Bloc1s5 (biogenesis of lysosomal organelles complex-1, subunit 5, muted) - Rat Genome Database

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Gene: Bloc1s5 (biogenesis of lysosomal organelles complex-1, subunit 5, muted) Mus musculus
Analyze
Symbol: Bloc1s5
Name: biogenesis of lysosomal organelles complex-1, subunit 5, muted
RGD ID: 1315694
MGI Page MGI
Description: Involved in anterograde synaptic vesicle transport. Acts upstream of or within developmental pigmentation; otolith morphogenesis; and vesicle-mediated transport. Part of BLOC-1 complex. Is active in microvesicle. Used to study Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 1; and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome. Orthologous to human BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 1810074A19Rik; biogenesis of lysosome-related organelles complex 1 subunit 5; biogenesis of organelles complex-1, subunit 5, muted; BLOC-1 subunit; BLOC-1 subunit 5; mu; Muted; protein Muted homolog
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391338,786,674 - 38,821,093 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1338,776,818 - 38,819,085 (-)EnsemblGRCm39 Ensembl
GRCm381338,602,698 - 38,637,117 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1338,592,842 - 38,635,109 (-)EnsemblGRCm38mm10GRCm38
MGSCv371338,694,575 - 38,726,978 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361338,610,172 - 38,642,575 (-)NCBIMGSCv36mm8
Celera1339,719,003 - 39,751,521 (-)NCBICelera
Cytogenetic Map13A3.3NCBI
cM Map1318.35NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axon cytoplasm  (IEA)
BLOC-1 complex  (IBA,IDA,ISO,ISS)
microvesicle  (IDA)
transport vesicle  (ISO,ISS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. MGDs mouse GO annotations MGD data from the GO Consortium
2. MGD IEA MGD IEA
3. Mouse MP Annotation Import Pipeline RGD automated import pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1912584   PMID:5367369   PMID:6696991   PMID:7719021   PMID:8830098   PMID:8889548   PMID:9714600   PMID:10072431   PMID:10193444   PMID:10349636   PMID:11042159   PMID:11076861  
PMID:11217851   PMID:11912185   PMID:12019270   PMID:12191018   PMID:12466851   PMID:12477932   PMID:12520002   PMID:12576321   PMID:12923531   PMID:15009730   PMID:15102850   PMID:15109702  
PMID:15265785   PMID:15489334   PMID:15702992   PMID:15782199   PMID:16141072   PMID:16141073   PMID:16760431   PMID:16919269   PMID:17182842   PMID:18799693   PMID:19144828   PMID:19546860  
PMID:20089890   PMID:21267068   PMID:21677750   PMID:21873635   PMID:21998198   PMID:22423091   PMID:22554196   PMID:24713699   PMID:25157109   PMID:25619597   PMID:25673877   PMID:26199316  
PMID:27927957   PMID:28344592   PMID:38355793  


Genomics

Comparative Map Data
Bloc1s5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391338,786,674 - 38,821,093 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1338,776,818 - 38,819,085 (-)EnsemblGRCm39 Ensembl
GRCm381338,602,698 - 38,637,117 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1338,592,842 - 38,635,109 (-)EnsemblGRCm38mm10GRCm38
MGSCv371338,694,575 - 38,726,978 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361338,610,172 - 38,642,575 (-)NCBIMGSCv36mm8
Celera1339,719,003 - 39,751,521 (-)NCBICelera
Cytogenetic Map13A3.3NCBI
cM Map1318.35NCBI
BLOC1S5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3868,013,567 - 8,064,414 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl68,013,567 - 8,064,396 (-)EnsemblGRCh38hg38GRCh38
GRCh3768,013,800 - 8,064,647 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3667,959,213 - 8,009,646 (-)NCBINCBI36Build 36hg18NCBI36
Celera69,243,487 - 9,293,945 (-)NCBICelera
Cytogenetic Map6p24.3NCBI
HuRef67,891,314 - 7,942,110 (-)NCBIHuRef
CHM1_168,015,917 - 8,066,808 (-)NCBICHM1_1
T2T-CHM13v2.067,882,322 - 7,933,150 (-)NCBIT2T-CHM13v2.0
Bloc1s5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81726,377,549 - 26,402,869 (+)NCBIGRCr8
mRatBN7.21726,171,965 - 26,197,276 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1726,172,018 - 26,197,251 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1726,038,801 - 26,062,979 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01727,642,381 - 27,666,559 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01725,986,895 - 26,011,742 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01726,808,193 - 26,833,257 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1726,808,330 - 26,833,247 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01728,724,370 - 28,749,293 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41732,240,737 - 32,266,040 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11732,243,620 - 32,267,921 (+)NCBI
Celera1725,813,675 - 25,838,976 (+)NCBICelera
Cytogenetic Map17p12NCBI
Bloc1s5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554655,910,160 - 5,942,662 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554655,910,095 - 5,943,996 (+)NCBIChiLan1.0ChiLan1.0
BLOC1S5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2522,651,799 - 22,705,276 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1618,648,711 - 18,702,189 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v067,852,340 - 7,902,880 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.168,133,721 - 8,184,127 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl68,133,721 - 8,184,194 (-)Ensemblpanpan1.1panPan2
BLOC1S5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1357,860,336 - 7,998,461 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl357,955,923 - 7,998,505 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha357,869,116 - 8,005,248 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0357,945,991 - 8,081,418 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl358,039,971 - 8,081,461 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1357,800,918 - 7,929,905 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0357,828,413 - 7,964,466 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0359,161,008 - 9,297,160 (-)NCBIUU_Cfam_GSD_1.0
Bloc1s5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494616,281,598 - 16,315,490 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365344,550,592 - 4,584,482 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365344,550,592 - 4,584,482 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BLOC1S5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl75,321,655 - 5,363,538 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.175,324,467 - 5,363,346 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.275,430,192 - 5,467,711 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BLOC1S5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11764,095,766 - 64,149,918 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1764,095,826 - 64,147,537 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660448,004,191 - 8,057,668 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bloc1s5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475617,595,470 - 17,631,433 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475617,595,404 - 17,628,972 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Bloc1s5
1459 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:368
Count of miRNA genes:307
Interacting mature miRNAs:329
Transcripts:ENSMUST00000035899
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300561Heal7_mwound healing/regeneration 7 (mouse)Not determined133614482070144904Mouse
1357591Tesq1_mtestis weight QTL 1 (mouse)Not determined132061551255720517Mouse
1301015Sysbp2_msystolic blood pressure 2 (mouse)Not determined132047761259821605Mouse
12738439Twq4_mtestis weight QTL 4 (mouse)133112911065129110Mouse
4142009Pregq3_mpregnancy QTL 3 (mouse)Not determined132061551272385189Mouse
1357587Pfat3_mpredicted fat percentage 3 (mouse)Not determined133610153070101640Mouse
10401111Pgia40_mproteoglycan induced arthritis 40 (mouse)Not determined132791846961918560Mouse
10412235Scgq5_mspontaneous crescentic glomerulonephritis QTL 5 (mouse)Not determined133606090896239162Mouse
10755517Chol15_mcholesterol 15 (mouse)133096946764969467Mouse
10402494Igmsc1_mimmunoglobulin M secreting cells 1 (mouse)Not determined131716854544918560Mouse
13463469Gssq1_mglomerulosclerosis severity QTL 1 (mouse)131906090853061050Mouse
1301299Sluc23_msusceptibility to lung cancer 23 (mouse)Not determined133492194368922081Mouse
12880423V25Dq7_mvitamin D inactive form serum level QTL 7 (mouse)131958398353583983Mouse
1558898Hpi1_mhapatic PMN infiltration 1 (mouse)Not determined13441402553101640Mouse
4142489Ath25_matherosclerosis 25 (mouse)Not determined2583652959836529Mouse
10755533Chol18_mcholesterol 18 (mouse)133096946764969467Mouse
1301880Hypt_mhypertension (mouse)Not determined131815679252156924Mouse
10045618Heal17_mwound healing/regeneration 17 (mouse)Not determined132074693954747056Mouse
10045621Heal21_mwound healing/regeneration 21 (mouse)Not determined132821737962217515Mouse
1300862Cfbw5_mcystic fibrosis body weight 5 (mouse)Not determined133872035872720517Mouse
26884393Humsd7_mhumerus midshaft diameter 7, 16 week (mouse)13395000076048119Mouse
1301984Pbd2_mpeak bone density 2 (mouse)Not determined131718950838947406Mouse
1300710Pcd4ts2_mp-glycoprotein positive CD4 T cell subset 2 (mouse)Not determined132821044262210544Mouse
1301734Acsns2_mAngiostrongylus costaricensis nematode susceptibility 2 (mouse)Not determined133610153070101640Mouse
14696729Kidlq2_mkidney weight, left QTL 2 (mouse)133134473665344736Mouse
4142147Mvwf4_mmodifier of von Willebrand factor 4 (mouse)Not determined20477612112898424Mouse
1357802Vtbt15_mvertebral trabecular bone trait 15 (mouse)Not determined132821737962217515Mouse


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSMUST00000035899   ⟹   ENSMUSP00000036614
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1338,782,817 - 38,819,085 (-)Ensembl
GRCm38.p6 Ensembl1338,598,841 - 38,635,109 (-)Ensembl
Ensembl Acc Id: ENSMUST00000224115   ⟹   ENSMUSP00000153650
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1338,776,818 - 38,819,068 (-)Ensembl
GRCm38.p6 Ensembl1338,592,842 - 38,635,092 (-)Ensembl
Ensembl Acc Id: ENSMUST00000224902   ⟹   ENSMUSP00000153368
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1338,795,810 - 38,819,037 (-)Ensembl
GRCm38.p6 Ensembl1338,611,834 - 38,635,061 (-)Ensembl
RefSeq Acc Id: NM_139063   ⟹   NP_620702
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391338,786,677 - 38,819,068 (-)NCBI
GRCm381338,602,701 - 38,635,092 (-)NCBI
MGSCv371338,694,575 - 38,726,978 (-)RGD
Celera1339,719,003 - 39,751,521 (-)RGD
cM Map13 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006516573   ⟹   XP_006516636
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391338,786,674 - 38,821,093 (-)NCBI
GRCm381338,602,698 - 38,637,117 (-)NCBI
Sequence:
RefSeq Acc Id: NP_620702   ⟸   NM_139063
- UniProtKB: Q8R015 (UniProtKB/Swiss-Prot),   Q3TCP2 (UniProtKB/Swiss-Prot),   Q8CAC9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006516636   ⟸   XM_006516573
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSMUSP00000153368   ⟸   ENSMUST00000224902
Ensembl Acc Id: ENSMUSP00000153650   ⟸   ENSMUST00000224115
Ensembl Acc Id: ENSMUSP00000036614   ⟸   ENSMUST00000035899

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8R015-F1-model_v2 AlphaFold Q8R015 1-185 view protein structure

Promoters
RGD ID:8680132
Promoter ID:EPDNEW_M18097
Type:initiation region
Name:Bloc1s5_1
Description:Mus musculus biogenesis of lysosomal organelles complex-1, subunit5, muted , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381338,635,064 - 38,635,124EPDNEW
RGD ID:6824174
Promoter ID:MM_KWN:13860
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day2,   3T3L1_Day3,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:ENSMUST00000068627,   NM_139063,   UC007QDV.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361338,726,679 - 38,727,179 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:2178598 AgrOrtholog
Ensembl Genes ENSMUSG00000038982 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000035899 ENTREZGENE
  ENSMUST00000035899.8 UniProtKB/Swiss-Prot
  ENSMUST00000224115.2 UniProtKB/TrEMBL
  ENSMUST00000224902.2 UniProtKB/Swiss-Prot
InterPro Bloc1s5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:17828 UniProtKB/Swiss-Prot
MGD MGI:2178598 ENTREZGENE
NCBI Gene 17828 ENTREZGENE
PANTHER BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1 SUBUNIT 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR31784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Muted UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Bloc1s5 PhenoGen
PIRSF BLOC-1_complex_muted_subunit UniProtKB/Swiss-Prot
UniProt BL1S5_MOUSE UniProtKB/Swiss-Prot
  Q3TB02_MOUSE UniProtKB/TrEMBL
  Q3TCP2 ENTREZGENE
  Q8CAC9 ENTREZGENE
  Q8R015 ENTREZGENE
UniProt Secondary Q3TCP2 UniProtKB/Swiss-Prot
  Q8CAC9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-12-03 Bloc1s5  biogenesis of lysosomal organelles complex-1, subunit 5, muted    biogenesis of organelles complex-1, subunit 5, muted  Symbol and/or name change 5135510 APPROVED
2012-08-21 Bloc1s5  biogenesis of organelles complex-1, subunit 5, muted  Muted  muted  Symbol and/or name change 5135510 APPROVED