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Q8R015

- BL1S5_MOUSE

UniProt

Q8R015 - BL1S5_MOUSE

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Protein
Biogenesis of lysosome-related organelles complex 1 subunit 5
Gene
Bloc1s5, Mu, Muted
Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking.5 Publications

GO - Molecular functioni

  1. protein binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. anterograde axon cargo transport Source: UniProtKB
  2. anterograde synaptic vesicle transport Source: UniProtKB
  3. developmental pigmentation Source: MGI
  4. endosome to melanosome transport Source: UniProtKB
  5. melanosome transport Source: UniProtKB
  6. neuron projection development Source: UniProtKB
  7. otolith morphogenesis Source: MGI
  8. positive regulation of pigment cell differentiation Source: UniProtKB
  9. vesicle-mediated transport Source: MGI
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Biogenesis of lysosome-related organelles complex 1 subunit 5
Short name:
BLOC-1 subunit 5
Alternative name(s):
Protein Muted homolog
Gene namesi
Name:Bloc1s5
Synonyms:Mu, Muted
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 13

Organism-specific databases

MGIiMGI:2178598. Bloc1s5.

Subcellular locationi

GO - Cellular componenti

  1. BLOC-1 complex Source: UniProtKB
  2. transport vesicle Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Defects in Muted are the cause of the Muted (mu) mutant, which is characterized by light eyes at birth, hypopigmentation of the coat, platelet storage pool deficiency and lysosomal hyposecretion.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed By similarity
Chaini2 – 185184Biogenesis of lysosome-related organelles complex 1 subunit 5
PRO_0000096653Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserine By similarity

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiQ8R015.
PRIDEiQ8R015.

PTM databases

PhosphoSiteiQ8R015.

Expressioni

Tissue specificityi

Detected in heart, brain, spleen, lung, kidney and testis.1 Publication

Gene expression databases

BgeeiQ8R015.
CleanExiMM_MUTED.
GenevestigatoriQ8R015.

Interactioni

Subunit structurei

Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8 By similarity. Component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos. Interacts with BLOC1S4, BLOC1S6, DTNBP1/BLOC1S7 and PI4K2A.4 Publications

Protein-protein interaction databases

BioGridi201605. 2 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ8R015.

Family & Domainsi

Sequence similaritiesi

Belongs to the BLOC1S5 family.

Phylogenomic databases

eggNOGiNOG43601.
GeneTreeiENSGT00390000016974.
HOGENOMiHOG000290689.
HOVERGENiHBG045594.
InParanoidiQ8R015.
OMAiEQYSEME.
OrthoDBiEOG7RZ5RX.
PhylomeDBiQ8R015.
TreeFamiTF332943.

Family and domain databases

InterProiIPR017243. Bloc1s5.
[Graphical view]
PANTHERiPTHR31784. PTHR31784. 1 hit.
PfamiPF14942. Muted. 1 hit.
[Graphical view]
PIRSFiPIRSF037610. BLOC-1_complex_muted_subunit. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8R015-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MSGGGTETPV ACDAAQGGKK RDSLGTPGAA HLIIKDLGEI HSRLLDHRPV    50
TQGEIRYFVK EFEEKRGLRE LRVLKNLENT IQETNECLLP KCRETMECGL 100
GETLQRLQAA NDSICRLQQR EQERKKVIND YLTASEKRRL VQWEEFVSGQ 150
PQRRAEVDEE HRRAVERLRE QYAAMEKDLA KFSTF 185
Length:185
Mass (Da):21,283
Last modified:June 1, 2002 - v1
Checksum:i0351D1A4AA7DC5CD
GO
Isoform 2 (identifier: Q8R015-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     127-185: VINDYLTASE...EKDLAKFSTF → GLLDPGLVDL...NYSCLLHSRI

Note: No experimental confirmation available.

Show »
Length:169
Mass (Da):18,770
Checksum:iB1635F8B4AB96054
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei127 – 18559VINDY…KFSTF → GLLDPGLVDLGTLLTMSCRD PPVSDEPSCNAARNYSCLLH SRI in isoform 2.
VSP_008196Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF426433 mRNA. Translation: AAL99384.1.
AK039050 mRNA. Translation: BAC30220.1.
AK075808 mRNA. Translation: BAC35976.1.
AK147762 mRNA. Translation: BAE28121.1.
AK170614 mRNA. Translation: BAE41913.1.
BC023184 mRNA. Translation: AAH23184.1.
BC024720 mRNA. Translation: AAH24720.1.
CCDSiCCDS26464.1. [Q8R015-1]
RefSeqiNP_620702.1. NM_139063.1. [Q8R015-1]
UniGeneiMm.261554.

Genome annotation databases

EnsembliENSMUST00000035899; ENSMUSP00000036614; ENSMUSG00000038982. [Q8R015-1]
GeneIDi17828.
KEGGimmu:17828.
UCSCiuc007qdu.1. mouse. [Q8R015-1]
uc007qdv.1. mouse. [Q8R015-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF426433 mRNA. Translation: AAL99384.1 .
AK039050 mRNA. Translation: BAC30220.1 .
AK075808 mRNA. Translation: BAC35976.1 .
AK147762 mRNA. Translation: BAE28121.1 .
AK170614 mRNA. Translation: BAE41913.1 .
BC023184 mRNA. Translation: AAH23184.1 .
BC024720 mRNA. Translation: AAH24720.1 .
CCDSi CCDS26464.1. [Q8R015-1 ]
RefSeqi NP_620702.1. NM_139063.1. [Q8R015-1 ]
UniGenei Mm.261554.

3D structure databases

ProteinModelPortali Q8R015.
ModBasei Search...

Protein-protein interaction databases

BioGridi 201605. 2 interactions.

PTM databases

PhosphoSitei Q8R015.

Proteomic databases

PaxDbi Q8R015.
PRIDEi Q8R015.

Protocols and materials databases

DNASUi 17828.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000035899 ; ENSMUSP00000036614 ; ENSMUSG00000038982 . [Q8R015-1 ]
GeneIDi 17828.
KEGGi mmu:17828.
UCSCi uc007qdu.1. mouse. [Q8R015-1 ]
uc007qdv.1. mouse. [Q8R015-2 ]

Organism-specific databases

CTDi 63915.
MGIi MGI:2178598. Bloc1s5.

Phylogenomic databases

eggNOGi NOG43601.
GeneTreei ENSGT00390000016974.
HOGENOMi HOG000290689.
HOVERGENi HBG045594.
InParanoidi Q8R015.
OMAi EQYSEME.
OrthoDBi EOG7RZ5RX.
PhylomeDBi Q8R015.
TreeFami TF332943.

Miscellaneous databases

NextBioi 292525.
PROi Q8R015.
SOURCEi Search...

Gene expression databases

Bgeei Q8R015.
CleanExi MM_MUTED.
Genevestigatori Q8R015.

Family and domain databases

InterProi IPR017243. Bloc1s5.
[Graphical view ]
PANTHERi PTHR31784. PTHR31784. 1 hit.
Pfami PF14942. Muted. 1 hit.
[Graphical view ]
PIRSFi PIRSF037610. BLOC-1_complex_muted_subunit. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking."
    Zhang Q., Li W., Novak E.K., Karim A., Mishra V.S., Kingsmore S.F., Roe B.A., Suzuki T., Swank R.T.
    Hum. Mol. Genet. 11:697-706(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, DISEASE, TISSUE SPECIFICITY.
    Strain: C57BL/6J.
  2. "The transcriptional landscape of the mammalian genome."
    Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
    , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
    Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Strain: C57BL/6J and NOD.
    Tissue: Hypothalamus and Pancreas.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Eye.
  4. "BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules."
    Falcon-Perez J.M., Starcevic M., Gautam R., Dell'Angelica E.C.
    J. Biol. Chem. 277:28191-28199(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH BLOC1S6, IDENTIFICATION IN THE BLOC-1 COMPLEX.
  5. "Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)."
    Ciciotte S.L., Gwynn B., Moriyama K., Huizing M., Gahl W.A., Bonifacino J.S., Peters L.L.
    Blood 101:4402-4407(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE BLOC-1 COMPLEX, INTERACTION WITH BLOC1S4 AND BLOC1S6.
  6. "Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)."
    Li W., Zhang Q., Oiso N., Novak E.K., Gautam R., O'Brien E.P., Tinsley C.L., Blake D.J., Spritz R.A., Copeland N.G., Jenkins N.A., Amato D., Roe B.A., Starcevic M., Dell'Angelica E.C., Elliott R.W., Mishra V., Kingsmore S.F., Paylor R.E., Swank R.T.
    Nat. Genet. 35:84-89(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DTNBP1.
  7. Cited for: FUNCTION.
  8. "The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth."
    Ghiani C.A., Starcevic M., Rodriguez-Fernandez I.A., Nazarian R., Cheli V.T., Chan L.N., Malvar J.S., de Vellis J., Sabatti C., Dell'Angelica E.C.
    Mol. Psychiatry 15:204-215(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  9. "The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse."
    Larimore J., Tornieri K., Ryder P.V., Gokhale A., Zlatic S.A., Craige B., Lee J.D., Talbot K., Pare J.F., Smith Y., Faundez V.
    Mol. Biol. Cell 22:4854-4867(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, ASSOCIATION WITH THE AP-3 COMPLEX, INTERACTION WITH PI4K2A AND BLOC1S6.

Entry informationi

Entry nameiBL1S5_MOUSE
AccessioniPrimary (citable) accession number: Q8R015
Secondary accession number(s): Q3TCP2, Q8CAC9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 9, 2003
Last sequence update: June 1, 2002
Last modified: July 9, 2014
This is version 84 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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