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

SEC14L1 Gene

protein-coding   GIFtS: 56
GCID: GC17P075093

SEC14-like 1 (S. cerevisiae)

(Previous name: SEC14 (S. cerevisiae)-like 1 )
(Previous symbol: SEC14L)
 Explore 4 diseases affiliated with
SEC14L1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SEC14L1    

Aliases
for SEC14L1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
SEC14-Like 1 (S. Cerevisiae)1 2
SEC14L1 2 3 5
PRELID4A1 2
SEC14 (S. Cerevisiae)-Like 11
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


Summaries
for SEC14L1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SEC14L1:
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)

Gene Wiki entry for SEC14L1


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences 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 plasmid: SEC14L1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SEC14L1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC17P075093:  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

Proteins
for SEC14L1 gene

(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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92503

    • SEC14L1 Protein expression data from MOPED and PaxDb:    About this image 
    SEC14L1 Protein Expression
    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  

    Human Recombinant Protein Products for SEC14L1: 
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    Novus Biologicals SEC14L1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SEC14L1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    SEC14L1 for ontologies           About GeneDecksing



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    ThermoFisher Antibodies for SEC14L1

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    Uscn ELISAs and CLIAs for SEC14L1

    Protein Domains /
    Families
    for SEC14L1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SEC14L1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR006797 PRELI/MSF1
     IPR009038 GOLD
     IPR011074 CRAL/TRIO_N_dom
     IPR001251 CRAL-TRIO_dom

    Graphical View of Domain Structure for InterPro Entry Q92503

    ProtoNet protein and cluster: Q92503

    4 Blocks protein families:
    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


    Function
    for SEC14L1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:
         Genatlas biochemistry entry for SEC14L1:
    yeast (S cerevisiae) SEC14-like 1,putatively involved in intracellulair transport system,ubiquitously expressed

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
         
    SEC14L1 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SEC14L1 

    miRNA
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    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 plasmid: SEC14L1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEC14L1


    Pathways & Interactions
    for SEC14L1 gene

    (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 SEC14L1

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

    2 Interacting proteins for SEC14L1 (Q925033 ENSP000003762684) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EPB41P111713, ENSP000002901004I2D: score=1 STRING: ENSP00000290100
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

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

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

    SEC14L1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SEC14L1 gene

    (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 SEC14L1
    Search CenterWatch for drugs/clinical trials and news about SEC14L1 / S14L1 

    Transcripts
    for SEC14L1 gene

    (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, Sirion Biotech, 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 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
    18/29 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
    Products:             		 OriGene 3'-UTR Clone (see all 5): SEC14L1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEC14L1
    8/43 QIAGEN miScript miRNA 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 plasmid: SEC14L1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SEC14L1 (see all 7)
    OriGene shRNA RFP: SEC14L1
    OriGene siRNA: SEC14L1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SEC14L1
    Sirion Biotech Custom design and validation of potent shRNA sequences against SEC14L1 
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SEC14L1 (see all 9)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SEC14L1 (see all 5)
    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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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SEC14L1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SEC14L1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SEC14L1

    Additional cDNA 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 

    24/27 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 

    24/378 AceView cDNA sequences (see all 378):

    U79284 AI924301 BM711322 CB178708 AW515721 AA121691 W30759 AA122317 
    AI831528 BM670397 AI565942 AA412175 CB250440 BE465126 BQ024288 CB851323 
    BX482158 CA425815 F11094 BM451178 BM128184 BX479269 N20215 BF930223 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for SEC14L1 gene

    (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

    SEC14L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCGCACAAA
    SEC14L1 Expression
    About this image

    SEC14L1 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: 2 LifeMap Cells 
    NameCategory
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SEC14L1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SEC14L1

    SOURCE GeneReport for Unigene cluster: Hs.464184

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

        SABiosciences Custom PCR Arrays for SEC14L1
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    In Situ
    Assay Products:     
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    Orthologs
    for SEC14L1 gene

