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Aliases for AMDHD1 Gene

Aliases for AMDHD1 Gene

  • Amidohydrolase Domain Containing 1 2 3
  • Amidohydrolase Domain-Containing Protein 1 3 4
  • EC 3.5.2.7 4 63
  • Probable Imidazolonepropionase 3
  • HMFT1272 3

External Ids for AMDHD1 Gene

Previous GeneCards Identifiers for AMDHD1 Gene

  • GC12P094840
  • GC12P096337
  • GC12P093401

Summaries for AMDHD1 Gene

GeneCards Summary for AMDHD1 Gene

AMDHD1 (Amidohydrolase Domain Containing 1) is a Protein Coding gene. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include imidazolonepropionase activity.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMDHD1 Gene

Genomics for AMDHD1 Gene

Regulatory Elements for AMDHD1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AMDHD1 Gene

Start:
95,943,293 bp from pter
End:
95,968,716 bp from pter
Size:
25,424 bases
Orientation:
Plus strand

Genomic View for AMDHD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AMDHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMDHD1 Gene

Proteins for AMDHD1 Gene

  • Protein details for AMDHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NU7-HUTI_HUMAN
    Recommended name:
    Probable imidazolonepropionase
    Protein Accession:
    Q96NU7
    Secondary Accessions:
    • A8K463
    • Q68CI8

    Protein attributes for AMDHD1 Gene

    Size:
    426 amino acids
    Molecular mass:
    46743 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Note=Binds 1 zinc or iron ion per subunit.;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAD38660.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for AMDHD1 Gene

Proteomics data for AMDHD1 Gene at MOPED

Post-translational modifications for AMDHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AMDHD1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for AMDHD1 Gene

Protein Domains for AMDHD1 Gene

Suggested Antigen Peptide Sequences for AMDHD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96NU7

UniProtKB/Swiss-Prot:

HUTI_HUMAN :
  • Q96NU7
Family:
  • Belongs to the HutI family.
genes like me logo Genes that share domains with AMDHD1: view

No data available for Gene Families for AMDHD1 Gene

Function for AMDHD1 Gene

Molecular function for AMDHD1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: (S)-3-(5-oxo-4,5-dihydro-3H-imidazol-4-yl)propanoate + H(2)O = N-formimidoyl-L-glutamate + H(+)

Enzyme Numbers (IUBMB) for AMDHD1 Gene

Gene Ontology (GO) - Molecular Function for AMDHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0016787 hydrolase activity --
GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds --
GO:0016812 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AMDHD1: view

Phenotypes for AMDHD1 Gene

GenomeRNAi human phenotypes for AMDHD1:
genes like me logo Genes that share phenotypes with AMDHD1: view

Animal Model Products

CRISPR Products

miRNA for AMDHD1 Gene

miRTarBase miRNAs that target AMDHD1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AMDHD1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for AMDHD1 Gene

Localization for AMDHD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AMDHD1 Gene COMPARTMENTS Subcellular localization image for AMDHD1 gene
Compartment Confidence
cytosol 4
nucleus 2
peroxisome 2
golgi apparatus 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AMDHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AMDHD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for AMDHD1 Gene

Pathways for AMDHD1 Gene

genes like me logo Genes that share pathways with AMDHD1: view

Pathways by source for AMDHD1 Gene

2 BioSystems pathways for AMDHD1 Gene
2 KEGG pathways for AMDHD1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q96NU7-HUTI_HUMAN

  • Pathway: Amino-acid degradation; L-histidine degradation into L-glutamate; N-formimidoyl-L-glutamate from L-histidine: step 3/3

Interacting Proteins for AMDHD1 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000266736%0d%0a9606.ENSP00000291670%0d%0a9606.ENSP00000373073%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000266736 for AMDHD1 Gene via STRING

Gene Ontology (GO) - Biological Process for AMDHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006548 histidine catabolic process TAS --
GO:0019556 histidine catabolic process to glutamate and formamide IEA --
GO:0019557 histidine catabolic process to glutamate and formate IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with AMDHD1: view

Compounds for AMDHD1 Gene

(4) HMDB Compounds for AMDHD1 Gene

Compound Synonyms Cas Number PubMed IDs
4-Imidazolone-5-propionic acid
  • 4,5-dihydro-4-oxo-5-imidazolepropanoate
17340-16-8
Formiminoglutamic acid
  • Formimino-glu
816-90-0
Iron
  • Armco iron
7439-89-6
Water
  • Dihydrogen oxide
7732-18-5
genes like me logo Genes that share compounds with AMDHD1: view

