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    LALBA lactalbumin alpha [ Homo sapiens (human) ]

    Gene ID: 3906, updated on 14-Nov-2024

    Summary

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    Official Symbol
    LALBAprovided by HGNC
    Official Full Name
    lactalbumin alphaprovided by HGNC
    Primary source
    HGNC:HGNC:6480
    See related
    Ensembl:ENSG00000167531 MIM:149750; AllianceGenome:HGNC:6480
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LYZG; HAMLET
    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 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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See LALBA in Genome Data Viewer
    Location:
    12q13.11
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (48567684..48571845, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (48529699..48533867, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (48961467..48965628, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak1721 silencer Neighboring gene olfactory receptor family 8 subfamily S member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4408 Neighboring gene olfactory receptor family 5 subfamily BS member 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:48995486-48996685 Neighboring gene olfactory receptor family 11 subfamily M member 1 pseudogene Neighboring gene uncharacterized LOC124902928

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Probing subtle differences in the hydrogen exchange behavior of variants of the human alpha-lactalbumin molten globule using mass spectrometry. Last AM, et al. J Mol Biol, 2001 Aug 24. PMID 11518539
    2. Characterization of the denaturation of human alpha-lactalbumin in urea by molecular dynamics simulations. Smith LJ, et al. Proteins, 2005 Feb 1. PMID 15558602
    3. Conformational analysis of HAMLET, the folding variant of human alpha-lactalbumin associated with apoptosis. Casbarra A, et al. Protein Sci, 2004 May. PMID 15075403, Free PMC Article
    4. Lipids as cofactors in protein folding: stereo-specific lipid-protein interactions are required to form HAMLET (human alpha-lactalbumin made lethal to tumor cells). Svensson M, et al. Protein Sci, 2003 Dec. PMID 14627740, Free PMC Article
    5. Structural characterisation of the human alpha-lactalbumin molten globule at high temperature. Ramboarina S, et al. J Mol Biol, 2003 Jul 25. PMID 12860137

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. human alpha-lactalbumin and human lactoferrin complexes appeared to interact with the chromatin of isolated nuclei affecting chromatin structural organization
      Title: Effect of alpha-lactalbumin and lactoferrin oleic acid complexes on chromatin structural organization.
    2. Studies indicate that alpha-lactalbumin has two domains, a large alpha-helical domain and a small beta-sheet domain connected by a calcium binding loop.
      Title: Disorder in Milk Proteins: α-Lactalbumin. Part C. Peculiarities of Metal Binding.
    3. High molecular mass complexes are formed with alpha-lactalbumin and alphaB-crystallin, preventing the amorphous aggregation of alpha-lactalbumin.
      Title: The small heat-shock protein αB-crystallin uses different mechanisms of chaperone action to prevent the amorphous versus fibrillar aggregation of α-lactalbumin.
    4. analysis of macromolecular crowding on the structural stability of human alpha-lactalbumin
      Title: Effects of macromolecular crowding on the structural stability of human α-lactalbumin.
    5. Data show that alpha-lactalbumin and CD14 form a complex in the gut which alters degradation of CD14, suggesting a mechanism by which this key LPS receptor may remain functional in the neonatal gut.
      Title: Alpha-lactalbumin in human milk alters the proteolytic degradation of soluble CD14 by forming a complex.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    7. The complexes formed by partially folded alpha-lactalbumin with oleic acid display selective apoptotic activity against tumor cells.
      Title: The oleic acid complexes of proteolytic fragments of alpha-lactalbumin display apoptotic activity.
    8. the structural preferences of the alpha-LA molten globule at pH 7 at the level of individual residues were investigated.
      Title: The human alpha-lactalbumin molten globule: comparison of structural preferences at pH 2 and pH 7.
    9. recombinant human alpha-LA was purified from transgenic milk and displayed physicochemical properties similar to its natural counterpart with respect to molecular weight, structure, and regulatory activity for beta-1,4-galactosyltransferase
      Title: Expression and characterization of bioactive recombinant human alpha-lactalbumin in the milk of transgenic cloned cows.
    10. alpha-lactalbumin molten globule has even more native-like character than suggested by studies conducted at higher temperature
      Title: Probing the effect of temperature on the backbone dynamics of the human alpha-lactalbumin molten globule.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC138521, MGC138523

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lactose synthase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lysozyme activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in defense response to Gram-negative bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in defense response to Gram-positive bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in defense response to bacterium TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in lactose biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    alpha-lactalbumin
    Names
    lactose synthase B protein
    lysozyme G
    lysozyme-like protein 7
    NP_001371279.1
    NP_002280.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001384350.1 → NP_001371279.1  alpha-lactalbumin precursor

      Status: REVIEWED

      Source sequence(s)
      AC089987
      Consensus CDS
      CCDS8765.1
      UniProtKB/Swiss-Prot
      P00709, Q6FGX0, Q9UDK4
      UniProtKB/TrEMBL
      A0A080YV01, F8VWU1
      Conserved Domains (1) summary
      pfam00062
      Location:20 → 138
      Lys; C-type lysozyme/alpha-lactalbumin family

    2. NM_002289.3 → NP_002280.1  alpha-lactalbumin precursor

      See identical proteins and their annotated locations for NP_002280.1

      Status: REVIEWED

      Source sequence(s)
      AC089987
      Consensus CDS
      CCDS8765.1
      UniProtKB/Swiss-Prot
      P00709, Q6FGX0, Q9UDK4
      UniProtKB/TrEMBL
      A0A080YV01, F8VWU1
      Related
      ENSP00000301046.2, ENST00000301046.6
      Conserved Domains (1) summary
      pfam00062
      Location:20 → 138
      Lys; C-type lysozyme/alpha-lactalbumin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      48567684..48571845 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      48529699..48533867 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P00709.1 GenPept UniProtKB/Swiss-Prot:P00709

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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