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LALBA lactalbumin alpha [ Homo sapiens (human) ]

Gene ID: 3906, updated on 11-Sep-2019

Summary

Official Symbol
LALBAprovided by HGNC
Official Full Name
lactalbumin alphaprovided by HGNC
Primary source
HGNC:HGNC:6480
See related
Ensembl:ENSG00000167531 MIM:149750
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
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

Genomic context

See LALBA in Genome Data Viewer
Location:
12q13.11
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (48567684..48571883, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (48961467..48963829, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 8 subfamily S member 1 Neighboring gene olfactory receptor family 5 subfamily BS member 1 pseudogene Neighboring gene olfactory receptor family 11 subfamily M member 1 pseudogene Neighboring gene small nucleolar RNA, H/ACA box 2C Neighboring gene microRNA 1291 Neighboring gene KAT8 regulatory NSL complex subunit 2

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138521, MGC138523

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
alpha-lactalbumin
Names
lactose synthase B protein
lysozyme G
lysozyme-like protein 7
NP_002280.1
XP_006719458.1

NCBI Reference Sequences (RefSeq)

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_002289.2NP_002280.1  alpha-lactalbumin precursor

    See identical proteins and their annotated locations for NP_002280.1

    Status: REVIEWED

    Source sequence(s)
    BC069103, BX281629
    Consensus CDS
    CCDS8765.1
    UniProtKB/Swiss-Prot
    P00709
    UniProtKB/TrEMBL
    A0A080YV01
    Related
    ENSP00000301046.2, ENST00000301046.6
    Conserved Domains (1) summary
    pfam00062
    Location:20138
    Lys; C-type lysozyme/alpha-lactalbumin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    48567684..48571883 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719395.4XP_006719458.1  alpha-lactalbumin isoform X1

    Conserved Domains (1) summary
    pfam00062
    Location:27145
    Lys; C-type lysozyme/alpha-lactalbumin family
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