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Q8R015 (BL1S5_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Biogenesis of lysosome-related organelles complex 1 subunit 5

Short name=BLOC-1 subunit 5
Alternative name(s):
Protein Muted homolog
Gene names
Name:Bloc1s5
Synonyms:Mu, Muted
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length185 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1 Ref.4 Ref.7 Ref.8 Ref.9

Subunit structure

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. Ref.4 Ref.5 Ref.6 Ref.9

Tissue specificity

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

Involvement in disease

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. Ref.1

Sequence similarities

Belongs to the BLOC1S5 family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8R015-1)

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.
Isoform 2 (identifier: Q8R015-2)

The sequence of this isoform differs from the canonical sequence as follows:
     127-185: VINDYLTASE...EKDLAKFSTF → GLLDPGLVDL...NYSCLLHSRI
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed By similarity
Chain2 – 185184Biogenesis of lysosome-related organelles complex 1 subunit 5
PRO_0000096653

Amino acid modifications

Modified residue21N-acetylserine By similarity

Natural variations

Alternative sequence127 – 18559VINDY…KFSTF → GLLDPGLVDLGTLLTMSCRD PPVSDEPSCNAARNYSCLLH SRI in isoform 2.
VSP_008196

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2002. Version 1.
Checksum: 0351D1A4AA7DC5CD

FASTA18521,283
        10         20         30         40         50         60 
MSGGGTETPV ACDAAQGGKK RDSLGTPGAA HLIIKDLGEI HSRLLDHRPV TQGEIRYFVK 

        70         80         90        100        110        120 
EFEEKRGLRE LRVLKNLENT IQETNECLLP KCRETMECGL GETLQRLQAA NDSICRLQQR 

       130        140        150        160        170        180 
EQERKKVIND YLTASEKRRL VQWEEFVSGQ PQRRAEVDEE HRRAVERLRE QYAAMEKDLA 


KFSTF 

« Hide

Isoform 2 [UniParc].

Checksum: B1635F8B4AB96054
Show »

FASTA16918,770

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes."
Salazar G., Craige B., Styers M.L., Newell-Litwa K.A., Doucette M.M., Wainer B.H., Falcon-Perez J.M., Dell'Angelica E.C., Peden A.A., Werner E., Faundez V.
Mol. Biol. Cell 17:4014-4026(2006) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS26464.1. [Q8R015-1]
RefSeqNP_620702.1. NM_139063.1. [Q8R015-1]
UniGeneMm.261554.

3D structure databases

ProteinModelPortalQ8R015.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid201605. 2 interactions.

PTM databases

PhosphoSiteQ8R015.

Proteomic databases

PaxDbQ8R015.
PRIDEQ8R015.

Protocols and materials databases

DNASU17828.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000035899; ENSMUSP00000036614; ENSMUSG00000038982. [Q8R015-1]
GeneID17828.
KEGGmmu:17828.
UCSCuc007qdu.1. mouse. [Q8R015-1]
uc007qdv.1. mouse. [Q8R015-2]

Organism-specific databases

CTD63915.
MGIMGI:2178598. Bloc1s5.

Phylogenomic databases

eggNOGNOG43601.
GeneTreeENSGT00390000016974.
HOGENOMHOG000290689.
HOVERGENHBG045594.
InParanoidQ8R015.
OMAEQYSEME.
OrthoDBEOG7RZ5RX.
PhylomeDBQ8R015.
TreeFamTF332943.

Gene expression databases

BgeeQ8R015.
CleanExMM_MUTED.
GenevestigatorQ8R015.

Family and domain databases

InterProIPR017243. Bloc1s5.
[Graphical view]
PANTHERPTHR31784. PTHR31784. 1 hit.
PfamPF14942. Muted. 1 hit.
[Graphical view]
PIRSFPIRSF037610. BLOC-1_complex_muted_subunit. 1 hit.
ProtoNetSearch...

Other

NextBio292525.
PROQ8R015.
SOURCESearch...

Entry information

Entry nameBL1S5_MOUSE
AccessionPrimary (citable) accession number: Q8R015
Secondary accession number(s): Q3TCP2, Q8CAC9
Entry history
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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot