Human Gene SEC14L1 (uc002jto.3) Description and Page Index
  Description: Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 1, mRNA.
RefSeq Summary (NM_003003): 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].
Transcript (Including UTRs)
   Position: hg19 chr17:75,137,005-75,213,181 Size: 76,177 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg19 chr17:75,139,679-75,210,105 Size: 70,427 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:75,137,005-75,213,181)mRNA (may differ from genome)Protein (715 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIOMIMPubMed
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: Q59HE8_HUMAN
DESCRIPTION: SubName: Full=Putative uncharacterized protein; Flags: Fragment;
SIMILARITY: Contains 1 CRAL-TRIO domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SEC14L1
CDC HuGE Published Literature: SEC14L1
Positive Disease Associations: Cognitive performance , Psychomotor Performance
Related Studies:
  1. Cognitive performance
    Need ,et al. 2009, A Genome-wide Study of Common SNPs and CNVs in Cognitive Performance in the CANTAB battery, Human molecular genetics 2009 18- 23 : 4650-61. [PubMed 19734545]
  2. Psychomotor Performance
    Anna C Need et al. Human molecular genetics 2009, A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB., Human molecular genetics. [PubMed 19734545]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.92 RPKM in Whole Blood
Total median expression: 780.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -87.20267-0.327 Picture PostScript Text
3' UTR -1084.863076-0.353 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001251 - CRAL-TRIO_dom
IPR011074 - CRAL/TRIO_N_dom
IPR009038 - GOLD
IPR006797 - PRELI/MSF1

Pfam Domains:
PF00650 - CRAL/TRIO domain
PF03765 - CRAL/TRIO, N-terminal domain
PF04707 - PRELI-like family

SCOP Domains:
46938 - CRAL/TRIO N-terminal domain
101576 - Supernatant protein factor (SPF), C-terminal domain
52087 - CRAL/TRIO domain

ModBase Predicted Comparative 3D Structure on Q59HE8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  FM995498 - Homo sapiens partial mRNA for SEC14L1 protein, transcript variant 9.
FM995497 - Homo sapiens partial mRNA for SEC14L1 protein, transcript variant 8.
FM995495 - Homo sapiens mRNA for SEC14L1 protein isoform b, transcript variant 6.
FM995496 - Homo sapiens mRNA for SEC14L1 protein isoform a, transcript variant 7.
JD362712 - Sequence 343736 from Patent EP1572962.
AB208811 - Homo sapiens mRNA for Hypothetical protein DKFZp686C06176 variant protein.
D67029 - Homo sapiens SEC14L mRNA, complete cds.
JD406096 - Sequence 387120 from Patent EP1572962.
BX537448 - Homo sapiens mRNA; cDNA DKFZp686C06176 (from clone DKFZp686C06176).
AK290913 - Homo sapiens cDNA FLJ76794 complete cds, highly similar to Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), mRNA.
BC142979 - Homo sapiens SEC14-like 1 (S. cerevisiae), mRNA (cDNA clone MGC:167081 IMAGE:8860414), complete cds.
BC136523 - Homo sapiens SEC14-like 1 (S. cerevisiae), mRNA (cDNA clone MGC:168136 IMAGE:9020513), complete cds.
BC136525 - Homo sapiens SEC14-like 1 (S. cerevisiae), mRNA (cDNA clone MGC:168138 IMAGE:9020515), complete cds.
CR627306 - Homo sapiens mRNA; cDNA DKFZp686M05114 (from clone DKFZp686M05114).
KJ901050 - Synthetic construct Homo sapiens clone ccsbBroadEn_10444 SEC14L1 gene, encodes complete protein.
AB384740 - Synthetic construct DNA, clone: pF1KB3063, Homo sapiens SEC14L1 gene for SEC14-like protein 1, complete cds, without stop codon, in Flexi system.
AM393464 - Synthetic construct Homo sapiens clone IMAGE:100002361 for hypothetical protein (SEC14L1 gene).
BC143077 - Synthetic construct Homo sapiens clone IMAGE:100000915, MGC:167354 SEC14-like 1 (S. cerevisiae) (SEC14L1) mRNA, encodes complete protein.
BC150321 - Synthetic construct Homo sapiens clone IMAGE:100013649, MGC:167355 SEC14-like 1 (S. cerevisiae) (SEC14L1) mRNA, encodes complete protein.
AK293206 - Homo sapiens cDNA FLJ59456 complete cds, highly similar to SEC14-like protein 1.
U79284 - Human SEC14L mRNA, partial cds.
AK303328 - Homo sapiens cDNA FLJ50937 complete cds, highly similar to SEC14-like protein 1.
AK293867 - Homo sapiens cDNA FLJ54626 complete cds, highly similar to SEC14-like protein 1.
AK130317 - Homo sapiens cDNA FLJ26807 fis, clone PRS06066.
AK094232 - Homo sapiens cDNA FLJ36913 fis, clone BRACE2003848, highly similar to Human SEC14L mRNA.
JD099606 - Sequence 80630 from Patent EP1572962.
JD385620 - Sequence 366644 from Patent EP1572962.
JD264022 - Sequence 245046 from Patent EP1572962.
JD141080 - Sequence 122104 from Patent EP1572962.
JD141081 - Sequence 122105 from Patent EP1572962.
JD354844 - Sequence 335868 from Patent EP1572962.
JD204222 - Sequence 185246 from Patent EP1572962.
JD189985 - Sequence 171009 from Patent EP1572962.
JD286352 - Sequence 267376 from Patent EP1572962.
JD566902 - Sequence 547926 from Patent EP1572962.
JD134803 - Sequence 115827 from Patent EP1572962.
JD540899 - Sequence 521923 from Patent EP1572962.
JD335208 - Sequence 316232 from Patent EP1572962.
JD051876 - Sequence 32900 from Patent EP1572962.
JD112828 - Sequence 93852 from Patent EP1572962.
JD090484 - Sequence 71508 from Patent EP1572962.
JD231372 - Sequence 212396 from Patent EP1572962.
JD293899 - Sequence 274923 from Patent EP1572962.
JD562307 - Sequence 543331 from Patent EP1572962.
JD094692 - Sequence 75716 from Patent EP1572962.
JD281824 - Sequence 262848 from Patent EP1572962.
JD036869 - Sequence 17893 from Patent EP1572962.
JD520466 - Sequence 501490 from Patent EP1572962.
JD257250 - Sequence 238274 from Patent EP1572962.
JD487138 - Sequence 468162 from Patent EP1572962.
JD256247 - Sequence 237271 from Patent EP1572962.
JD565240 - Sequence 546264 from Patent EP1572962.
JD559367 - Sequence 540391 from Patent EP1572962.
JD272272 - Sequence 253296 from Patent EP1572962.
JD079844 - Sequence 60868 from Patent EP1572962.
JD455962 - Sequence 436986 from Patent EP1572962.
JD096797 - Sequence 77821 from Patent EP1572962.
JD144973 - Sequence 125997 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_003003, NP_001137473, Q59HE8, Q59HE8_HUMAN
UCSC ID: uc002jto.3
RefSeq Accession: NM_003003
Protein: Q59HE8 CCDS: CCDS45789.1, CCDS11752.1, CCDS42385.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003003.3
exon count: 17CDS single in 3' UTR: no RNA size: 5493
ORF size: 2148CDS single in intron: no Alignment % ID: 99.98
txCdsPredict score: 4433.00frame shift in genome: no % Coverage: 99.96
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.