LALBA (lactalbumin alpha)

Gene

• Entrez ID: 3906
• Gene name: Lactalbumin alpha
• Gene symbol: LALBA
• Synonyms (NCBI Gene): HAMLET, LYZG
• Chromosome: 12
• Chromosome location: 12q13.11
• Summary: This gene encodes alpha-lactalbumin, a principal protein of milk. Alpha-lactalbumin forms the regulatory subunit of the lactose synthase (LS) heterodimer and beta 1,4-galactosyltransferase (beta4Gal-T1) forms the catalytic component. Together, these prote

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1103219	hsa-miR-1275	CLIP-seq
MIRT1103220	hsa-miR-142-3p	CLIP-seq
MIRT1103221	hsa-miR-3606	CLIP-seq
MIRT1103222	hsa-miR-4260	CLIP-seq
MIRT1103223	hsa-miR-4525	CLIP-seq
MIRT1103224	hsa-miR-4665-5p	CLIP-seq
MIRT1103225	hsa-miR-4718	CLIP-seq
MIRT1103226	hsa-miR-4723-5p	CLIP-seq
MIRT1103227	hsa-miR-625	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0003796	Function	Lysozyme activity	IBA
GO:0004461	Function	Lactose synthase activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	TAS	7644538
GO:0005796	Component	Golgi lumen	TAS
GO:0005989	Process	Lactose biosynthetic process	IEA
GO:0005989	Process	Lactose biosynthetic process	TAS	7708733
GO:0006915	Process	Apoptotic process	TAS	7644538
GO:0007165	Process	Signal transduction	TAS	7644538
GO:0007267	Process	Cell-cell signaling	TAS	7644538
GO:0032991	Component	Protein-containing complex	IEA
GO:0042742	Process	Defense response to bacterium	TAS	7644538
GO:0046872	Function	Metal ion binding	IEA
GO:0050829	Process	Defense response to Gram-negative bacterium	IBA
GO:0050830	Process	Defense response to Gram-positive bacterium	IBA

Other IDs

• MIM: 149750
• HGNC: 6480
• e!Ensembl: ENSG00000167531

Protein

• UniProt ID: P00709
• Protein name: Alpha-lactalbumin (Lactose synthase B protein) (Lysozyme-like protein 7)
• Protein function: Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate compo
• PDB: 1A4V, 1B9O, 1CB3, 1HML, 3B0I, 3B0O, 4L41
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00062	Lys	20 → 139	C-type lysozyme/alpha-lactalbumin family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Mammary gland specific. Secreted in milk.
• Sequence:

  MRFFVPLFLVGILFPAILAKQFTKCELSQLLKDIDGYGGIALPELICTMFHTSGYDTQAI
  VENNESTEYGLFQISNKLWCKSSQVPQSRNICDISCDKFLDDDITDDIMCAKKILDIKGI
  DYWLAHKALCTEKLEQWLCEKL

• Sequence length: 142

Pathways

KEGG:

Galactose metabolism
Metabolic pathways

Reactome:

Lactose synthesis

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
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	16373700, 28916248, 30194494, 7219546		★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	29678750		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29173234		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28752795		★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	29917215		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	31476130		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16373700, 28916248, 30194494, 7219546		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28949782		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28430646, 7219546		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	29246421		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29246421		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16373700, 31005617, 31082436		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31099356		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	29747700		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	23944930		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29173234		★☆☆☆☆ Found in Text Mining only