Full text data of SAMM50
SAMM50
(SAM50)
[Confidence: low (only semi-automatic identification from reviews)]
Sorting and assembly machinery component 50 homolog (Transformation-related gene 3 protein; TRG-3)
Sorting and assembly machinery component 50 homolog (Transformation-related gene 3 protein; TRG-3)
UniProt
Q9Y512
ID SAM50_HUMAN Reviewed; 469 AA.
AC Q9Y512; Q53HC4; Q56VW7; Q969Y9; Q96I46; Q9NW85; Q9UQM9;
DT 24-JAN-2001, integrated into UniProtKB/Swiss-Prot.
read moreDT 28-NOV-2006, sequence version 3.
DT 22-JAN-2014, entry version 111.
DE RecName: Full=Sorting and assembly machinery component 50 homolog;
DE AltName: Full=Transformation-related gene 3 protein;
DE Short=TRG-3;
GN Name=SAMM50; Synonyms=SAM50; ORFNames=CGI-51, TRG3;
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 [LARGE SCALE MRNA].
RX PubMed=10810093; DOI=10.1101/gr.10.5.703;
RA Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.;
RT "Identification of novel human genes evolutionarily conserved in
RT Caenorhabditis elegans by comparative proteomics.";
RL Genome Res. 10:703-713(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kim J.W.;
RT "Identification of human transforming gene 3.";
RL Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS GLY-110 AND
RP VAL-345.
RC TISSUE=Embryo;
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 [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
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.,
RA Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K.,
RA Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Buck D., Burgess J.,
RA Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G.,
RA Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R.,
RA Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E.,
RA Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G.,
RA 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.,
RA Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A.,
RA Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M.,
RA Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T.,
RA Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J.,
RA Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T.,
RA Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T.,
RA Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L.,
RA Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M.,
RA 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.,
RA Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S.,
RA Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T.,
RA Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I.,
RA Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H.,
RA Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L.,
RA Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z.,
RA Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P.,
RA Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S.,
RA Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J.,
RA Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T.,
RA Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J.,
RA Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S.,
RA Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E.,
RA Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P.,
RA Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E.,
RA O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X.,
RA Khan A.S., Lane L., Tilahun Y., Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-345.
RC TISSUE=Lymph, Muscle, and Skin;
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 [9]
RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
RX PubMed=12601808; DOI=10.1002/pmic.200390024;
RA Lescuyer P., Strub J.-M., Luche S., Diemer H., Martinez P.,
RA Van Dorsselaer A., Lunardi J., Rabilloud T.;
RT "Progress in the definition of a reference human mitochondrial
RT proteome.";
RL Proteomics 3:157-167(2003).
RN [10]
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.,
RA Buerckstuemmer T., 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 [11]
RP INTERACTION WITH CHCHD3.
RX PubMed=21081504; DOI=10.1074/jbc.M110.171975;
RA Darshi M., Mendiola V.L., Mackey M.R., Murphy A.N., Koller A.,
RA Perkins G.A., Ellisman M.H., Taylor S.S.;
RT "ChChd3, an inner mitochondrial membrane protein, is essential for
RT maintaining crista integrity and mitochondrial function.";
RL J. Biol. Chem. 286:2918-2932(2011).
RN [12]
RP INTERACTION WITH THE MINOS/MITOS COMPLEX.
RX PubMed=22114354; DOI=10.1091/mbc.E11-09-0774;
RA Alkhaja A.K., Jans D.C., Nikolov M., Vukotic M., Lytovchenko O.,
RA Ludewig F., Schliebs W., Riedel D., Urlaub H., Jakobs S., Deckers M.;
RT "MINOS1 is a conserved component of mitofilin complexes and required
RT for mitochondrial function and cristae organization.";
RL Mol. Biol. Cell 23:247-257(2012).
CC -!- FUNCTION: May be required for the assembly pathway of
CC mitochondrial outer membrane proteins (By similarity).
CC -!- SUBUNIT: Associates with the MINOS/MitOS complex, that includes
CC IMMT, HSPA9 and CHCHD3.
CC -!- SUBCELLULAR LOCATION: Mitochondrion outer membrane; Multi-pass
CC membrane protein. Cytoplasm (By similarity).
