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Q8TDH9 (BL1S5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·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:MUTED
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length187 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.8

Subunit structure

Interacts with BLOC1S4, DTNBP1/BLOC1S7 and PI4K2A 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. Octamer composed of one copy each 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 BLOC1S6. Ref.6 Ref.7 Ref.8 Ref.11

Sequence similarities

Belongs to the BLOC1S5 family.

Sequence caution

The sequence AAH32438.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence CAI20106.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI21645.1 differs from that shown. Reason: Erroneous gene model prediction.

Binary interactions

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8TDH9-1)

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: Q8TDH9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     109-110: LQ → YS
     111-187: Missing.
Note: Gene prediction based on EST data. No experimental confirmation available.
Isoform 3 (identifier: Q8TDH9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: MSGGGTETPVGCEAAPGGGSKKRDSLGTAGSAHLIIKDLGEIHSRLLDHRPVIQGETRYFVKEFE → M
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.9
Chain2 – 187186Biogenesis of lysosome-related organelles complex 1 subunit 5
PRO_0000096651

Regions

Coiled coil154 – 18633 Potential

Amino acid modifications

Modified residue21N-acetylserine Ref.9

Natural variations

Alternative sequence1 – 6565MSGGG…VKEFE → M in isoform 3.
VSP_045013
Alternative sequence109 – 1102LQ → YS in isoform 2.
VSP_015088
Alternative sequence111 – 18777Missing in isoform 2.
VSP_015089

Sequences

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

Last modified June 1, 2002. Version 1.
Checksum: 790D4DE8E97D83D1

FASTA18721,609
        10         20         30         40         50         60 
MSGGGTETPV GCEAAPGGGS KKRDSLGTAG SAHLIIKDLG EIHSRLLDHR PVIQGETRYF 

        70         80         90        100        110        120 
VKEFEEKRGL REMRVLENLK NMIHETNEHT LPKCRDTMRD SLSQVLQRLQ AANDSVCRLQ 

       130        140        150        160        170        180 
QREQERKKIH SDHLVASEKQ HMLQWDNFMK EQPNKRAEVD EEHRKAMERL KEQYAEMEKD 


LAKFSTF 

« Hide

Isoform 2 [UniParc].

Checksum: 3B1A7044492F2A1E
Show »

FASTA11012,305
Isoform 3 [UniParc].

Checksum: F6D7D10D6C28EEF7
Show »

FASTA12314,893

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).
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Spleen.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Retina.
[4]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] (ISOFORMS 1 AND 3).
Tissue: Lymph.
[6]"Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles."
Moriyama K., Bonifacino J.S.
Traffic 3:666-677(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH BLOC1S6.
[7]"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: INTERACTION WITH BLOC1S6.
[8]"BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles."
Setty S.R., Tenza D., Truschel S.T., Chou E., Sviderskaya E.V., Theos A.C., Lamoreux M.L., Di Pietro S.M., Starcevic M., Bennett D.C., Dell'Angelica E.C., Raposo G., Marks M.S.
Mol. Biol. Cell 18:768-780(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE BLOC-1 COMPLEX, FUNCTION.
[9]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
[10]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1)."
Lee H.H., Nemecek D., Schindler C., Smith W.J., Ghirlando R., Steven A.C., Bonifacino J.S., Hurley J.H.
J. Biol. Chem. 287:5882-5890(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE BLOC-1 COMPLEX, COMPOSITION OF THE BLOC-1 COMPLEX.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF426434 mRNA. Translation: AAL99385.1.
AK301142 mRNA. Translation: BAG62734.1.
CR749569 mRNA. Translation: CAH18364.1.
AL096800, AL023694 Genomic DNA. Translation: CAI20106.1. Sequence problems.
AL023694, AL096800 Genomic DNA. Translation: CAI21645.1. Sequence problems.
BC032438 mRNA. Translation: AAH32438.1. Different initiation.
BC119644 mRNA. Translation: AAI19645.1.
BC119645 mRNA. Translation: AAI19646.1.
CCDSCCDS4506.1. [Q8TDH9-1]
CCDS56395.1. [Q8TDH9-3]
RefSeqNP_001186251.1. NM_001199322.1. [Q8TDH9-3]
NP_958437.1. NM_201280.2. [Q8TDH9-1]
UniGeneHs.719272.

3D structure databases

ProteinModelPortalQ8TDH9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121986. 9 interactions.
IntActQ8TDH9. 6 interactions.
STRING9606.ENSP00000380598.

PTM databases

PhosphoSiteQ8TDH9.

Polymorphism databases

DMDM34582369.

Proteomic databases

MaxQBQ8TDH9.
PaxDbQ8TDH9.
PRIDEQ8TDH9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000397457; ENSP00000380598; ENSG00000188428. [Q8TDH9-1]
ENST00000543936; ENSP00000445215; ENSG00000188428. [Q8TDH9-3]
GeneID63915.
KEGGhsa:63915.
UCSCuc003mxy.3. human. [Q8TDH9-1]
uc010joc.3. human.
uc021ylf.1. human. [Q8TDH9-2]

Organism-specific databases

CTD63915.
GeneCardsGC06M008014.
HGNCHGNC:18561. BLOC1S5.
HPACAB025613.
MIM607289. gene.
neXtProtNX_Q8TDH9.
PharmGKBPA134921692.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG43601.
HOGENOMHOG000290689.
HOVERGENHBG045594.
OMAEQYSEME.
OrthoDBEOG7RZ5RX.
PhylomeDBQ8TDH9.
TreeFamTF332943.

Gene expression databases

ArrayExpressQ8TDH9.
BgeeQ8TDH9.
GenevestigatorQ8TDH9.

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

GeneWikiMUTED.
GenomeRNAi63915.
NextBio65632.
PROQ8TDH9.
SOURCESearch...

Entry information

Entry nameBL1S5_HUMAN
AccessionPrimary (citable) accession number: Q8TDH9
Secondary accession number(s): B4DVM2 expand/collapse secondary AC list , Q0VDJ6, Q0VDJ7, Q5THS1, Q68D56, Q8N5F9, Q9NU16
Entry history
Integrated into UniProtKB/Swiss-Prot: September 9, 2003
Last sequence update: June 1, 2002
Last modified: July 9, 2014
This is version 98 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM