12q13.2. View the map and FISH BAC clones (data from UCSC genome browser).
BLOC1S1/NM_001487: 4 exons, 3,665 bp, chr12:54,396,087-54,399,751.
The figure below shows the structure of the BLOC1S1 gene (data from UCSC genome browser).
Search the 5'UTR and 1kb upstream regions (seq1=human BLOC1S1, seq2=mouse Bloc1s1) by CONREAL with 80% Position Weight Matrices (PWMs) threshold (view results here).
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_056555 (125aa)||XP_213833 (125aa)||13120 (125aa)|
|Protein||NP_725401 (143aa)||XP_321175 (148aa)||NP_499262 (129aa)|
View multiple sequence alignment (PDF file) by ClustalW and GeneDoc. Note that the human GCN5L1 protein displays weak homology (27%) to yeast GCN5, which is also called general control of amino-acid synthesis 5-like 1 (Driessen, et al ).
(1) Domains predicted by SMART:
a) low complexity: 12 - 26
b) coiled coil: 1-32
c) Pfam:GCN5L1: 5-125
(2) Transmembrane domains predicted by SOSUI: none.
(3) Pfam domain: Pfam:PF06320, GCN5L1.
(4) CDD domain: KOG3390.
(5) Graphic view of InterPro domain structure.
(1) Predicted results by ScanProsite:
a) N-myristoylation site : [occurs frequently]
45 - 50: GVaqAY, 75 - 80: GQwiGM, 79 - 84: GMveNF, 118 - 123: GQlqSA.
b) Casein kinase II phosphorylation site : [occurs frequently]
110 - 113: TalE.
(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: XXRR-like motif in the N-terminus: LSRL
d) VAC possible vacuolar targeting motif: none
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: none
i) Dileucine motif in the tail: none
(1) ModBase: none.
(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=14,311Da, pI=7.88.
(1) May play a role in intracellular vesicle trafficking.
(2) Protein interaction in BLOC-1.
BLOC-1 subunit 1 is a subunit of the biogenesis of lysosome-related organelles complex 1 (BLOC-1), which contains the products of seven other HPS genes, DTNBP1, MU, PLDN, CNO, BLOS2, BLOS3, SNAPAP (Ciciotte, et al; Falcon-Perez , et al; Li, et al; Moriyama, et al; Starcevic, et al). It interacts with pallidin, snapin, and BLOS2 within the complex ( Starcevic, et al) (view diagram of BLOC-1 complex here). In Arabidopsis, BLOS1 interacts with SNX1 to modulate the vacuole degradation of auxin effluxers PIN1/2 to regulate root development ( Cui, et al).
BLOS1 drosophila homolog CG30077 interaction information in CuraGen interaction database.
Involved in the development of lysosome-related organelles, such as melanosomes and platelet-dense granules (view diagram of BLOC-1 pathway here).