ID   RHBD3_HUMAN             Reviewed;         386 AA.
AC   Q9Y3P4; Q6I9X3; Q9UGQ7;
DT   16-APR-2002, integrated into UniProtKB/Swiss-Prot.
DT   01-NOV-1999, sequence version 1.
DT   03-AUG-2022, entry version 159.
DE   RecName: Full=Rhomboid domain-containing protein 3;
GN   Name=RHBDD3; Synonyms=C22orf3;
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].
RX   PubMed=12529303; DOI=10.1101/gr.695703;
RA   Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S.,
RA   Bye J.M., Beare D.M., Dunham I.;
RT   "Reevaluating human gene annotation: a second-generation analysis of
RT   chromosome 22.";
RL   Genome Res. 13:27-36(2003).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA   Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT   "Cloning of human full open reading frames in Gateway(TM) system entry
RT   vector (pDONR201).";
RL   Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX   PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA   Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA   Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA   Beare D.M., Dunham I.;
RT   "A genome annotation-driven approach to cloning the human ORFeome.";
RL   Genome Biol. 5:R84.1-R84.11(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=10591208; DOI=10.1038/990031;
RA   Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA   Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA   Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA   Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA   Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA   Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA   Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA   Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA   Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA   Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA   Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA   Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA   Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA   Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA   Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA   Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA   Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA   Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA   Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA   Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA   Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA   Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA   Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA   Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA   Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA   Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA   Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA   Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA   Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA   Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA   Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA   Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA   Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA   McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA   Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA   Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA   Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA   Wright H.;
RT   "The DNA sequence of human chromosome 22.";
RL   Nature 402:489-495(1999).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
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).
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC       protein {ECO:0000305}.
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DR   EMBL; AL050346; CAB43551.1; -; mRNA.
DR   EMBL; CR457382; CAG33663.1; -; mRNA.
DR   EMBL; CR456411; CAG30297.1; -; mRNA.
DR   EMBL; AL031186; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC002705; AAH02705.1; -; mRNA.
DR   CCDS; CCDS13850.1; -.
DR   RefSeq; NP_001316465.1; NM_001329536.1.
DR   RefSeq; NP_036397.1; NM_012265.2.
DR   AlphaFoldDB; Q9Y3P4; -.
DR   BioGRID; 117339; 31.
DR   IntAct; Q9Y3P4; 14.
DR   STRING; 9606.ENSP00000216085; -.
DR   iPTMnet; Q9Y3P4; -.
DR   PhosphoSitePlus; Q9Y3P4; -.
DR   BioMuta; RHBDD3; -.
DR   DMDM; 20177875; -.
DR   EPD; Q9Y3P4; -.
DR   jPOST; Q9Y3P4; -.
DR   MassIVE; Q9Y3P4; -.
DR   MaxQB; Q9Y3P4; -.
DR   PaxDb; Q9Y3P4; -.
DR   PeptideAtlas; Q9Y3P4; -.
DR   PRIDE; Q9Y3P4; -.
DR   ProteomicsDB; 86052; -.
DR   TopDownProteomics; Q9Y3P4; -.
DR   Antibodypedia; 45284; 87 antibodies from 23 providers.
DR   DNASU; 25807; -.
DR   Ensembl; ENST00000216085.12; ENSP00000216085.7; ENSG00000100263.14.
DR   GeneID; 25807; -.
DR   KEGG; hsa:25807; -.
DR   MANE-Select; ENST00000216085.12; ENSP00000216085.7; NM_012265.3; NP_036397.1.
DR   UCSC; uc003aeq.2; human.
DR   CTD; 25807; -.
DR   DisGeNET; 25807; -.
DR   GeneCards; RHBDD3; -.
DR   HGNC; HGNC:1308; RHBDD3.
DR   HPA; ENSG00000100263; Low tissue specificity.
DR   neXtProt; NX_Q9Y3P4; -.
DR   OpenTargets; ENSG00000100263; -.
DR   PharmGKB; PA25887; -.
DR   VEuPathDB; HostDB:ENSG00000100263; -.
DR   eggNOG; KOG2632; Eukaryota.
DR   GeneTree; ENSGT00390000013711; -.
DR   HOGENOM; CLU_060547_0_0_1; -.
DR   InParanoid; Q9Y3P4; -.
DR   OMA; MYAGGIQ; -.
DR   OrthoDB; 849873at2759; -.
DR   PhylomeDB; Q9Y3P4; -.
DR   TreeFam; TF332785; -.
DR   PathwayCommons; Q9Y3P4; -.
DR   SignaLink; Q9Y3P4; -.
DR   BioGRID-ORCS; 25807; 19 hits in 1073 CRISPR screens.
DR   ChiTaRS; RHBDD3; human.
DR   GenomeRNAi; 25807; -.
DR   Pharos; Q9Y3P4; Tbio.
DR   PRO; PR:Q9Y3P4; -.
DR   Proteomes; UP000005640; Chromosome 22.
DR   RNAct; Q9Y3P4; protein.
DR   Bgee; ENSG00000100263; Expressed in pancreatic ductal cell and 187 other tissues.
DR   ExpressionAtlas; Q9Y3P4; baseline and differential.
DR   Genevisible; Q9Y3P4; HS.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0004252; F:serine-type endopeptidase activity; IBA:GO_Central.
DR   GO; GO:0001889; P:liver development; IEA:Ensembl.
DR   GO; GO:0000165; P:MAPK cascade; IEA:Ensembl.
DR   GO; GO:0032815; P:negative regulation of natural killer cell activation; IEA:Ensembl.
DR   GO; GO:0045732; P:positive regulation of protein catabolic process; IEA:Ensembl.
DR   GO; GO:0002673; P:regulation of acute inflammatory response; IEA:Ensembl.
DR   GO; GO:0050708; P:regulation of protein secretion; IEA:Ensembl.
DR   GO; GO:0009410; P:response to xenobiotic stimulus; IEA:Ensembl.
DR   Gene3D; 1.20.1540.10; -; 1.
DR   InterPro; IPR022764; Peptidase_S54_rhomboid_dom.
DR   InterPro; IPR041922; RHBDD3.
DR   InterPro; IPR035952; Rhomboid-like_sf.
DR   InterPro; IPR015940; UBA.
DR   InterPro; IPR009060; UBA-like_sf.
DR   PANTHER; PTHR43066:SF16; PTHR43066:SF16; 1.
DR   Pfam; PF01694; Rhomboid; 1.
DR   Pfam; PF00627; UBA; 1.
DR   SUPFAM; SSF144091; SSF144091; 1.
DR   SUPFAM; SSF46934; SSF46934; 1.
PE   2: Evidence at transcript level;
KW   Membrane; Reference proteome; Transmembrane; Transmembrane helix.
FT   CHAIN           1..386
FT                   /note="Rhomboid domain-containing protein 3"
FT                   /id="PRO_0000079569"
FT   TRANSMEM        20..40
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        58..78
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        92..112
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        141..161
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        163..183
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   DOMAIN          324..362
FT                   /note="UBA"
FT   VARIANT         86
FT                   /note="T -> M (in dbSNP:rs2272902)"
FT                   /id="VAR_021952"
FT   VARIANT         227
FT                   /note="H -> R (in dbSNP:rs2231397)"
FT                   /id="VAR_051582"
SQ   SEQUENCE   386 AA;  40484 MW;  48412BA5A9DD5C6B CRC64;
     MHARGPHGQL SPALPLASSV LMLLMSTLWL VGAGPGLVLA PELLLDPWQV HRLLTHALGH
     TALPGLLLSL LLLPTVGWQQ ECHLGTLRFL HASALLALAS GLLAVLLAGL GLSSAAGSCG
     YMPVHLAMLA GEGHRPRRPR GALPPWLSPW LLLALTPLLS SEPPFLQLLC GLLAGLAYAA
     GAFRWLEPSE RRLQVLQEGV LCRTLAGCWP LRLLATPGSL AELPVTHPAG VRPPIPGPPY
     VASPDLWSHW EDSALPPPSL RPVQPTWEGS SEAGLDWAGA SFSPGTPMWA ALDEQMLQEG
     IQASLLDGPA QEPQSAPWLS KSSVSSLRLQ QLERMGFPTE QAVVALAATG RVEGAVSLLV
     GGQVGTETLV THGKGGPAHS EGPGPP