Human Gene LALBA (ENST00000301046.6_9) from GENCODE V47lift37
  Description: lactalbumin alpha, transcript variant 1 (from RefSeq NM_002289.3)
Gencode Transcript: ENST00000301046.6_9
Gencode Gene: ENSG00000167531.6_9
Transcript (Including UTRs)
   Position: hg19 chr12:48,961,467-48,963,829 Size: 2,363 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr12:48,961,740-48,963,803 Size: 2,064 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:48,961,467-48,963,829)mRNA (may differ from genome)Protein (142 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LALBA_HUMAN
DESCRIPTION: RecName: Full=Alpha-lactalbumin; AltName: Full=Lactose synthase B protein; AltName: Full=Lysozyme-like protein 7; Flags: Precursor;
FUNCTION: Regulatory subunit of lactose synthase, changes the substrate specificity of galactosyltransferase in the mammary gland making glucose a good acceptor substrate for this enzyme. This enables LS to synthesize lactose, the major carbohydrate component of milk. In other tissues, galactosyltransferase transfers galactose onto the N-acetylglucosamine of the oligosaccharide chains in glycoproteins.
SUBUNIT: Lactose synthase (LS) is a heterodimer of a catalytic component, beta1,4-galactosyltransferase (beta4Gal-T1) and a regulatory component, alpha-lactalbumin (LA).
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Mammary gland specific. Secreted in milk.
SIMILARITY: Belongs to the glycosyl hydrolase 22 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: LALBA
Diseases sorted by gene-association score: milk allergy (11), goat milk allergy (6), mastitis (4), allergic hypersensitivity disease (3), cutaneous adenocystic carcinoma (3), celiac disease (2), adenoid basal cell carcinoma (2), breast cystic hypersecretory carcinoma (2), acute thyroiditis (2), lipid-rich carcinoma (2), breast secretory carcinoma (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.15 RPKM in Testis
Total median expression: 1.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -3.6026-0.138 Picture PostScript Text
3' UTR -71.40273-0.262 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001916 - Glyco_hydro_22
IPR019799 - Glyco_hydro_22_CS
IPR000545 - Lactalbumin
IPR023346 - Lysozyme-like_dom

Pfam Domains:
PF00062 - C-type lysozyme/alpha-lactalbumin family

SCOP Domains:
53955 - Lysozyme-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1A4V - X-ray 1B9O - X-ray 1CB3 - NMR 1HML - X-ray MuPIT 3B0I - X-ray MuPIT 3B0O - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P00709
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003796 lysozyme activity
GO:0004461 lactose synthase activity
GO:0005509 calcium ion binding
GO:0046872 metal ion binding

Biological Process:
GO:0005989 lactose biosynthetic process
GO:0006915 apoptotic process
GO:0007165 signal transduction
GO:0007267 cell-cell signaling
GO:0016998 cell wall macromolecule catabolic process
GO:0042742 defense response to bacterium
GO:0050829 defense response to Gram-negative bacterium
GO:0050830 defense response to Gram-positive bacterium

Cellular Component:
GO:0000139 Golgi membrane
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005796 Golgi lumen


-  Descriptions from all associated GenBank mRNAs
  J00270 - Homo sapiens alpha-lactalbumin (LALBA) mRNA, complete cds.
BC069103 - Homo sapiens lactalbumin, alpha-, mRNA (cDNA clone MGC:95379 IMAGE:7216918), complete cds.
JD058768 - Sequence 39792 from Patent EP1572962.
BC112316 - Homo sapiens lactalbumin, alpha-, mRNA (cDNA clone MGC:138521 IMAGE:8327784), complete cds.
BC112318 - Homo sapiens lactalbumin, alpha-, mRNA (cDNA clone MGC:138523 IMAGE:8327786), complete cds.
JD549774 - Sequence 530798 from Patent EP1572962.
JD048942 - Sequence 29966 from Patent EP1572962.
JD322335 - Sequence 303359 from Patent EP1572962.
CR541987 - Homo sapiens full open reading frame cDNA clone RZPDo834D0535D for gene LALBA, lactalbumin, alpha-; complete cds, incl. stopcodon.
HQ258062 - Synthetic construct Homo sapiens clone IMAGE:100072371 lactalbumin, alpha (LALBA) gene, encodes complete protein.
KJ891531 - Synthetic construct Homo sapiens clone ccsbBroadEn_00925 LALBA gene, encodes complete protein.
AB590798 - Synthetic construct DNA, clone: pFN21AE1626, Homo sapiens LALBA gene for lactalbumin, alpha-, without stop codon, in Flexi system.
CR542017 - Homo sapiens full open reading frame cDNA clone RZPDo834F0535D for gene LALBA, lactalbumin, alpha-; complete cds, without stopcodon.
JD374620 - Sequence 355644 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P00709 (Reactome details) participates in the following event(s):

R-HSA-5653886 B4GALT1 binds LALBA
R-HSA-5653878 B4GALT1:LALBA transfers Gal from UDP-Gal to Glc to form Lac
R-HSA-5653890 Lactose synthesis
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000301046.1, ENST00000301046.2, ENST00000301046.3, ENST00000301046.4, ENST00000301046.5, LALBA_HUMAN, LYZL7, NM_002289, P00709, Q6FGX0, Q9UDK4, uc317msk.1, uc317msk.2
UCSC ID: ENST00000301046.6_9
RefSeq Accession: NM_002289.3
Protein: P00709 (aka LALBA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.