MELPH_FELCA
ID MELPH_FELCA Reviewed; 569 AA.
AC M3WHG5; A0A2I2U8R1; A0SJ36; A0SJ37;
DT 07-APR-2021, integrated into UniProtKB/Swiss-Prot.
DT 10-OCT-2018, sequence version 3.
DT 03-AUG-2022, entry version 51.
DE RecName: Full=Melanophilin;
DE AltName: Full=Exophilin-3;
DE AltName: Full=Slp homolog lacking C2 domains a;
DE Short=SlaC2-a;
DE AltName: Full=Synaptotagmin-like protein 2a;
GN Name=MLPH;
OS Felis catus (Cat) (Felis silvestris catus).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Felis.
OX NCBI_TaxID=9685;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], POLYMORPHISM, AND VARIANTS 28-LEU--PRO-569
RP DELINS ARG-GLU-GLY-LYS-LYS-ARG-LYS-GLY-TRP-GLY-ASP; GLY-205; ALA-223;
RP SER-228; ARG-250; LEU-250; PHE-250 AND ALA-404.
RX PubMed=16860533; DOI=10.1016/j.ygeno.2006.06.006;
RA Ishida Y., David V.A., Eizirik E., Schaffer A.A., Neelam B.A., Roelke M.E.,
RA Hannah S.S., O'Brien S.J., Menotti-Raymond M.;
RT "A homozygous single-base deletion in MLPH causes the dilute coat color
RT phenotype in the domestic cat.";
RL Genomics 88:698-705(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Abyssinian;
RX PubMed=17975172; DOI=10.1101/gr.6380007;
RA Pontius J.U., Mullikin J.C., Smith D.R., Lindblad-Toh K., Gnerre S.,
RA Clamp M., Chang J., Stephens R., Neelam B., Volfovsky N., Schaffer A.A.,
RA Agarwala R., Narfstrom K., Murphy W.J., Giger U., Roca A.L., Antunes A.,
RA Menotti-Raymond M., Yuhki N., Pecon-Slattery J., Johnson W.E., Bourque G.,
RA Tesler G., O'Brien S.J.;
RT "Initial sequence and comparative analysis of the cat genome.";
RL Genome Res. 17:1675-1689(2007).
CC -!- FUNCTION: Rab effector protein involved in melanosome transport. Serves
CC as link between melanosome-bound RAB27A and the motor protein MYO5A.
CC {ECO:0000250|UniProtKB:Q91V27}.
CC -!- SUBUNIT: Binds RAB27A that has been activated by GTP-binding via its N-
CC terminus. Binds MYO5A via its C-terminal coiled coil domain.
CC {ECO:0000250|UniProtKB:Q91V27}.
CC -!- SUBCELLULAR LOCATION: Melanosome {ECO:0000250|UniProtKB:Q91V27}.
CC -!- POLYMORPHISM: An allelic variation in MLPH, resulting in a severely
CC truncated protein, has been shown to be associated with the dilute coat
CC color phenotype. This trait is autosomal recessive.
CC {ECO:0000269|PubMed:16860533}.
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DR EMBL; DQ469741; ABF06442.1; -; mRNA.
DR EMBL; DQ469742; ABF06443.1; -; mRNA.
DR EMBL; AANG04002752; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; NP_001073123.1; NM_001079655.1.
DR AlphaFoldDB; M3WHG5; -.
DR SMR; M3WHG5; -.
DR Ensembl; ENSFCAT00000012725; ENSFCAP00000011795; ENSFCAG00000012722.
DR GeneID; 780791; -.
DR KEGG; fca:780791; -.
DR CTD; 79083; -.
DR VGNC; VGNC:63526; MLPH.
DR GeneTree; ENSGT00950000183138; -.
DR HOGENOM; CLU_025193_2_0_1; -.
DR Proteomes; UP000011712; Chromosome C1.
DR Bgee; ENSFCAG00000012722; Expressed in eyeball of camera-type eye and 7 other tissues.
DR GO; GO:0042470; C:melanosome; IEA:UniProtKB-SubCell.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0031267; F:small GTPase binding; IEA:InterPro.
DR GO; GO:0006886; P:intracellular protein transport; IEA:InterPro.
DR CDD; cd15752; FYVE_SlaC2-a; 1.
DR Gene3D; 3.30.40.10; -; 1.
DR InterPro; IPR041282; FYVE_2.
DR InterPro; IPR037442; Melanophilin_FYVE-rel_dom.
DR InterPro; IPR006788; Myrip/Melanophilin.
DR InterPro; IPR010911; Rab_BD.
DR InterPro; IPR011011; Znf_FYVE_PHD.
DR InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR Pfam; PF02318; FYVE_2; 1.