    (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 SEC14L1 gene from 8/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SEC14L11 SEC14-like 1 (S. cerevisiae) 81.11(n)
    92.69(a)    		   417350  XM_415614.2  XP_415614.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SEC14L16
    		 --
    		 87(a)
    		 1 ↔ 1
    		 2(110981472-111001122)
    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
    Protein T23G5.21    		 46(a)3
    54.19(n)1
    51.17(a)1    		   III(9303461-9308038)3
    1763021  NM_001047410.31  NP_001040875.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G558406
    AT5G477306
    		 sec.4-like phosphatidylinositol transfer protein
    putative sec14p-like phosphatidylinositol transfer...
    		 21(a)
    19(a)
    		 many ↔ many
    many ↔ many
    		 1(20873602-20876272)
    5(19334250-19337101)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 3)    		 CRAL/TRIO domain containing protein
    (see all 3)    		 21(a)
    21(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 2(5604236-5609533)
    6(24141817-24146314)


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

    Paralogs
    for SEC14L1 gene

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


    Genomic Variants
    for SEC14L1 gene

    (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

    10/2454 NCBI SNPs in SEC14L1 are shown (see all 2454)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs14431421,2
    		C,F,O,A,H--75082787(+) CCATGT/GAGTAG 2 -- us2k125Minor allele frequency- G:0.29MN NS EA NA WA CSA 4346
    rs1424170601,2
    		C--75083002(+) CTCCA-/GTTAAG 2 -- us2k10--------
    rs1898149911,2
    		--75083143(+) ATGTAC/TTGTTG 2 -- us2k10--------
    rs1444958421,2
    		--75083190(+) GGTGCA/GGTCAT 2 -- us2k10--------
    rs1394095481,2
    		--75083203(+) AAATCA/TCGCTC 2 -- us2k10--------
    rs1512918671,2
    		--75083239(+) CGGTC-/TTTTTAT 3 -- us2k10--------
    rs116586061,2
    		C,F,H--75083403(+) catgcA/Cccacc 4 -- us2k15Minor allele frequency- C:0.00NS EA NA 420
    rs1434587301,2
    		--75083460(+) ATGTCA/GGTCAG 4 -- us2k10--------
    rs1114574441,2
    		C--75083468(+) CAGGCC/TGGTCT 4 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1822646061,2
    		--75083567(+) TGCAGA/TCTTGG 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for SEC14L1 (75082798 - 75213183 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for SEC14L1
         4 CNVs: 4047 35502 47985 35501
         2 Indels: 45595 61587

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    Disorders / Diseases
    for SEC14L1 gene

    (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
    SEC14L1 for disorders           About GeneDecksing

    OMIM gene information: 601504    OMIM disorders: --

    4 diseases for SEC14L1:    About MalaCards
    nonepidermolytic palmoplantar keratoderma    amyotrophic neuralgia    keratoderma    neuropathy

    2 diseases from the University of Copenhagen DISEASES database for SEC14L1:
    Brachial plexus neuropathy     Nonepidermolytic palmoplantar keratoderma
    Human Genome Epidemiology (HuGE) Navigator: SEC14L1 (1 document)

    Export disorders for SEC14L1 gene to outside databases

    Publications
    for SEC14L1 gene

    (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 SEC14L1 gene, integrated from 9 sources (see all 21):
    (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. (1996)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 2 Yu W.... Gibbs R.A. (1997)
    4. A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern. (PubMed id 22683750)1 Sinner M.F....Salomaa V. (2012)
    5. 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)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    9. A genome-wide study of common SNPs and CNVs in cognit ive performance in the CANTAB. (PubMed id 19734545)1 Need A.C....Goldstein D.B. (2009)
    10. New insights into potential functions for the protein 4.1 superfamily of proteins in kidney epithelium. (PubMed id 16368544)1 Calinisan V....Gascard P. (2006)

    External Searches for SEC14L1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing SEC14L1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6397 HGNC: 10698 AceView: SEC14L1 Ensembl:ENSG00000129657 euGenes: HUgn6397
    ECgene: SEC14L1 H-InvDB: SEC14L1

    Other Databases showing SEC14L1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SEC14L1 gene

    (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 SEC14L1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SEC14L1 gene

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



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    About This Section

     
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