Bloc1s4 (biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino) - Rat Genome Database

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Gene: Bloc1s4 (biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino) Mus musculus
Analyze
Symbol: Bloc1s4
Name: biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
RGD ID: 1332125
MGI Page MGI
Description: Involved in anterograde synaptic vesicle transport. Acts upstream of or within melanosome organization; neuromuscular process controlling balance; and platelet aggregation. Located in cytoplasm. Part of BLOC-1 complex. Used to study Hermansky-Pudlak syndrome. Orthologous to human BLOC1S4 (biogenesis of lysosomal organelles complex 1 subunit 4).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2610101N07Rik; biogenesis of lysosome-related organelles complex 1 subunit 4; biogenesis of organelles complex-1, subunit 4, cappuccino; Bl; BLOC-1 subunit 4; Blos4; C; cappuccino; Cno; protein cappuccino homolog
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39536,904,718 - 36,906,023 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl536,904,722 - 36,905,994 (-)EnsemblGRCm39 Ensembl
GRCm38536,747,374 - 36,748,679 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl536,747,378 - 36,748,650 (-)EnsemblGRCm38mm10GRCm38
MGSCv37537,138,613 - 37,139,918 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36537,035,419 - 37,036,908 (-)NCBIMGSCv36mm8
Celera534,198,608 - 34,199,913 (-)NCBICelera
Cytogenetic Map5B3NCBI
cM Map519.24NCBI
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
BLOC-1 complex  (IBA,IDA,ISO)
cytoplasm  (IDA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
2. MGDs mouse GO annotations MGD data from the GO Consortium
3. MGD IEA MGD IEA
4. Mouse MP Annotation Import Pipeline RGD automated import pipeline
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10349636   PMID:11042159   PMID:11076861   PMID:11110696   PMID:11125038   PMID:11217851   PMID:11597144   PMID:12445206   PMID:12466851   PMID:12477932   PMID:12576321   PMID:15102850  
PMID:15265785   PMID:15782199   PMID:16141072   PMID:16141073   PMID:16948132   PMID:19546860   PMID:20089890   PMID:21873635   PMID:21998198   PMID:32554809  


Genomics

Comparative Map Data
Bloc1s4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39536,904,718 - 36,906,023 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl536,904,722 - 36,905,994 (-)EnsemblGRCm39 Ensembl
GRCm38536,747,374 - 36,748,679 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl536,747,378 - 36,748,650 (-)EnsemblGRCm38mm10GRCm38
MGSCv37537,138,613 - 37,139,918 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36537,035,419 - 37,036,908 (-)NCBIMGSCv36mm8
Celera534,198,608 - 34,199,913 (-)NCBICelera
Cytogenetic Map5B3NCBI
cM Map519.24NCBI
BLOC1S4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3846,716,174 - 6,717,664 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl46,716,174 - 6,717,664 (+)EnsemblGRCh38hg38GRCh38
GRCh3746,717,901 - 6,719,391 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3646,768,743 - 6,770,288 (+)NCBINCBI36Build 36hg18NCBI36
Celera46,619,850 - 6,621,391 (+)NCBICelera
Cytogenetic Map4p16.1NCBI
HuRef46,649,513 - 6,651,054 (+)NCBIHuRef
CHM1_146,716,222 - 6,717,763 (+)NCBICHM1_1
T2T-CHM13v2.046,691,231 - 6,692,721 (+)NCBIT2T-CHM13v2.0
Bloc1s4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81478,267,735 - 78,269,035 (+)NCBIGRCr8
mRatBN7.21474,043,025 - 74,044,325 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1474,043,015 - 74,044,531 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1478,485,295 - 78,486,595 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01479,726,145 - 79,727,445 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01476,171,119 - 76,172,419 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01479,013,808 - 79,015,108 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1479,013,807 - 79,015,112 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01487,207,216 - 87,208,516 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41479,624,027 - 79,625,327 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11479,626,441 - 79,627,718 (+)NCBI
Celera1472,981,512 - 72,982,812 (+)NCBICelera
Cytogenetic Map14q21NCBI
Bloc1s4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555143,698,644 - 3,699,227 (-)NCBIChiLan1.0ChiLan1.0
BLOC1S4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v236,983,342 - 6,987,293 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan146,911,399 - 6,915,349 (+)NCBINHGRI_mPanPan1
PanPan1.146,787,798 - 6,789,100 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl46,787,943 - 6,788,596 (+)Ensemblpanpan1.1panPan2
BLOC1S4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1358,822,405 - 58,823,770 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl358,822,482 - 58,823,138 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha361,470,267 - 61,471,603 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0359,289,370 - 59,290,706 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl359,289,396 - 59,290,360 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1358,792,106 - 58,793,442 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0358,994,357 - 58,995,693 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0359,342,946 - 59,344,282 (+)NCBIUU_Cfam_GSD_1.0
Bloc1s4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528564,916,598 - 64,917,820 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647718,618,499 - 18,619,140 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647718,618,330 - 18,619,512 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BLOC1S4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl84,092,050 - 4,095,772 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.184,093,619 - 4,095,790 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.283,145,135 - 3,146,221 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BLOC1S4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12742,836,231 - 42,837,514 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2742,836,366 - 42,837,016 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604789,643,637 - 89,645,080 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bloc1s4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475523,031,649 - 23,033,282 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Bloc1s4
54 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:144
Count of miRNA genes:125
Interacting mature miRNAs:129
Transcripts:ENSMUST00000071949
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
15039371Nmrs21_mNAFLD-associated magnetic resonance shift 21 (mouse)5350482337504823Mouse
1301806Actd2_mactivity-distance traveled 2 (mouse)Not determined5538452039384652Mouse
4141207Imrfq1_mimmune response to Factor IX QTL 1 (mouse)Not determined5812411742124239Mouse
1301693Sle6_msystemic lupus erythematosus susceptibility 6 (mouse)Not determined5889069387841837Mouse
1357478Kdnw1_mkidney weight 1 (mouse)Not determined5891594940529869Mouse
14696730Kidlq1_mkidney weight, left QTL 1 (mouse)51356315247563152Mouse
1301685Estq2_mestradiol regulated response QTL 2 (mouse)Not determined51563408449634190Mouse
1300719Iba5_minduction of brown adipocytes 5 (mouse)Not determined52068699354687134Mouse
1301776Skts3_mskin tumor susceptibility 3 (mouse)Not determined52166729555667403Mouse
11537368Hmtb10_mhemostasis and thrombosis 10 (mouse)52210082354500318Mouse
11537367Hmtb11_mhemostasis and thrombosis 11 (mouse)52210082364806579Mouse
11341716Rvfs3_mRift Valley fever susceptibility 3 (mouse)526441234138455402Mouse
1300701Cd8ts1_mCD8 T cell subset 1 (mouse)Not determined52721534861215451Mouse
1301555Alcp10_malcohol preference locus 10 (mouse)Not determined53102427565024480Mouse
1301403Alcp9_malcohol preference locus 9 (mouse)Not determined53102427565024480Mouse
11353827Hplq1_mhot plate latency 1 (mouse)53157045865570458Mouse
4140990Lgq6_mlate growth QTL 6 (mouse)Not determined32133234100777931Mouse
4141219W10q16_mweight 10 weeks QTL 16 (mouse)Not determined32133234100777931Mouse
10043995Hbnr9_mHeligmosomoides bakeri nematode resistance 9 (mouse)Not determined53348866767488876Mouse
1301845Lxw4_mlupus BXSB x NZW 4 (mouse)Not determined53569446269694594Mouse
11049561Lmr24e_mleishmaniasis resistance 24e (mouse)53569446269694594Mouse
11049559Lmr24c_mleishmaniasis resistance 24c (mouse)53569446269694594Mouse
11049558Lmr24b_mleishmaniasis resistance 24b (mouse)53569446269694594Mouse
1301223Hdlq7_mHDL QTL 7 (mouse)Not determined53585456869854714Mouse
13464252Ahl10_mage related hearing loss, early onset 10 (mouse)53585456869854714Mouse
4141647Hrvhf1_mheart rate variability, high frequency 1 (mouse)Not determined3643342370433423Mouse
1301170Lith13_mlithogenic gene 13 (mouse)Not determined53649448670494598Mouse


