MT1A metallothionein 1A [Homo sapiens (human)] - Gene

Summary

Official Symbol: MT1Aprovided by HGNC
Official Full Name: metallothionein 1Aprovided by HGNC
Primary source: HGNC:HGNC:7393
See related: Ensembl:ENSG00000205362 MIM:156350; AllianceGenome:HGNC:7393
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MT1; MTC; MT1S; MT-1A; MT-IA
Summary: This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions. The conserved cysteine residues co-ordinate metal ions using mercaptide linkages. These proteins act as anti-oxidants, protect against hydroxyl free radicals, are important in homeostatic control of metal in the cell, and play a role in detoxification of heavy metals. Disruption of two metallothionein genes in mouse resulted in defects in protection against heavy metals, oxidative stress, immune reactions, carcinogens, and displayed obesity. [provided by RefSeq, Sep 2017]
Expression: Broad expression in liver (RPKM 10.5), adrenal (RPKM 7.7) and 15 other tissues See more
Orthologs: all
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Genomic context

Location:: 16q13

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (56638666..56640087)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (62433646..62435069)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (56672578..56673999)

Chromosome 16 - NC_000016.10 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?

An Assessment of MT1A (rs11076161), MT2A (rs28366003) and MT1L (rs10636) Gene Polymorphisms and MT2 Concentration in Women with Endometrial Pathologies.
Title: An Assessment of MT1A (rs11076161), MT2A (rs28366003) and MT1L (rs10636) Gene Polymorphisms and MT2 Concentration in Women with Endometrial Pathologies.
Effect of metallothionein 1A rs8052394 polymorphism on lead, cadmium, zinc, and aluminum levels in factory workers.
Title: Effect of metallothionein 1A rs8052394 polymorphism on lead, cadmium, zinc, and aluminum levels in factory workers.
The pathways and domain specificity of Cu(I) binding to human metallothionein 1A.
Title: The pathways and domain specificity of Cu(I) binding to human metallothionein 1A.
Expression profiles of metallothionein-I/II and megalin/LRP-2 in uterine cervical squamous lesions.
Title: Expression profiles of metallothionein-I/II and megalin/LRP-2 in uterine cervical squamous lesions.
Interplay between Carbonic Anhydrases and Metallothioneins: Structural Control of Metalation.
Title: Interplay between Carbonic Anhydrases and Metallothioneins: Structural Control of Metalation.
pH dependence of the non-cooperative binding of Bi(3+) to human apo-metallothionein 1A: kinetics, speciation, and stoichiometry.
Title: pH dependence of the non-cooperative binding of Bi(3+) to human apo-metallothionein 1A: kinetics, speciation, and stoichiometry.
Metallothionein Genes are Highly Expressed in Malignant Astrocytomas and Associated with Patient Survival.
Title: Metallothionein Genes are Highly Expressed in Malignant Astrocytomas and Associated with Patient Survival.
Reduced hepatic metallothionein expression in first trimester fetuses in response to intrauterine smoking exposure: a consequence of low maternal zinc levels?
Title: Reduced hepatic metallothionein expression in first trimester fetuses in response to intrauterine smoking exposure: a consequence of low maternal zinc levels?
Effects of Vitamin D Receptor, Metallothionein 1A, and 2A Gene Polymorphisms on Toxicity of the Peripheral Nervous System in Chronically Lead-Exposed Workers.
Title: Effects of Vitamin D Receptor, Metallothionein 1A, and 2A Gene Polymorphisms on Toxicity of the Peripheral Nervous System in Chronically Lead-Exposed Workers.
From these studies, it was concluded that at neutral pH, the domain fragments are folded into globular structures where some of the free cysteine residues are buried within the core and are stabilized by hydrogen bonds. Metalation therefore, must take place from the folded conformation.
Title: Isolated domains of recombinant human apo-metallothionein 1A are folded at neutral pH: a denaturant and heat-induced unfolding study using ESI-MS.

Submit: New GeneRIF Correction See all GeneRIFs (58)

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
Tat	tat	Microarray analysis indicates HIV-1 Tat upregulates the interferon-responsive gene expression of many proteins, including Metallothionein, in immature dendritic cells, an effect that likely facilitates the expansion of HIV-1 infection	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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cellular response to cadmium ion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to cadmium ion	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to copper ion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to zinc ion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to zinc ion	IEP Inferred from Expression Pattern more info	PubMed
involved_in detoxification of copper ion	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular zinc ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of growth	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: metallothionein-1A

Names: metallothionein 1A (functional); metallothionein 1S; metallothionein-IA

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.