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 proteins enable LS to produce lactose by transfering galactose moieties to glucose. As a monomer, alpha-lactalbumin strongly binds... See more...

Aliases for LALBA Gene

Aliases for LALBA Gene

  • Lactalbumin Alpha 2 3 5
  • Lactose Synthase B Protein 3 4
  • Lysozyme-Like Protein 7 3 4
  • Alpha-Lactalbumin 3 4
  • LYZL7 2 4
  • Lactalbumin, Alpha- 2
  • Lysozyme G 3
  • LALBA 5
  • LYZG 3

External Ids for LALBA Gene

Previous GeneCards Identifiers for LALBA Gene

  • GC12M048927
  • GC12M048678
  • GC12M047247
  • GC12M045995

Summaries for LALBA Gene

Entrez Gene Summary for LALBA Gene

  • 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 proteins enable LS to produce lactose by transfering galactose moieties to glucose. As a monomer, alpha-lactalbumin strongly binds calcium and zinc ions and may possess bactericidal or antitumor activity. A folding variant of alpha-lactalbumin, called HAMLET, likely induces apoptosis in tumor and immature cells. [provided by RefSeq, Jul 2008]

GeneCards Summary for LALBA Gene

LALBA (Lactalbumin Alpha) is a Protein Coding gene. Diseases associated with LALBA include Milk Allergy and Cow Milk Allergy. Among its related pathways are Galactose metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include calcium ion binding and lactose synthase activity. An important paralog of this gene is LYZL2.

UniProtKB/Swiss-Prot Summary for LALBA Gene

  • 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 component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins.

Gene Wiki entry for LALBA Gene

Additional gene information for LALBA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LALBA Gene

Genomics for LALBA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LALBA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J048804 Enhancer 0.2 FANTOM5 1.9 -232.9 -232855 0 piR-50437-117 LALBA ENSG00000207467 CACNB3 lnc-ADCY6-1 ADCY6 MG828730-015
GH12J048556 Enhancer 0.7 Ensembl ENCODE 0.4 +14.9 14882 1.2 PKNOX1 YY1 ZNF589 ETV1 MEIS2 IKZF1 E2F7 POU5F1 E2F1 ATF1 TROAP OR5BS1P piR-61240-075 LALBA OR8S1 MG828730-015
GH12J048600 Enhancer 0.9 Ensembl ENCODE 0.3 -29.1 -29120 1.6 JUND BRD9 DPF2 PKNOX1 EP300 RELA EED ARID3A ZNF766 CTBP1 SNORA2C KANSL2 ASB8 CCDC184 TUBA1C OR11M1P LALBA piR-54324-009 MG828730-015
GH12J048677 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 0.1 -108.6 -108618 5.4 SP1 CREB1 PRDM10 REST ZNF629 IKZF1 NFKBIZ ZNF692 POLR2A NFRKB KANSL2 lnc-CCNT1-2 SENP1 CCNT1 RPAP3 ENSG00000257964 PRPF40B DDX23 KMT2D PARK7P1
GH12J048540 Enhancer 0.8 Ensembl 0.3 +31.5 31482 0.8 JUND RELA EED CEBPB MGA DPF2 HMBOX1 CTBP1 RUNX3 E2F5 ANP32D SNORA2C ZNF641 C12orf54 MN309174-113 OR8S1 LALBA MG828730-015
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LALBA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LALBA

Top Transcription factor binding sites by QIAGEN in the LALBA gene promoter:
  • AML1a
  • c-Ets-1
  • HNF-4alpha1
  • ITF-2
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Tal-1beta
  • YY1

Genomic Locations for LALBA Gene

Genomic Locations for LALBA Gene
chr12:48,567,684-48,571,883
(GRCh38/hg38)
Size:
4,200 bases
Orientation:
Minus strand
chr12:48,961,467-48,963,849
(GRCh37/hg19)
Size:
2,383 bases
Orientation:
Minus strand

Genomic View for LALBA Gene

Genes around LALBA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LALBA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LALBA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LALBA Gene

Proteins for LALBA Gene

  • Protein details for LALBA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00709-LALBA_HUMAN
    Recommended name:
    Alpha-lactalbumin
    Protein Accession:
    P00709
    Secondary Accessions:
    • Q6FGX0
    • Q9UDK4

    Protein attributes for LALBA Gene

    Size:
    142 amino acids
    Molecular mass:
    16225 Da
    Quaternary structure:
    • Lactose synthase (LS) is a heterodimer of a catalytic component, beta1,4-galactosyltransferase (beta4Gal-T1) and a regulatory component, alpha-lactalbumin (LA).

