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    LALBA lactalbumin alpha [ Homo sapiens (human) ]

    Gene ID: 3906, updated on 5-Aug-2018

    Summary

    Official Symbol
    LALBAprovided by HGNC
    Official Full Name
    lactalbumin alphaprovided by HGNC
    Primary source
    HGNC:HGNC:6480
    See related
    Ensembl:ENSG00000167531 MIM:149750; Vega:OTTHUMG00000170391
    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 current GRCh38.p12 (GCF_000001405.38) 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat'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, OTTHUMP00000243652, ENST00000301046.6, OTTHUMT00000408836
      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.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 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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