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BLOC1S5-TXNDC5 Gene

protein-coding   GIFtS: 17
GCID: GC06M007890

BLOC1S5-TXNDC5 Readthrough (NMD Candidate)

(Previous name: MUTED-TXNDC5 readthrough (non-protein coding))
(Previous symbol: MUTED-TXNDC5)
  Search for BLOC1S5-TXNDC5
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
BLOC1S5-TXNDC5 Readthrough (NMD Candidate)1 2
MUTED-TXNDC51 2
MUTED-TXNDC5 Readthrough (Non-Protein Coding)1

External Ids:    HGNC: 420011   Entrez Gene: 1005268362   Ensembl: ENSG000002590407   UniProtKB: H3BN574   

Export aliases for BLOC1S5-TXNDC5 gene to outside databases

Previous GC identifers: GC06U902279 GC06M007886 GC06M007888


(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 BLOC1S5-TXNDC5 Gene:
This locus represents naturally occurring read-through transcription between the neighboring MUTED (muted homolog)
and TXNDC5 (thioredoxin domain containing 5) genes on chromosome 6. The read-through transcript is a candidate
for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. (provided by RefSeq, Dec
2010)

GeneCards Summary for BLOC1S5-TXNDC5 Gene:
BLOC1S5-TXNDC5 (BLOC1S5-TXNDC5 readthrough (NMD candidate)) is a protein-coding gene. An important paralog of this gene is BLOC1S5.




(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for BLOC1S5-TXNDC5
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BLOC1S5-TXNDC5


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

Entrez Gene cytogenetic band: 6p   Ensembl cytogenetic band:  6p24.3   HGNC cytogenetic band: 6p24.3

BLOC1S5-TXNDC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BLOC1S5-TXNDC5 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M007890:  view genomic region     (about GC identifiers)

Start:
7,881,483 bp from pter      End:
8,064,647 bp from pter
Size:
183,165 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for BLOC1S5-TXNDC5

(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, Cloud-Clone Corp, and/or others.)
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UniProtKB/TrEMBL: H3BN57 (See protein sequence)
Recommended Name: Protein BLOC1S5-TXNDC5  
Size: 136 amino acids; 15343 Da
Caution: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered
as preliminary data


ENSEMBL proteins: 
 ENSP00000454697  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR017243 Bloc1s5

Graphical View of Domain Structure for InterPro Entry H3BN57

ProtoNet protein and cluster: H3BN57


BLOC1S5-TXNDC5 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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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0030133transport vesicle ----
GO:0031083BLOC-1 complex ----

BLOC1S5-TXNDC5 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 BLOC1S5-TXNDC5
Interactions:

    Search GeneGlobe Interaction Network for BLOC1S5-TXNDC5

(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 Tocris compounds for BLOC1S5-TXNDC5



(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,
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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1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000439343(uc003mxw.3)
miRNA
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GeneLoc Exon Structure


(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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BLOC1S5-TXNDC5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
BLOC1S5-TXNDC5 Expression
About this image

BLOC1S5-TXNDC5 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --
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(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 chordates.

Orthologs for BLOC1S5-TXNDC5 gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves BLOC1S56
Gallus gallus muted homolog (mouse) (BLOC1S5), mRN...
40(a)
1 → many
2(64404617-64418127)
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
41(a)
1 → many
GL343209.1(968989-979502)
zebrafish
(Danio rerio)
Actinopterygii bloc1s56
biogenesis of lysosomal organelles complex-1, subu...
37(a)
1 → many
24(8105504-8109498) ENSDARG00000058622
        Species with no ortholog for BLOC1S5-TXNDC5

ENSEMBL Gene Tree for BLOC1S5-TXNDC5 (if available)
TreeFam Gene Tree for BLOC1S5-TXNDC5 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for BLOC1S5-TXNDC5 gene
BLOC1S52  
1 SIMAP similar gene for BLOC1S5-TXNDC5 using alignment to 1 protein entry:     H3BN57_HUMAN:
BLOC1S5

BLOC1S5-TXNDC5 for paralogs           About GeneDecksing



(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 BLOC1S5-TXNDC5 (see all 2097)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1400797221,2
C--7913078(+) ATTTCC/TGCAAT 1 -- int10--------
rs1163328201,2
F--7913141(+) CCCCTC/TGCAGC 1 -- int11Minor allele frequency- T:0.01NA 120
rs1927726931,2
--7913303(+) TCTGCG/TGGAGA 1 -- int10--------
rs16323461,2
C,F,H--7913546(-) GCTTTT/CGGCTT 1 -- int117Minor allele frequency- C:0.17NS EA NA CSA WA 2310
rs16206561,2
C,F,A,H--7913556(+) CATGAA/GCTCCC 1 -- int126Minor allele frequency- G:0.20NS EA NA WA CSA 2482
rs1463141811,2
--7913574(+) TCCCCC/TGCCAA 1 -- int10--------
rs1848543631,2
--7913641(+) ATATCC/TCTGCC 1 -- int10--------
rs121949311,2
C,F,A,H--7913683(+) ctcacG/Agataa 1 -- int110Minor allele frequency- A:0.20NS EA NA WA 1240
rs1485032071,2
C--7913876(+) GCGACA/GTAACA 1 -- int10--------
rs1422350981,2
--7913948(+) CAGGAA/GAAGCA 1 -- int10--------

HapMap Linkage Disequilibrium report for BLOC1S5-TXNDC5 (7881483 - 8064647 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for BLOC1S5-TXNDC5: --
Site Specific Mutation Identification with PCR Assays
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(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.)
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  --

(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 BLOC1S5-TXNDC5 gene integrated from 10 sources:
(articles sorted by number of sources associating them with BLOC1S5-TXNDC5)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Genetics of coronary artery calcification among African Americans, a meta-analysis. (PubMed id 23870195)1 Wojczynski M.K....Reilly M.P. (BMC Med. Genet. 2013)
  2. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)1 Prakash T....Taylor T.D. (PLoS ONE 2010)
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  4. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)

(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)
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Entrez Gene: 100526836 HGNC: 42001 Ensembl:ENSG00000259040 euGenes: HUgn100526836 ECgene: BLOC1S5-TXNDC5
H-InvDB: BLOC1S5-TXNDC5

(According to HUGE)
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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)
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  --

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for BLOC1S5-TXNDC5 gene:
Search GeneIP for patents involving BLOC1S5-TXNDC5

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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