DR Pfam; PF04698; Rab_eff_C; 1.
DR SUPFAM; SSF57903; SSF57903; 1.
DR PROSITE; PS50916; RABBD; 1.
PE 2: Evidence at transcript level;
KW Coiled coil; Metal-binding; Reference proteome; Repeat; Zinc; Zinc-finger.
FT CHAIN 1..569
FT /note="Melanophilin"
FT /id="PRO_0000452322"
FT DOMAIN 4..124
FT /note="RabBD"
FT /evidence="ECO:0000305"
FT ZN_FING 58..112
FT /note="FYVE-type"
FT /evidence="ECO:0000305"
FT REGION 143..430
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 490..569
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 431..465
FT /evidence="ECO:0000255"
FT COMPBIAS 216..230
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 259..284
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 342..363
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 371..387
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 403..425
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 538..555
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 28..569
FT /note="LRRKEEERLGGLKDRIKKESSQRELLSDAAHLNETHCARCLQPYRLLVAPKR
FT QCLDCHLFTCQDCSHAHPEEEGWLCDPCHLARVVKMGSLEWYYGHLRARFKRFGSAKVI
FT RSLCGRLQGGGGPEPSPGEGSGDSEQTEEDGELDTVAQAQPLGSKKKRLSIHGLDFDAD
FT SDGSTQSSGHPPYLSPVPMATDSLQTLTGEPRAKDTSQEAVVLEEADVGAPGCHPHPEE
FT QTDSLSAARQDTLTEPRFPRQSCTTALGLAVTPGPGVISSSERLSSRYPADEGTSDDED
FT TGADGVASQSLTWRDCAPAESQHLTGHQPTDADREEETLKRKLEEMTSHISDQGASSEE
FT EGSKEEEAGLNRKTSIEDLPGAAPEVLVASGQTSRQETSPRGPQELMQPGRTTDQELLE
FT LEDRVAVTASEVQQVESEVSNIKSKIAALQAAGLSVRPSGKPQRRSNLPIFLPRLVGRL
FT GQTPKDPNAEPSDEVKVMTAPYLLRRKFSNPPKSQDKAGDSFDRQSAYRGSLTQRNPNS
FT RKGVANHSFAKPVMTQRP -> REGKKRKGWGD (associated with the
FT dilute coat color phenotype)"
FT /evidence="ECO:0000269|PubMed:16860533"
FT VARIANT 205
FT /note="S -> G"
FT /evidence="ECO:0000269|PubMed:16860533"
FT VARIANT 223
FT /note="T -> A"
FT /evidence="ECO:0000269|PubMed:16860533"
FT VARIANT 228
FT /note="P -> S"
FT /evidence="ECO:0000269|PubMed:16860533"
FT VARIANT 250
FT /note="C -> F"
FT /evidence="ECO:0000269|PubMed:16860533"
FT VARIANT 250
FT /note="C -> L"
FT /evidence="ECO:0000269|PubMed:16860533"
FT VARIANT 250
FT /note="C -> R"
FT /evidence="ECO:0000269|PubMed:16860533"
FT VARIANT 404
FT /note="S -> A"
FT /evidence="ECO:0000269|PubMed:16860533"
SQ SEQUENCE 569 AA; 62228 MW; 6D767547B58E9429 CRC64;
MGKKLDLSKL TDDEAKHIWE VVQRDFDLRR KEEERLGGLK DRIKKESSQR ELLSDAAHLN
ETHCARCLQP YRLLVAPKRQ CLDCHLFTCQ DCSHAHPEEE GWLCDPCHLA RVVKMGSLEW
YYGHLRARFK RFGSAKVIRS LCGRLQGGGG PEPSPGEGSG DSEQTEEDGE LDTVAQAQPL
GSKKKRLSIH GLDFDADSDG STQSSGHPPY LSPVPMATDS LQTLTGEPRA KDTSQEAVVL
EEADVGAPGC HPHPEEQTDS LSAARQDTLT EPRFPRQSCT TALGLAVTPG PGVISSSERL
SSRYPADEGT SDDEDTGADG VASQSLTWRD CAPAESQHLT GHQPTDADRE EETLKRKLEE
MTSHISDQGA SSEEEGSKEE EAGLNRKTSI EDLPGAAPEV LVASGQTSRQ ETSPRGPQEL
MQPGRTTDQE LLELEDRVAV TASEVQQVES EVSNIKSKIA ALQAAGLSVR PSGKPQRRSN
LPIFLPRLVG RLGQTPKDPN AEPSDEVKVM TAPYLLRRKF SNPPKSQDKA GDSFDRQSAY
RGSLTQRNPN SRKGVANHSF AKPVMTQRP