CC -!- DOMAIN: Its C-terminal part seems to contain many membrane-
CC spanning sided beta-sheets, that have the potential to adopt a
CC transmembrane beta-barrel type structure (By similarity).
CC -!- SIMILARITY: Belongs to the SAM50/omp85 family.
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DR EMBL; AF151809; AAD34046.1; -; mRNA.
DR EMBL; AY189688; AAO85221.1; -; mRNA.
DR EMBL; AK001087; BAA91498.1; -; mRNA.
DR EMBL; CR456483; CAG30369.1; -; mRNA.
DR EMBL; AK222657; BAD96377.1; -; mRNA.
DR EMBL; AL035398; CAB51401.1; -; Genomic_DNA.
DR EMBL; CH471138; EAW73326.1; -; Genomic_DNA.
DR EMBL; BC007830; AAH07830.1; -; mRNA.
DR EMBL; BC011681; AAH11681.1; -; mRNA.
DR EMBL; BC015200; AAH15200.1; -; mRNA.
DR RefSeq; NP_056195.3; NM_015380.4.
DR UniGene; Hs.505824; -.
DR ProteinModelPortal; Q9Y512; -.
DR SMR; Q9Y512; 9-129.
DR IntAct; Q9Y512; 6.
DR MINT; MINT-1451034; -.
DR STRING; 9606.ENSP00000345445; -.
DR PhosphoSite; Q9Y512; -.
DR DMDM; 118572715; -.
DR PaxDb; Q9Y512; -.
DR PeptideAtlas; Q9Y512; -.
DR PRIDE; Q9Y512; -.
DR DNASU; 25813; -.
DR Ensembl; ENST00000350028; ENSP00000345445; ENSG00000100347.
DR GeneID; 25813; -.
DR KEGG; hsa:25813; -.
DR UCSC; uc003bej.3; human.
DR CTD; 25813; -.
DR GeneCards; GC22P044342; -.
DR HGNC; HGNC:24276; SAMM50.
DR HPA; HPA034537; -.
DR MIM; 612058; gene.
DR neXtProt; NX_Q9Y512; -.
DR PharmGKB; PA142670954; -.
DR eggNOG; COG4775; -.
DR HOVERGEN; HBG054614; -.
DR KO; K07277; -.
DR OMA; MTGSYNT; -.
DR OrthoDB; EOG7VMP51; -.
DR PhylomeDB; Q9Y512; -.
DR Reactome; REACT_17015; Metabolism of proteins.
DR ChiTaRS; SAMM50; human.
DR GeneWiki; SAMM50; -.
DR GenomeRNAi; 25813; -.
DR NextBio; 47039; -.
DR PRO; PR:Q9Y512; -.
DR ArrayExpress; Q9Y512; -.
DR Bgee; Q9Y512; -.
DR CleanEx; HS_SAMM50; -.
DR Genevestigator; Q9Y512; -.
DR GO; GO:0016021; C:integral to membrane; IDA:BHF-UCL.
DR GO; GO:0005743; C:mitochondrial inner membrane; IEA:Ensembl.
DR GO; GO:0001401; C:mitochondrial sorting and assembly machinery complex; IMP:BHF-UCL.
DR GO; GO:0044267; P:cellular protein metabolic process; TAS:Reactome.
DR GO; GO:0045040; P:protein import into mitochondrial outer membrane; IDA:BHF-UCL.
DR InterPro; IPR000184; Bac_surfAg_D15.
DR Pfam; PF01103; Bac_surface_Ag; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Cytoplasm; Membrane; Mitochondrion;
KW Mitochondrion outer membrane; Polymorphism; Reference proteome;
KW Transmembrane; Transmembrane beta strand.
FT CHAIN 1 469 Sorting and assembly machinery component
FT 50 homolog.
FT /FTId=PRO_0000215939.
FT VARIANT 110 110 D -> G (in dbSNP:rs3761472).
FT /FTId=VAR_057338.
FT VARIANT 345 345 I -> V (in dbSNP:rs8418).
FT /FTId=VAR_013768.
FT CONFLICT 10 10 E -> G (in Ref. 5; BAD96377).
