Human Gene LSAMP (uc003ebs.3)
  Description: Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA.
RefSeq Summary (NM_002338): This gene encodes a member of the immunoglobulin LAMP, OBCAM and neurotrimin (IgLON) family of proteins. The encoded preproprotein is proteolytically processed to generate a neuronal surface glycoprotein. This protein may act as a selective homophilic adhesion molecule during axon guidance and neuronal growth in the developing limbic system. The encoded protein may also function as a tumor suppressor and may play a role in neuropsychiatric disorders. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016].
Transcript (Including UTRs)
   Position: hg19 chr3:115,521,210-116,164,385 Size: 643,176 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr3:115,529,164-116,163,878 Size: 634,715 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:115,521,210-116,164,385)mRNA (may differ from genome)Protein (338 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDHuman Cortex Gene ExpressionLynxMGI
neXtProtOMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LSAMP_HUMAN
DESCRIPTION: RecName: Full=Limbic system-associated membrane protein; Short=LSAMP; AltName: Full=IgLON family member 3; Flags: Precursor;
FUNCTION: Mediates selective neuronal growth and axon targeting. Contributes to the guidance of developing axons and remodeling of mature circuits in the limbic system. Essential for normal growth of the hyppocampal mossy fiber projection (By similarity).
INTERACTION: Q7Z3B1:NEGR1; NbExp=2; IntAct=EBI-4314821, EBI-4314838; Q9P121:NTM; NbExp=2; IntAct=EBI-4314821, EBI-4315078;
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
TISSUE SPECIFICITY: Expressed on limbic neurons and fiber tracts as well as in single layers of the superior colliculus, spinal chord and cerebellum.
SIMILARITY: Belongs to the immunoglobulin superfamily. IgLON family.
SIMILARITY: Contains 3 Ig-like C2-type (immunoglobulin-like) domains.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): LSAMP
CDC HuGE Published Literature: LSAMP
Positive Disease Associations: Arteries , Mental Competency
Related Studies:
  1. Arteries
    , , . [PubMed 0]
  2. Mental Competency
    Kathryn L Lunetta et al. BMC medical genetics 2007, Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study., BMC medical genetics. [PubMed 17903295]
    Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are proposed as contributing to longevity and healthy aging.

-  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: 23.04 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 293.74 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 -204.00507-0.402 Picture PostScript Text
3' UTR -2234.477954-0.281 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
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003599 - Ig_sub
IPR003598 - Ig_sub2

Pfam Domains:
PF00047 - Immunoglobulin domain
PF07679 - Immunoglobulin I-set domain
PF07686 - Immunoglobulin V-set domain
PF13895 - Immunoglobulin domain
PF13927 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin

ModBase Predicted Comparative 3D Structure on Q13449
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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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0007155 cell adhesion
GO:0007399 nervous system development
GO:0035641 locomotory exploration behavior

Cellular Component:
GO:0005576 extracellular region
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031225 anchored component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK299851 - Homo sapiens cDNA FLJ54658 complete cds, highly similar to Limbic system-associated membrane protein precursor.
BC033803 - Homo sapiens limbic system-associated membrane protein, mRNA (cDNA clone MGC:45341 IMAGE:5188760), complete cds.
U41901 - Human limbic system-associated membrane protein LAMP mRNA, complete cds.
AK315286 - Homo sapiens cDNA, FLJ96301, highly similar to Homo sapiens limbic system-associated membrane protein (LSAMP),mRNA.
DQ892099 - Synthetic construct clone IMAGE:100004729; FLH183014.01X; RZPDo839E10140D limbic system-associated membrane protein (LSAMP) gene, encodes complete protein.
DQ895292 - Synthetic construct Homo sapiens clone IMAGE:100009752; FLH183010.01L; RZPDo839E10139D limbic system-associated membrane protein (LSAMP) gene, encodes complete protein.
BC041405 - Homo sapiens cDNA clone IMAGE:5284125.
BC045591 - Homo sapiens cDNA clone IMAGE:5278074.
AK092715 - Homo sapiens cDNA FLJ35396 fis, clone SKNSH2003483.
AK091573 - Homo sapiens cDNA FLJ34254 fis, clone FCBBF5000325.
AK094535 - Homo sapiens cDNA FLJ37216 fis, clone BRALZ2008696.
JD563392 - Sequence 544416 from Patent EP1572962.
JD510089 - Sequence 491113 from Patent EP1572962.
JD339450 - Sequence 320474 from Patent EP1572962.
JD073878 - Sequence 54902 from Patent EP1572962.
JD468962 - Sequence 449986 from Patent EP1572962.
JD499394 - Sequence 480418 from Patent EP1572962.
JD115209 - Sequence 96233 from Patent EP1572962.
JD359107 - Sequence 340131 from Patent EP1572962.
JD428722 - Sequence 409746 from Patent EP1572962.
JD312417 - Sequence 293441 from Patent EP1572962.
JD488069 - Sequence 469093 from Patent EP1572962.
JD304921 - Sequence 285945 from Patent EP1572962.
JD278902 - Sequence 259926 from Patent EP1572962.
JD521453 - Sequence 502477 from Patent EP1572962.
JD130275 - Sequence 111299 from Patent EP1572962.
JD355641 - Sequence 336665 from Patent EP1572962.
JD426300 - Sequence 407324 from Patent EP1572962.
JD119841 - Sequence 100865 from Patent EP1572962.
EF491802 - Homo sapiens clone LSAMP mRNA, partial sequence; alternatively spliced.
BC022345 - Homo sapiens, Similar to limbic system-associated membrane protein, clone IMAGE:4249965, mRNA.
AK311120 - Homo sapiens cDNA, FLJ18162.

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

Protein Q13449 (Reactome details) participates in the following event(s):

R-HSA-8940388 GPLD1 hydrolyses GPI-anchors from proteins
R-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: IGLON3, LAMP, LSAMP_HUMAN, NM_002338, NP_002329, Q13449, Q8IV49
UCSC ID: uc003ebs.3
RefSeq Accession: NM_002338
Protein: Q13449 (aka LSAMP_HUMAN or LAMP_HUMAN)
CCDS: CCDS2982.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002338.3
exon count: 7CDS single in 3' UTR: no RNA size: 9478
ORF size: 1017CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2049.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.