MBLAC1 (metallo-beta-lactamase domain containing 1)

Gene

• Entrez ID: 255374
• Gene name: Metallo-beta-lactamase domain containing 1
• Gene symbol: MBLAC1
• Synonyms (NCBI Gene): -
• Chromosome: 7
• Chromosome location: 7q22.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1135285	hsa-miR-587	CLIP-seq
MIRT2038440	hsa-miR-3612	CLIP-seq
MIRT2038441	hsa-miR-4443	CLIP-seq
MIRT2038442	hsa-miR-4749-3p	CLIP-seq
MIRT2038443	hsa-miR-532-3p	CLIP-seq
MIRT1135285	hsa-miR-587	CLIP-seq
MIRT2038444	hsa-miR-639	CLIP-seq
MIRT2038445	hsa-miR-650	CLIP-seq
MIRT2038446	hsa-miR-662	CLIP-seq
MIRT2268295	hsa-miR-34a	CLIP-seq
MIRT2268296	hsa-miR-34c-5p	CLIP-seq
MIRT2268297	hsa-miR-3664-5p	CLIP-seq
MIRT2268298	hsa-miR-449a	CLIP-seq
MIRT2268299	hsa-miR-449b	CLIP-seq
MIRT2268300	hsa-miR-4649-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004521	Function	RNA endonuclease activity	IMP	30507380
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005634	Component	Nucleus	IDA	30507380
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	30507380
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0008334	Process	Histone mRNA metabolic process	IMP	30507380
GO:0016787	Function	Hydrolase activity	IEA
GO:0031124	Process	MRNA 3'-end processing	IMP	30507380
GO:0046872	Function	Metal ion binding	IDA	30507380
GO:0046872	Function	Metal ion binding	IEA
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IMP	30507380

Other IDs

• MIM: 620906
• HGNC: 22180
• e!Ensembl: ENSG00000214309

Protein

• UniProt ID: A4D2B0
• Protein name: Metallo-beta-lactamase domain-containing protein 1 (EC 3.1.27.-) (Endoribonuclease MBLAC1)
• Protein function: Endoribonuclease that catalyzes the hydrolysis of histone-coding pre-mRNA 3'-end. Involved in histone pre-mRNA processing during the S-phase of the cell cycle, which is required for entering/progressing through S-phase (PubMed:30507380). Cleaves
• PDB: 4V0H
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00753	Lactamase_B	71 → 135	Metallo-beta-lactamase superfamily	Domain

• Sequence:

  MRTEPLCGASPLLVPGDPYSVVVLLQGYAEPEGVGDAVRADGSVTLVLPQTRGPASSHRE
  SPRGSGGAEAALEEAARGPILVDTGGPWAREALLGALAGQGVAPGDVTLVVGTHGHSDHI
  GNLGLFPGAALLVSHDFCLPGGRYLPHGLGEGQPLRLGPGLEVWATPGHGGQRDVSVVVA
  GTALGTVVVAGDVFERDGDEDSWQALSEDPAAQERSRKRVLVVADVVVPGHGPPFRVLRE
  ASQPETEGGGNSQQEPVVGDEEPALH

• Sequence length: 266

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
FAMILIAL LONG QT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	30413934	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30507380		★☆☆☆☆ Found in Text Mining only