    Three dimensional structures from OCA and Proteopedia for LALBA Gene

neXtProt entry for LALBA Gene

Post-translational modifications for LALBA Gene

  • Glycosylation at Asn64 and Asn90
  • Modification sites at PhosphoSitePlus

Other Protein References for LALBA Gene

No data available for DME Specific Peptides for LALBA Gene

Domains & Families for LALBA Gene

Gene Families for LALBA Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted secreted proteins

Protein Domains for LALBA Gene

InterPro:
Blocks:
  • Lactalbumin signature
ProtoNet:

Suggested Antigen Peptide Sequences for LALBA Gene

GenScript: Design optimal peptide antigens:
  • Lysozyme-like protein 7 (LALBA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P00709

UniProtKB/Swiss-Prot:

LALBA_HUMAN :
  • Belongs to the glycosyl hydrolase 22 family.
Family:
  • Belongs to the glycosyl hydrolase 22 family.
genes like me logo Genes that share domains with LALBA: view

Function for LALBA Gene

Molecular function for LALBA Gene

UniProtKB/Swiss-Prot 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 component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins.
GENATLAS Biochemistry:
lactalbumin,alpha,expressed in mammary gland,homolog to lypozyne,non catalytic regulatory protein,B chain of lactose synthase

Phenotypes From GWAS Catalog for LALBA Gene

Gene Ontology (GO) - Molecular Function for LALBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004461 lactose synthase activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with LALBA: view
genes like me logo Genes that share phenotypes with LALBA: view

Animal Models for LALBA Gene

MGI Knock Outs for LALBA:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LALBA

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for LALBA Gene

Localization for LALBA Gene

Subcellular locations from UniProtKB/Swiss-Prot for LALBA Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LALBA gene
Compartment Confidence
extracellular 5
golgi apparatus 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for LALBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space TAS 7644538
GO:0005796 Golgi lumen TAS --
genes like me logo Genes that share ontologies with LALBA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LALBA Gene

Pathways & Interactions for LALBA Gene

PathCards logo

SuperPathways for LALBA Gene

genes like me logo Genes that share pathways with LALBA: view

Pathways by source for LALBA Gene

3 Reactome pathways for LALBA Gene
2 KEGG pathways for LALBA Gene
1 GeneGo (Thomson Reuters) pathway for LALBA Gene
  • Galactose metabolism

Gene Ontology (GO) - Biological Process for LALBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005989 lactose biosynthetic process IEA,TAS --
GO:0006915 apoptotic process TAS 7644538
GO:0007165 signal transduction TAS 7644538
GO:0007267 cell-cell signaling TAS 7644538
GO:0042742 defense response to bacterium TAS 7644538
genes like me logo Genes that share ontologies with LALBA: view

No data available for SIGNOR curated interactions for LALBA Gene

Drugs & Compounds for LALBA Gene

(44) Drugs for LALBA Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
lactose Approved, Experimental, Investigational Pharma 0
Palmitic Acid Approved Pharma Agonist, Full agonist, Target 27
D-glucose Approved, Investigational, Vet_approved Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0
Uridine diphosphategalactose Experimental Pharma 0

(43) Additional Compounds for LALBA Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
beta-Lactose
  • 4-O-beta-D-Galactopyranosyl-beta-D-glucopyranose
  • beta-D-Galactopyranosyl-(1->4)-beta-D-glucose
  • beta-D-Galp-(1->4)-beta-D-GLCP
  • beta-D-Lactose
  • Galbeta1-4glcbeta
5965-66-2
genes like me logo Genes that share compounds with LALBA: view

Transcripts for LALBA Gene

mRNA/cDNA for LALBA Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LALBA

Alternative Splicing Database (ASD) splice patterns (SP) for LALBA Gene

No ASD Table

Relevant External Links for LALBA Gene

GeneLoc Exon Structure for
LALBA

Expression for LALBA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LALBA Gene

mRNA differential expression in normal tissues according to GTEx for LALBA Gene

This gene is overexpressed in Breast - Mammary Tissue (x51.8).

