ID RHDF2_HUMAN Reviewed; 856 AA. AC Q6PJF5; A6NEM3; A8K801; Q5U607; Q5YGQ8; Q9H6E9; DT 01-JUL-2008, integrated into UniProtKB/Swiss-Prot. DT 01-JUL-2008, sequence version 2. DT 20-APR-2010, entry version 50. DE RecName: Full=Rhomboid family member 2; DE AltName: Full=Rhomboid 5 homolog 2; DE AltName: Full=Rhomboid veinlet-like protein 5; DE AltName: Full=Rhomboid veinlet-like protein 6; GN Name=RHBDF2; Synonyms=RHBDL5, RHBDL6; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANT LEU-208. RC TISSUE=Liver; RA Kong X., Teng X., Hu L.; RT "Molecular cloning of human RHBDL5."; RL Submitted (DEC-2003) to the EMBL/GenBank/DDBJ databases. RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT RP LEU-208. RC TISSUE=Kidney epithelium, Spleen, and 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., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA 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., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16625196; DOI=10.1038/nature04689; RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.; RT "DNA sequence of human chromosome 17 and analysis of rearrangement in RT the human lineage."; RL Nature 440:1045-1049(2006). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT RP LEU-208. RC TISSUE=Eye, and Uterus; 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [5] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-90; SER-325 AND SER-328, RP AND MASS SPECTROMETRY. RX PubMed=18669648; DOI=10.1073/pnas.0805139105; RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., RA Elledge S.J., Gygi S.P.; RT "A quantitative atlas of mitotic phosphorylation."; RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008). CC -!- FUNCTION: Not expected to have protease activity (By similarity). CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass CC membrane protein (By similarity). CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q6PJF5-1; Sequence=Displayed; CC Name=2; CC IsoId=Q6PJF5-2; Sequence=VSP_034368; CC -!- SIMILARITY: Belongs to the peptidase S54 family. CC -!- CAUTION: Lacks the conserved Ser residue in position 721 essential CC for serine protease activity. Its enzyme activity is therefore CC unsure. CC -!- SEQUENCE CAUTION: CC Sequence=AAH35829.1; Type=Erroneous initiation; CC Sequence=BAB15310.1; Type=Erroneous initiation; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AY500247; AAS77567.1; -; mRNA. DR EMBL; AK025994; BAB15310.1; ALT_INIT; mRNA. DR EMBL; AK292135; BAF84824.1; -; mRNA. DR EMBL; AK292166; BAF84855.1; -; mRNA. DR EMBL; AC015802; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC035829; AAH35829.1; ALT_INIT; mRNA. DR EMBL; BC016034; AAH16034.2; -; mRNA. DR IPI; IPI00433499; -. DR IPI; IPI00470604; -. DR RefSeq; NP_001005498.2; -. DR RefSeq; NP_078875.3; -. DR UniGene; Hs.464157; -. DR SMR; Q6PJF5; 647-786. DR STRING; Q6PJF5; -. DR MEROPS; S54.953; -. DR PRIDE; Q6PJF5; -. DR Ensembl; ENST00000313080; ENSP00000322775; ENSG00000129667; Homo sapiens. DR GeneID; 79651; -. DR KEGG; hsa:79651; -. DR UCSC; uc002jrp.1; human. DR UCSC; uc002jrq.1; human. DR CTD; 79651; -. DR