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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KIAA1715 Gene

protein-coding   GIFtS: 46
GCID: GC02M176788

KIAA1715

 Explore 1 disease affiliated with
KIAA1715 via our new
 Human Malady Compendium 
Biological research products
for KIAA1715
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
KIAA17151 2     2310011O18Rik2
Ul1 2     4921514L11Rik2
Ulnaless1     Lunapark2
LNP2 5     Protein Lunapark2

External Ids:    HGNC: 216101   Entrez Gene: 808562   Ensembl: ENSG000001443207   OMIM: 6102365   UniProtKB: Q9C0E83   

Export aliases for KIAA1715 gene to outside databases

Previous GC identifers: GC02M174842 GC02M175451 GC02M176995 GC02M176992 GC02M176615 GC02M176496 GC02M168667


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: LNP_HUMAN, Q9C0E8
Function: May be involved in limb and central nervous system development (By similarity)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA1715 gene promoter:
         HOXA9   GATA-3   Pax-5   FOXD3   HNF-3beta   GATA-2   GATA-1   C/EBPalpha   Meis-1a   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIAA1715 promoter sequence
   Search SABiosciences Chromatin IP Primers for KIAA1715

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1715


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

Entrez Gene cytogenetic band: 2q31   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31

KIAA1715 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1715 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M176788:  view genomic region     (about GC identifiers)

Start:
176,788,620 bp from pter      End:
176,867,567 bp from pter
Size:
78,948 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LNP_HUMAN, Q9C0E8 (See protein sequence)
Recommended Name: Protein lunapark  
Size: 428 amino acids; 47740 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=BAB21806.1; Type=Erroneous initiation;
Secondary accessions: Q2M2V8 Q2YD99 Q658W8 Q8N5V9 Q96MS5
Alternative splicing: 3 isoforms:  Q9C0E8-1   Q9C0E8-2   Q9C0E8-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIAA1715: NX_Q9C0E8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9C0E8

  • KIAA1715 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_085153.1  
    ENSEMBL proteins: 
     ENSP00000272748   ENSP00000386237   ENSP00000388507   ENSP00000376323   ENSP00000388262  
     ENSP00000440905   ENSP00000445464  

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    Uscn Proteins for KIAA1715

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane NAS12732147


    KIAA1715 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    KIAA1715 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR019273 DUF2296

    Graphical View of Domain Structure for InterPro Entry Q9C0E8

    ProtoNet protein and cluster: Q9C0E8

    UniProtKB/Swiss-Prot: LNP_HUMAN, Q9C0E8
    Similarity: Belongs to the lunapark family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: LNP_HUMAN, Q9C0E8
    Function: May be involved in limb and central nervous system development (By similarity)

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    Animal Models:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Lnp):
     homeostasis/metabolism  limbs/digits/tail  mortality/aging  reproductive system  skeleton 

    KIAA1715 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIAA1715

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for KIAA1715 (Q9C0E81, 3 ENSP000002727484) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHMP1AQ9HD421, 3, ENSP000002534754EBI-1047206,EBI-1057156 I2D: score=2 STRING: ENSP00000253475
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    --A6NG323I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007596blood coagulation IEA--
    GO:0035115embryonic forelimb morphogenesis IEA--
    GO:0042733embryonic digit morphogenesis IEA--
    GO:0060173limb development NAS12732147


    KIAA1715 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KIAA1715
    Search CenterWatch for drugs/clinical trials and news about KIAA1715 / LNP 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KIAA1715 gene: 
    NM_030650.1  

    Unigene Cluster for KIAA1715:

    KIAA1715
    Hs.209561  [show with all ESTs]
    Unigene Representative Sequence: CR936742
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000272748(uc002ukc.1 uc010zer.1 uc010fqw.1 uc010zes.1 uc002ukd.1 uc010zet.1)
    ENST00000409660 ENST00000479012 ENST00000475515 ENST00000431754 ENST00000489827
    ENST00000480788 ENST00000392540 ENST00000483230 ENST00000445472 ENST00000466445
    ENST00000544803 ENST00000535310

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    8/59 QIAGEN miScript miRNA Assays for microRNAs that regulate KIAA1715 (see all 59):
    hsa-miR-124* hsa-miR-3685 hsa-miR-607 hsa-miR-4307 hsa-miR-328 hsa-miR-200a hsa-miR-30d hsa-miR-3921
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    Additional cDNA sequence: 

    AB051502.1 AK056532.1 AK096916.1 AK301947.1 AK302833.1 AL832947.1 BC031530.1 BC064661.1 
    BC105132.1 BC105134.1 BC110329.1 BC143681.1 BC143683.1 CR936742.1 

    7 DOTS entries:

    DT.210972  DT.95269096  DT.99984350  DT.120945279  DT.120945317  DT.75121937  DT.100798083 

    24/134 AceView cDNA sequences (see all 134):

