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SEC23IP Gene

protein-coding   GIFtS: 55
GCID: GC10P121642

SEC23 Interacting Protein

  See SEC23IP-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
SEC23 Interacting Protein1 2
P1252
P125A2
SEC23-Interacting Protein2
p1253

External Ids:    HGNC: 170181   Entrez Gene: 111962   Ensembl: ENSG000001076517   UniProtKB: Q9Y6Y83   

Export aliases for SEC23IP gene to outside databases

Previous GC identifers: GC10P120895 GC10P121783 GC10P121316 GC10P115281


(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 SEC23IP Gene:
This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is
localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the
multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell
development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects.
Alternatively spliced transcript variants have been observed for this gene. (provided by RefSeq, Feb 2011)

GeneCards Summary for SEC23IP Gene:
SEC23IP (SEC23 interacting protein) is a protein-coding gene. Diseases associated with SEC23IP include nodular malignant melanoma. An important paralog of this gene is DDHD2.

UniProtKB/Swiss-Prot: S23IP_HUMAN, Q9Y6Y8
Function: Plays a role in the organization of endoplasmic reticulum exit sites. Specifically binds to
phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P) and phosphatidylinositol
5-phosphate (PI(5)P)

Gene Wiki entry for SEC23IP 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_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SEC23IP gene promoter:
         AhR   USF1   Sox5   Elk-1   USF2   Arnt   AREB6   Hlf   Ik-1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSEC23IP promoter sequence
   Search Chromatin IP Primers for SEC23IP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEC23IP


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

Entrez Gene cytogenetic band: 10q25-q26   Ensembl cytogenetic band:  10q26.11   HGNC cytogenetic band: 10q26.11-q26.12

SEC23IP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEC23IP gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P121642:  view genomic region     (about GC identifiers)

Start:
121,652,085 bp from pter      End:
121,704,170 bp from pter
Size:
52,086 bases      Orientation:
plus 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: S23IP_HUMAN, Q9Y6Y8 (See protein sequence)
Recommended Name: SEC23-interacting protein  
Size: 1000 amino acids; 111076 Da
Subunit: Interacts with SEC23A
Caution: Although belonging to the PA-PL1 family, does not seem to have any phospholipase activity
Sequence caution: Sequence=AAP35401.1; Type=Frameshift; Positions=471;
Secondary accessions: D3DRD2 Q8IXH5 Q9BUK5
Alternative splicing: 2 isoforms:  Q9Y6Y8-1   Q9Y6Y8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEC23IP: NX_Q9Y6Y8

Explore proteomics data for SEC23IP at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys477, Lys871, Lys938
  • Modification sites at PhosphoSitePlus

  • See SEC23IP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_009121.1  
    ENSEMBL proteins: 
     ENSP00000358071   ENSP00000416723   ENSP00000396906   ENSP00000438773  

    SEC23IP Human Recombinant Protein Products:

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    Novus Biologicals SEC23IP Protein
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SEC23IP

     
    Search eBioscience for Proteins for SEC23IP 

    SEC23IP Antibody Products:

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    Abcam antibodies for SEC23IP
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    LSBio Antibodies in human, mouse, rat for SEC23IP

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    Search eBioscience for ELISAs for SEC23IP 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SAMD: Sterile alpha motif (SAM) domain containing

    4 InterPro protein domains:
     IPR021129 SAM_type1
     IPR004177 DDHD
     IPR013761 SAM/pointed
     IPR001660 SAM

    Graphical View of Domain Structure for InterPro Entry Q9Y6Y8

    ProtoNet protein and cluster: Q9Y6Y8

    1 Blocks protein domain: IPB001660 Sterile alpha motif SAM

    UniProtKB/Swiss-Prot: S23IP_HUMAN, Q9Y6Y8
    Similarity: Belongs to the PA-PLA1 family
    Similarity: Contains 1 DDHD domain
    Similarity: Contains 1 SAM (sterile alpha motif) domain


    Find genes that share domains with SEC23IP           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: S23IP_HUMAN, Q9Y6Y8
    Function: Plays a role in the organization of endoplasmic reticulum exit sites. Specifically binds to
    phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P) and phosphatidylinositol
    5-phosphate (PI(5)P)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0044822poly(A) RNA binding IDA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with SEC23IP           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for SEC23IP:
     Decreased cilium length  Decreased cilium length after  

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sec23ip):
     no phenotypic analysis  reproductive system 

    Find genes that share phenotypes with SEC23IP           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Sec23iptm1.1Katn for SEC23IP

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEC23IP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SEC23IP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SEC23IP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SEC23IP

    miRNA
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    miRTarBase miRNAs that target SEC23IP:
    hsa-mir-324-5p (MIRT043062), hsa-let-7e-5p (MIRT051660), hsa-mir-93-5p (MIRT048762), hsa-mir-9-5p (MIRT021371), hsa-mir-149-5p (MIRT045496), hsa-mir-1 (MIRT001336)

