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LPHN1 Gene

protein-coding   GIFtS: 60
GCID: GC19M014258

Latrophilin 1

  See LPHN1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Latrophilin 11 2     CL12
Calcium-Independent Alpha-Latrotoxin Receptor 12 3     latrophilin-12
CIRL-12 3     lectomedin-22
LEC22 3     KIAA08213
CIRL12     Lectomedin-23

External Ids:    HGNC: 209731   Entrez Gene: 228592   Ensembl: ENSG000000720717   UniProtKB: O949103   

Export aliases for LPHN1 gene to outside databases

Previous GC identifers: GC19M014105 GC19M014121 GC19M013949 GC19M013857


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LPHN1 Gene:
This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may
function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous
proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in
two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to
the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. Latrophilin-1 has been
shown to recruit the neurotoxin from black widow spider venom, alpha-latrotoxin, to the synapse plasma membrane.
Alternative splicing results in multiple variants encoding distinct isoforms.(provided by RefSeq, Oct 2008)

GeneCards Summary for LPHN1 Gene:
LPHN1 (latrophilin 1) is a protein-coding gene. Diseases associated with LPHN1 include dermatophytosis. GO annotations related to this gene include G-protein coupled receptor activity and cell adhesion molecule binding. An important paralog of this gene is GPR97.

UniProtKB/Swiss-Prot: LPHN1_HUMAN, O94910
Function: Calcium-independent receptor of high affinity for alpha-latrotoxin, an excitatory neurotoxin present in
black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells. Receptor for
TENM2 that mediates heterophilic synaptic cell-cell contact and postsynaptic specialization. Receptor propably
implicated in the regulation of exocytosis (By similarity)

Gene Wiki entry for LPHN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LPHN1 gene promoter:
         CREB   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): LPHN1 promoter sequence
   Search Chromatin IP Primers for LPHN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LPHN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.12   HGNC cytogenetic band: 19p13.2

LPHN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LPHN1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M014258:  view genomic region     (about GC identifiers)

Start:
14,258,549 bp from pter      End:
14,316,999 bp from pter
Size:
58,451 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LPHN1_HUMAN, O94910 (See protein sequence)
Recommended Name: Latrophilin-1 precursor  
Size: 1474 amino acids; 162717 Da
Subunit: Forms a heterodimer, consisting of a large extracellular region (p120) non-covalently linked to a
seven-transmembrane moiety (p85). Interacts with syntaxin and with proteins of the SHANK family via the PDZ
domain (By similarity)
Sequence caution: Sequence=BAA74844.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q96IE7 Q9BU07 Q9HAR3
Alternative splicing: 2 isoforms:  O94910-1   O94910-2   

Explore the universe of human proteins at neXtProt for LPHN1: NX_O94910

Explore proteomics data for LPHN1 at MOPED

Post-translational modifications: 

  • Autoproteolytically cleaved into 2 subunits, an extracellular subunit and a seven-transmembrane subunit. This
    proteolytic processing takes place early in the biosynthetic pathway, either in the endoplasmic reticulum or in
    the early compartment of the Golgi apparatus (By similarity)1
  • Glycosylation2 at Asn98, Asn531, Asn640, Asn742, Asn801, Asn806, Asn827
  • Modification sites at PhosphoSitePlus

  • See LPHN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001008701.1  NP_055736.2  

    ENSEMBL proteins: 
     ENSP00000340688   ENSP00000355328   ENSP00000468197   ENSP00000465453   ENSP00000468711  

    LPHN1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for LPHN1

     
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    Cloud-Clone Corp. ELISAs for LPHN1
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    Search eBioscience for ELISAs for LPHN1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GPCRBO: GPCR / Class B : Orphans

    IUPHAR Guide to PHARMACOLOGY protein family classification: LPHN1
    Adhesion Class GPCRs

    Selected InterPro protein domains (see all 10):
     IPR017983 GPCR_2_secretin-like_CS
     IPR000922 Lectin_gal-bd_dom
     IPR003112 Olfac-like
     IPR001879 GPCR_2_extracellular_dom
     IPR003334 GPCR_2_latrophilin_rcpt_C

    Graphical View of Domain Structure for InterPro Entry O94910

    ProtoNet protein and cluster: O94910

    5 Blocks protein domains:
    IPB000203 GPS domain
    IPB000832 G-protein coupled receptors family 2 (secretin-like)
    IPB000922 D-galactoside/L-rhamnose binding SUEL lectin domain
    IPB003112 Olfactomedin-like
    IPB003924 Latrophilin receptor signature


    UniProtKB/Swiss-Prot: LPHN1_HUMAN, O94910
    Domain: The extracellular domain coupled to the a single transmembrane region are sufficient for full
    responsiveness to alpha-latrotoxin (By similarity)
    Similarity: Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily
    Similarity: Contains 1 GPS domain
    Similarity: Contains 1 olfactomedin-like domain
    Similarity: Contains 1 SUEL-type lectin domain


    Find genes that share domains with LPHN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LPHN1_HUMAN, O94910
    Function: Calcium-independent receptor of high affinity for alpha-latrotoxin, an excitatory neurotoxin present in
    black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells. Receptor for
    TENM2 that mediates heterophilic synaptic cell-cell contact and postsynaptic specialization. Receptor propably
    implicated in the regulation of exocytosis (By similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity ----
    GO:0004930G-protein coupled receptor activity IEA--
    GO:0005515protein binding IPI--
    GO:0016524latrotoxin receptor activity ISS--
    GO:0030246carbohydrate binding IEA--
         
    Find genes that share ontologies with LPHN1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for LPHN1:
     Increased circadian period len  Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Lphn1):
     behavior/neurological  nervous system 

    Find genes that share phenotypes with LPHN1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Lphn1tm1Sud for LPHN1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LPHN1
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    miRTarBase miRNAs that target LPHN1:
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    Block miRNA regulation of human, mouse, rat LPHN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LPHN1 (see all 99):
    hsa-miR-3194-5p hsa-miR-1321 hsa-miR-300 hsa-miR-15a hsa-miR-578 hsa-miR-219-5p hsa-miR-3916 hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidLPHN1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for LPHN1
    Predesigned siRNA for gene silencing in human, mouse, rat LPHN1

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    GenScript: all cDNA clones in your preferred vector (see all 2): LPHN1 (NM_001008701)
    Sino Biological Human cDNA Clone for LPHN1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LPHN1_HUMAN, O94910: Cell membrane; Multi-pass membrane protein. Cell projection, axon (By similarity). Cell
    projection, growth cone (By similarity). Cell junction, synapse (By similarity). Cell junction, synapse,
    presynaptic cell membrane (By similarity). Cell junction, synapse, synaptosome (By similarity). Note=Colocalizes
    with TENM2 on the cell surface, across intercellular junctions and on nerve terminals near synaptic clefts (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    golgi apparatus2
    endoplasmic reticulum1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane ISS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0030054cell junction IEA--
    GO:0030424axon ISS--

    Find genes that share ontologies with LPHN1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for LPHN1 About    
    See pathways by source

    SuperPathContained pathways About
    1GPCRs, Class B Secretin-like
    GPCRs, Class B Secretin-like


    1 BioSystems Pathway for LPHN1
        GPCRs, Class B Secretin-like



        Pathway & Disease-focused RT2 Profiler PCR Array including LPHN1: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LPHN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for LPHN1 (O949101, 3 ENSP000003406884) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CACNA1AO005551, 3EBI-3389315,EBI-766279 I2D: score=1 
    DAXXQ9UER73I2D: score=2 
    ENSG00000206206Q9UER73I2D: score=2 
    ENSG00000206279Q9UER73I2D: score=2 
    ENSG00000227046Q9UER73I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007157heterophilic cell-cell adhesion ISS--
    GO:0007166cell surface receptor signaling pathway ----
    GO:0007186G-protein coupled receptor signaling pathway TAS15203201
    GO:0007218neuropeptide signaling pathway IEA--
    GO:0035584calcium-mediated signaling using intracellular calcium source ISS--

    Find genes that share ontologies with LPHN1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LPHN1

    1 HMDB Compound for LPHN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 Novoseek inferred chemical compound relationship for LPHN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpha-latrotoxin 94.7 15 9830014 (8), 10197529 (4), 9799228 (1)



    Find genes that share compounds with LPHN1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LPHN1 gene (2 alternative transcripts): 
    NM_001008701.2  NM_014921.4  

    Unigene Cluster for LPHN1:

    Latrophilin 1
    Hs.94229  [show with all ESTs]
    Unigene Representative Sequence: NM_001008701
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000340736(uc010xnn.2) ENST00000361434(uc010xno.2) ENST00000593005
    ENST00000592164 ENST00000589616 ENST00000588677 ENST00000591528 ENST00000590223

    miRNA
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    Block miRNA regulation of human, mouse, rat LPHN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LPHN1 (see all 99):
    hsa-miR-3194-5p hsa-miR-1321 hsa-miR-300 hsa-miR-15a hsa-miR-578 hsa-miR-219-5p hsa-miR-3916 hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidLPHN1 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat LPHN1

    Additional mRNA sequence: 

    AB020628.1 AF307079.1 AK022001.1 BC002974.1 BC007587.1 BC013275.2 BC019928.1 BC028296.1 
    BC052627.1 BC072445.1 BC090949.1 

    14 DOTS entries:

    DT.208188  DT.412069  DT.121504445  DT.100748884  DT.92438720  DT.92438718  DT.101973574  DT.121504439 
    DT.121504455  DT.92438716  DT.92438722  DT.95158060  DT.97843422  DT.91796909 

    Selected AceView cDNA sequences (see all 249):

    BF057688 BU159643 BC019928 AF307079 BU632717 M85744 BE700092 CA391973 
    NM_014921 BI818780 BM682879 BM692738 BM684985 BM715164 BM665030 BX111745 
    W61295 Z39363 BM977526 BQ189188 F08067 BM695383 AI367139 Z41587 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LPHN1 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^
    SP1:                                -     -                                   -                                                                                 
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                    -     -                                                                                 
    SP5:                                                                                                                                                            

