Human Gene SEC14L2 (uc003ahr.3) Description and Page Index
  Description: Homo sapiens SEC14-like 2 (S. cerevisiae) (SEC14L2), transcript variant 1, mRNA.
RefSeq Summary (NM_012429): This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008].
Transcript (Including UTRs)
   Position: hg19 chr22:30,792,930-30,821,291 Size: 28,362 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr22:30,793,106-30,818,396 Size: 25,291 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:30,792,930-30,821,291)mRNA (may differ from genome)Protein (403 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: S14L2_HUMAN
DESCRIPTION: RecName: Full=SEC14-like protein 2; AltName: Full=Alpha-tocopherol-associated protein; Short=TAP; Short=hTAP; AltName: Full=Squalene transfer protein; AltName: Full=Supernatant protein factor; Short=SPF;
FUNCTION: Carrier protein. Binds to some hydrophobic molecules and promotes their transfer between the different cellular sites. Binds with high affinity to alpha-tocopherol. Also binds with a weaker affinity to other tocopherols and to tocotrienols. May have a transcriptional activatory activity via its association with alpha-tocopherol. Probably recognizes and binds some squalene structure, suggesting that it may regulate cholesterol biosynthesis by increasing the transfer of squalene to a metabolic active pool in the cell.
SUBUNIT: Monomer (By similarity).
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Cytoplasmic in absence of alpha-tocopherol, and nuclear in presence of alpha- tocopherol.
TISSUE SPECIFICITY: Widely expressed. Strong expression in liver, brain and prostate.
DEVELOPMENTAL STAGE: Low expression in fetal tissues.
SIMILARITY: Contains 1 CRAL-TRIO domain.
SIMILARITY: Contains 1 GOLD domain.
SEQUENCE CAUTION: Sequence=BAA86500.2; Type=Erroneous initiation;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SEC14L2
CDC HuGE Published Literature: SEC14L2
Positive Disease Associations: Waist Circumference
Related Studies:
  1. Waist Circumference
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: SEC14L2
Diseases sorted by gene-association score: retinitis pigmentosa 41 (4), ataxia with isolated vitamin e deficiency (2)

-  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: 32.42 RPKM in Liver
Total median expression: 209.46 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 -79.60176-0.452 Picture PostScript Text
3' UTR -1135.542895-0.392 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
IPR001071 - CRAL-bd_toc_tran
IPR001251 - CRAL-TRIO_dom
IPR011074 - CRAL/TRIO_N_dom
IPR009038 - GOLD

Pfam Domains:
PF00650 - CRAL/TRIO domain
PF13716 - Divergent CRAL/TRIO domain

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

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1O6U
- X-ray MuPIT

1OLM
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O76054
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 orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsemblFlyBaseWormBase 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 
 AlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005543 phospholipid binding
GO:0008289 lipid binding
GO:0008431 vitamin E binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0045540 regulation of cholesterol biosynthetic process
GO:0045893 positive regulation of transcription, DNA-templated

