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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
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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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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

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