Bloc1s1 (biogenesis of lysosomal organelles complex-1, subunit 1) - Rat Genome Database

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Gene: Bloc1s1 (biogenesis of lysosomal organelles complex-1, subunit 1) Rattus norvegicus
Analyze
Symbol: Bloc1s1 (Ensembl: Rdh5)
Name: biogenesis of lysosomal organelles complex-1, subunit 1 (Ensembl:retinol dehydrogenase 5)
RGD ID: 1307564
Description: Predicted to enable protein-lysine-acetyltransferase activity. Predicted to be involved in several processes, including anterograde synaptic vesicle transport; lysosome localization; and peptidyl-lysine acetylation. Predicted to be located in cytosol; early endosome; and mitochondrion. Predicted to be part of BLOC-1 complex and BORC complex. Orthologous to human BLOC1S1 (biogenesis of lysosomal organelles complex 1 subunit 1); INTERACTS WITH (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: biogenesis of lysosome-related organelles complex 1 subunit 1; biogenesis of lysosome-related organelles complex-1, subunit 1; BLOC-1 subunit 1; LOC288785
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr871,931,985 - 1,935,614 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl71,925,335 - 1,936,049 (-)EnsemblGRCr8
mRatBN7.271,347,495 - 1,351,103 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl71,340,934 - 1,351,558 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx74,111,762 - 4,115,370 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.075,987,422 - 5,991,030 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.076,288,929 - 6,292,533 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.073,342,630 - 3,346,238 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl73,342,630 - 3,346,238 (-)Ensemblrn6Rnor6.0
Rnor_5.073,312,814 - 3,316,422 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.472,218,117 - 2,221,738 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera71,218,486 - 1,222,149 (-)NCBICelera
RGSC_v3.172,218,116 - 2,221,735 (-)NCBI
Cytogenetic Map7q11NCBI
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
axon cytoplasm  (IEA)
BLOC-1 complex  (IBA,IEA,ISO,ISS)
BORC complex  (ISO,ISS)
cytosol  (IEA,ISO,ISS)
early endosome  (ISO)
lysosomal membrane  (IEA)
mitochondrial intermembrane space  (IEA,ISO,ISS)
mitochondrial matrix  (IEA,ISO,ISS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
2. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
3. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Comprehensive gene review and curation RGD comprehensive gene curation
Additional References at PubMed
PMID:15102850   PMID:15277470   PMID:15496412   PMID:16837549   PMID:18614015   PMID:21998198   PMID:22203680   PMID:22309213   PMID:23376485   PMID:23580065   PMID:25898167   PMID:28526709  
PMID:31033247  