Transcripts for AMDHD1 Gene

mRNA/cDNA for AMDHD1 Gene

Unigene Clusters for AMDHD1 Gene

Amidohydrolase domain containing 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AMDHD1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AMDHD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2: - -
SP3:

Relevant External Links for AMDHD1 Gene

GeneLoc Exon Structure for
AMDHD1
ECgene alternative splicing isoforms for
AMDHD1

Expression for AMDHD1 Gene

mRNA expression in normal human tissues for AMDHD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AMDHD1 Gene

This gene is overexpressed in Liver (39.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AMDHD1 Gene

SOURCE GeneReport for Unigene cluster for AMDHD1 Gene Hs.424907

genes like me logo Genes that share expressions with AMDHD1: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for AMDHD1 Gene

Orthologs for AMDHD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AMDHD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AMDHD1 35
  • 99.61 (n)
  • 99.06 (a)
AMDHD1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AMDHD1 35
  • 90.51 (n)
  • 92.47 (a)
AMDHD1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMDHD1 35
  • 88.28 (n)
  • 89.5 (a)
AMDHD1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Amdhd1 35
  • 87.61 (n)
  • 89.41 (a)
Amdhd1 16
Amdhd1 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AMDHD1 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMDHD1 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Amdhd1 35
  • 87 (n)
  • 88.65 (a)
chicken
(Gallus gallus)
Aves AMDHD1 35
  • 78.01 (n)
  • 82.63 (a)
AMDHD1 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMDHD1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia amdhd1 35
  • 70.58 (n)
  • 76.06 (a)
Str.19828 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11308 35
zebrafish
(Danio rerio)
Actinopterygii amdhd1 35
  • 68.24 (n)
  • 72.47 (a)
AMDHD1 36
  • 73 (a)
OneToOne
Dr.26841 35
worm
(Caenorhabditis elegans)
Secernentea T12A2.1 35
  • 56.01 (n)
  • 48.69 (a)
T12A2.1 36
  • 47 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToOne
Species with no ortholog for AMDHD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)

Evolution for AMDHD1 Gene

ENSEMBL:
Gene Tree for AMDHD1 (if available)
TreeFam:
Gene Tree for AMDHD1 (if available)

Paralogs for AMDHD1 Gene

No data available for Paralogs for AMDHD1 Gene

Variants for AMDHD1 Gene

Sequence variations from dbSNP and Humsavar for AMDHD1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs11826 -- 95,968,524(+) ATTTT(C/G/T)GATTC utr-variant-3-prime
rs1025606 -- 95,966,572(+) CCTAA(A/T)TCCCT intron-variant
rs1025607 -- 95,966,728(+) GGTAT(C/T)TTTCG intron-variant
rs1025608 -- 95,966,925(+) TTTTC(C/T)TGTTC intron-variant
rs1968486 -- 95,967,147(-) tcttg(A/C)ctgct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AMDHD1 Gene

Variant ID Type Subtype PubMed ID
nsv7234 OTHER Inversion 18451855
nsv834 CNV Loss 18451855
esv2572405 CNV Loss 19546169
esv2519868 CNV Deletion 19546169
dgv34e180 CNV Deletion 20482838
esv1946077 CNV Deletion 18987734
esv4012 CNV Deletion 18987735
nsv512290 CNV Loss 21212237
esv2746242 CNV Deletion 23290073
esv8973 CNV Loss 19470904
esv1136533 CNV Deletion 17803354

Relevant External Links for AMDHD1 Gene

HapMap Linkage Disequilibrium report
AMDHD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMDHD1 Gene

Disorders for AMDHD1 Gene

Relevant External Links for AMDHD1

Genetic Association Database (GAD)
AMDHD1
Human Genome Epidemiology (HuGE) Navigator
AMDHD1
genes like me logo Genes that share disorders with AMDHD1: view

No data available for UniProtKB/Swiss-Prot for AMDHD1 Gene

Publications for AMDHD1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PMID: 15221005) Yamada S. … Nakagawara A. (Oncogene 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PMID: 21906983) Kim W. … Gygi S.P. (Mol. Cell 2011) 3

Products for AMDHD1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate AMDHD1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for AMDHD1
    • Block miRNA regulation of AMDHD1 using miScript Target Protectors

    Sources for AMDHD1 Gene

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