Q9Y512 (SAM50_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sorting and assembly machinery component 50 homolog

Alternative name(s):
Transformation-related gene 3 protein
Short name=TRG-3

Gene names

Name:	SAMM50
ORF Names:	CGI-51, TRG3

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	469 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be required for the assembly pathway of mitochondrial outer membrane proteins By similarity.
Subunit structure	Interacts with CHCHD3. Ref.11
Subcellular location	Mitochondrion outer membrane; Multi-pass membrane protein. Cytoplasm By similarity Ref.9.
Domain	Its C-terminal part seems to contain many membrane-spanning sided beta-sheets, that have the potential to adopt a transmembrane beta-barrel type structure By similarity.
Sequence similarities	Belongs to the SAM50/omp85 family.

Ontologies

Keywords
Cellular component	Cytoplasm Membrane Mitochondrion Mitochondrion outer membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane beta strand
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	protein import into mitochondrial outer membrane Inferred from direct assay. Source: BHF-UCL
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW integral to membrane of membrane fraction Inferred from direct assay. Source: BHF-UCL mitochondrial sorting and assembly machinery complex Inferred from mutant phenotype. Source: BHF-UCL
Molecular function	protein binding Inferred from physical interaction Ref.11. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 469	469	Sorting and assembly machinery component 50 homolog		PRO_0000215939
Natural variations
	Natural variant	110	1	D → G. Ref.3 Corresponds to variant rs3761472 [ dbSNP | Ensembl ].		VAR_057338
	Natural variant	345	1	I → V. Ref.3 Ref.8 Corresponds to variant rs8418 [ dbSNP | Ensembl ].		VAR_013768
Experimental info
	Sequence conflict	10	1	E → G in BAD96377. Ref.5
	Sequence conflict	368 – 372	5	WAGGL → LGRRW in AAD34046. Ref.1
	Sequence conflict	371	1	Missing in AAH07830. Ref.8

Sequences

	Sequence		Length	Mass (Da)
	Q9Y512 [UniParc]. Last modified November 28, 2006. Version 3. Checksum: 4F686FB7ACB08DEF	FASTA	469	51,976
	10 20 30 40 50 60 MGTVHARSLE PLPSSGPDFG GLGEEAEFVE VEPEAKQEIL ENKDVVVQHV HFDGLGRTKD 70 80 90 100 110 120 DIIICEIGDV FKAKNLIEVM RKSHEAREKL LRLGIFRQVD VLIDTCQGDD ALPNGLDVTF 130 140 150 160 170 180 EVTELRRLTG SYNTMVGNNE GSMVLGLKLP NLLGRAEKVT FQFSYGTKET SYGLSFFKPR 190 200 210 220 230 240 PGNFERNFSV NLYKVTGQFP WSSLRETDRG MSAEYSFPIW KTSHTVKWEG VWRELGCLSR 250 260 270 280 290 300 TASFAVRKES GHSLKSSLSH AMVIDSRNSS ILPRRGALLK VNQELAGYTG GDVSFIKEDF 310 320 330 340 350 360 ELQLNKQLIF DSVFSASFWG GMLVPIGDKP SSIADRFYLG GPTSIRGFSM HSIGPQSEGD 370 380 390 400 410 420 YLGGEAYWAG GLHLYTPLPF RPGQGGFGEL FRTHFFLNAG NLCNLNYGEG PKAHIRKLAE 430 440 450 460 CIRWSYGAGI VLRLGNIARL ELNYCVPMGV QTGDRICDGV QFGAGIRFL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics." Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C. Genome Res. 10:703-713(2000) [PubMed: 10810093] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[2]	"Identification of human transforming gene 3." Kim J.W. Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS GLY-110 AND VAL-345. Tissue: Embryo.
[4]	"A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:R84.1-R84.11(2004) [PubMed: 15461802] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Cerebellum.
[6]	"The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H. Nature 402:489-495(1999) [PubMed: 10591208] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-345. Tissue: Lymph, Muscle and Skin.
[9]	"Progress in the definition of a reference human mitochondrial proteome." Lescuyer P., Strub J.-M., Luche S., Diemer H., Martinez P., Van Dorsselaer A., Lunardi J., Rabilloud T. Proteomics 3:157-167(2003) [PubMed: 12601808] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[10]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]	"ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function." Darshi M., Mendiola V.L., Mackey M.R., Murphy A.N., Koller A., Perkins G.A., Ellisman M.H., Taylor S.S. J. Biol. Chem. 286:2918-2932(2011) [PubMed: 21081504] [Abstract] Cited for: INTERACTION WITH CHCHD3.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF151809 mRNA. Translation: AAD34046.1. AY189688 mRNA. Translation: AAO85221.1. AK001087 mRNA. Translation: BAA91498.1. CR456483 mRNA. Translation: CAG30369.1. AK222657 mRNA. Translation: BAD96377.1. AL035398 Genomic DNA. Translation: CAB51401.1. CH471138 Genomic DNA. Translation: EAW73326.1. BC007830 mRNA. Translation: AAH07830.1. BC011681 mRNA. Translation: AAH11681.1. BC015200 mRNA. Translation: AAH15200.1.
IPI	IPI00412713.
RefSeq	NP_056195.3. NM_015380.4.
UniGene	Hs.505824.
3D structure databases
ProteinModelPortal	Q9Y512.
SMR	Q9Y512. Positions 45-129.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y512. 4 interactions.
MINT	MINT-1451034.
STRING	Q9Y512.
PTM databases
PhosphoSite	Q9Y512.
Polymorphism databases
DMDM	118572715.
Proteomic databases
PeptideAtlas	Q9Y512.
PRIDE	Q9Y512.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000350028; ENSP00000345445; ENSG00000100347.
GeneID	25813.
KEGG	hsa:25813.
Organism-specific databases
CTD	25813.
GeneCards	GC22P044342.
H-InvDB	HIX0022615.
HGNC	HGNC:24276. SAMM50.
HPA	HPA034537.
neXtProt	NX_Q9Y512.
PharmGKB	PA142670954.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000011355.
HOVERGEN	HBG054614.
OrthoDB	EOG4H72BD.
PhylomeDB	Q9Y512.
Gene expression databases
ArrayExpress	Q9Y512.
Bgee	Q9Y512.
CleanEx	HS_SAMM50.
Genevestigator	Q9Y512.
GermOnline	ENSG00000100347. Homo sapiens.
Family and domain databases
InterPro	IPR000184. Bac_surfAg_D15. [Graphical view]
Pfam	PF01103. Bac_surface_Ag. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	47039.

Entry information

Entry name

SAM50_HUMAN

Accession

Primary (citable) accession number: Q9Y512
Secondary accession number(s): Q53HC4 , Q56VW7, Q969Y9, Q96I46, Q9NW85, Q9UQM9

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 24, 2001
Last sequence update:	November 28, 2006
Last modified:	January 25, 2012
This is version 94 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.