Aliases for AMDHD1 Gene

Aliases for AMDHD1 Gene

  • Amidohydrolase Domain Containing 1 2 3 5
  • Amidohydrolase Domain-Containing Protein 1 3 4
  • Probable Imidazolonepropionase 3 4
  • EC 3.5.2.7 4 51
  • HMFT1272 3
  • MGC35366 2
  • AMDHD1 5

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. Diseases associated with AMDHD1 include Hemochromatosis, Type 2B and Well-Differentiated Liposarcoma. Among its related pathways are Histidine metabolism and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include hydrolase activity and hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides.

Additional gene information for AMDHD1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMDHD1 Gene

Genomics for AMDHD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AMDHD1 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
GH12J095941 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 643.9 -0.3 -259 2.5 HNRNPL PRDM10 ZNF629 TFE3 CTCF ZNF692 POLR2A RCOR2 GABPA PRDM1 AMDHD1 CCDC38 RF00017-1212 lnc-HAL-2 NR2C1 ELK3 METAP2 SNRPF USP44 LTA4H
GH12J095919 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 600.4 -24.7 -24650 0.6 GATAD2A CTCF RXRB REST RAD21 ZNF24 TRIM22 ZKSCAN8 SMC3 ZBTB25 AMDHD1 USP44 piR-51671-013 CCDC38 lnc-HAL-2 lnc-CCDC38-2 SNRPF
GH12J095965 Enhancer 1 Ensembl ENCODE 37.8 +23.2 23244 1.9 GATAD2A REST TFE3 RCOR2 FOXA1 RXRB IRF2 SP1 CEBPA SOX13 lnc-CCDC38-2 AMDHD1 HAL CCDC38 piR-39099-067
GH12J095857 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.3 -84.2 -84189 3.7 SP1 CREB1 ZNF629 TFE3 RFX1 SIX5 ZNF692 POLR2A NFRKB FOS ENSG00000258343 SNRPF LOC105369921 AMDHD1 CCDC38 piR-54033 lnc-CCDC38-2
GH12J095994 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 10.5 +53.0 53027 1.5 CREB1 GATAD2A ATF7 REST TFE3 SOX13 NFKBIZ RCOR2 FOXA1 RXRB HAL ENSG00000257878 LOC102723340 AMDHD1 CCDC38 MN309494
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMDHD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMDHD1

Top Transcription factor binding sites by QIAGEN in the AMDHD1 gene promoter:
  • ATF-2
  • c-Jun
  • c-Myc
  • CP2
  • Max
  • Nkx2-5
  • Pax-5
  • PPAR-alpha
  • SRF
  • SRF (504 AA)

Genomic Locations for AMDHD1 Gene

Genomic Locations for AMDHD1 Gene
chr12:95,943,331-95,968,720
(GRCh38/hg38)
Size:
25,390 bases
Orientation:
Plus strand
chr12:96,337,071-96,362,370
(GRCh37/hg19)
Size:
25,300 bases
Orientation:
Plus strand

Genomic View for AMDHD1 Gene

Genes around AMDHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMDHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAD38660.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for AMDHD1 Gene

Selected DME Specific Peptides for AMDHD1 Gene

Q96NU7:
  • RWEHLIYQ
  • HGSLEVGK
  • LGSDFNPNAYCFSMPMVMHLACVNM
  • RAGTTLVECKSGYGL
  • MLRVIER
  • INFHGDELHP
  • TYCGAHSVPKGK
  • KSGYGLD
  • LRLKQPRAR

Post-translational modifications for AMDHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AMDHD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for AMDHD1 Gene

Gene Families for AMDHD1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for AMDHD1 Gene

InterPro:
Blocks:
  • Amidohydrolase-like
ProtoNet:

Suggested Antigen Peptide Sequences for AMDHD1 Gene

GenScript: Design optimal peptide antigens:
  • Amidohydrolase domain-containing protein 1 (HUTI_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96NU7

UniProtKB/Swiss-Prot:

HUTI_HUMAN :
  • Belongs to the metallo-dependent hydrolases superfamily. HutI family.
Family:
  • Belongs to the metallo-dependent hydrolases superfamily. HutI family.
genes like me logo Genes that share domains with AMDHD1: view

Function for AMDHD1 Gene

Molecular function for AMDHD1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4-imidazolone-5-propanoate + H2O = N-formimidoyl-L-glutamate; Xref=Rhea:RHEA:23660, ChEBI:CHEBI:15377, ChEBI:CHEBI:58928, ChEBI:CHEBI:77893; EC=3.5.2.7;.

