Q5VT66 (MOSC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
MOSC domain-containing protein 1, mitochondrial
EC=1.-.-.-

Alternative name(s):
Mitochondrial amidoxime reducing component 1
Short name=mARC1
Moco sulfurase C-terminal domain-containing protein 1
Molybdenum cofactor sulfurase C-terminal domain-containing protein 1

Gene names

Name:	MARC1
Synonyms:	MOSC1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	337 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	As a component of an N-hydroxylated prodrug-converting complex required to reduce N-hydroxylated prodrugs, such as benzamidoxime. Also able to reduce N(omega)-hydroxy-L-arginine (NOHA) and N(omega)-hydroxy-N(delta)-methyl-L-arginine (NHAM) into L-arginine and N(delta)-methyl-L-arginine, respectively. Ref.6
Cofactor	Molybdenum. Ref.6
Subunit structure	Component of a complex composed of cytochrome b5, NADH-cytochrome b5 reductase and MOSC1.
Subcellular location	Mitochondrion outer membrane; Single-pass type II membrane protein. Note: Mitochondrial import is mediated by AA 1-40 and requires ATP. Ref.9
Sequence similarities	Contains 1 MOSC domain.
Biophysicochemical properties	Kinetic parameters: KM=180 µM for benzamidoxime Ref.8 KM=86 µM for NOHA KM=272 µM for NHAM Vmax=34 nmol/min/mg enzyme toward benzamidoxime Vmax=55 nmol/min/mg enzyme toward NOHA Vmax=43 nmol/min/mg enzyme toward NHAM
Sequence caution	The sequence BAB15333.1 differs from that shown. Reason: Frameshift at position 139. The sequence CAH72118.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Membrane Mitochondrion Mitochondrion outer membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Ligand	Molybdenum
Molecular function	Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	detoxification of nitrogen compound Non-traceable author statement PubMed 20861021. Source: UniProtKB nitrate metabolic process Inferred from direct assay PubMed 20861021. Source: UniProtKB
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial inner membrane Inferred from electronic annotation. Source: Compara mitochondrial outer membrane Inferred from electronic annotation. Source: UniProtKB-SubCell mitochondrion Inferred from sequence or structural similarity PubMed 20861021. Source: UniProtKB
Molecular_function	molybdenum ion binding Inferred from direct assay PubMed 20861021. Source: UniProtKB molybdopterin cofactor binding Inferred from direct assay PubMed 20861021. Source: UniProtKB nitrate reductase activity Inferred from direct assay PubMed 20861021. Source: UniProtKB pyridoxal phosphate binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5VT66-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q5VT66-2)

The sequence of this isoform differs from the canonical sequence as follows:
     251-251: E → EVTLCPFGSFLGFDFFFK

Note: No experimental confirmation available.

Isoform 3 (identifier: Q5VT66-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-102: Missing.
     251-251: E → EVTLCPFGSFLGFDFFFK

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 337	337	MOSC domain-containing protein 1, mitochondrial		PRO_0000273335
Regions
	Topological domain	1 – 20	20	Mitochondrial matrix Ref.9
	Transmembrane	21 – 40	20	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	41 – 337	297	Cytoplasmic Ref.9
	Domain	187 – 335	149	MOSC
Natural variations
	Alternative sequence	1 – 102	102	Missing in isoform 3.		VSP_022511
	Alternative sequence	251	1	E → EVTLCPFGSFLGFDFFFK in isoform 2 and isoform 3.		VSP_022512
	Natural variant	15	1	L → H. Ref.2		VAR_062273
	Natural variant	96	1	V → L. Ref.2 Corresponds to variant rs12023067 [ dbSNP | Ensembl ].		VAR_056941
	Natural variant	165	1	T → A. Ref.1 Ref.2 Ref.4 Ref.5 Corresponds to variant rs2642438 [ dbSNP | Ensembl ].		VAR_030129
	Natural variant	187	1	M → K. Ref.5 Corresponds to variant rs17850677 [ dbSNP | Ensembl ].		VAR_030130
	Natural variant	246	1	C → S. Ref.2 Corresponds to variant rs3738178 [ dbSNP | Ensembl ].		VAR_030131
	Natural variant	247	1	D → H. Ref.2		VAR_062274
	Natural variant	268	1	M → I. Corresponds to variant rs2642419 [ dbSNP | Ensembl ].		VAR_030132

