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SEC14L1 Gene

protein-coding   GIFtS: 59
GCID: GC17P075101

SEC14-Like 1 (S. Cerevisiae)

(Previous name: SEC14 (S. cerevisiae)-like 1)
(Previous symbol: SEC14L)
Pneumococci & Pneumococcal Diseases Congress
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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
SEC14-Like 1 (S. Cerevisiae)1 2
SEC14L1 2 3 5
SEC14 (S. Cerevisiae)-Like 11
PRELID4A2
SEC14-Like Protein 12

External Ids:    HGNC: 106981   Entrez Gene: 63972   Ensembl: ENSG000001296577   OMIM: 6015045   UniProtKB: Q925033   

Export aliases for SEC14L1 gene to outside databases

Previous GC identifers: GC17P074969 GC17P078129 GC17P075601 GC17P075734 GC17P072648 GC17P075137 GC17P070565 GC17P075089 GC17P075090 GC17P075092 GC17P075093 GC17P075096


(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 SEC14L1 Gene:
The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14
and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular
transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants
represent read-through transcripts that include exons from the upstream gene C17orf86. (provided by RefSeq, Feb
2011)

GeneCards Summary for SEC14L1 Gene:
SEC14L1 (SEC14-like 1 (S. cerevisiae)) is a protein-coding gene. Diseases associated with SEC14L1 include amyotrophic neuralgia, and brachial plexus neuropathy. An important paralog of this gene is ENSG00000249590.

Gene Wiki entry for SEC14L1 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:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the SEC14L1 gene promoter:
         Egr-3   HFH-3   AML1a   Sp1   GATA-2   FOXI1   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSEC14L1 promoter sequence
   Search Chromatin IP Primers for SEC14L1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEC14L1


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

Entrez Gene cytogenetic band: 17q25.2   Ensembl cytogenetic band:  17q25.2   HGNC cytogenetic band: 17q25.2

SEC14L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEC14L1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P075101:  view genomic region     (about GC identifiers)

Start:
75,082,798 bp from pter      End:
75,213,183 bp from pter
Size:
130,386 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: S14L1_HUMAN, Q92503 (See protein sequence)
Recommended Name: SEC14-like protein 1  
Size: 715 amino acids; 81250 Da
Secondary accessions: A8K4E8 B4DDI5 D5G3K1 Q99780
Alternative splicing: 3 isoforms:  Q92503-1   Q92503-2   Q92503-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEC14L1: NX_Q92503

Explore proteomics data for SEC14L1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys160, Lys597
  • Modification sites at PhosphoSitePlus

  • See SEC14L1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_001034662.2  NP_001137470.1  NP_001137471.1  NP_001137473.1  NP_001191337.1  NP_001191339.1  NP_002994.3  

    ENSEMBL proteins: 
     ENSP00000466079   ENSP00000464973   ENSP00000376268   ENSP00000408169   ENSP00000466220  
     ENSP00000465196   ENSP00000466581   ENSP00000390392   ENSP00000406030   ENSP00000467868  
     ENSP00000468184   ENSP00000467934   ENSP00000466137   ENSP00000389838   ENSP00000468727  
     ENSP00000467347   ENSP00000464777   ENSP00000394716  

    SEC14L1 Human Recombinant Protein Products:

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    Novus Biologicals SEC14L1 Lysates
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    Cloud-Clone Corp. Proteins for SEC14L1

    SEC14L1 Antibody Products:

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    SEC14L1 Assay Products:

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    Cloud-Clone Corp. CLIAs for SEC14L1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR006797 PRELI/MSF1
     IPR001251 CRAL-TRIO_dom
     IPR009038 GOLD
     IPR011074 CRAL/TRIO_N_dom

    Graphical View of Domain Structure for InterPro Entry Q92503

    ProtoNet protein and cluster: Q92503

    4 Blocks protein domains:
    IPB001071 Cellular retinaldehyde-binding protein signature
    IPB001251 Cellular retinaldehyde-binding (CRAL)/Triple function domain (TRIO)
    IPB006797 MSF1-like conserved region
    IPB008273 Cellular retinaldehyde-binding/triple function