FT CONFLICT 368 372 WAGGL -> LGRRW (in Ref. 1; AAD34046).
FT CONFLICT 371 371 Missing (in Ref. 8; AAH07830).
SQ SEQUENCE 469 AA; 51976 MW; 4F686FB7ACB08DEF CRC64;
MGTVHARSLE PLPSSGPDFG GLGEEAEFVE VEPEAKQEIL ENKDVVVQHV HFDGLGRTKD
DIIICEIGDV FKAKNLIEVM RKSHEAREKL LRLGIFRQVD VLIDTCQGDD ALPNGLDVTF
EVTELRRLTG SYNTMVGNNE GSMVLGLKLP NLLGRAEKVT FQFSYGTKET SYGLSFFKPR
PGNFERNFSV NLYKVTGQFP WSSLRETDRG MSAEYSFPIW KTSHTVKWEG VWRELGCLSR
TASFAVRKES GHSLKSSLSH AMVIDSRNSS ILPRRGALLK VNQELAGYTG GDVSFIKEDF
ELQLNKQLIF DSVFSASFWG GMLVPIGDKP SSIADRFYLG GPTSIRGFSM HSIGPQSEGD
YLGGEAYWAG GLHLYTPLPF RPGQGGFGEL FRTHFFLNAG NLCNLNYGEG PKAHIRKLAE
CIRWSYGAGI VLRLGNIARL ELNYCVPMGV QTGDRICDGV QFGAGIRFL
//
ID SAM50_HUMAN Reviewed; 469 AA.
AC Q9Y512; Q53HC4; Q56VW7; Q969Y9; Q96I46; Q9NW85; Q9UQM9;
DT 24-JAN-2001, integrated into UniProtKB/Swiss-Prot.
read moreDT 28-NOV-2006, sequence version 3.
DT 22-JAN-2014, entry version 111.
DE RecName: Full=Sorting and assembly machinery component 50 homolog;
DE AltName: Full=Transformation-related gene 3 protein;
DE Short=TRG-3;
GN Name=SAMM50; Synonyms=SAM50; ORFNames=CGI-51, TRG3;
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 [LARGE SCALE MRNA].
RX PubMed=10810093; DOI=10.1101/gr.10.5.703;
RA Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.;
RT "Identification of novel human genes evolutionarily conserved in
RT Caenorhabditis elegans by comparative proteomics.";
RL Genome Res. 10:703-713(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kim J.W.;
RT "Identification of human transforming gene 3.";
RL Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS GLY-110 AND
RP VAL-345.
RC TISSUE=Embryo;
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 [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
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.,
RA Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K.,
RA Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Buck D., Burgess J.,
RA Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G.,
RA Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R.,
RA Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E.,
RA Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G.,
RA 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.,
RA Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A.,
RA Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M.,
RA Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T.,
RA Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J.,
RA Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T.,
RA Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T.,
RA Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L.,
RA Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M.,
RA 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.,
RA Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S.,
RA Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T.,
RA Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I.,
RA Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H.,
RA Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L.,
RA Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z.,
RA Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P.,
RA Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S.,
RA Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J.,
RA Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T.,
RA Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J.,
RA Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S.,
RA Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E.,
RA Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P.,
RA Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E.,
RA O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X.,
RA Khan A.S., Lane L., Tilahun Y., Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-345.
RC TISSUE=Lymph, Muscle, and Skin;
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 [9]
RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
RX PubMed=12601808; DOI=10.1002/pmic.200390024;
RA Lescuyer P., Strub J.-M., Luche S., Diemer H., Martinez P.,
RA Van Dorsselaer A., Lunardi J., Rabilloud T.;
RT "Progress in the definition of a reference human mitochondrial
RT proteome.";
RL Proteomics 3:157-167(2003).
RN [10]
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.,
RA Buerckstuemmer T., 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 [11]
RP INTERACTION WITH CHCHD3.
RX PubMed=21081504; DOI=10.1074/jbc.M110.171975;
RA Darshi M., Mendiola V.L., Mackey M.R., Murphy A.N., Koller A.,
RA Perkins G.A., Ellisman M.H., Taylor S.S.;
RT "ChChd3, an inner mitochondrial membrane protein, is essential for
RT maintaining crista integrity and mitochondrial function.";
RL J. Biol. Chem. 286:2918-2932(2011).
