ID H0WY90_OTOGA Unreviewed; 1007 AA.
AC H0WY90;
DT 22-FEB-2012, integrated into UniProtKB/TrEMBL.
DT 22-FEB-2012, sequence version 1.
DT 27-MAR-2024, entry version 42.
DE RecName: Full=Hermansky-Pudlak syndrome 3 protein homolog {ECO:0000256|PIRNR:PIRNR037473};
GN Name=HPS3 {ECO:0000313|Ensembl:ENSOGAP00000007462.2};
OS Otolemur garnettii (Small-eared galago) (Garnett's greater bushbaby).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Strepsirrhini; Lorisiformes;
OC Galagidae; Otolemur.
OX NCBI_TaxID=30611 {ECO:0000313|Ensembl:ENSOGAP00000007462.2, ECO:0000313|Proteomes:UP000005225};
RN [1] {ECO:0000313|Proteomes:UP000005225}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RG The Broad Institute Genome Sequencing Platform;
RA Di Palma F., Johnson J., Lander E.S., Lindblad-Toh K., Jaffe D.B.,
RA Gnerre S., MacCallum I., Przybylski D., Ribeiro F.J., Burton J.N.,
RA Walker B.J., Sharpe T., Hall G.;
RT "Version 3 of the genome sequence of Otolemur garnettii (Bushbaby).";
RL Submitted (MAR-2011) to the EMBL/GenBank/DDBJ databases.
RN [2] {ECO:0000313|Ensembl:ENSOGAP00000007462.2}
RP IDENTIFICATION.
RG Ensembl;
RL Submitted (NOV-2023) to UniProtKB.
CC -!- FUNCTION: Involved in early stages of melanosome biogenesis and
CC maturation. {ECO:0000256|PIRNR:PIRNR037473}.
CC -!- SUBUNIT: Component of the biogenesis of lysosome-related organelles
CC complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6.
CC {ECO:0000256|PIRNR:PIRNR037473}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000256|PIRNR:PIRNR037473}.
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DR EMBL; AAQR03063346; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AAQR03063347; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AAQR03063348; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AAQR03063349; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AAQR03063350; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AAQR03063351; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR AlphaFoldDB; H0WY90; -.
DR STRING; 30611.ENSOGAP00000007462; -.
DR Ensembl; ENSOGAT00000008337.2; ENSOGAP00000007462.2; ENSOGAG00000008334.2.
DR eggNOG; ENOG502QRQB; Eukaryota.
DR GeneTree; ENSGT00390000015458; -.
DR HOGENOM; CLU_011989_0_0_1; -.
DR InParanoid; H0WY90; -.
DR OMA; LCIQNTE; -.
DR TreeFam; TF324432; -.
DR Proteomes; UP000005225; Unassembled WGS sequence.
DR GO; GO:0031084; C:BLOC-2 complex; IEA:Ensembl.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0006996; P:organelle organization; IEA:Ensembl.
DR GO; GO:0043473; P:pigmentation; IEA:Ensembl.
DR InterPro; IPR017216; HPS3.
DR InterPro; IPR029438; HPS3_C.
DR InterPro; IPR029437; HPS3_N.
DR PANTHER; PTHR28633; HERMANSKY-PUDLAK SYNDROME 3 PROTEIN; 1.
DR PANTHER; PTHR28633:SF1; HERMANSKY-PUDLAK SYNDROME 3 PROTEIN; 1.
DR Pfam; PF14763; HPS3_C; 1.
DR Pfam; PF14761; HPS3_N; 1.
DR PIRSF; PIRSF037473; BLOC-2_complex_Hps3; 1.
PE 4: Predicted;
KW Cytoplasm {ECO:0000256|PIRNR:PIRNR037473};
KW Reference proteome {ECO:0000313|Proteomes:UP000005225}.
FT DOMAIN 3..478
FT /note="BLOC-2 complex member HPS3 N-terminal"
FT /evidence="ECO:0000259|Pfam:PF14761"
FT DOMAIN 497..1004
FT /note="BLOC-2 complex member HPS3 C-terminal"
FT /evidence="ECO:0000259|Pfam:PF14763"
SQ SEQUENCE 1007 AA; 113587 MW; 216E0485E0E6DB76 CRC64;
MVQLYNLHPF GSQQVVPCKL EPERFCGGGR DALFVAAGCK VEAFAVAGQE LCQPRCSFST
LGRVLRMAYS EAGDYLVAIE EKNKATFLRA YVNWRSKRTE NARVCIRMVG HDVEASFRET
FRDQMSIVEM PLSEAPLCIS CCPVKGDLLV GCTNKLVLFS LKRHTIDEEF SLLDFERSLI
IHIDNIMPVE ISYCVGHVGV MSDLEVLILK LESDAKIAER VNHHSRKASN PVKQTEKGIN
NEISQLESDD FVICPKPMEL LGKKSEQSGL SITLESTGLA DEKLQYVHVQ HLLYRRFAPD
ISAYVLPDDI KLHSLQLLPI YQTGTFDSKL EEKVPRKEPR NLAFQIPRII WLSILTVVNR
LGSCRWRFLS GGAAVLITTD DNQALTVGSL GSFTVQKQPG VVERGRGYMD TTLKACPPIS
MDVCALRIQL FIGLKAICHF KNHVILLTKA EPEAIPERRD SPRRLLSRKD TSGKSKIPPV
AEAGWNLYIV NTVSPVQLYK EMVDYSNTYK TAKTQSCIHL LSEAHLLVRA ALMDASQLEP
GEKAELLEAF RESCAHLGDC YNFLPSRLDT QHSHLTLPYY KMSGLSLAEV LARVDWTVED
MSQKYERGLI FYINHSLYEN LDEELTKELA AKVVQMFYVA EPKQLPHVLC SPSVKNINPS
TAMSYLRKLD VSGLSSILLT LTKAAVALKM GDLDVHRNEM KSHSEMKLVC GFILEPRLLI
QQRKGQVIPT ELANHLKETQ PALLVAAVLG LQKNNKIGIE EADSFFKVLC VKDEDTIPQL
LVDFWEAQLV ACLPDVVLQE LFFKLISQYI WRLSKRQPPD TTPLRTSEDL INACGHYGLI
YPWVHVLMSS DSLADEYYTG DLSKLQSLIC GPSFDIASII PFLEPLSEDT VAGLSVHVLC
RTRLKEHEQC LDVLLERCPE AVIPYANHEL KEENRTLWWK KLLPELCQRI KHGGEKYRLY
LSLLKETLSV VAVELELKDF LNVLPEDGTA AFFLPYLLYC SRKKSLT
//