    UniProtKB/Swiss-Prot: S14L1_HUMAN, Q92503
    Similarity: Contains 1 CRAL-TRIO domain
    Similarity: Contains 1 GOLD domain
    Similarity: Contains 1 PRELI/MSF1 domain


    SEC14L1 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for SEC14L1:
    yeast (S cerevisiae) SEC14-like 1,putatively involved in intracellulair transport system,ubiquitously expressed

    Phenotypes:
         1 GenomeRNAi human phenotype for SEC14L1:
     Decreased p24 protein expressi 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEC14L1
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    miRNA
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    miRTarBase miRNAs that target SEC14L1:
    hsa-mir-320a (MIRT044467), hsa-mir-320c (MIRT036159), hsa-mir-92a-3p (MIRT049000), hsa-mir-708-5p (MIRT037755)

    Block miRNA regulation of human, mouse, rat SEC14L1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEC14L1 (see all 43):
    hsa-miR-4307 hsa-let-7d hsa-miR-330-5p hsa-miR-16-1* hsa-miR-507 hsa-miR-218 hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidSEC14L1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SEC14L1
    Predesigned siRNA for gene silencing in human, mouse, rat SEC14L1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 7): SEC14L1 (NM_001143998)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEC14L1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEC14L1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SEC14L1
    Browse ESI BIO Cell Lines and PureStem Progenitors for SEC14L1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC14L1


    (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 COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus4
    cytosol3
    nucleus2
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus TAS8697811
    GO:0016020membrane TAS8697811
    GO:0016021integral component of membrane IEA--

    SEC14L1 for ontologies           About GeneDecksing


    (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 SEC14L1
    Interactions:

        Search GeneGlobe Interaction Network for SEC14L1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SEC14L1 (Q925033 ENSP000003762684) via UniProtKB, MINT, STRING, and/or I2D (see all 128)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EPB41P111713, ENSP000002901004I2D: score=1 STRING: ENSP00000290100
    ARFGAP1ENSP000003146154STRING: ENSP00000314615
    ARFRP1ENSP000003268844STRING: ENSP00000326884
    ARL1ENSP000002616364STRING: ENSP00000261636
    MOSPD2ENSP000003698604STRING: ENSP00000369860
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport IEA--

    SEC14L1 for ontologies           About GeneDecksing



    (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 SEC14L1 (S14L1)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SEC14L1 gene (7 alternative transcripts): 
    NM_001039573.2  NM_001143998.1  NM_001143999.1  NM_001144001.1  NM_001204408.1  NM_001204410.1  NM_003003.3  

    Unigene Cluster for SEC14L1:

    SEC14-like 1 (S. cerevisiae)
    Hs.464184  [show with all ESTs]
    Unigene Representative Sequence: CR627306
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000568056(uc021udq.1) ENST00000564414(uc021udp.1) ENST00000564509
    ENST00000561633(uc021udt.1 uc021udu.1) ENST00000561721 ENST00000589827
    ENST00000392476(uc021udv.1 uc021udw.1) ENST00000569632 ENST00000430767(uc021udx.1 uc002jto.3)
    ENST00000586429 ENST00000586390 ENST00000588880 ENST00000585618 ENST00000436233(uc010dhc.3 uc010wth.2 uc002jtm.3)
    ENST00000443798 ENST00000588696 ENST00000587820 ENST00000591786

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SEC14L1 (see all 43):
    hsa-miR-4307 hsa-let-7d hsa-miR-330-5p hsa-miR-16-1* hsa-miR-507 hsa-miR-218 hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidSEC14L1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SEC14L1
    Predesigned siRNA for gene silencing in human, mouse, rat SEC14L1
    Clone
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    OriGene clones in human, mouse for SEC14L1 (see all 28)
    OriGene ORF clones in mouse, rat for SEC14L1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 7): SEC14L1 (NM_001143998)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEC14L1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEC14L1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SEC14L1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SEC14L1
      QuantiTect SYBR Green Assays in human, mouse, rat SEC14L1
      QuantiFast Probe-based Assays in human, mouse, rat SEC14L1