    Block miRNA regulation of human, mouse, rat SEC23IP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEC23IP (see all 65):
    hsa-miR-411* hsa-miR-549 hsa-miR-607 hsa-miR-146a hsa-miR-485-3p hsa-miR-30d hsa-miR-374a hsa-miR-10b*
    SwitchGear 3'UTR luciferase reporter plasmidSEC23IP 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    OriGene ORF clones in mouse, rat for SEC23IP
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    GenScript: all cDNA clones in your preferred vector: SEC23IP (NM_007190)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEC23IP

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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
    S23IP_HUMAN, Q9Y6Y8: Cytoplasmic vesicle, COPII-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic
    side. Endoplasmic reticulum (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    cytosol3
    nucleus3

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS10400679
    GO:0005783endoplasmic reticulum IEA--
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment TAS10400679
    GO:0012507ER to Golgi transport vesicle membrane IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    Find genes that share ontologies with SEC23IP           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SEC23IP
    Interactions:

        GeneGlobe Interaction Network for SEC23IP

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

    Selected Interacting proteins for SEC23IP (Q9Y6Y83 ENSP000003580714) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCNAP120043, ENSP000003684384I2D: score=2 STRING: ENSP00000368438
    POLD4Q9HCU83, ENSP000003113684I2D: score=2 STRING: ENSP00000311368
    CLK1P497593I2D: score=1 
    IP6K3Q96PC23I2D: score=1 
    ITGB2P051073I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport TAS10400679
    GO:0007030Golgi organization TAS10400679

    Find genes that share ontologies with SEC23IP           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 SEC23IP (S23IP)

    3 Novoseek inferred chemical compound relationships for SEC23IP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prostaglandin f2alpha 59.5 1 10893233 (1)
    tyrosine 54 13 8314789 (2), 10585482 (1), 15174097 (1), 10652210 (1) (see all 10)
    calcium 20 2 8666584 (1)



    Find genes that share compounds with SEC23IP           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 SEC23IP gene: 
    NM_007190.3  

    Unigene Cluster for SEC23IP:

    SEC23 interacting protein
    Hs.435004  [show with all ESTs]
    Unigene Representative Sequence: NM_007190
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369075(uc001leu.2 uc010qtc.2 uc009xzk.2) ENST00000470478
    ENST00000442952 ENST00000446561 ENST00000462222 ENST00000475542 ENST00000483890
    ENST00000543134
    miRNA
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    Block miRNA regulation of human, mouse, rat SEC23IP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEC23IP (see all 65):
    hsa-miR-411* hsa-miR-549 hsa-miR-607 hsa-miR-146a hsa-miR-485-3p hsa-miR-30d hsa-miR-374a hsa-miR-10b*
    SwitchGear 3'UTR luciferase reporter plasmidSEC23IP 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: SEC23IP (NM_007190)
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      QuantiTect SYBR Green Assays in human, mouse, rat SEC23IP
      QuantiFast Probe-based Assays in human, mouse, rat SEC23IP

    Additional mRNA sequence: 

    AB019435.1 AK000698.1 AK001135.1 AK021846.1 AK023238.1 AK301517.1 AK307286.1 AK314592.1 
    AL832521.1 BC002540.2 BC063800.1 BT006755.1 BX649119.1 NR_037771.1 

    21 DOTS entries:

    DT.214789  DT.100820547  DT.100820548  DT.95228347  DT.100820545  DT.40126195  DT.100820546  DT.121268561 
    DT.40122871  DT.40274000  DT.95228354  DT.121268558  DT.91752409  DT.100729609  DT.95126966  DT.95198651 
    DT.121268437  DT.121268550  DT.95358898  DT.97861929  DT.92058583 

    Selected AceView cDNA sequences (see all 311):

    AW178313 AW178481 BC002540 AI332962 AW387459 BU628561 AA854300 CA427409 
    AW178375 AW387377 AA332185 BQ015109 AU120650 AA287181 AI378639 BM787005 
    AF116723 BC063800 BG152828 BM468568 CF137351 AI123092 CB988321 AA410231 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SEC23IP (see all 14)    About this scheme

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

    ExUns: 16b · 16c ^ 17a · 17b ^ 18a · 18b · 18c · 18d ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c · 21d
    SP1:              -                             -                                             
    SP2:              -                                                                           
    SP3:              -                                                                           
    SP4:  -     -     -                             -                                             
    SP5:              -                             -                                             


    ECgene alternative splicing isoforms for SEC23IP

    (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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    SEC23IP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAATTTTTG
    SEC23IP Expression
    About this image

    SEC23IP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEC23IP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.435004

    UniProtKB/Swiss-Prot: S23IP_HUMAN, Q9Y6Y8
    Tissue specificity: Ubiquitously expressed with stronger levels detected in heart, liver and skeletal muscle

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC23IP

    (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 and fungi.

