RMC1_HUMAN
ID RMC1_HUMAN Reviewed; 657 AA.
AC Q96DM3; Q9BU17; Q9Y5M0;
DT 24-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT 24-MAY-2004, sequence version 2.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Regulator of MON1-CCZ1 complex {ECO:0000303|PubMed:29038162};
DE AltName: Full=Colon cancer-associated protein Mic1;
DE Short=Mic-1;
DE AltName: Full=WD repeat-containing protein 98 {ECO:0000305};
GN Name=RMC1 {ECO:0000312|HGNC:HGNC:24326}; Synonyms=C18orf8, MIC1, WDR98;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Synovium;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 35-657.
RC TISSUE=Colon carcinoma;
RA Linnebacher M., Meuer S.C., Rudy W.;
RT "Identification of colon-cancer associated sequences by SSH.";
RL Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
RX PubMed=17897319; DOI=10.1111/j.1600-0854.2007.00643.x;
RA Schroeder B., Wrocklage C., Pan C., Jaeger R., Koesters B., Schaefer H.,
RA Elsaesser H.-P., Mann M., Hasilik A.;
RT "Integral and associated lysosomal membrane proteins.";
RL Traffic 8:1676-1686(2007).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN A COMPLEX WITH RMC1;
RP CCZ1; MON1A AND MON1B, SUBCELLULAR LOCATION, AND FUNCTION.
RX PubMed=29038162; DOI=10.1128/mcb.00392-17;
RA Pontano Vaites L., Paulo J.A., Huttlin E.L., Harper J.W.;
RT "Systematic analysis of human cells lacking ATG8 proteins uncovers roles
RT for GABARAPs and the CCZ1/MON1 regulator C18orf8/RMC1 in macro and
RT selective autophagic flux.";
RL Mol. Cell. Biol. 0:0-0(2017).
CC -!- FUNCTION: Componement of the CCZ1-MON1 RAB7A guanine exchange factor
CC (GEF). Acts as a positive regulator of CCZ1-MON1A/B function necessary
CC for endosomal/autophagic flux and efficient RAB7A localization
CC (PubMed:29038162). {ECO:0000269|PubMed:29038162}.
CC -!- SUBUNIT: Found in a complex with RMC1, CCZ1 MON1A and MON1B.
CC {ECO:0000269|PubMed:29038162}.
CC -!- INTERACTION:
CC Q96DM3; Q96A22: C11orf52; NbExp=3; IntAct=EBI-2804848, EBI-6660701;
CC -!- SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:17897319}.
CC Late endosome membrane {ECO:0000269|PubMed:29038162}.
CC -!- SIMILARITY: Belongs to the RMC1 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD33909.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK057192; BAB71377.1; -; mRNA.
DR EMBL; BC002950; AAH02950.2; -; mRNA.
DR EMBL; BC008305; AAH08305.2; -; mRNA.
DR EMBL; AF143536; AAD33909.1; ALT_INIT; mRNA.
DR EMBL; AC010853; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC026634; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS32803.1; -.
DR RefSeq; NP_001305636.1; NM_001318707.1.
DR RefSeq; NP_001305637.1; NM_001318708.1.
DR RefSeq; NP_001305638.1; NM_001318709.1.
DR RefSeq; NP_037458.3; NM_013326.4.
DR AlphaFoldDB; Q96DM3; -.
DR SMR; Q96DM3; -.
DR BioGRID; 118961; 139.
DR IntAct; Q96DM3; 9.
DR MINT; Q96DM3; -.
DR STRING; 9606.ENSP00000269221; -.
DR iPTMnet; Q96DM3; -.
DR PhosphoSitePlus; Q96DM3; -.
DR BioMuta; C18orf8; -.
DR DMDM; 47605918; -.
DR EPD; Q96DM3; -.
DR jPOST; Q96DM3; -.
DR MassIVE; Q96DM3; -.
DR MaxQB; Q96DM3; -.
DR PaxDb; Q96DM3; -.
DR PeptideAtlas; Q96DM3; -.
DR PRIDE; Q96DM3; -.
DR ProteomicsDB; 76295; -.
DR Antibodypedia; 22041; 212 antibodies from 32 providers.
DR DNASU; 29919; -.
DR Ensembl; ENST00000269221.8; ENSP00000269221.2; ENSG00000141452.10.
DR GeneID; 29919; -.
DR KEGG; hsa:29919; -.
DR MANE-Select; ENST00000269221.8; ENSP00000269221.2; NM_013326.5; NP_037458.3.
DR UCSC; uc021uie.3; human.
