MT1L

metallothionein 1L, pseudogene, the group of Metallothioneins

Basic information

Region (hg38): 16:56617563-56618680

Previous symbols: [ "MT1" ]

Links

ENSG00000260549

∙ NCBI:4500 ∙ OMIM:156358 ∙ HGNC:7404 ∙ Uniprot:Q93083 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MT1L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MT1L gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. {ECO:0000250}.;
Pathway: Copper homeostasis;Zinc homeostasis (Consensus)

Recessive Scores

pRec: 0.156

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred: N
gene_indispensability_score: 0.283

Gene ontology

Biological process: cellular zinc ion homeostasis;detoxification of copper ion;negative regulation of growth;cellular response to cadmium ion;cellular response to copper ion;cellular response to zinc ion
Cellular component: nucleus;cytoplasm;perinuclear region of cytoplasm
Molecular function: zinc ion binding;metal ion binding