LALBA lactalbumin alpha [Homo sapiens (human)] - Gene

Summary

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

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:486164

LALBA (e-PCR)
- UniSTS:253986

WI-7600 (e-PCR)
- UniSTS:68443

NoName (e-PCR)
- UniSTS:482167

NoName (e-PCR)
- UniSTS:481677

STS-J00270 (e-PCR)
- UniSTS:50357

GDB:384890 (e-PCR)
- UniSTS:157117

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

EC 2.4.1.22

NP_002280.1

EC 2.4.1.22

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)

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
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