Genomics

Comparative Map Data
Bloc1s1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr871,931,985 - 1,935,614 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl71,925,335 - 1,936,049 (-)EnsemblGRCr8
mRatBN7.271,347,495 - 1,351,103 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl71,340,934 - 1,351,558 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx74,111,762 - 4,115,370 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.075,987,422 - 5,991,030 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.076,288,929 - 6,292,533 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.073,342,630 - 3,346,238 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl73,342,630 - 3,346,238 (-)Ensemblrn6Rnor6.0
Rnor_5.073,312,814 - 3,316,422 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.472,218,117 - 2,221,738 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera71,218,486 - 1,222,149 (-)NCBICelera
RGSC_v3.172,218,116 - 2,221,735 (-)NCBI
Cytogenetic Map7q11NCBI
BLOC1S1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381255,716,046 - 55,719,703 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1255,716,033 - 55,720,087 (+)Ensemblhg38GRCh38
GRCh371256,109,830 - 56,113,487 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361254,396,088 - 54,399,751 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341254,396,087 - 54,399,751NCBI
Celera1255,762,291 - 55,765,956 (+)NCBICelera
Cytogenetic Map12q13.2NCBI
HuRef1253,148,637 - 53,152,306 (+)NCBIHuRef
CHM1_11256,076,609 - 56,080,280 (+)NCBICHM1_1
T2T-CHM13v2.01255,682,682 - 55,686,337 (+)NCBIT2T-CHM13v2.0
Bloc1s1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910128,755,783 - 128,759,393 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10128,753,751 - 128,759,904 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm3810128,919,914 - 128,923,524 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10128,917,882 - 128,924,035 (-)Ensemblmm10GRCm38
MGSCv3710128,356,970 - 128,360,580 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv3610128,322,863 - 128,326,473 (-)NCBIMGSCv36mm8
Celera10131,312,596 - 131,316,206 (-)NCBICelera
Cytogenetic Map10D3NCBI
cM Map1077.19NCBI
Bloc1s1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554583,352,012 - 3,365,080 (+)Ensembl
ChiLan1.0NW_0049554583,352,442 - 3,356,224 (+)NCBIChiLan1.0ChiLan1.0
BLOC1S1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21038,608,599 - 38,612,288 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11238,605,369 - 38,609,054 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01233,191,882 - 33,195,566 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11233,916,401 - 33,920,078 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1233,911,309 - 33,920,506 (-)EnsemblpanPan2panpan1.1
BLOC1S1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.110116,993 - 120,244 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha10179,376 - 182,638 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.010124,247 - 127,509 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl10123,356 - 132,465 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.110101,954 - 105,205 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.010345,078 - 348,322 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.010468,943 - 472,212 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Bloc1s1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494558,679,365 - 58,683,834 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936646186,031 - 190,915 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936646186,422 - 190,870 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BLOC1S1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl521,147,767 - 21,160,735 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1521,156,460 - 21,160,738 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2522,636,711 - 22,640,579 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BLOC1S1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11151,663,562 - 51,667,363 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037194,327,270 - 194,330,940 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bloc1s1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462480212,290,688 - 12,304,712 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462480212,299,866 - 12,304,295 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Bloc1s1
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v11156,396,667 - 156,400,283 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in Bloc1s1
145 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:37
Count of miRNA genes:35
Interacting mature miRNAs:36
Transcripts:ENSRNOT00000010380
Prediction methods:Microtar, 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 (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
61410Bw19Body weight QTL 196.20.001body mass (VT:0001259)body weight (CMO:0000012)7166965846669658Rat
1300176Hrtrt10Heart rate QTL 103.19heart pumping trait (VT:2000009)heart rate (CMO:0000002)7123748937Rat
2290372Gluco33Glucose level QTL 332.71blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)7131777942Rat
1300149Cm6Cardiac mass QTL 64.09heart mass (VT:0007028)heart left ventricle weight to body weight ratio (CMO:0000530)71104117804Rat
631503Bp102Blood pressure QTL 1021.9arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7170952746709527Rat
634336Anxrr17Anxiety related response QTL 173.66locomotor behavior trait (VT:0001392)number of entries into a discrete space in an experimental apparatus (CMO:0000960)71509236116977875Rat
9590142Scort5Serum corticosterone level QTL 524.40.001blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)7132612984Rat
1582260Bw72Body weight QTL 723.20.0043body mass (VT:0001259)body weight (CMO:0000012)7139960528Rat
1582261Bw69Body weight QTL 693.20.0048body mass (VT:0001259)body weight (CMO:0000012)7139960528Rat
1582262Bw75Body weight QTL 7530.0038body mass (VT:0001259)body weight (CMO:0000012)7139960528Rat
2298550Neuinf6Neuroinflammation QTL 63.3nervous system integrity trait (VT:0010566)spinal cord RT1-B protein level (CMO:0002132)7129716167Rat
724560Plsm3Polydactyly-luxate syndrome (PLS) morphotypes QTL 30.0003tibia length (VT:0004357)tibia length (CMO:0000450)7134650782Rat
7411566Bw136Body weight QTL 13610.40.001body mass (VT:0001259)body weight gain (CMO:0000420)7132612984Rat


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
16 12 67 164 91 90 59 92 59 6 356 192 11 143 81 92 31 17 17