Enzyme Numbers (IUBMB) for AMDHD1 Gene

Phenotypes From GWAS Catalog 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 IEA --
GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds IEA --
GO:0016812 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides TAS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AMDHD1: view
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMDHD1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AMDHD1 Gene

Localization for AMDHD1 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 AMDHD1 gene
Compartment Confidence
cytosol 4
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AMDHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
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 & Interactions for AMDHD1 Gene

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

Pathways by source for AMDHD1 Gene

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.

Gene Ontology (GO) - Biological Process for AMDHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006547 histidine metabolic process IEA --
GO:0006548 histidine catabolic process IBA,TAS --
GO:0019556 histidine catabolic process to glutamate and formamide IEA --
GO:0019557 histidine catabolic process to glutamate and formate IEA --
genes like me logo Genes that share ontologies with AMDHD1: view

No data available for SIGNOR curated interactions for AMDHD1 Gene

Drugs & Compounds for AMDHD1 Gene

(2) Drugs for AMDHD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved, Experimental Pharma 1560
Water Approved Pharma 0

(3) Additional Compounds for AMDHD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Imidazolone-5-propionic acid
  • 4,5-dihydro-4-oxo-5-Imidazolepropanoate
  • 4,5-dihydro-5-oxo-1H-Imidazole-4-propanoic acid
  • 4-Imidazolone-5-propanoate
  • Imidazol-4-one-5-propionic acid
  • 4,5-dihydro-4-oxo-5-Imidazolepropanoic acid
17340-16-8
Formiminoglutamic acid
  • N-Formimidoyl-L-glutamate
  • N-formimino-L-Glutamate
  • N-Formimidoyl-L-glutamic acid
  • Formiminoglutamate
  • N-formimino-L-Glutamic acid
816-90-0
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with AMDHD1: view

Transcripts for AMDHD1 Gene

mRNA/cDNA for AMDHD1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMDHD1

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

Expression for AMDHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x39.5).

Protein differential expression in normal tissues from HIPED for AMDHD1 Gene

This gene is overexpressed in Liver (35.6), Liver, secretome (16.1), and Gallbladder (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AMDHD1 Gene



Protein tissue co-expression partners for AMDHD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AMDHD1

SOURCE GeneReport for Unigene cluster for AMDHD1 Gene:

Hs.424907

Evidence on tissue expression from TISSUES for AMDHD1 Gene

  • Liver(4.5)
  • Intestine(4.3)
  • Adrenal gland(4.2)
genes like me logo Genes that share expression patterns with AMDHD1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.61 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AMDHD1 30 31
  • 90.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AMDHD1 30 31
  • 88.28 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Amdhd1 30 17 31
  • 87.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Amdhd1 30
  • 87 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia AMDHD1 31
  • 84 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AMDHD1 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AMDHD1 30 31
  • 78.01 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AMDHD1 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia amdhd1 30
  • 70.58 (n)
Str.19828 30
Zebrafish
(Danio rerio)
Actinopterygii AMDHD1 31
  • 73 (a)
OneToOne
amdhd1 30
  • 68.24 (n)
Dr.26841 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11308 30
Worm
(Caenorhabditis elegans)
Secernentea T12A2.1 30 31
  • 56.01 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 57 (a)
OneToOne
Species where no ortholog for AMDHD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for AMDHD1: view image

Paralogs for AMDHD1 Gene

No data available for Paralogs for AMDHD1 Gene

Variants for AMDHD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMDHD1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs17024904 - p.Pro360His
rs7955450 - p.Ser3Gly

Additional dbSNP identifiers (rs#s) for AMDHD1 Gene

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

Variant ID Type Subtype PubMed ID
dgv34e180 CNV deletion 20482838
esv1136533 CNV deletion 17803354
esv1946077 CNV deletion 18987734
esv2519868 CNV deletion 19546169
esv2572405 CNV loss 19546169
esv2746242 CNV deletion 23290073
esv3251385 CNV deletion 24192839
esv3549618 CNV deletion 23714750
esv4012 CNV loss 18987735
esv8973 CNV loss 19470904
nsv1069690 CNV deletion 25765185
nsv1113510 CNV deletion 24896259
nsv512290 CNV loss 21212237
nsv7234 OTHER inversion 18451855
nsv834 CNV deletion 18451855
nsv957392 CNV deletion 24416366

Variation tolerance for AMDHD1 Gene

Residual Variation Intolerance Score: 54.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.37; 54.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AMDHD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMDHD1

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

Disorders for AMDHD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AMDHD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hemochromatosis, type 2b
  • hfe2b
well-differentiated liposarcoma
  • pleomorphic lipoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for AMDHD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with AMDHD1: view

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

Publications for AMDHD1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. 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
  5. Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels. (PMID: 29343764) Jiang X … Kiel DP (Nature communications 2018) 3

Products for AMDHD1 Gene

  • Signalway Proteins for AMDHD1

Sources for AMDHD1 Gene