RN [12]
RP INTERACTION WITH THE MINOS/MITOS COMPLEX.
RX PubMed=22114354; DOI=10.1091/mbc.E11-09-0774;
RA Alkhaja A.K., Jans D.C., Nikolov M., Vukotic M., Lytovchenko O.,
RA Ludewig F., Schliebs W., Riedel D., Urlaub H., Jakobs S., Deckers M.;
RT "MINOS1 is a conserved component of mitofilin complexes and required
RT for mitochondrial function and cristae organization.";
RL Mol. Biol. Cell 23:247-257(2012).
CC -!- FUNCTION: May be required for the assembly pathway of
CC mitochondrial outer membrane proteins (By similarity).
CC -!- SUBUNIT: Associates with the MINOS/MitOS complex, that includes
CC IMMT, HSPA9 and CHCHD3.
CC -!- SUBCELLULAR LOCATION: Mitochondrion outer membrane; Multi-pass
CC membrane protein. Cytoplasm (By similarity).
CC -!- DOMAIN: Its C-terminal part seems to contain many membrane-
CC spanning sided beta-sheets, that have the potential to adopt a
CC transmembrane beta-barrel type structure (By similarity).
CC -!- SIMILARITY: Belongs to the SAM50/omp85 family.
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DR EMBL; AF151809; AAD34046.1; -; mRNA.
DR EMBL; AY189688; AAO85221.1; -; mRNA.
DR EMBL; AK001087; BAA91498.1; -; mRNA.
DR EMBL; CR456483; CAG30369.1; -; mRNA.
DR EMBL; AK222657; BAD96377.1; -; mRNA.
DR EMBL; AL035398; CAB51401.1; -; Genomic_DNA.
DR EMBL; CH471138; EAW73326.1; -; Genomic_DNA.
DR EMBL; BC007830; AAH07830.1; -; mRNA.
DR EMBL; BC011681; AAH11681.1; -; mRNA.
DR EMBL; BC015200; AAH15200.1; -; mRNA.
DR RefSeq; NP_056195.3; NM_015380.4.
DR UniGene; Hs.505824; -.
DR ProteinModelPortal; Q9Y512; -.
DR SMR; Q9Y512; 9-129.
DR IntAct; Q9Y512; 6.
DR MINT; MINT-1451034; -.
DR STRING; 9606.ENSP00000345445; -.
DR PhosphoSite; Q9Y512; -.
DR DMDM; 118572715; -.
DR PaxDb; Q9Y512; -.
DR PeptideAtlas; Q9Y512; -.
DR PRIDE; Q9Y512; -.
DR DNASU; 25813; -.
DR Ensembl; ENST00000350028; ENSP00000345445; ENSG00000100347.
DR GeneID; 25813; -.
DR KEGG; hsa:25813; -.
DR UCSC; uc003bej.3; human.
DR CTD; 25813; -.
DR GeneCards; GC22P044342; -.
DR HGNC; HGNC:24276; SAMM50.
DR HPA; HPA034537; -.
DR MIM; 612058; gene.
DR neXtProt; NX_Q9Y512; -.
DR PharmGKB; PA142670954; -.
DR eggNOG; COG4775; -.
DR HOVERGEN; HBG054614; -.
DR KO; K07277; -.
DR OMA; MTGSYNT; -.
DR OrthoDB; EOG7VMP51; -.
DR PhylomeDB; Q9Y512; -.
DR Reactome; REACT_17015; Metabolism of proteins.
DR ChiTaRS; SAMM50; human.
DR GeneWiki; SAMM50; -.
DR GenomeRNAi; 25813; -.
DR NextBio; 47039; -.
DR PRO; PR:Q9Y512; -.
DR ArrayExpress; Q9Y512; -.
DR Bgee; Q9Y512; -.
DR CleanEx; HS_SAMM50; -.
DR Genevestigator; Q9Y512; -.
DR GO; GO:0016021; C:integral to membrane; IDA:BHF-UCL.
DR GO; GO:0005743; C:mitochondrial inner membrane; IEA:Ensembl.
DR GO; GO:0001401; C:mitochondrial sorting and assembly machinery complex; IMP:BHF-UCL.
DR GO; GO:0044267; P:cellular protein metabolic process; TAS:Reactome.
DR GO; GO:0045040; P:protein import into mitochondrial outer membrane; IDA:BHF-UCL.
DR InterPro; IPR000184; Bac_surfAg_D15.
DR Pfam; PF01103; Bac_surface_Ag; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Cytoplasm; Membrane; Mitochondrion;
KW Mitochondrion outer membrane; Polymorphism; Reference proteome;
KW Transmembrane; Transmembrane beta strand.
FT CHAIN 1 469 Sorting and assembly machinery component
FT 50 homolog.
FT /FTId=PRO_0000215939.
FT VARIANT 110 110 D -> G (in dbSNP:rs3761472).
FT /FTId=VAR_057338.
FT VARIANT 345 345 I -> V (in dbSNP:rs8418).
FT /FTId=VAR_013768.
FT CONFLICT 10 10 E -> G (in Ref. 5; BAD96377).
FT CONFLICT 368 372 WAGGL -> LGRRW (in Ref. 1; AAD34046).
FT CONFLICT 371 371 Missing (in Ref. 8; AAH07830).
SQ SEQUENCE 469 AA; 51976 MW; 4F686FB7ACB08DEF CRC64;
MGTVHARSLE PLPSSGPDFG GLGEEAEFVE VEPEAKQEIL ENKDVVVQHV HFDGLGRTKD
DIIICEIGDV FKAKNLIEVM RKSHEAREKL LRLGIFRQVD VLIDTCQGDD ALPNGLDVTF
EVTELRRLTG SYNTMVGNNE GSMVLGLKLP NLLGRAEKVT FQFSYGTKET SYGLSFFKPR
PGNFERNFSV NLYKVTGQFP WSSLRETDRG MSAEYSFPIW KTSHTVKWEG VWRELGCLSR
TASFAVRKES GHSLKSSLSH AMVIDSRNSS ILPRRGALLK VNQELAGYTG GDVSFIKEDF
ELQLNKQLIF DSVFSASFWG GMLVPIGDKP SSIADRFYLG GPTSIRGFSM HSIGPQSEGD
YLGGEAYWAG GLHLYTPLPF RPGQGGFGEL FRTHFFLNAG NLCNLNYGEG PKAHIRKLAE
CIRWSYGAGI VLRLGNIARL ELNYCVPMGV QTGDRICDGV QFGAGIRFL
//
MIM
612058
*RECORD*
*FIELD* NO
612058
*FIELD* TI
*612058 SORTING AND ASSEMBLY MACHINERY COMPONENT 50, S. CEREVISIAE, HOMOLOG
OF; SAMM50
read more;;SAM50
*FIELD* TX
DESCRIPTION
SAMM50 is a component of the sorting and assembly machinery (SAM)
complex of the outer mitochondrial membrane. The SAM complex has a role
in integrating beta-barrel proteins into the outer mitochondrial
membrane (Humphries et al., 2005).
GENE FUNCTION
Humphries et al. (2005) found that continued expression of
fluorescence-tagged human SAM50 in COS-7 cells impaired mitochondrial
morphology and shortened cellular life span, indicating that the fusion
protein was toxic. SAM50 was associated with a 200-kD protein complex
that was distinct from the 380-kD translocase of the outer mitochondrial
membrane (TOM) complex. RNA interference against SAM50 in human
embryonic kidney cells reduced assembly of TOM40 (TOMM40; 608061), an
essential component of the TOM complex involved in translocation and
sorting of proteins into mitochondria.
Using a monoclonal antibody directed against the mitochondrial inner
membrane protein mitofilin (IMMT; 600378), followed by SDS-PAGE and mass
spectrometry, Xie et al. (2007) identified a protein complex in human
heart mitochondria that, in addition to mitofilin, included SAMM50,
metaxin-1 (MTX1; 600605), metaxin-2 (MTX2; 608555), CHCHD3 (613748),
CHCHD6 (615634), and DNAJC11 (614827).
