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Q8TDH9

- BL1S5_HUMAN

UniProt

Q8TDH9 - BL1S5_HUMAN

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Protein
Biogenesis of lysosome-related organelles complex 1 subunit 5
Gene
BLOC1S5, MUTED
Organism
Homo sapiens (Human)
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.1 Publication

GO - Molecular functioni

  1. protein binding Source: UniProtKB

GO - Biological processi

  1. anterograde axon cargo transport Source: UniProtKB
  2. anterograde synaptic vesicle transport Source: UniProtKB
  3. endosome to melanosome transport Source: UniProtKB
  4. melanosome organization Source: UniProtKB
  5. melanosome transport Source: UniProtKB
  6. neuron projection development Source: UniProtKB
  7. positive regulation of pigment cell differentiation Source: UniProtKB
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:MUTED
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:18561. BLOC1S5.

Subcellular locationi

GO - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134921692.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 187186Biogenesis of lysosome-related organelles complex 1 subunit 5
PRO_0000096651Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ8TDH9.
PaxDbiQ8TDH9.
PRIDEiQ8TDH9.

PTM databases

PhosphoSiteiQ8TDH9.

Expressioni

Gene expression databases

ArrayExpressiQ8TDH9.
BgeeiQ8TDH9.
GenevestigatoriQ8TDH9.

Organism-specific databases

HPAiCAB025613.

Interactioni

Subunit structurei

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 BLOC1S6.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BLOC1S2Q6QNY12EBI-465861,EBI-465872
BLOC1S6Q9UL452EBI-465861,EBI-465781
DTNBP1Q96EV83EBI-465861,EBI-465804

Protein-protein interaction databases

BioGridi121986. 9 interactions.
IntActiQ8TDH9. 6 interactions.
STRINGi9606.ENSP00000380598.

Structurei

3D structure databases

ProteinModelPortaliQ8TDH9.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili154 – 18633 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Belongs to the BLOC1S5 family.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG43601.
HOGENOMiHOG000290689.
HOVERGENiHBG045594.
OMAiEQYSEME.
OrthoDBiEOG7RZ5RX.
PhylomeDBiQ8TDH9.
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 (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8TDH9-1) [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 GCEAAPGGGS KKRDSLGTAG SAHLIIKDLG EIHSRLLDHR    50
PVIQGETRYF VKEFEEKRGL REMRVLENLK NMIHETNEHT LPKCRDTMRD 100
SLSQVLQRLQ AANDSVCRLQ QREQERKKIH SDHLVASEKQ HMLQWDNFMK 150
EQPNKRAEVD EEHRKAMERL KEQYAEMEKD LAKFSTF 187
Length:187
Mass (Da):21,609
Last modified:June 1, 2002 - v1
Checksum:i790D4DE8E97D83D1
GO
Isoform 2 (identifier: Q8TDH9-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:110
Mass (Da):12,305
Checksum:i3B1A7044492F2A1E
GO
Isoform 3 (identifier: Q8TDH9-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: MSGGGTETPVGCEAAPGGGSKKRDSLGTAGSAHLIIKDLGEIHSRLLDHRPVIQGETRYFVKEFE → M

Note: No experimental confirmation available.

Show »
Length:123
Mass (Da):14,893
Checksum:iF6D7D10D6C28EEF7
GO

Sequence cautioni

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.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6565MSGGG…VKEFE → M in isoform 3.
VSP_045013Add
BLAST
Alternative sequencei109 – 1102LQ → YS in isoform 2.
VSP_015088
Alternative sequencei111 – 18777Missing in isoform 2.
VSP_015089Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS4506.1. [Q8TDH9-1]
CCDS56395.1. [Q8TDH9-3]
RefSeqiNP_001186251.1. NM_001199322.1. [Q8TDH9-3]
NP_958437.1. NM_201280.2. [Q8TDH9-1]
UniGeneiHs.719272.

Genome annotation databases

EnsembliENST00000397457; ENSP00000380598; ENSG00000188428. [Q8TDH9-1]
ENST00000543936; ENSP00000445215; ENSG00000188428. [Q8TDH9-3]
GeneIDi63915.
KEGGihsa:63915.
UCSCiuc003mxy.3. human. [Q8TDH9-1]
uc010joc.3. human.
uc021ylf.1. human. [Q8TDH9-2]

Polymorphism databases

DMDMi34582369.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS4506.1. [Q8TDH9-1 ]
CCDS56395.1. [Q8TDH9-3 ]
RefSeqi NP_001186251.1. NM_001199322.1. [Q8TDH9-3 ]
NP_958437.1. NM_201280.2. [Q8TDH9-1 ]
UniGenei Hs.719272.

3D structure databases

ProteinModelPortali Q8TDH9.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121986. 9 interactions.
IntActi Q8TDH9. 6 interactions.
STRINGi 9606.ENSP00000380598.

PTM databases

PhosphoSitei Q8TDH9.

Polymorphism databases

DMDMi 34582369.

Proteomic databases

MaxQBi Q8TDH9.
PaxDbi Q8TDH9.
PRIDEi Q8TDH9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000397457 ; ENSP00000380598 ; ENSG00000188428 . [Q8TDH9-1 ]
ENST00000543936 ; ENSP00000445215 ; ENSG00000188428 . [Q8TDH9-3 ]
GeneIDi 63915.
KEGGi hsa:63915.
UCSCi uc003mxy.3. human. [Q8TDH9-1 ]
uc010joc.3. human.
uc021ylf.1. human. [Q8TDH9-2 ]

Organism-specific databases

CTDi 63915.
GeneCardsi GC06M008014.
HGNCi HGNC:18561. BLOC1S5.
HPAi CAB025613.
MIMi 607289. gene.
neXtProti NX_Q8TDH9.
PharmGKBi PA134921692.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG43601.
HOGENOMi HOG000290689.
HOVERGENi HBG045594.
OMAi EQYSEME.
OrthoDBi EOG7RZ5RX.
PhylomeDBi Q8TDH9.
TreeFami TF332943.

Miscellaneous databases

GeneWikii MUTED.
GenomeRNAii 63915.
NextBioi 65632.
PROi Q8TDH9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8TDH9.
Bgeei Q8TDH9.
Genevestigatori Q8TDH9.

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).
  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.
    , 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. 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.
    , 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. 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.

Entry informationi

Entry nameiBL1S5_HUMAN
AccessioniPrimary (citable) accession number: Q8TDH9
Secondary accession number(s): B4DVM2
, Q0VDJ6, Q0VDJ7, Q5THS1, Q68D56, Q8N5F9, Q9NU16
Entry historyi
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 statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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