    N66911 BG389124 CB130256 AW502057 CF142475 BM700102 AA808150 AI057618 
    AL133768 AA321071 AI814567 AI274480 BQ009330 AA744541 AA252972 BQ637099 
    Z38638 AI299887 BC031530 BU616609 NM_030650 AL045627 AA482636 AA886876 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1715    About this scheme

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


    ECgene alternative splicing isoforms for KIAA1715

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KIAA1715 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTGCCTTCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    KIAA1715 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    White adipocyte-like cells (Differentiation of ...)Adipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See KIAA1715 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1715

    SOURCE GeneReport for Unigene cluster: Hs.209561
        SABiosciences Custom PCR Arrays for KIAA1715
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    In Situ
    Assay Products:
     

     
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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for KIAA1715 gene from 9/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lnp1 , 5 limb and neural patterns1, 5 89.13(n)1
    86.05(a)1
      2 (44.13 cM)5
    696051  NM_027133.31  NP_081409.11 
     745202915 
    chicken
    (Gallus gallus)
    Aves KIAA17151 KIAA1715 74.85(n)
    73.16(a)
      424141  XM_421991.3  XP_421991.2 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA17156
    --
    76(a)
    1 ↔ 1
    GL343356.1(794540-803649)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.239232 Xenopus laevis transcribed sequence with weak similarity more 75.89(n)    CA788333.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lnp2 limb and neural patterns 72.96(n)   326761  AY423028.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87351 CG8735 44.32(n)
    35.46(a)
      35842  NM_136551.2  NP_610395.1 
    worm
    (Caenorhabditis elegans)
    Secernentea lnp-11 Protein LNP-1 44.28(n)
    34.94(a)
      180731  NM_076387.3  NP_508788.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G243306
    AT4G310806
    uncharacterized protein
    17(a)
    16(a)
    many → 1
    many → 1
    2(10347160-10349825)
    4(15120888-15123486)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 3)
    expressed protein
    (see all 3)
    17(a)
    16(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    2(25225778-25233405)
    4(34157440-34160556)


    ENSEMBL Gene Tree for KIAA1715 (if available)
    TreeFam Gene Tree for KIAA1715 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1210 NCBI SNPs in KIAA1715 are shown (see all 1210    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1398239751,2
    --176789949(+) ACTGTA/GTGTCT 1 -- ds50010--------
    rs1874215241,2
    --176789981(+) TGAGAA/GATAGC 1 -- ds50010--------
    rs1497991651,2
    --176790033(+) AATTTC/GCAAAC 1 -- ds50010--------
    rs1923614051,2
    --176790067(+) CAATTA/CAATTA 1 -- ds50010--------
    rs1838092311,2
    --176790102(+) CCAATA/GTCTAT 1 -- ds50010--------
    rs1879843731,2
    --176790107(+) GTCTAC/TGTGAG 1 -- ds50010--------
    rs1456866641,2
    --176790120(+) GGAGCA/GTATCT 1 -- ds50010--------
    rs124779701,2
    C,F,A,H,--176790172(+) GACTGT/CATATG 1 -- ds500112Minor allele frequency- C:0.46NS WA NA CSA EA 578
    rs124699091,2
    C,F,A,H,--176790182(+) GCAAAA/GCACAG 1 -- ds50015Minor allele frequency- G:0.09NA EA 246
    rs1474159421,2
    --176790246(+) TGGCT-/GGGG  
            
    GTAGT
    1 -- ds50010--------

    HapMap Linkage Disequilibrium report for KIAA1715 (176788620 - 176867567 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for KIAA1715: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KIAA1715
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA1715

    (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.)
    About This Section

    KIAA1715 for disorders           About GeneDecksing

    OMIM gene information: 610236    OMIM disorders: --

    1 disease for KIAA1715:    About MalaCards
    neuronitis


    Export disorders for KIAA1715 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)
    About This Section

    PubMed articles for KIAA1715 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with KIAA1715)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2, 3 Nagase T.... Ohara O. (2000)
    2. 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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. ER network formation requires a balance of the dynamin -like GTPase Sey1p and the Lunapark family member Lnp1p. (PubMed id 22729086)1 Chen S....Ferro-Novick S. (2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Strategy for comprehensive identification of human N-myristoylated proteins using an insect cell-free protein synthesis system. (PubMed id 20213681)2 Suzuki T.... Utsumi T. (2010)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    9. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    10. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80856 HGNC: 21610 AceView: KIAA1715 Ensembl:ENSG00000144320 euGenes: HUgn80856
    ECgene: KIAA1715 H-InvDB: KIAA1715

    (According to HUGE)
    About This Section
    HUGE: KIAA1715

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KIAA1715 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KIAA1715 gene:
    Search GeneIP for patents involving KIAA1715

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



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