AGMAT agmatinase (putative) [Homo sapiens (human)] - Gene

Summary

Official Symbol: AGMATprovided by HGNC
Official Full Name: agmatinase (putative)provided by HGNC
Primary source: HGNC:HGNC:18407
See related: Ensembl:ENSG00000116771 MIM:617887; AllianceGenome:HGNC:18407
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
Summary: Enables arginase activity; guanidinobutyrase activity; and guanidinopropionase activity. Predicted to be involved in putrescine biosynthetic process from arginine, using agmatinase. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in kidney (RPKM 88.3), liver (RPKM 22.6) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.21

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (15571699..15585051, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (15016395..15029763, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (15898194..15911546, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

miR151a5p promotes the proliferation and metastasis of colorectal carcinoma cells by targeting AGMAT.
Title: miR‑151a‑5p promotes the proliferation and metastasis of colorectal carcinoma cells by targeting AGMAT.
Agmatinase promotes the lung adenocarcinoma tumorigenesis by activating the NO-MAPKs-PI3K/Akt pathway.
Title: Agmatinase promotes the lung adenocarcinoma tumorigenesis by activating the NO-MAPKs-PI3K/Akt pathway.
Enzymes that are directly involved in the formation of urea are expressed in ocular tissues.
Title: Enzymes of urea synthesis are expressed at the ocular surface, and decreased urea in the tear fluid is associated with dry-eye syndrome.
This study demonistrated that increased expression of agmatinase in hippocampal interneurons of subjects with mood disorders.
Title: Agmatinase, an inactivator of the putative endogenous antidepressant agmatine, is strongly upregulated in hippocampal interneurons of subjects with mood disorders.
Agmatinase activity was predominantly detected in neurons of rat and human brain.
Title: The agmatine-degrading enzyme agmatinase: a key to agmatine signaling in rat and human brain?
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Novel association strategy with copy number variation for identifying new risk Loci of human diseases.
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.
X-ray crystallographic analysis of human agmatinase
Title: Expression, crystallization and preliminary X-ray crystallographic analysis of human agmatinase.
an alternative to ornithine decarboxylase for polyamine biosynthesis
Title: Cloning of human agmatinase. An alternate path for polyamine synthesis induced in liver by hepatitis B virus.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
capsid	gag	Depletion of the AGMAT expression upregulates HIV-1 CA A92E mutant infectivity in CsA-untreated HeLa cells and downregulates its infectivity in CsA-treated HeLa cells	PubMed

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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

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-74260 (e-PCR)
- UniSTS:6472

RH47164 (e-PCR)
- UniSTS:19024

SHGC-2619 (e-PCR)
- UniSTS:60516

RH103318 (e-PCR)
- UniSTS:97649

D17S1136 (e-PCR)
- UniSTS:473214

SHGC-64014 (e-PCR)
- UniSTS:48011

D11S3114 (e-PCR)
- UniSTS:152207

L17877 (e-PCR)
- UniSTS:61334

L17809 (e-PCR)
- UniSTS:39087

L17971 (e-PCR)
- UniSTS:43966

D8S377 (e-PCR)
- UniSTS:55283

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables agmatinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables agmatinase activity	TAS Traceable Author Statement more info
enables arginase activity	IDA Inferred from Direct Assay more info	PubMed
enables guanidinobutyrase activity	IDA Inferred from Direct Assay more info	PubMed
enables guanidinopropionase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in agmatine biosynthetic process	TAS Traceable Author Statement more info
involved_in putrescine biosynthetic process from arginine, using agmatinase	IBA Inferred from Biological aspect of Ancestor more info
involved_in urea cycle	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	TAS Traceable Author Statement more info

General protein information

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Preferred Names: guanidino acid hydrolase, mitochondrial

Names: AUH; agmatinase; agmatinase, mitochondrial; agmatine ureohydrolase (agmatinase); arginase, mitochondrial; guanidinobutyrase, mitochondrial; guanidinopropionase, mitochondrial

NP_079034.3

EC 3.5.3.1

EC 3.5.3.17

EC 3.5.3.7

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.