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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
  • Lactalbumin, Alpha- 2
  • Alpha-Lactalbumin 3
  • Lysozyme G 3
  • LYZL7 4
  • 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 Goat Milk Allergy. Among its related pathways are Lactose synthesis and Galactose metabolism. Gene Ontology (GO) annotations related to this gene include calcium ion binding and lactose synthase activity. An important paralog of this gene is LYZ.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for LALBA Gene

Genomics for LALBA Gene

GeneHancer (GH) Regulatory Elements for LALBA Gene

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
GH12J048600 Enhancer 1 Ensembl ENCODE 650.7 -1.1 -1090 1.2 PKNOX1 JUN BACH1 EBF1 BATF RELA FOSL1 CTBP1 ZNF766 ZNF316 LALBA SNORA2C CCDC184 ASB8 TUBA1C OR11M1P GC12M048339
GH12J048714 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 14.7 -116.4 -116358 3.1 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC CCNT1 KANSL2 DDX23 KMT2D LMBR1L SENP1 LOC390314 CCDC184 OR11M1P LALBA
GH12J048956 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.6 -356.7 -356707 3 HDGF PKNOX1 CLOCK SMAD1 ARID4B NEUROD1 SIN3A FEZF1 ZNF2 YY1 ARF3 ENSG00000272822 CCNT1 KANSL2 LMBR1L LOC390314 DDX23 KMT2D SENP1 PRPF40B
GH12J049055 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 14.6 -458.4 -458392 6.7 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 GC12P049057 DDX23 LOC390314 LMBR1L CCNT1 KANSL2 KMT2D SENP1 PRPF40B LOC100422296
GH12J049321 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 14.6 -722.9 -722949 2.4 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B LOC101927267 TROAP CCNT1 KANSL2 DDX23 KMT2D LMBR1L LOC390314 C1QL4 FAM186B
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for LALBA Gene

Genomic Locations for LALBA Gene
chr12:48,567,684-48,600,111
(GRCh38/hg38)
Size:
32,428 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LALBA Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Suggested Antigen Peptide Sequences for LALBA Gene

GenScript: Design optimal peptide antigens:

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:0003796 lysozyme activity IBA --
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

Clone Products

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 5
plasma membrane 2
nucleus 2
cytosol 2
cytoskeleton 1
endoplasmic reticulum 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

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

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:0016998 cell wall macromolecule catabolic process IBA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
lactose Approved, Investigational Pharma 0
Palmitic Acid Approved, Experimental Pharma Full agonist, Agonist, Target 23
D-glucose Approved, Vet_approved Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0
Uridine diphosphategalactose Experimental Pharma 0

(44) 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 :
(6) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LALBA Gene

Lactalbumin, alpha-:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for LALBA Gene

GeneLoc Exon Structure for
LALBA
ECgene alternative splicing isoforms for
LALBA

Expression for LALBA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of LALBA Gene:

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(4.2)
  • Blood(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 34 33
  • 99.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LALBA 34 33
  • 87.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LALBA 34 33
  • 84.51 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lalba 33
  • 78.01 (n)
mouse
(Mus musculus)
Mammalia Lalba 16 34 33
  • 75.89 (n)
oppossum
(Monodelphis domestica)
Mammalia LALBA 34
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 35 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 34 (a)
OneToMany
-- 34
  • 31 (a)
OneToMany
-- 34
  • 29 (a)
OneToMany
-- 34
  • 27 (a)
OneToMany
-- 34
  • 24 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG16756 34
  • 28 (a)
ManyToMany
LysP 34
  • 28 (a)
ManyToMany
CG11159 34
  • 27 (a)
ManyToMany
LysX 34
  • 27 (a)
ManyToMany
LysE 34
  • 27 (a)
ManyToMany
LysS 34
  • 27 (a)
ManyToMany
LysD 34
  • 26 (a)
ManyToMany
LysB 34
  • 26 (a)
ManyToMany
CG7798 34
  • 26 (a)
ManyToMany
LysC 34
  • 26 (a)
ManyToMany
CG30062 34
  • 23 (a)
ManyToMany
CG16799 34
  • 22 (a)
ManyToMany
CG8492 34
  • 3 (a)
ManyToMany
Species where no ortholog for LALBA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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 from dbSNP and Humsavar for LALBA Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000205309 -- 48,571,621(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000724046 -- 48,571,851(-) G/A upstream_transcript_variant
rs1001001577 -- 48,567,614(-) A/T downstream_transcript_variant
rs1001324354 -- 48,573,032(-) G/T upstream_transcript_variant
rs1001608635 -- 48,572,823(-) A/G upstream_transcript_variant

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

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

Disorder Aliases PubMed IDs
milk allergy
  • milk allergic reaction
goat milk allergy
  • capra hircus milk allergy
mastitis
  • breast inflammation
allergic hypersensitivity disease
  • allergic disease
cutaneous adenocystic carcinoma
  • adenoid cystic carcinoma of the skin
- 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
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 22 58
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  3. The oleic acid complexes of proteolytic fragments of alpha-lactalbumin display apoptotic activity. (PMID: 19968717) Tolin S … Fontana A (The FEBS journal 2010) 3 22 58
  4. Characterization of the denaturation of human alpha-lactalbumin in urea by molecular dynamics simulations. (PMID: 15558602) Smith LJ … van Gunsteren WF (Proteins 2005) 3 22 58
  5. 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 22 58

Products for LALBA Gene

Sources for LALBA Gene

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