC Gene

Domains & Families for ALLC Gene

Gene Families for ALLC Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ALLC Gene

Suggested Antigen Peptide Sequences for ALLC Gene

Graphical View of Domain Structure for InterPro Entry

Q8N6M5

UniProtKB/Swiss-Prot:

ALLC_HUMAN :
  • Belongs to the allantoicase family.
Family:
  • Belongs to the allantoicase family.
genes like me logo Genes that share domains with ALLC: view

Function for ALLC Gene

Molecular function for ALLC Gene

UniProtKB/Swiss-Prot Function:
The function of this enzyme is unclear as allantoicase activity is not known to exist in mammals.
UniProtKB/Swiss-Prot CatalyticActivity:
Allantoate + H(2)O = (S)-ureidoglycolate + urea.

Enzyme Numbers (IUBMB) for ALLC Gene

Phenotypes From GWAS Catalog for ALLC Gene

Gene Ontology (GO) - Molecular Function for ALLC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004037 allantoicase activity IEA --
genes like me logo Genes that share ontologies with ALLC: view
genes like me logo Genes that share phenotypes with ALLC: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALLC

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ALLC Gene

Localization for ALLC 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 ALLC gene
Compartment Confidence
cytoskeleton 3
cytosol 3
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for ALLC Gene

Pathways & Interactions for ALLC Gene

genes like me logo Genes that share pathways with ALLC: view

Pathways by source for ALLC Gene

2 KEGG pathways for ALLC Gene

Gene Ontology (GO) - Biological Process for ALLC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000256 allantoin catabolic process IEA --
genes like me logo Genes that share ontologies with ALLC: view

No data available for SIGNOR curated interactions for ALLC Gene

Drugs & Compounds for ALLC Gene

(4) Drugs for ALLC Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Urea Approved, Investigational Pharma 0
Water Approved Pharma 0
Diureido-Acetate Experimental Pharma Target 0

(2) Additional Compounds for ALLC Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-Ureidoglycolic acid
  • (-)-Ureidoglycolate
  • (S)-Ureidoglycolate
  • (-)-Ureidoglycolic acid
  • (S)-[(Aminocarbonyl)amino]hydroxy-acetic acid
  • S-(-)-Ureidoglycolic acid
7424-03-5
Allantoic acid
  • Bis[(aminocarbonyl)amino]acetic acid
  • Diureidoacetic acid
  • Bis[(aminocarbonyl)amino]acetate
  • Allantoate
  • Diureidoacetate
99-16-1
genes like me logo Genes that share compounds with ALLC: view

Transcripts for ALLC Gene

mRNA/cDNA for ALLC Gene

Unigene Clusters for ALLC Gene

Allantoicase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALLC

Clone Products

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

No ASD Table

Relevant External Links for ALLC Gene

GeneLoc Exon Structure for
ALLC
ECgene alternative splicing isoforms for
ALLC

Expression for ALLC Gene

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

mRNA differential expression in normal tissues according to GTEx for ALLC Gene

This gene is overexpressed in Testis (x27.4) and Nerve - Tibial (x8.6).

Protein differential expression in normal tissues from HIPED for ALLC Gene

This gene is overexpressed in Platelet (55.8).

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



Protein tissue co-expression partners for ALLC Gene

NURSA nuclear receptor signaling pathways regulating expression of ALLC Gene:

ALLC

SOURCE GeneReport for Unigene cluster for ALLC Gene:

Hs.97899

Evidence on tissue expression from TISSUES for ALLC Gene

  • Nervous system(4.5)
  • Spleen(4)
  • Intestine(2.1)
  • Blood(2)
genes like me logo Genes that share expression patterns with ALLC: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALLC Gene