Protein differential expression in normal tissues from HIPED for LALBA Gene

This gene is overexpressed in Milk (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LALBA Gene



Protein tissue co-expression partners for LALBA Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LALBA

SOURCE GeneReport for Unigene cluster for LALBA Gene:

Hs.72938

mRNA Expression by UniProt/SwissProt for LALBA Gene:

P00709-LALBA_HUMAN
Tissue specificity: Mammary gland specific. Secreted in milk.

Evidence on tissue expression from TISSUES for LALBA Gene

  • Nervous system(4.4)
  • Blood(2.6)
  • Intestine(2.1)
  • Stomach(2.1)
  • Skin(2)
genes like me logo Genes that share expression patterns with LALBA: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for LALBA Gene

Orthologs for LALBA Gene

This gene was present in the common ancestor of animals.

Orthologs for LALBA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LALBA 30 31
  • 99.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LALBA 30 31
  • 87.79 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LALBA 30 31
  • 84.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lalba 30
  • 78.01 (n)
Mouse
(Mus musculus)
Mammalia Lalba 30 17 31
  • 75.89 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LALBA 31
  • 48 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 35 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 34 (a)
OneToMany
-- 31
  • 31 (a)
OneToMany
-- 31
  • 29 (a)
OneToMany
-- 31
  • 27 (a)
OneToMany
-- 31
  • 24 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG16756 31
  • 28 (a)
ManyToMany
LysP 31
  • 28 (a)
ManyToMany
CG11159 31
  • 27 (a)
ManyToMany
LysX 31
  • 27 (a)
ManyToMany
LysE 31
  • 27 (a)
ManyToMany
LysS 31
  • 27 (a)
ManyToMany
LysD 31
  • 26 (a)
ManyToMany
LysB 31
  • 26 (a)
ManyToMany
CG7798 31
  • 26 (a)
ManyToMany
LysC 31
  • 26 (a)
ManyToMany
CG30062 31
  • 23 (a)
ManyToMany
CG16799 31
  • 22 (a)
ManyToMany
CG8492 31
  • 3 (a)
ManyToMany
Species where no ortholog for LALBA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for LALBA Gene

ENSEMBL:
Gene Tree for LALBA (if available)
TreeFam:
Gene Tree for LALBA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LALBA: view image

Paralogs for LALBA Gene

Paralogs for LALBA Gene

(7) SIMAP similar genes for LALBA Gene using alignment to 2 proteins:

  • LALBA_HUMAN
  • F8VWU1_HUMAN
genes like me logo Genes that share paralogs with LALBA: view

Variants for LALBA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LALBA Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs2232565 - p.Ile46Val

Additional dbSNP identifiers (rs#s) for LALBA Gene

Variation tolerance for LALBA Gene

Residual Variation Intolerance Score: 63.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LALBA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LALBA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for LALBA Gene

Disorders for LALBA Gene

MalaCards: The human disease database

(23) MalaCards diseases for LALBA Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
milk allergy
  • milk allergic reaction
cow milk allergy
  • bos taurus milk allergy
skin papilloma
  • cutaneous papilloma
mastitis
  • breast inflammation
goat milk allergy
  • capra hircus milk allergy
- elite association - COSMIC cancer census association via MalaCards
Search LALBA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LALBA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with LALBA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LALBA Gene

Publications for LALBA Gene

  1. Structural evidence for the presence of a secondary calcium binding site in human alpha-lactalbumin. (PMID: 9537992) Chandra N … Acharya KR (Biochemistry 1998) 3 4 23
  2. The oleic acid complexes of proteolytic fragments of alpha-lactalbumin display apoptotic activity. (PMID: 19968717) Tolin S … Fontana A (The FEBS journal 2010) 3 23
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41
  4. Detection of a single nucleotide polymorphism in the human alpha-lactalbumin gene: implications for human milk proteins. (PMID: 15866226) Chowanadisai W … Lönnerdal B (The Journal of nutritional biochemistry 2005) 4 23
  5. Effects of the stabilization of the molten globule state on the folding mechanism of alpha-lactalbumin: a study of a chimera of bovine and human alpha-lactalbumin. (PMID: 16121399) Mizuguchi M … Kawano K (Proteins 2005) 3 23

Products for LALBA Gene

Sources for LALBA Gene