(1)Transcript Variant 1: NM_001171948, 1,592bp, view ORF and the alignment to genomic. This variant (1) represents the longest transcript.
(2)Transcript Variant 2: NM_024069, 1,461bp, view ORF and the alignment to genomic. This variant (2) differs in the 5' UTR compared to variant 1.
(3)Transcript Variant 3: NM_001171949, 1,496bp, view ORF and the alignment to genomic. This variant (3) differs in the 5' UTR compared to variant 1.
Variants 1, 2, and 3 encode the same protein.
Tissue specificity: widely expressed in multiple tissues in mouse (Yang, et al).
(1) Domains predicted by SMART:
a) low complexity: 109 - 128.
(2) Transmembrane domains predicted by SOSUI: None.
(1) Predicted results by ProScan:
a) N-myristoylation site:
132 to 137 GSCDTS.
b) Casein kinase II phosphorylation site:
69 to 72 TLVE.
106 to 109 SFLE.
136 to 139 TSPD.
166 to 169 SQTD.
168 to 171 TDDE.
c) N-glycosylation site:
50 to 53 NLSS.
d) Protein kinase C phosphorylation site:
53 to 55 SAR.
60 to 62 SER.
86 to 88 TLK.
(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: none
d) VAC possible vacuolar targeting motif: none
6e) Actinin-type actin-binding motif: type 1: none; type 2: none
f) Prenylation motif: none
g) DNA or RNA binding motif: none
h) Tyrosines in the tail: none
i) Dileucine motif in the tail: none.
j) Coils: 65 to 93 residues.
No solved structure.
Computed theoretical MW=19,668Da, pI=4.76.
(1) Process: pigmentation, vesicle-mediated transport.
(2) Protein interaction in BLOC-1.
Interacts with BLOS1 and several other BLOC-1 subunits (Yang, et al). A component of yeast BLOC-1, which is both a Vps21 effector and an adapter for its GAP Msb3. BLOC-1 and Msb3 interacted in vivo(Peter, et al).
Involved in the development of lysosome-related organelles, such as melanosomes and platelet-dense granules.