Sequence


Ensembl Acc Id: ENSRNOT00000010380   ⟹   ENSRNOP00000010380
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl71,931,986 - 1,935,606 (-)Ensembl
mRatBN7.2 Ensembl71,347,495 - 1,351,115 (-)Ensembl
Rnor_6.0 Ensembl73,342,630 - 3,346,238 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000081756   ⟹   ENSRNOP00000071951
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl71,925,335 - 1,930,544 (-)Ensembl
mRatBN7.2 Ensembl71,340,934 - 1,346,809 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000099202   ⟹   ENSRNOP00000092714
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl71,931,986 - 1,936,049 (-)Ensembl
mRatBN7.2 Ensembl71,347,495 - 1,351,558 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000105370   ⟹   ENSRNOP00000081938
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl71,930,055 - 1,935,606 (-)Ensembl
mRatBN7.2 Ensembl71,345,564 - 1,351,115 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000116884   ⟹   ENSRNOP00000079412
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl71,931,986 - 1,935,602 (-)Ensembl
mRatBN7.2 Ensembl71,347,495 - 1,351,111 (-)Ensembl
RefSeq Acc Id: NM_001105941   ⟹   NP_001099411
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr871,931,986 - 1,935,594 (-)NCBI
mRatBN7.271,347,495 - 1,351,103 (-)NCBI
Rnor_6.073,342,630 - 3,346,238 (-)NCBI
Rnor_5.073,312,814 - 3,316,422 (-)NCBI
RGSC_v3.472,218,117 - 2,221,738 (-)RGD
Celera71,218,486 - 1,222,149 (-)NCBI
Sequence:
RefSeq Acc Id: XM_063263092   ⟹   XP_063119162
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr871,931,985 - 1,935,614 (-)NCBI
RefSeq Acc Id: XM_063263093   ⟹   XP_063119163
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr871,931,985 - 1,935,508 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001099411 (Get FASTA)   NCBI Sequence Viewer  
  XP_063119162 (Get FASTA)   NCBI Sequence Viewer  
  XP_063119163 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein D3ZKU7 (Get FASTA)   NCBI Sequence Viewer  
  EDL84784 (Get FASTA)   NCBI Sequence Viewer  
  EDL84785 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000010380
  ENSRNOP00000010380.4
RefSeq Acc Id: NP_001099411   ⟸   NM_001105941
- UniProtKB: D3ZKU7 (UniProtKB/Swiss-Prot),   A0A8I6AE76 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000010380   ⟸   ENSRNOT00000010380
Ensembl Acc Id: ENSRNOP00000071951   ⟸   ENSRNOT00000081756
Ensembl Acc Id: ENSRNOP00000081938   ⟸   ENSRNOT00000105370
Ensembl Acc Id: ENSRNOP00000092714   ⟸   ENSRNOT00000099202
Ensembl Acc Id: ENSRNOP00000079412   ⟸   ENSRNOT00000116884
RefSeq Acc Id: XP_063119162   ⟸   XM_063263092
- Peptide Label: isoform X1
- UniProtKB: A6KSK8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063119163   ⟸   XM_063263093
- Peptide Label: isoform X1
- UniProtKB: A6KSK8 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-D3ZKU7-F1-model_v2 AlphaFold D3ZKU7 1-125 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13694959
Promoter ID:EPDNEW_R5483
Type:initiation region
Name:Bloc1s1_1
Description:biogenesis of lysosomal organelles complex-1, subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.073,346,237 - 3,346,297EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1307564 AgrOrtholog
BioCyc Gene G2FUF-35321 BioCyc
Ensembl Genes ENSRNOG00000007784 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSRNOT00000010380 ENTREZGENE
  ENSRNOT00000010380.8 UniProtKB/Swiss-Prot
InterPro BLOC1S1 UniProtKB/Swiss-Prot
KEGG Report rno:288785 UniProtKB/Swiss-Prot
NCBI Gene 288785 ENTREZGENE
PANTHER BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1 SUBUNIT 1 UniProtKB/Swiss-Prot
  PTHR13073 UniProtKB/Swiss-Prot
Pfam GCN5L1 UniProtKB/Swiss-Prot
PhenoGen Bloc1s1 PhenoGen
RatGTEx ENSRNOG00000007784 RatGTEx
UniProt A0A8I5ZQV1_RAT UniProtKB/TrEMBL
  A0A8I5ZSQ1_RAT UniProtKB/TrEMBL
  A0A8I6AE76 ENTREZGENE, UniProtKB/TrEMBL
  A6KSK8 ENTREZGENE, UniProtKB/TrEMBL
  BL1S1_RAT UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2008-09-25 Bloc1s1  biogenesis of lysosomal organelles complex-1, subunit 1  Bloc1s1  biogenesis of lysosome-related organelles complex-1, subunit 1   Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-04-30 Bloc1s1  biogenesis of lysosome-related organelles complex-1, subunit 1   Bloc1s1_predicted  biogenesis of lysosome-related organelles complex-1, subunit 1 (predicted)  'predicted' is removed 2292626 APPROVED
2005-01-12 Bloc1s1_predicted  biogenesis of lysosome-related organelles complex-1, subunit 1 (predicted)      Symbol and Name status set to approved 70820 APPROVED