    Additional mRNA sequence: 

    AB208811.1 AK124905.1 AK290913.1 AK293206.1 AK293867.1 AK303328.1 BC136523.1 BC136525.1 
    BC142979.1 BX537448.1 CR627306.1 D67029.1 U79284.1 

    Selected DOTS entries (see all 27):

    DT.447204  DT.101982093  DT.95185886  DT.95185881  DT.92431749  DT.100825720  DT.308613  DT.100761598 
    DT.308614  DT.100028732  DT.100825722  DT.120976439  DT.100825721  DT.120976183  DT.120976205  DT.120976436 
    DT.40115711  DT.40205478  DT.92039511  DT.92431746  DT.97809883  DT.97836400  DT.100028731  DT.301253 

    Selected AceView cDNA sequences (see all 378):

    BU618028 BG236343 H14928 CD364655 BM716038 BG819095 F07840 BQ228735 
    BE674726 CR624475 BQ922136 AI142567 AA811770 BQ064671 F06036 CA430534 
    CK819210 CD364615 BU687301 BE466615 H25163 AI970216 BE222403 W78745 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SEC14L1 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20
    SP1:        -                                                                                         -                 -                                 
    SP2:        -                                                                                         -                 -                                 
    SP3:                                                                                                  -                 -                 -     -         
    SP4:                                                                                                                                                      
    SP5:                                                                                                                    -                                 


    ECgene alternative splicing isoforms for SEC14L1

    (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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    SEC14L1 expression in normal human tissues (normalized intensities)      SEC14L1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCGCACAAA
    SEC14L1 Expression
    About this image


    SEC14L1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Granulocytes Peripheral Blood
             Bone marrow-derived hematopoietic stem cells (family)
    SEC14L1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEC14L1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.464184

    UniProtKB/Swiss-Prot: S14L1_HUMAN, Q92503
    Tissue specificity: Ubiquitous

        Custom PCR Arrays for SEC14L1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC14L1

    (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 SEC14L1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sec14l11 , 5 SEC14-like 1 (S. cerevisiae)1, 5 86.42(n)1
    94.7(a)1
      11 (81.99 cM)5
    741361  NM_028777.31  NP_083053.21 
     1171151685 
    chicken
    (Gallus gallus)
    Aves SEC14L11 SEC14-like 1 (S. cerevisiae) 80.28(n)
    92.06(a)
      417350  XM_004946106.1  XP_004946163.1 
    lizard
    (Anolis carolinensis)
    Reptilia SEC14L16
    SEC14-like 1 (S. cerevisiae)
    91(a)
    1 ↔ 1
    2(110976645-111026976)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.69962 Xenopus laevis transcribed sequence with strong similarity more 75.82(n)    BU914698.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc557832 similar to SEC14-like 1 (S. cerevisiae) 76.29(n)   394073  BC044490.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG95283 phosphatidylinositol transporter 44(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea T23G5.21 , 3 SEC14 (yeast)3
    T23G5.21
    46(a)3
    54.26(n)1
    51.32(a)1
      III(9303461-9308038)3
    1763021  NM_001047410.41  NP_001040875.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes --
    SEC146
    Putative homolog of Sec14p, which is a phosphatidy...
    Phosphatidylinositol/phosphatidylcholine transfer ...
    27(a)
    27(a)
    many ↔ many
    many ↔ many
    XI(269718-270650) YKL091C
    XIII(424989-426059) YMR079W


    ENSEMBL Gene Tree for SEC14L1 (if available)
    TreeFam Gene Tree for SEC14L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEC14L1 gene
    ENSG000002495902  SEC14L62  SEC14L52  SEC14L22  SEC14L32  SEC14L42  
    7 SIMAP similar genes for SEC14L1 using alignment to 13 protein entries:     S14L1_HUMAN (see all proteins):
    DKFZp686C06176    SEC14L5    SEC14L2    SEC14L3    SEC14L4    SLMO1
    Em

