MBLAC1

protein-coding

metallo-beta-lactamase domain containing 1, the group of MBL domain containing glyoxalase 2 subfamily

Gene summary

Enables RNA endonuclease activity and metal ion binding activity. Involved in histone mRNA metabolic process; mRNA 3'-end processing; and positive regulation of G1/S transition of mitotic cell cycle. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_203397.3

Inheritance

—

ClinVar variants

P:1U:36

Top phenotype

Congenital long QT syndrome

gnomAD constraint

pLI —, LoF o/e 0.34

Max pathogenic AF

—

Genomic locus

chr7:100,126,785-100,128,495

External References & Databases

Ensembl (ENSG00000214309)

Transcript & Mutation Effects

hg38 • Region Span ~1.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MBLAC1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 36

Congenital long QT syndromeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_203397.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			36 clinvar			36
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)		1 clinvar				1
Total	0	1	36	0	0	37

Highest pathogenic variant AF is 7.120205e-7

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_203397.3	RefSeq	NP_981942.1	1	MANE Select
ENST00000398075.4	Ensembl	ENSP00000381150.2	1	MANE Select
ENST00000421390.1	Ensembl	ENSP00000406055.1	1	Standard
ENST00000905248.1	Ensembl	ENSP00000575307.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

hydrolase activity
metal ion binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000398075
Coding exons: 1
Length: 1802
Individuals with no LoFs: 110675
Homozygous LoFs: 0
Heterozygous LoFs: 15
Defined: 110690
p: 0.0000678

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.20	93	132	0.706	0.00000595	1595
Missense (PolyPhen)		22	42.706	0.51515		549
Synonymous	1.02	54	64.4	0.838	0.00000300	627
Loss of Function	1.05	1	2.94	0.340	1.30e-7	33

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00076	0.00075	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000020	0.000020	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.266

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium