MBRL_HUMAN
ID MBRL_HUMAN Reviewed; 620 AA.
AC Q4ZIN3; O60392; Q8NF79; Q96H30;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 07-JUN-2005, sequence version 1.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Membralin;
DE AltName: Full=Transmembrane protein 259;
GN Name=TMEM259; Synonyms=C19orf6;
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 [MRNA] (ISOFORMS 1 AND 2).
RX PubMed=12638133; DOI=10.1016/s1567-133x(02)00019-4;
RA Andersson O., von Euler G.;
RT "Characterization and expression of the gene encoding membralin, an
RT evolutionary conserved protein expressed in the central nervous system.";
RL Gene Expr. Patterns 1:205-212(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND ALTERNATIVE SPLICING.
RC TISSUE=Mammary carcinoma, and Ovarian carcinoma;
RX PubMed=16084606; DOI=10.1016/j.bbaexp.2005.06.008;
RA Chen Y.-C., Davidson B., Cheng C.-C., Maitra A., Giuntoli R.L. II,
RA Hruban R.H., Wang T.-L., Shih I.-M.;
RT "Identification and characterization of membralin, a novel tumor-associated
RT gene, in ovarian carcinoma.";
RL Biochim. Biophys. Acta 1730:96-102(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Muscle;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 264-620 (ISOFORM 1).
RC TISSUE=Spleen;
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 [6]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-189.
RC TISSUE=Liver;
RX PubMed=19159218; DOI=10.1021/pr8008012;
RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
RT "Glycoproteomics analysis of human liver tissue by combination of multiple
RT enzyme digestion and hydrazide chemistry.";
RL J. Proteome Res. 8:651-661(2009).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=22223895; DOI=10.1074/mcp.m111.015131;
RA Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T.,
RA Giglione C.;
RT "Comparative large-scale characterisation of plant vs. mammal proteins
RT reveals similar and idiosyncratic N-alpha acetylation features.";
RL Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-29, AND IDENTIFICATION BY
RP 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).
CC -!- FUNCTION: May have a role in the ERAD pathway required for clearance of
CC misfolded proteins in the endoplasmic reticulum (ER). Promotes survival
CC of motor neurons, probably by protecting against ER stress.
CC {ECO:0000250|UniProtKB:Q8CIV2}.
CC -!- SUBUNIT: Interacts with ERLIN2. {ECO:0000250|UniProtKB:Q8CIV2}.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000250|UniProtKB:Q8CIV2}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=Long, Membralin-1;
CC IsoId=Q4ZIN3-1; Sequence=Displayed;
CC Name=2; Synonyms=Short, Membralin-2, Membralin-3;
CC IsoId=Q4ZIN3-2; Sequence=VSP_014377, VSP_014378;
CC -!- SIMILARITY: Belongs to the membralin family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC12681.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; DQ005958; AAY27747.1; -; mRNA.
DR EMBL; AC004528; AAC12681.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC008957; AAH08957.1; -; mRNA.
DR EMBL; AK090400; BAC03381.1; -; mRNA.
DR CCDS; CCDS12052.1; -. [Q4ZIN3-2]
DR CCDS; CCDS32862.1; -. [Q4ZIN3-1]
DR RefSeq; NP_001028198.1; NM_001033026.1. [Q4ZIN3-1]
DR RefSeq; NP_219488.1; NM_033420.3. [Q4ZIN3-2]
DR AlphaFoldDB; Q4ZIN3; -.
DR BioGRID; 124814; 139.
DR IntAct; Q4ZIN3; 21.
DR MINT; Q4ZIN3; -.
DR STRING; 9606.ENSP00000349087; -.
DR GlyGen; Q4ZIN3; 1 site.
DR iPTMnet; Q4ZIN3; -.
DR PhosphoSitePlus; Q4ZIN3; -.
DR BioMuta; TMEM259; -.
DR DMDM; 68565394; -.
DR EPD; Q4ZIN3; -.
DR jPOST; Q4ZIN3; -.
DR MassIVE; Q4ZIN3; -.
DR MaxQB; Q4ZIN3; -.
DR PaxDb; Q4ZIN3; -.
DR PeptideAtlas; Q4ZIN3; -.
DR PRIDE; Q4ZIN3; -.
DR ProteomicsDB; 62384; -. [Q4ZIN3-1]
DR ProteomicsDB; 62385; -. [Q4ZIN3-2]
DR Antibodypedia; 10308; 76 antibodies from 18 providers.
DR DNASU; 91304; -.
DR Ensembl; ENST00000333175.9; ENSP00000331423.4; ENSG00000182087.14. [Q4ZIN3-2]
DR Ensembl; ENST00000356663.8; ENSP00000349087.2; ENSG00000182087.14. [Q4ZIN3-1]
DR GeneID; 91304; -.
DR KEGG; hsa:91304; -.
DR MANE-Select; ENST00000356663.8; ENSP00000349087.2; NM_001033026.2; NP_001028198.1.
DR UCSC; uc002lqr.2; human. [Q4ZIN3-1]
DR CTD; 91304; -.
DR DisGeNET; 91304; -.
DR GeneCards; TMEM259; -.
DR HGNC; HGNC:17039; TMEM259.
DR HPA; ENSG00000182087; Low tissue specificity.
DR MIM; 611011; gene.
DR neXtProt; NX_Q4ZIN3; -.
DR OpenTargets; ENSG00000182087; -.
DR PharmGKB; PA134936083; -.
DR VEuPathDB; HostDB:ENSG00000182087; -.
DR eggNOG; KOG2092; Eukaryota.
DR GeneTree; ENSGT00390000013329; -.
DR HOGENOM; CLU_019069_2_1_1; -.
DR InParanoid; Q4ZIN3; -.
DR OMA; MTVDMFE; -.
DR OrthoDB; 426985at2759; -.
DR PhylomeDB; Q4ZIN3; -.
DR TreeFam; TF313323; -.
DR PathwayCommons; Q4ZIN3; -.
DR SignaLink; Q4ZIN3; -.
DR BioGRID-ORCS; 91304; 27 hits in 1078 CRISPR screens.
DR ChiTaRS; TMEM259; human.
DR GenomeRNAi; 91304; -.
DR Pharos; Q4ZIN3; Tbio.
DR PRO; PR:Q4ZIN3; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q4ZIN3; protein.
DR Bgee; ENSG00000182087; Expressed in adenohypophysis and 172 other tissues.
DR ExpressionAtlas; Q4ZIN3; baseline and differential.
DR Genevisible; Q4ZIN3; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IBA:GO_Central.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:1901215; P:negative regulation of neuron death; IEA:Ensembl.
DR GO; GO:1904294; P:positive regulation of ERAD pathway; IBA:GO_Central.
DR GO; GO:0034976; P:response to endoplasmic reticulum stress; IBA:GO_Central.
DR InterPro; IPR019144; Membralin.
DR PANTHER; PTHR21650:SF4; PTHR21650:SF4; 1.
DR Pfam; PF09746; Membralin; 2.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Endoplasmic reticulum; Glycoprotein;
KW Membrane; Phosphoprotein; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:22223895"
FT CHAIN 2..620
FT /note="Membralin"
FT /id="PRO_0000096273"
FT TRANSMEM 70..90
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 302..322
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 346..366
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 426..446
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..33
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 474..517
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 568..620
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 478..492
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="N-acetylserine"
FT /evidence="ECO:0007744|PubMed:22223895"
FT MOD_RES 29
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT CARBOHYD 189
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:19159218"
FT VAR_SEQ 407..408
FT /note="FF -> IP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12638133,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:16084606"
FT /id="VSP_014377"
FT VAR_SEQ 409..620
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12638133,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:16084606"
FT /id="VSP_014378"
SQ SEQUENCE 620 AA; 67889 MW; 7403EBF121ACD8A4 CRC64;
MSEHVEPAAP GPGPNGGGGG PAPARGPRTP NLNPNPLINV RDRLFHALFF KMAVTYSRLF
PPAFRRLFEF FVLLKALFVL FVLAYIHIVF SRSPINCLEH VRDKWPREGI LRVEVRHNSS
RAPVFLQFCD SGGRGSFPGL AVEPGSNLDM EDEEEEELTM EMFGNSSIKF ELDIEPKVFK
PPSSTEALND SQEFPFPETP TKVWPQDEYI VEYSLEYGFL RLSQATRQRL SIPVMVVTLD
PTRDQCFGDR FSRLLLDEFL GYDDILMSSV KGLAENEENK GFLRNVVSGE HYRFVSMWMA
RTSYLAAFAI MVIFTLSVSM LLRYSHHQIF VFIVDLLQML EMNMAIAFPA APLLTVILAL
VGMEAIMSEF FNDTTTAFYI ILIVWLADQY DAICCHTSTS KRHWLRFFYL YHFAFYAYHY
RFNGQYSSLA LVTSWLFIQH SMIYFFHHYE LPAILQQVRI QEMLLQAPPL GPGTPTALPD
DMNNNSGAPA TAPDSAGQPP ALGPVSPGAS GSPGPVAAAP SSLVAAAASV AAAAGGDLGW
MAETAAIITD ASFLSGLSAS LLERRPASPL GPAGGLPHAP QDSVPPSDSA ASDTTPLGAA
VGGPSPASMA PTEAPSEVGS