    ExUns: 19a · 19b ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24
    SP1:                                                
    SP2:                                      -         
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for LPHN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LPHN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    LPHN1 Expression
    About this image

    LPHN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LPHN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.94229
        Pathway & Disease-focused RT2 Profiler PCR Array including LPHN1: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LPHN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for LPHN1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lphn11 , 5 latrophilin 11, 5 89.15(n)1
    97.89(a)1
      8 (40.22 cM)5
    3308141  NM_181039.21  NP_851382.21 
     839001055 
    lizard
    (Anolis carolinensis)
    Reptilia LPHN16
    latrophilin 1
    86(a)
    1 ↔ 1
    2(118927379-119032461)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia lphn11 latrophilin 1 72.11(n)
    80.1(a)
      100488304  XM_004918878.1  XP_004918935.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5625311 latrophilin-1-like 70.22(n)
    73.77(a)
      562531  XM_685908.6  XP_691000.6 
    worm
    (Caenorhabditis elegans)
    Secernentea lat-16
    Protein LAT-1, isoform b (lat-1) mRNA, complete cd...
    28(a)
    1 → many
    II(8896841-8908653) WBGene00002251


    ENSEMBL Gene Tree for LPHN1 (if available)
    TreeFam Gene Tree for LPHN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LPHN1 gene
    GPR972  CD972  ELTD12  LPHN22  GPR1142  EMR12  LPHN32  EMR22  
    GPR1332  GPR1122  GPR1442  EMR32  GPR562  GPR1262  GPR642  
    8 SIMAP similar genes for LPHN1 using alignment to 5 protein entries:     LPHN1_HUMAN (see all proteins):
    LPHN3    LPHH1    LPHN2    OLFM1    OLFML2B    MYOC
    OLFM2    FLJ00237

    Find genes that share paralogs with LPHN1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LPHN1 (see all 776)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1818116841,2
    --14282725(+) GGACAC/TGGGCA 2 -- int10--------
    rs1446353001,2
    --14282764(+) ACAGGA/TATGGG 2 -- int10--------
    rs1385465701,2
    --14282860(+) ATCTAA/GCAGGG 2 -- int10--------
    rs745214241,2
    F--14282907(+) GATCTG/ATCTGT 2 -- int11Minor allele frequency- A:0.05WA 118
    rs129717091,2
    C,F,A,H--14282943(+) AAAAAT/CAGAAC 2 -- int118Minor allele frequency- C:0.08NS EA NA CSA 2223
    rs1411487491,2
    --14282959(+) CTGGGC/TGTGGT 2 -- int10--------
    rs1503836111,2
    C--14283021(+) CTGATA/GTCAGA 2 -- int10--------
    rs1863734631,2
    --14283205(+) CTCCAC/GCCTGG 2 -- int10--------
    rs1380783091,2
    --14283380(+) AACCCC/TATCTC 2 -- int10--------
    rs1896094901,2
    C--14283423(+) GGGGCA/GCACCG 2 -- int10--------

    HapMap Linkage Disequilibrium report for LPHN1 (14258549 - 14316999 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for LPHN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2423CNV Insertion18451855
    dgv3741n71CNV Loss21882294
    nsv517436CNV Loss19592680
    dgv49n68CNV Loss17160897
    nsv828452CNV Loss20364138
    dgv3739n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LPHN1
    DNA2.0 Custom Variant and Variant Library Synthesis for LPHN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease for LPHN1:    
    About MalaCards
    dermatophytosis

    1 disease from the University of Copenhagen DISEASES database for LPHN1:
    Dermatophytosis

    Find genes that share disorders with LPHN1           About GenesLikeMe

    Genetic Association Database (GAD): LPHN1

    Export disorders for LPHN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LPHN1 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with LPHN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium. (PubMed id 20400778)1, 4 Morrison A.C....Smith N.L. (Circ Cardiovasc Genet 2010)
    2. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (Anal. Chem. 2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. A family of heptahelical receptors with adhesion-like domains: a marriage between two super families. (PubMed id 10994649)1, 3 Hayflick J.S. (J. Recept. Signal Transduct. Res. 2000)
    5. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T.... Ohara O. (DNA Res. 1998)
    6. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. (PubMed id 21078624)1 Kahle J.J....Zoghbi H.Y. (Hum. Mol. Genet. 2011)
    7. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    8. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (Nat. Methods 2010)
    9. Association of the subunits of the calcium-independent receptor of I+-latrotoxin. (PubMed id 20971062)1 Serova O.V....Deyev I.E. (Biochem. Biophys. Res. Commun. 2010)
    10. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 22859 HGNC: 20973 AceView: LPHN1 Ensembl:ENSG00000072071 euGenes: HUgn22859
    ECgene: LPHN1 H-InvDB: LPHN1

    (According to HUGE)
    About This Section

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    HUGE: KIAA0821

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for LPHN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for LPHN1 gene:
    Search GeneIP for patents involving LPHN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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