AMDHD1 amidohydrolase domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AMDHD1provided by HGNC
Official Full Name: amidohydrolase domain containing 1provided by HGNC
Primary source: HGNC:HGNC:28577
See related: Ensembl:ENSG00000139344 MIM:620863; AllianceGenome:HGNC:28577
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: HMFT1272
Summary: Predicted to enable imidazolonepropionase activity. Predicted to be involved in L-histidine catabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in liver (RPKM 25.7), adrenal (RPKM 6.0) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 12q23.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (95943331..95968720)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (95919901..95942718)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (96337109..96362498)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

This larger GWAS yields two loci harboring genome-wide significant variants affecting serum 25-hydroxyvitamin D levels (P = 4.7x10(-9) at rs8018720 in SEC23A, and P = 1.9x10(-14) at rs10745742 in AMDHD1).
Title: Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	TAS Traceable Author Statement more info
enables imidazolonepropionase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in L-histidine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-histidine catabolic process	TAS Traceable Author Statement more info
involved_in L-histidine catabolic process to glutamate and formamide	IEA Inferred from Electronic Annotation more info
involved_in L-histidine catabolic process to glutamate and formate	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: probable imidazolonepropionase

Names: amidohydrolase domain-containing protein 1

NP_689648.2

EC 3.5.2.7

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)

NM_152435.3 → NP_689648.2 probable imidazolonepropionase

See identical proteins and their annotated locations for NP_689648.2

Status: VALIDATED

Source sequence(s)

AB075878, AC126174, AK122802, BC029146

Consensus CDS

CCDS9057.1

UniProtKB/Swiss-Prot

A8K463, Q68CI8, Q96NU7

UniProtKB/TrEMBL

B3KVC5

Related

ENSP00000266736.2, ENST00000266736.7

Conserved Domains (1) summary

cd01296
Location:43 → 420

Imidazolone-5PH; Imidazolonepropionase/imidazolone-5-propionate hydrolase (Imidazolone-5PH) catalyzes the third step in the histidine degradation pathway, the hydrolysis of (S)-3-(5-oxo-4,5-dihydro-3H-imidazol-4-yl)propanoate to N-formimidoyl-L-glutamate. In bacteria, ...