    Orthologs for SEC23IP gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sec23ip1 , 5 Sec23 interacting protein1, 5 84.1(n)1
    85.74(a)1
      7 (70.51 cM)5
    2073521  NM_001029982.21  NP_001025153.21 
     1287448705 
    chicken
    (Gallus gallus)
    Aves SEC23IP1 SEC23 interacting protein 74.28(n)
    75.93(a)
      423934  XM_421794.4  XP_421794.4 
    lizard
    (Anolis carolinensis)
    Reptilia SEC23IP6
    SEC23 interacting protein
    72(a)
    1 ↔ 1
    3(66131015-66170633)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.174542 Xenopus laevis transcribed sequence with weak similarity more 74.47(n)    BJ619249.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sec23ip1 SEC23 interacting protein 64.47(n)
    67.09(a)
      560750  NM_001077379.1  NP_001070847.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG85526
    --
    16(a)
    1 → many
    2L(8134247-8159575)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes --
    Protein with similarity to bovine phospholipase A1...
    16(a)
    1 → many
    XV(373710-375857) YOR022C


    ENSEMBL Gene Tree for SEC23IP (if available)
    TreeFam Gene Tree for SEC23IP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEC23IP gene
    DDHD22  DDHD12  
    1 SIMAP similar gene for SEC23IP using alignment to 4 protein entries:     S23IP_HUMAN (see all proteins):
    DDHD2

    Find genes that share paralogs with SEC23IP           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 SEC23IP (see all 1280)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1178476621,2
    C,F--115279348(+) GAAGGA/CCTGTA 2 -- us2k11Minor allele frequency- C:0.03NA 120
    rs1928908881,2
    --115279481(+) AAGGAC/TTGTAA 2 -- us2k10--------
    rs1164502971,2
    C,F--121650097(+) CCAATA/C/TAGCGC 2 -- us2k11WA 118
    rs1854639391,2
    --121650100(+) ATCAGC/TGCTCT 2 -- us2k10--------
    rs24753081,2
    C,A--121650101(-) cagagC/Tgctga 2 -- us2k14Minor allele frequency- T:0.42NA WA EA 360
    rs1495050191,2
    C--121650227(+) TCTTTC/TGCTCT 2 -- us2k10--------
    rs1441774111,2
    --121650491(+) CACCAC/TTGCTT 2 -- us2k10--------
    rs774594421,2
    C,F--121650546(+) TTAACA/CCACCC 2 -- us2k11Minor allele frequency- C:0.18EA 120
    rs767736251,2
    --121650616(+) ACACCA/CCAGCC 2 -- us2k10--------
    rs1181670911,2
    F--121650656(+) CAAAGT/CTGTGT 2 -- us2k11Minor allele frequency- C:0.01EA 120

    HapMap Linkage Disequilibrium report for SEC23IP (121652085 - 121704170 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SEC23IP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv896044CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SEC23IP
    DNA2.0 Custom Variant and Variant Library Synthesis for SEC23IP

    (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 SEC23IP:    
    About MalaCards
    nodular malignant melanoma

    1 disease from the University of Copenhagen DISEASES database for SEC23IP:
    Nodular malignant melanoma

    Find genes that share disorders with SEC23IP           About GenesLikeMe

    Genetic Association Database (GAD): SEC23IP
    Human Genome Epidemiology (HuGE) Navigator: SEC23IP (2 documents)

    Export disorders for SEC23IP 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 SEC23IP gene, integrated from 10 sources (see all 47):
    (articles sorted by number of sources associating them with SEC23IP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. p125 is a novel mammalian Sec23p-interacting protein with structural similarity to phospholipid-modifying proteins. (PubMed id 10400679)1, 2, 3 Tani K.... Tagaya M. (J. Biol. Chem. 1999)
    2. p125 is localized in endoplasmic reticulum exit sites and involved in their organization. (PubMed id 15623529)1, 2, 9 Shimoi W.... Tani K. (J. Biol. Chem. 2005)
    3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    5. 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)
    6. Determination of functional regions of p125, a novel mammalian Sec23p-interacting protein. (PubMed id 11112430)1, 9 Mizoguchi T....Tani K. (Biochem. Biophys. Res. Commun. 2000)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    8. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    9. Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p. (PubMed id 22922100)2 Inoue H.... Tani K. (Biochim. Biophys. Acta 2012)
    10. Interaction proteomics identify NEURL4 and the HECT E3 ligase HERC2 as novel modulators of centrosome architecture. (PubMed id 22261722)1 Al-Hakim A.K.... Pelletier L. (Mol. Cell. Proteomics 2012)

    (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: 11196 HGNC: 17018 AceView: SEC23IP Ensembl:ENSG00000107651 euGenes: HUgn11196
    ECgene: SEC23IP H-InvDB: SEC23IP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SEC23IP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SEC23IP gene:
    Search GeneIP for patents involving SEC23IP

    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
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