Expression


Sequence


RefSeq Acc Id: ENSMUST00000071949   ⟹   ENSMUSP00000071840
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl536,904,722 - 36,905,994 (-)Ensembl
GRCm38.p6 Ensembl536,747,378 - 36,748,650 (-)Ensembl
RefSeq Acc Id: NM_133724   ⟹   NP_598485
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39536,904,718 - 36,906,023 (-)NCBI
GRCm38536,747,374 - 36,748,679 (-)ENTREZGENE
MGSCv37537,138,613 - 37,139,918 (-)RGD
Celera534,198,608 - 34,199,913 (-)RGD
cM Map5 ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_598485 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH19169 (Get FASTA)   NCBI Sequence Viewer  
  AAO65401 (Get FASTA)   NCBI Sequence Viewer  
  EDL37511 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSMUSP00000071840
  ENSMUSP00000071840.4
GenBank Protein Q8VED2 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_598485   ⟸   NM_133724
- UniProtKB: Q8VED2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSMUSP00000071840   ⟸   ENSMUST00000071949

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8VED2-F1-model_v2 AlphaFold Q8VED2 1-215 view protein structure

Promoters
RGD ID:6886548
Promoter ID:EPDNEW_M6725
Type:multiple initiation site
Name:Bloc1s4_1
Description:Mus musculus biogenesis of lysosomal organelles complex-1, subunit4, cappuccino , 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
GRCm38536,748,667 - 36,748,727EPDNEW
RGD ID:6837275
Promoter ID:MM_KWN:42061
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   3T3L1_Day4,   3T3L1_Day6,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:NM_133724
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36537,139,631 - 37,140,131 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1929230 AgrOrtholog
Ensembl Genes ENSMUSG00000060708 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000071949 ENTREZGENE
  ENSMUST00000071949.5 UniProtKB/Swiss-Prot
InterPro Cappuccino UniProtKB/Swiss-Prot
KEGG Report mmu:117197 UniProtKB/Swiss-Prot
MGD MGI:1929230 ENTREZGENE
NCBI Gene 117197 ENTREZGENE
PANTHER BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1 SUBUNIT 4 UniProtKB/Swiss-Prot
  PTHR16230 UniProtKB/Swiss-Prot
PhenoGen Bloc1s4 PhenoGen
UniProt BL1S4_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-12-03 Bloc1s4  biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino    biogenesis of organelles complex-1, subunit 4, cappuccino  Symbol and/or name change 5135510 APPROVED
2012-08-21 Bloc1s4  biogenesis of organelles complex-1, subunit 4, cappuccino  Cno  cappuccino  Symbol and/or name change 5135510 APPROVED