6p24.3. View the map and BAC clones of FISH (data from UCSC genome browser).
MUTED/NM_201280: 5 exons, 50,431bp, Chr6: 7,959,216-8,009,646.
The figure below shows the structure of the MU gene (data from UCSC genome browser).
Note that the longer transcript variant of TXDNC5/NM_022085 contains exons 1-4 of MUTED.
Search the 5'UTR and 1kb upstream regions (human and mouse) by CONREAL with 80% Position Weight Matrices (PWMs) threshold (view results here).
Tissue specificity: Widely Expressed.
BMR: Bone marrow; SPL: Spleen; TMS: Thymus; BRN: Brain; SPC: Spinal cord; HRT: Heart; MSL: Skeletal muscle; LVR; Liver; PNC: Pancreas; PST: Prostate; KDN: Kidney; LNG: Lung. (data from GeneCards )
|Protein||NP_620702 (185aa)||30229 (187aa)||20823 (196aa)||XP_225255 (187aa)||177063 (139aa)|
View multiple sequence alignment (PDF file) by ClustalW and GeneDoc.
(1) Domains predicted by SMART:
a) coiled coil: 154 - 186.
(2) Transmembrane domains predicted by SOSUI: None.
(1) Predicted results by ScanProsite:
a) Protein kinase C phosphorylation site : [occurs frequently]
20 - 22: SkK, 97 - 99: TmR, 137 - 139: SeK.
b) cAMP- and cGMP-dependent protein kinase phosphorylation site : [occurs frequently]
22 - 25: KRdS.
c) N-myristoylation site : [occurs frequently]
27 - 32: GTagSA.
d) Casein kinase II phosphorylation site : [occurs frequently]
97 - 100: TmrD.
e) N-glycosylation site : [occurs frequently]
113 - 116: NDSV.
(2) Predicted results of subprograms by PSORT II:
a) N-terminal signal peptide: none
b) KDEL ER retention motif in the C-terminus: none
c) ER Membrane Retention Signals: found KKXX-like motif in C-terminus, KFST
d) VAC possible vacuolar targeting motif: found TLPK at 90
e) Actinin-type actin-binding motif: type 1: none; type 2: none
f) Prenylation motif: none
g) memYQRL transport motif from cell surface to Golgi: none
h) Tyrosines in the tail: too long of a tail
i) Dileucine motif in the tail: None.
(1) ModBase No entry found.
(2) 3D models predicted by SPARKS (fold recognition) below. View the models by PDB2MGIF.
This protein does not exist in the current release of SWISS-2DPAGE.
Computed theoretical MW=21,609Da, pI=7.14 (NP_958437).
(1) Process: pigmentation, vesicle-mediated transport.
(2) Protein interaction in BLOC-1.
Interacts with pallidin, cno, dysbindin, and Blos2 (Ciciotte, et al; Li, et al (2004); Starcevic, et al). The muted protein is a subunit of the biogenesis of lysosome-related organelles complex 1 (BLOC-1), in which it interacts with the products of seven other HPS genes, sdy, pa, cno, rp, Snapap, Blos1, Blos2 (Ciciotte, et al; Falcon-Perez , et al; Li, et al (2003); Moriyama, et al; Starcevic, et al) (view diagram of BLOC-1 complex here).
Involved in the development of lysosome-related organelles, such as melanosomes and platelet-dense granules (view diagram of BLOC-1 pathway here).