MAPPING
Hartz (2014) mapped the SAMM50 gene to chromosome 22q13.31 based on an
alignment of the SAMM50 sequence (GenBank GENBANK AF151809) with the
genomic sequence (GRCh37).
*FIELD* RF
1. Hartz, P. A.: Personal Communication. Baltimore, Md. 2/7/2014.
2. Humphries, A. D.; Streimann, I. C.; Stojanovski, D.; Johnston,
A. J.; Yano, M.; Hoogenraad, N. J.; Ryan, M. T.: Dissection of the
mitochondrial import and assembly pathway for human Tom40. J. Biol.
Chem. 280: 11535-11543, 2005.
3. Xie, J.; Marusich, M. F.; Souda, P.; Whitelegge, J.; Capaldi, R.
A.: The mitochondrial inner membrane protein mitofilin exists as
a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix
domain-containing protein 3 and 6 and DnaJC11. FEBS Lett. 581: 3542-3549,
2007.
*FIELD* CN
Patricia A. Hartz - updated: 2/7/2014
*FIELD* CD
Patricia A. Hartz: 5/15/2008
*FIELD* ED
mgross: 02/12/2014
mcolton: 2/7/2014
mgross: 5/15/2008
*RECORD*
*FIELD* NO
612058
*FIELD* TI
*612058 SORTING AND ASSEMBLY MACHINERY COMPONENT 50, S. CEREVISIAE, HOMOLOG
OF; SAMM50
read more;;SAM50
*FIELD* TX
DESCRIPTION
SAMM50 is a component of the sorting and assembly machinery (SAM)
complex of the outer mitochondrial membrane. The SAM complex has a role
in integrating beta-barrel proteins into the outer mitochondrial
membrane (Humphries et al., 2005).
GENE FUNCTION
Humphries et al. (2005) found that continued expression of
fluorescence-tagged human SAM50 in COS-7 cells impaired mitochondrial
morphology and shortened cellular life span, indicating that the fusion
protein was toxic. SAM50 was associated with a 200-kD protein complex
that was distinct from the 380-kD translocase of the outer mitochondrial
membrane (TOM) complex. RNA interference against SAM50 in human
embryonic kidney cells reduced assembly of TOM40 (TOMM40; 608061), an
essential component of the TOM complex involved in translocation and
sorting of proteins into mitochondria.
Using a monoclonal antibody directed against the mitochondrial inner
membrane protein mitofilin (IMMT; 600378), followed by SDS-PAGE and mass
spectrometry, Xie et al. (2007) identified a protein complex in human
heart mitochondria that, in addition to mitofilin, included SAMM50,
metaxin-1 (MTX1; 600605), metaxin-2 (MTX2; 608555), CHCHD3 (613748),
CHCHD6 (615634), and DNAJC11 (614827).
MAPPING
Hartz (2014) mapped the SAMM50 gene to chromosome 22q13.31 based on an
alignment of the SAMM50 sequence (GenBank GENBANK AF151809) with the
genomic sequence (GRCh37).
*FIELD* RF
1. Hartz, P. A.: Personal Communication. Baltimore, Md. 2/7/2014.
2. Humphries, A. D.; Streimann, I. C.; Stojanovski, D.; Johnston,
A. J.; Yano, M.; Hoogenraad, N. J.; Ryan, M. T.: Dissection of the
mitochondrial import and assembly pathway for human Tom40. J. Biol.
Chem. 280: 11535-11543, 2005.
3. Xie, J.; Marusich, M. F.; Souda, P.; Whitelegge, J.; Capaldi, R.
A.: The mitochondrial inner membrane protein mitofilin exists as
a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix
domain-containing protein 3 and 6 and DnaJC11. FEBS Lett. 581: 3542-3549,
2007.
*FIELD* CN
Patricia A. Hartz - updated: 2/7/2014
*FIELD* CD
Patricia A. Hartz: 5/15/2008
*FIELD* ED
mgross: 02/12/2014
mcolton: 2/7/2014
mgross: 5/15/2008