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AL096881 - Novel human mRNA similar to Rattus norvegicus 45 kDa secretory protein, AJ132352.
AK223587 - Homo sapiens mRNA for SEC14-like 2 variant, clone: FCC130E01.
BC048337 - Homo sapiens SEC14-like 2 (S. cerevisiae), mRNA (cDNA clone IMAGE:5212661), partial cds.
AK314390 - Homo sapiens cDNA, FLJ95164, highly similar to Homo sapiens SEC14-like 2 (S. cerevisiae) (SEC14L2), mRNA.
AK091402 - Homo sapiens cDNA FLJ34083 fis, clone FCBBF3004409, highly similar to SEC14-like protein 2.
BC058915 - Homo sapiens SEC14-like 2 (S. cerevisiae), mRNA (cDNA clone MGC:65053 IMAGE:5178251), complete cds.
AB033012 - Homo sapiens KIAA1186 mRNA for KIAA1186 protein.
CR456571 - Homo sapiens SEC14L2 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.SEC14L2).
AK303751 - Homo sapiens cDNA FLJ53690 complete cds, highly similar to SEC14-like protein 2.
AK296540 - Homo sapiens cDNA FLJ54104 complete cds, highly similar to SEC14-like protein 2.
CU013458 - Homo sapiens SEC14L2, mRNA (cDNA clone IMAGE:100000428), complete cds, without stop codon, in Gateway system.
CU013170 - Homo sapiens SEC14L2, mRNA (cDNA clone IMAGE:100000524), complete cds, with stop codon, in Gateway system.
AB384131 - Synthetic construct DNA, clone: pF1KSDA1186, Homo sapiens SEC14L2 gene for SEC14-like protein 2, complete cds, without stop codon, in Flexi system.
AY927438 - Homo sapiens mRNA sequence.
AY927439 - Homo sapiens mRNA sequence.
JD480207 - Sequence 461231 from Patent EP1572962.
JD026466 - Sequence 7490 from Patent EP1572962.
JD271591 - Sequence 252615 from Patent EP1572962.
JD036200 - Sequence 17224 from Patent EP1572962.
JD458625 - Sequence 439649 from Patent EP1572962.
AY927430 - Homo sapiens mRNA sequence.
AK056163 - Homo sapiens cDNA FLJ31601 fis, clone NT2RI2002592.
AY927434 - Homo sapiens mRNA sequence.
AY927435 - Homo sapiens mRNA sequence.
AY927436 - Homo sapiens mRNA sequence.
AY927437 - Homo sapiens mRNA sequence.
AY927441 - Homo sapiens mRNA sequence.
AY927432 - Homo sapiens mRNA sequence.
AY927433 - Homo sapiens mRNA sequence.
AY927440 - Homo sapiens mRNA sequence.
AY927431 - Homo sapiens mRNA sequence.
AY927442 - Homo sapiens mRNA sequence.
AK092576 - Homo sapiens cDNA FLJ35257 fis, clone PROST2004115.
JD298055 - Sequence 279079 from Patent EP1572962.
JD158085 - Sequence 139109 from Patent EP1572962.
JD469975 - Sequence 450999 from Patent EP1572962.
JD288222 - Sequence 269246 from Patent EP1572962.
JD448800 - Sequence 429824 from Patent EP1572962.
AY203959 - Homo sapiens LP6347 mRNA, complete cds.
JD508088 - Sequence 489112 from Patent EP1572962.
JD053371 - Sequence 34395 from Patent EP1572962.
JD266698 - Sequence 247722 from Patent EP1572962.
JD101768 - Sequence 82792 from Patent EP1572962.
JD565509 - Sequence 546533 from Patent EP1572962.
JD257242 - Sequence 238266 from Patent EP1572962.
JD371804 - Sequence 352828 from Patent EP1572962.
JD338691 - Sequence 319715 from Patent EP1572962.
JD453244 - Sequence 434268 from Patent EP1572962.
JD218929 - Sequence 199953 from Patent EP1572962.
JD493466 - Sequence 474490 from Patent EP1572962.
JD350765 - Sequence 331789 from Patent EP1572962.
JD380191 - Sequence 361215 from Patent EP1572962.
JD222413 - Sequence 203437 from Patent EP1572962.
JD231309 - Sequence 212333 from Patent EP1572962.
JD437109 - Sequence 418133 from Patent EP1572962.
JD216009 - Sequence 197033 from Patent EP1572962.
JD462224 - Sequence 443248 from Patent EP1572962.
JD341840 - Sequence 322864 from Patent EP1572962.
JD102505 - Sequence 83529 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: C22orf6, KIAA1186, KIAA1658, NM_012429, NP_036561, O76054, Q53EQ2, Q6PD61, Q9ULN4, S14L2_HUMAN
UCSC ID: uc003ahr.3
RefSeq Accession: NM_012429
Protein: O76054 (aka S14L2_HUMAN or S142_HUMAN)
CCDS: CCDS13876.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_012429.3
exon count: 12CDS single in 3' UTR: no RNA size: 4303
ORF size: 1212CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2252.00frame shift in genome: no % Coverage: 99.54
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # 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.