DR CTD; 29919; -.
DR DisGeNET; 29919; -.
DR GeneCards; RMC1; -.
DR HGNC; HGNC:24326; RMC1.
DR HPA; ENSG00000141452; Low tissue specificity.
DR neXtProt; NX_Q96DM3; -.
DR OpenTargets; ENSG00000141452; -.
DR PharmGKB; PA134862561; -.
DR VEuPathDB; HostDB:ENSG00000141452; -.
DR eggNOG; KOG2377; Eukaryota.
DR GeneTree; ENSGT00390000009127; -.
DR InParanoid; Q96DM3; -.
DR OMA; VWVHNRE; -.
DR OrthoDB; 440148at2759; -.
DR PhylomeDB; Q96DM3; -.
DR TreeFam; TF105850; -.
DR PathwayCommons; Q96DM3; -.
DR SignaLink; Q96DM3; -.
DR BioGRID-ORCS; 29919; 28 hits in 1070 CRISPR screens.
DR ChiTaRS; C18orf8; human.
DR GenomeRNAi; 29919; -.
DR Pharos; Q96DM3; Tbio.
DR PRO; PR:Q96DM3; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q96DM3; protein.
DR Bgee; ENSG00000141452; Expressed in secondary oocyte and 181 other tissues.
DR ExpressionAtlas; Q96DM3; baseline and differential.
DR Genevisible; Q96DM3; HS.
DR GO; GO:0031902; C:late endosome membrane; IDA:UniProtKB.
DR GO; GO:0005765; C:lysosomal membrane; HDA:UniProtKB.
DR GO; GO:0035658; C:Mon1-Ccz1 complex; IDA:UniProtKB.
DR GO; GO:0006914; P:autophagy; IEA:UniProtKB-KW.
DR GO; GO:0010506; P:regulation of autophagy; IMP:UniProtKB.
DR Gene3D; 2.130.10.10; -; 1.
DR InterPro; IPR040371; RMC1.
DR InterPro; IPR009755; RMC1_C.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR PANTHER; PTHR12897; PTHR12897; 1.
DR Pfam; PF07035; Mic1; 1.
DR SUPFAM; SSF50978; SSF50978; 1.
PE 1: Evidence at protein level;
KW Autophagy; Endosome; Lysosome; Membrane; Reference proteome.
FT CHAIN 1..657
FT /note="Regulator of MON1-CCZ1 complex"
FT /id="PRO_0000096481"
FT DOMAIN 471..637
FT /note="Mic1"
FT CONFLICT 163
FT /note="S -> R (in Ref. 1; BAB71377)"
FT /evidence="ECO:0000305"
FT CONFLICT 178
FT /note="Q -> L (in Ref. 4; AAD33909)"
FT /evidence="ECO:0000305"
FT CONFLICT 470
FT /note="E -> DFFLYGVFKHYRQ (in Ref. 4; AAD33909)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 657 AA; 74975 MW; DFDC8B304ADCA88C CRC64;
MGEEDYYLEL CERPVQFEKA NPVNCVFFDE ANKQVFAVRS GGATGVVVKG PDDRNPISFR
MDDKGEVKCI KFSLENKILA VQRTSKTVDF CNFIPDNSQL EYTQECKTKN ANILGFCWTS
STEIVFITDQ GIEFYQVLPE KRSLKLLKSH NLNVNWYMYC PESAVILLST TVLENVLQPF
HFRAGTMSKL PKFEIELPAA PKSTKPSLSE RDIAMATIYG QLYVLFLRHH SRTSNSTGAE
VVLYHLPREG ACKKMHILKL NRTGKFALNV VDNLVVVHHQ DTETSVIFDI KLRGEFDGSV
TFHHPVLPAR SIQPYQIPIT GPAAVTSQSP VPCKLYSSSW IVFQPDIIIS ASQGYLWNLQ
VKLEPIVNLL PDKGRLMDFL LQRKECKMVI LSVCSQMLSE SDRASLPVIA TVFDKLNHEY
KKYLDAEQSY AMAVEAGQSR SSPLLKRPVR TQAVLDQSDV YTHVLSAFVE KKEMPHKFVI
AVLMEYIRSL NQFQIAVQHY LHELVIKTLV QHNLFYMLHQ FLQYHVLSDS KPLACLLLSL
ESFYPPAHQL SLDMLKRLST ANDEIVEVLL SKHQVLAALR FIRGIGGHDN ISARKFLDAA
KQTEDNMLFY TIFRFFEQRN QRLRGSPNFT PGEHCEEHVA FFKQIFGDQA LMRPTTF
