Human Gene LAD1 (ENST00000391967.7_11) from GENCODE V47lift37
  Description: ladinin 1 (from RefSeq NM_005558.4)
Gencode Transcript: ENST00000391967.7_11
Gencode Gene: ENSG00000159166.15_17
Transcript (Including UTRs)
   Position: hg19 chr1:201,349,961-201,368,452 Size: 18,492 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr1:201,351,016-201,368,434 Size: 17,419 Coding Exon Count: 10 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:201,349,961-201,368,452)mRNA (may differ from genome)Protein (517 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LAD1_HUMAN
DESCRIPTION: RecName: Full=Ladinin-1; Short=Lad-1; AltName: Full=Linear IgA disease antigen; Short=LADA;
FUNCTION: Anchoring filament protein which is a component of the basement membrane zone (By similarity).
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane (By similarity).
SEQUENCE CAUTION: Sequence=AAD10849.1; Type=Erroneous gene model prediction;

-  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: LAD1
Diseases sorted by gene-association score: linear iga disease (13), epidermolysis bullosa, junctional, non-herlitz type (3), diabetes mellitus, insulin-dependent, 18 (3), diabetes mellitus, insulin-dependent (1), diabetes mellitus, insulin-dependent, 5 (1), glucose metabolism disease (1), leukocyte adhesion deficiency, type iii (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: 167.17 RPKM in Esophagus - Mucosa
Total median expression: 697.66 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 -6.3018-0.350 Picture PostScript Text
3' UTR -355.201055-0.337 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
IPR017404 - Ladinin_1

ModBase Predicted Comparative 3D Structure on O00515
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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    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0045296 cadherin binding

Cellular Component:
GO:0005576 extracellular region
GO:0005604 basement membrane
GO:0015629 actin cytoskeleton
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC009742 - Homo sapiens ladinin 1, mRNA (cDNA clone MGC:10355 IMAGE:3842503), complete cds.
JD546397 - Sequence 527421 from Patent EP1572962.
JD126883 - Sequence 107907 from Patent EP1572962.
JD554702 - Sequence 535726 from Patent EP1572962.
JD226966 - Sequence 207990 from Patent EP1572962.
JD145780 - Sequence 126804 from Patent EP1572962.
JD477747 - Sequence 458771 from Patent EP1572962.
JD137304 - Sequence 118328 from Patent EP1572962.
BX647307 - Homo sapiens mRNA; cDNA DKFZp686M21196 (from clone DKFZp686M21196).
BC071890 - Homo sapiens ladinin 1, mRNA (cDNA clone MGC:88569 IMAGE:6082757), complete cds.
U42408 - Human ladinin (LAD) mRNA, complete cds.
JD455244 - Sequence 436268 from Patent EP1572962.
JD401120 - Sequence 382144 from Patent EP1572962.
JD295144 - Sequence 276168 from Patent EP1572962.
JD400310 - Sequence 381334 from Patent EP1572962.
JD390196 - Sequence 371220 from Patent EP1572962.
JD162393 - Sequence 143417 from Patent EP1572962.
JD140564 - Sequence 121588 from Patent EP1572962.
JD544098 - Sequence 525122 from Patent EP1572962.
JD320687 - Sequence 301711 from Patent EP1572962.
JD421654 - Sequence 402678 from Patent EP1572962.
JD391336 - Sequence 372360 from Patent EP1572962.
JD146993 - Sequence 128017 from Patent EP1572962.
JD524175 - Sequence 505199 from Patent EP1572962.
JD324780 - Sequence 305804 from Patent EP1572962.
JD078503 - Sequence 59527 from Patent EP1572962.
JD228788 - Sequence 209812 from Patent EP1572962.
JD369521 - Sequence 350545 from Patent EP1572962.
JD317132 - Sequence 298156 from Patent EP1572962.
JD175162 - Sequence 156186 from Patent EP1572962.
JD154190 - Sequence 135214 from Patent EP1572962.
JD117647 - Sequence 98671 from Patent EP1572962.
JD426406 - Sequence 407430 from Patent EP1572962.
JD565135 - Sequence 546159 from Patent EP1572962.
JD118908 - Sequence 99932 from Patent EP1572962.
JD126863 - Sequence 107887 from Patent EP1572962.
JD043008 - Sequence 24032 from Patent EP1572962.
DQ893656 - Synthetic construct clone IMAGE:100006286; FLH187831.01X; RZPDo839D07150D ladinin 1 (LAD1) gene, encodes complete protein.
DQ895808 - Synthetic construct Homo sapiens clone IMAGE:100010268; FLH187827.01L; RZPDo839D07149D ladinin 1 (LAD1) gene, encodes complete protein.
AK313388 - Homo sapiens cDNA, FLJ93921, Homo sapiens ladinin 1 (LAD1), mRNA.
AK310917 - Homo sapiens cDNA, FLJ17959.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000391967.1, ENST00000391967.2, ENST00000391967.3, ENST00000391967.4, ENST00000391967.5, ENST00000391967.6, LAD, LAD1_HUMAN, NM_005558, O00515, O95614, Q96GD8, uc318usu.1, uc318usu.2
UCSC ID: ENST00000391967.7_11
RefSeq Accession: NM_005558.4
Protein: O00515 (aka LAD1_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.