    SEC14L1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SEC14L1
    PGOHUM00000242655


    (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 SEC14L1 (see all 2736)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1124742771,2
    C--70532711(+) TCTCC-/AAAAAAA 2 -- int11Minor allele frequency- AA:0.00CSA 2
    rs1887468511,2
    --75091593(+) TCTCTA/GTCACT 2 -- int10--------
    rs1820261001,2
    --75091681(+) GAGGCA/GGGTGG 2 -- int10--------
    rs1862171671,2
    C--75091762(+) GGTGTC/TGTGGC 2 -- int10--------
    rs1458354571,2
    --75091778(+) CCTGTA/CATCCC 2 -- int10--------
    rs1171392621,2
    C,F--75091831(+) GAGACA/GGAGGT 2 -- int11Minor allele frequency- G:0.03EA 120
    rs113199711,2
    C,F--75091899(+) GTCTC-/AAAAAA 2 -- int14Minor allele frequency- A:0.38NA CSA 8
    rs4723591,2
    C,A,H--75091924(+) TTACTT/GAAATA 2 -- int110Minor allele frequency- G:0.09NA WA CSA EA 258
    rs1488177561,2
    --75091930(+) AAATAA/GATAAA 2 -- int10--------
    rs760886091,2
    C,F--75091981(+) CTCCTA/GCACAG 2 -- int12Minor allele frequency- G:0.04NA EA 240

    HapMap Linkage Disequilibrium report for SEC14L1 (75082798 - 75213183 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SEC14L1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2716267CNV Deletion23290073
    esv2675918CNV Deletion23128226
    esv2050948CNV Deletion18987734
    esv2716266CNV Deletion23290073
    esv2635212CNV Insertion19546169
    nsv2148CNV Insertion18451855
    nsv2147CNV Insertion18451855
    nsv513482CNV Insertion21212237
    esv6153CNV Loss19470904
    nsv908843CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SEC14L1
    DNA2.0 Custom Variant and Variant Library Synthesis for SEC14L1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601504    OMIM disorders: --

    7 diseases for SEC14L1:    About MalaCards
    amyotrophic neuralgia    brachial plexus neuropathy    keratoderma    neuropathy
    hiv-1    prostate cancer    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for SEC14L1:
    Brachial plexus neuropathy     Nonepidermolytic palmoplantar keratoderma

    SEC14L1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genetic Association Database (GAD): SEC14L1
    Human Genome Epidemiology (HuGE) Navigator: SEC14L1 (1 document)

    Export disorders for SEC14L1 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 SEC14L1 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with SEC14L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and mapping of a human gene (SEC14L), partially homologous to yeast SEC14, that contains a variable number of tandem repeats (VNTR) site in its 3' untranslated region. (PubMed id 8697811)1, 2, 3, 9 Chinen K.... Nakamura Y. (Cytogenet. Cell Genet. 1996)
    2. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PubMed id 19734545)1, 4 Need A.C....Goldstein D.B. (Hum. Mol. Genet. 2009)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 2 Yu W.... Gibbs R.A. (Genome Res. 1997)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. Negative regulation of RIG-I-mediated innate antiviral signaling by SEC14L1. (PubMed id 23843640)1 Li M.T....Chen D.Y. (J. Virol. 2013)
    7. A 12-gene expression signature is associated with aggressive histological in prostate cancer: SEC14L1 and TCEB1 genes are potential markers of progression. (PubMed id 23083832)1 Agell L....Lloreta J. (Am. J. Pathol. 2012)
    8. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)
    9. A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern. (PubMed id 22683750)1 Sinner M.F....Salomaa V. (Heart Rhythm 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 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)
    About This Section

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    Entrez Gene: 6397 HGNC: 10698 AceView: SEC14L1 Ensembl:ENSG00000129657 euGenes: HUgn6397
    ECgene: SEC14L1 H-InvDB: SEC14L1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for SEC14L1 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 SEC14L1 gene:
    Search GeneIP for patents involving SEC14L1

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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