Kxd1 (NM_029366): 8qB3.3. chr8:70,513,396-70,523,180 9,785 bp (Mouse Dec. 2011 Assembly). 5 exons.
Genome Browser and Gene Sorter in UCSC Gene.
Gene ID: 75620 in NCBI Entrez Gene.
MGI:1922870 in MGI.
NM_029366, 1,236bp, view ORF and the alignment to genomic.
Tissue specificity: widely expressed in multiple tissues (Yang, et al).
kxDL motif-containing protein 1 (Kxd1, C19orf50) (NP_083642): 177aa, UniProt: Q80XH1.
View Kxd1 homologous genes and multiple sequence alignment in NCBI Homologene.
(1) Domains predicted by SMART:
a) low complexity: 115 - 124.
(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 TLVD.
106 to 109 SFLE.
136 to 139 TSPD.
168 to 171 TDDE.
174 to 177 THEE.
c) N-glycosylation site:
50 to 53 NLSS.
d) Protein kinase C phosphorylation site:
53 to 55 SVR.
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
e) 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=19,977Da, pI=4.81.
(1) Process: pigmentation, vesicle-mediated transport.
(2) Protein interaction in BLOC-1.
Cytoplasmic.
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.
3 targeted alleles are described in MGI.
Targeted region for the deletion of exon 5 as designed (Yang, et al).
Loss of Kxd1 destablizes BLOS1, but not other tested BLOC-1 subunits (Yang, et al).
Mice homozygous for a knock-out allele exhibit malformed melanosomes in the choroid and retinal pigment epithelium and decreased platelet dense granule number, mimicking a mild form of Hermansky-Pudlak syndrome (Yang, et al).
EDIT HISTORY:
Created by Wei Li, 06/13/2013