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Aliases for KIAA1715 Gene

Aliases for KIAA1715 Gene

  • KIAA1715 2 3
  • Limb And Neural Patterns 2 3
  • Lunapark 2 3
  • LNP 3 4
  • Protein Lunapark 3
  • 2310011O18Rik 3
  • 4921514L11Rik 3
  • Ulnaless 3
  • LNP1 3
  • LNP, 6
  • Ul 3

External Ids for KIAA1715 Gene

Summaries for KIAA1715 Gene

GeneCards Summary for KIAA1715 Gene

KIAA1715 (KIAA1715) is a Protein Coding gene.

UniProtKB/Swiss-Prot for KIAA1715 Gene

  • Plays a role in tubular endoplasmic reticulum network formation and maintenance. May be involved in limb and central nervous system development.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIAA1715 Gene

Genomics for KIAA1715 Gene

Genomic Location for KIAA1715 Gene

Start:
175,923,892 bp from pter
End:
176,002,839 bp from pter
Size:
78,948 bases
Orientation:
Minus strand

Genomic View for KIAA1715 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KIAA1715 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIAA1715 Gene

Regulatory Elements for KIAA1715 Gene

Proteins for KIAA1715 Gene

  • Protein details for KIAA1715 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0E8-LNP_HUMAN
    Recommended name:
    Protein lunapark
    Protein Accession:
    Q9C0E8
    Secondary Accessions:
    • B7ZLA8
    • Q2M2V8
    • Q2YD99
    • Q658W8
    • Q8N5V9
    • Q96MS5

    Protein attributes for KIAA1715 Gene

    Size:
    428 amino acids
    Molecular mass:
    47740 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB21806.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for KIAA1715 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIAA1715 Gene

Proteomics data for KIAA1715 Gene at MOPED

Post-translational modifications for KIAA1715 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KIAA1715 Gene

Domains for KIAA1715 Gene

Protein Domains for KIAA1715 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

LNP_HUMAN
Family:
  • Belongs to the lunapark family.:
    • Q9C0E8
genes like me logo Genes that share domains with KIAA1715: view

No data available for Gene Families for KIAA1715 Gene

Function for KIAA1715 Gene

Molecular function for KIAA1715 Gene

UniProtKB/Swiss-Prot Function: Plays a role in tubular endoplasmic reticulum network formation and maintenance. May be involved in limb and central nervous system development.

Gene Ontology (GO) - Molecular Function for KIAA1715 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with KIAA1715: view
genes like me logo Genes that share phenotypes with KIAA1715: view

miRNA for KIAA1715 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for KIAA1715 Gene

Localization for KIAA1715 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIAA1715 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Localizes to three-way ER tubule junctions.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIAA1715 Gene COMPARTMENTS Subcellular localization image for KIAA1715 gene
Compartment Confidence
plasma membrane 3
extracellular 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KIAA1715 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IDA 24223779
GO:0016021 integral component of membrane NAS 12732147
GO:0071782 endoplasmic reticulum tubular network IBA --
genes like me logo Genes that share ontologies with KIAA1715: view

Pathways for KIAA1715 Gene

SuperPathways for KIAA1715 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KIAA1715 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007596 blood coagulation IEA --
GO:0032330 regulation of chondrocyte differentiation IEA --
GO:0035115 embryonic forelimb morphogenesis IEA --
GO:0042733 embryonic digit morphogenesis IEA --
GO:0060173 limb development NAS 12732147
genes like me logo Genes that share ontologies with KIAA1715: view

No data available for Pathways by source for KIAA1715 Gene

Transcripts for KIAA1715 Gene

Unigene Clusters for KIAA1715 Gene

KIAA1715:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1715 Gene

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

Relevant External Links for KIAA1715 Gene

GeneLoc Exon Structure for
KIAA1715
ECgene alternative splicing isoforms for
KIAA1715

Expression for KIAA1715 Gene

mRNA expression in normal human tissues for KIAA1715 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KIAA1715 Gene

SOURCE GeneReport for Unigene cluster for KIAA1715 Gene Hs.209561

genes like me logo Genes that share expressions with KIAA1715: view

Orthologs for KIAA1715 Gene

This gene was present in the common ancestor of animals.

Orthologs for KIAA1715 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1715 36
  • 99.61 (n)
  • 99.13 (a)
KIAA1715 37
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA1715 36
  • 90.61 (n)
  • 88.5 (a)
KIAA1715 37
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA1715 36
  • 92.81 (n)
  • 90.28 (a)
KIAA1715 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lnp 36
  • 88.73 (n)
  • 85.34 (a)
Lnp 16
Lnp 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 67 (a)
OneToMany
-- 37
  • 80 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1715 37
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lnp 36
  • 90.85 (n)
  • 90.75 (a)
chicken
(Gallus gallus)
Aves KIAA1715 36
  • 76.1 (n)
  • 75.66 (a)
KIAA1715 37
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA1715 37
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.23923 36
tropical clawed frog
(Silurana tropicalis)
Amphibia kiaa1715 36
  • 69.66 (n)
  • 66.01 (a)
Str.3943 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4759 36
zebrafish
(Danio rerio)
Actinopterygii lnp 36
lnpa 36
  • 63.09 (n)
  • 64.67 (a)
lnpa 37
  • 51 (a)
OneToMany
lnpb 37
  • 56 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007983 36
  • 48.23 (n)
  • 43.38 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8735 36
  • 44.48 (n)
  • 36.9 (a)
CG8735 37
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lnp-1 36
  • 42.93 (n)
  • 34.32 (a)
lnp-1 37
  • 27 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14484 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8149 37
  • 40 (a)
OneToOne
Species with no ortholog for KIAA1715:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KIAA1715 Gene

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

Paralogs for KIAA1715 Gene

Selected SIMAP similar genes for KIAA1715 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with KIAA1715: view

No data available for Paralogs for KIAA1715 Gene

Variants for KIAA1715 Gene

Sequence variations from dbSNP and Humsavar for KIAA1715 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs747051 -- 176,002,403(-) CCTAA(C/T)CTCCC upstream-variant-2KB, intron-variant
rs819031 -- 175,983,889(+) CACCT(C/T)GACCT intron-variant
rs819032 -- 175,983,980(+) gaaaa(C/T)cttca intron-variant
rs819033 -- 175,985,716(+) tatag(C/G)gattt intron-variant
rs819034 -- 175,976,862(-) tccca(A/G)gatct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIAA1715 Gene

Variant ID Type Subtype PubMed ID
nsv521343 CNV Loss 19592680
nsv875436 CNV Loss 21882294
nsv508120 CNV Loss 20534489

Relevant External Links for KIAA1715 Gene

HapMap Linkage Disequilibrium report
KIAA1715

Disorders for KIAA1715 Gene

Relevant External Links for KIAA1715

Genetic Association Database (GAD)
KIAA1715
genes like me logo Genes that share disorders with KIAA1715: view

No data available for UniProtKB/Swiss-Prot for KIAA1715 Gene

Publications for KIAA1715 Gene

  1. ER network formation requires a balance of the dynamin-like GTPase Sey1p and the Lunapark family member Lnp1p. (PMID: 22729086) Chen S. … Ferro-Novick S. (Nat. Cell Biol. 2012) 2 3 4
  2. 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. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3

Products for KIAA1715 Gene

Sources for KIAA1715 Gene

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