Orthologs for ALLC Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ALLC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALLC 34 33
  • 99.06 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ALLC 34 33
  • 84.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ALLC 34 33
  • 83.5 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Allc 33
  • 81.28 (n)
mouse
(Mus musculus)
Mammalia Allc 16 34 33
  • 80.17 (n)
oppossum
(Monodelphis domestica)
Mammalia ALLC 34
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALLC 34
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALLC 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia allc 33
  • 64.11 (n)
LOC394447 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68581 33
zebrafish
(Danio rerio)
Actinopterygii allc 34 33
  • 60.93 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5701 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004501 33
  • 49.81 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B04422g 33
  • 46.92 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER162C 33
  • 46.17 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DAL2 36 34 33
  • 46.16 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1F7.09c 33
  • 48.5 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01816 33
  • 45.95 (n)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.14186 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14186 33
Species where no ortholog for ALLC was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALLC Gene

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

Paralogs for ALLC Gene

No data available for Paralogs for ALLC Gene

Variants for ALLC Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ALLC Gene

ALLC_HUMAN-Q8N6M5
Product of a polymorphic gene which also produces a longer 410-residue protein due to a polymorphism which affects Met-1, resulting in a longer protein starting at an upstream Met.

Sequence variations from dbSNP and Humsavar for ALLC Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs387907075 pathogenic, Carnevale syndrome 3,643,807(+) T/C upstream_transcript_variant
rs387907076 pathogenic, Carnevale syndrome 3,643,912(+) G/A upstream_transcript_variant
rs1000152971 -- 3,686,248(+) G/A intron_variant
rs1000173483 -- 3,674,291(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000206276 -- 3,674,039(+) G/A genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
nsv828164 CNV loss 20364138
nsv818922 CNV gain 17921354
nsv580825 CNV gain 21841781
nsv580822 CNV gain 21841781
nsv523573 CNV loss 19592680
nsv517058 CNV loss 19592680
nsv498908 CNV loss 21111241
nsv468961 CNV gain 19166990
nsv2575 CNV deletion 18451855
nsv2574 CNV insertion 18451855
nsv1144888 CNV deletion 24896259
nsv1013223 CNV gain 25217958
esv3589665 CNV loss 21293372
esv3589663 CNV loss 21293372
esv3583623 CNV loss 25503493
esv3583622 CNV loss 25503493
esv3551722 CNV deletion 23714750
esv3360936 CNV insertion 20981092
esv3321672 CNV insertion 20981092
esv3309382 CNV mobile element insertion 20981092
esv3307408 CNV mobile element insertion 20981092
esv32895 CNV loss 17666407
esv29025 CNV loss 19812545
esv27648 CNV loss 19812545
esv2763276 CNV gain+loss 21179565
esv2760637 CNV loss 21179565
esv2719527 CNV deletion 23290073
esv2719526 CNV deletion 23290073
esv2719525 CNV deletion 23290073
esv2660703 CNV deletion 23128226
esv2656614 CNV deletion 23128226
esv2428176 CNV deletion 19546169
dgv6666n54 CNV loss 21841781
dgv6665n54 CNV loss 21841781
dgv6664n54 CNV loss 21841781
dgv3702n100 CNV gain 25217958

Variation tolerance for ALLC Gene

Residual Variation Intolerance Score: 95.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.72; 95.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALLC Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALLC

SNP Genotyping and Copy Number Assay Products

Disorders for ALLC Gene

MalaCards: The human disease database

(8) MalaCards diseases for ALLC Gene - From: DISEASES

Disorder Aliases PubMed IDs
asymmetric motor neuropathy
macular dystrophy, patterned, 3
  • mdpt3
patterned macular dystrophy
  • patterned dystrophy of retinal pigment epithelium
neonatal candidiasis
  • neonatal candida infection
balanoposthitis
- elite association - COSMIC cancer census association via MalaCards
Search ALLC in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ALLC

genes like me logo Genes that share disorders with ALLC: view

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

Publications for ALLC Gene

  1. Human allantoicase gene: cDNA cloning, genomic organization and chromosome localization. (PMID: 11054555) Vigetti D … Bernardini G (Gene 2000) 2 3 4 22 58
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Genomic organization and chromosome localization of the murine and human allantoicase gene. (PMID: 12036579) Vigetti D … Bernardini G (Gene 2002) 3 4 58
  5. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X … Chen J (Molecular systems biology 2015) 3 58

Products for ALLC Gene

Sources for ALLC Gene

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