Human Gene BLOC1S1 (ENST00000547076.5_1) from GENCODE V47lift37
  Description: biogenesis of lysosomal organelles complex 1 subunit 1, transcript variant 3 (from RefSeq NR_037656.2)
Gencode Transcript: ENST00000547076.5_1
Gencode Gene: ENSG00000135441.8_10
Transcript (Including UTRs)
   Position: hg19 chr12:56,110,076-56,113,487 Size: 3,412 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr12:56,112,891-56,113,393 Size: 503 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:56,110,076-56,113,487)mRNA (may differ from genome)Protein (75 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: G8JLQ3_HUMAN
DESCRIPTION: SubName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 1;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -222.10515-0.431 Picture PostScript Text
3' UTR -27.4094-0.291 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
IPR009395 - GCN5L1

Pfam Domains:
PF06320 - GCN5-like protein 1 (GCN5L1)

ModBase Predicted Comparative 3D Structure on G8JLQ3
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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 DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0031083 BLOC-1 complex


-  Descriptions from all associated GenBank mRNAs
  D64007 - Homo sapiens mRNA for RT14, complete cds.
AK307069 - Homo sapiens cDNA, FLJ97017.
BC066340 - Homo sapiens cDNA clone IMAGE:5278406, containing frame-shift errors.
AK307141 - Homo sapiens cDNA, FLJ97089.
AK096656 - Homo sapiens cDNA FLJ39337 fis, clone OCBBF2017888, moderately similar to 11-CIS RETINOL DEHYDROGENASE (EC 1.1.1.105).
BC130640 - Homo sapiens biogenesis of lysosomal organelles complex-1, subunit 1, mRNA (cDNA clone MGC:163512 IMAGE:40146671), complete cds.
BC132795 - Homo sapiens biogenesis of lysosomal organelles complex-1, subunit 1, mRNA (cDNA clone MGC:164426 IMAGE:40146817), complete cds.
S82447 - GCN5-like 1=GCN5 homolog/putative regulator of transcriptional activation {clone GCN5L1} [human, mRNA, 545 nt].
KJ901448 - Synthetic construct Homo sapiens clone ccsbBroadEn_10842 BLOC1S1 gene, encodes complete protein.
AB527695 - Synthetic construct DNA, clone: pF1KB6789, Homo sapiens BLOC1S1 gene for biogenesis of lysosomal organelles complex-1, subunit 1, without stop codon, in Flexi system.
DQ585016 - Homo sapiens piRNA piR-52128, complete sequence.
JD156463 - Sequence 137487 from Patent EP1572962.
JD055021 - Sequence 36045 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BLOC1S1 , ENST00000547076.1, ENST00000547076.2, ENST00000547076.3, ENST00000547076.4, G8JLQ3, G8JLQ3_HUMAN, NR_037656, uc324xzf.1
UCSC ID: ENST00000547076.5_1
RefSeq Accession: NR_037656.2
Protein: G8JLQ3

-  Gene Model Information
  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.