GeneCards; GC17M071979; -. DR HGNC; HGNC:20788; RHBDF2. DR eggNOG; prNOG05547; -. DR HOGENOM; HBG358095; -. DR HOVERGEN; HBG059673; -. DR InParanoid; Q6PJF5; -. DR OMA; TIPPPET; -. DR OrthoDB; EOG9S4S1P; -. DR NextBio; 68812; -. DR ArrayExpress; Q6PJF5; -. DR Bgee; Q6PJF5; -. DR CleanEx; HS_RHBDF2; -. DR Genevestigator; Q6PJF5; -. DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW. DR InterPro; IPR002610; Peptidase_S54_rhomboid. DR InterPro; IPR022241; Rhomboid_SP. DR PANTHER; PTHR22936; Peptidase_S54_rhomboid; 1. DR Pfam; PF01694; Rhomboid; 1. DR Pfam; PF12595; Rhomboid_SP; 1. PE 1: Evidence at protein level; KW Alternative splicing; Complete proteome; Endoplasmic reticulum; KW Membrane; Phosphoprotein; Polymorphism; Transmembrane. FT CHAIN 1 856 Rhomboid family member 2. FT /FTId=PRO_0000341938. FT TOPO_DOM 1 409 Cytoplasmic (Potential). FT TRANSMEM 410 430 Potential. FT TOPO_DOM 431 660 Lumenal (Potential). FT TRANSMEM 661 681 Potential. FT TOPO_DOM 682 692 Cytoplasmic (Potential). FT TRANSMEM 693 713 Potential. FT TOPO_DOM 714 715 Lumenal (Potential). FT TRANSMEM 716 736 Potential. FT TOPO_DOM 737 747 Cytoplasmic (Potential). FT TRANSMEM 748 768 Potential. FT TOPO_DOM 769 773 Lumenal (Potential). FT TRANSMEM 774 794 Potential. FT TOPO_DOM 795 802 Cytoplasmic (Potential). FT TRANSMEM 803 823 Potential. FT TOPO_DOM 824 856 Lumenal (Potential). FT MOD_RES 90 90 Phosphoserine. FT MOD_RES 113 113 Phosphoserine (By similarity). FT MOD_RES 117 117 Phosphoserine (By similarity). FT MOD_RES 323 323 Phosphoserine (By similarity). FT MOD_RES 325 325 Phosphoserine. FT MOD_RES 328 328 Phosphoserine. FT MOD_RES 387 387 Phosphoserine (By similarity). FT VAR_SEQ 51 79 Missing (in isoform 2). FT /FTId=VSP_034368. FT VARIANT 208 208 P -> L (in dbSNP:rs3744045). FT /FTId=VAR_044125. FT VARIANT 249 249 A -> T (in dbSNP:rs34814954). FT /FTId=VAR_044126. FT VARIANT 528 528 D -> Y (in dbSNP:rs11553545). FT /FTId=VAR_044127. FT CONFLICT 67 67 A -> S (in Ref. 2; BAF84824 and 4; FT AAH16034). FT CONFLICT 705 705 N -> D (in Ref. 2; BAF84855). FT CONFLICT 852 852 D -> G (in Ref. 2; BAF84855). SQ SEQUENCE 856 AA; 96686 MW; 69C40A21EBDBDDC0 CRC64; MASADKNGGS VSSVSSSRLQ SRKPPNLSIT IPPPEKETQA PGEQDSMLPE GFQNRRLKKS QPRTWAAHTT ACPPSFLPKR KNPAYLKSVS LQEPRSRWQE SSEKRPGFRR QASLSQSIRK GAAQWFGVSG DWEGQRQQWQ RRSLHHCSMR YGRLKASCQR DLELPSQEAP SFQGTESPKP CKMPKIVDPL ARGRAFRHPE EMDRPHAPHP PLTPGVLSLT SFTSVRSGYS HLPRRKRMSV AHMSLQAAAA LLKGRSVLDA TGQRCRVVKR SFAFPSFLEE DVVDGADTFD SSFFSKEEMS SMPDDVFESP PLSASYFRGI PHSASPVSPD GVQIPLKEYG RAPVPGPRRG KRIASKVKHF AFDRKKRHYG LGVVGNWLNR SYRRSISSTV QRQLESFDSH RPYFTYWLTF VHVIITLLVI CTYGIAPVGF AQHVTTQLVL RNKGVYESVK YIQQENFWVG PSSIDLIHLG AKFSPCIRKD GQIEQLVLRE RDLERDSGCC VQNDHSGCIQ TQRKDCSETL ATFVKWQDDT GPPMDKSDLG QKRTSGAVCH QDPRTCEEPA SSGAHIWPDD ITKWPICTEQ ARSNHTGFLH MDCEIKGRPC CIGTKGSCEI TTREYCEFMH GYFHEEATLC SQVHCLDKVC GLLPFLNPEV PDQFYRLWLS LFLHAGVVHC LVSVVFQMTI LRDLEKLAGW HRIAIIFILS GITGNLASAI FLPYRAEVGP AGSQFGLLAC LFVELFQSWP LLERPWKAFL NLSAIVLFLF ICGLLPWIDN IAHIFGFLSG LLLAFAFLPY ITFGTSDKYR KRALILVSLL AFAGLFAALV LWLYIYPINW PWIEHLTCFP FTSRFCEKYE LDQVLH //