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 7, 2004. Version 1. Checksum: F983AB08F3D646C4	FASTA	337	37,499
	10 20 30 40 50 60 MGAAGSSALA RFVLLAQSRP GWLGVAALGL TAVALGAVAW RRAWPTRRRR LLQQVGTVAQ 70 80 90 100 110 120 LWIYPVKSCK GVPVSEAECT AMGLRSGNLR DRFWLVINQE GNMVTARQEP RLVLISLTCD 130 140 150 160 170 180 GDTLTLSAAY TKDLLLPIKT PTTNAVHKCR VHGLEIEGRD CGEATAQWIT SFLKSQPYRL 190 200 210 220 230 240 VHFEPHMRPR RPHQIADLFR PKDQIAYSDT SPFLILSEAS LADLNSRLEK KVKATNFRPN 250 260 270 280 290 300 IVISGCDVYA EDSWDELLIG DVELKRVMAC SRCILTTVDP DTGVMSRKEP LETLKSYRQC 310 320 330 DPSERKLYGK SPLFGQYFVL ENPGTIKVGD PVYLLGQ
	Isoform 2 [UniParc]. Checksum: CC368AD4B543AD51	FASTA	354	39,454
	10 20 30 40 50 60 MGAAGSSALA RFVLLAQSRP GWLGVAALGL TAVALGAVAW RRAWPTRRRR LLQQVGTVAQ 70 80 90 100 110 120 LWIYPVKSCK GVPVSEAECT AMGLRSGNLR DRFWLVINQE GNMVTARQEP RLVLISLTCD 130 140 150 160 170 180 GDTLTLSAAY TKDLLLPIKT PTTNAVHKCR VHGLEIEGRD CGEATAQWIT SFLKSQPYRL 190 200 210 220 230 240 VHFEPHMRPR RPHQIADLFR PKDQIAYSDT SPFLILSEAS LADLNSRLEK KVKATNFRPN 250 260 270 280 290 300 IVISGCDVYA EVTLCPFGSF LGFDFFFKDS WDELLIGDVE LKRVMACSRC ILTTVDPDTG 310 320 330 340 350 VMSRKEPLET LKSYRQCDPS ERKLYGKSPL FGQYFVLENP GTIKVGDPVY LLGQ
	Isoform 3 [UniParc]. Checksum: 0FEF88317AF6C9D2	FASTA	252	28,439
	10 20 30 40 50 60 MVTARQEPRL VLISLTCDGD TLTLSAAYTK DLLLPIKTPT TNAVHKCRVH GLEIEGRDCG 70 80 90 100 110 120 EATAQWITSF LKSQPYRLVH FEPHMRPRRP HQIADLFRPK DQIAYSDTSP FLILSEASLA 130 140 150 160 170 180 DLNSRLEKKV KATNFRPNIV ISGCDVYAEV TLCPFGSFLG FDFFFKDSWD ELLIGDVELK 190 200 210 220 230 240 RVMACSRCIL TTVDPDTGVM SRKEPLETLK SYRQCDPSER KLYGKSPLFG QYFVLENPGT 250 IKVGDPVYLL GQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT ALA-165. Tissue: Adrenal gland and Kidney.
[2]	NIEHS SNPs program Submitted (MAR-2008) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS HIS-15; LEU-96; ALA-165; SER-246 AND HIS-247.
[3]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORMS 1 AND 2).
[4]	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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-165.
[5]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ALA-165 AND LYS-187. Tissue: Eye.
[6]	"The fourth molybdenum containing enzyme mARC: cloning and involvement in the activation of N-hydroxylated prodrugs." Gruenewald S., Wahl B., Bittner F., Hungeling H., Kanzow S., Kotthaus J., Schwering U., Mendel R.R., Clement B. J. Med. Chem. 51:8173-8177(2008) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, COFACTOR.
[7]	"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] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]	"Reduction of N(omega)-hydroxy-L-arginine by the mitochondrial amidoxime reducing component (mARC)." Kotthaus J., Wahl B., Havemeyer A., Kotthaus J., Schade D., Garbe-Schonberg D., Mendel R., Bittner F., Clement B. Biochem. J. 433:383-391(2011) [PubMed] [Europe PMC] [Abstract] Cited for: BIOPHYSICOCHEMICAL PROPERTIES.
[9]	"The mitochondrial amidoxime-reducing component (mARC1) is a novel signal-anchored protein of the outer mitochondrial membrane." Klein J.M., Busch J.D., Potting C., Baker M.J., Langer T., Schwarz G. J. Biol. Chem. 287:42795-42803(2012) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, TOPOLOGY.
+	Additional computationally mapped references.

Web resources

NIEHS-SNPs

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK026043 mRNA. Translation: BAB15333.1. Frameshift. AK094105 mRNA. Translation: BAC04286.1. AK290812 mRNA. Translation: BAF83501.1. EU563849 Genomic DNA. Translation: ACB21046.1. AL606726, AL445423 Genomic DNA. Translation: CAH71881.1. AL445423 Genomic DNA. Translation: CAH72116.1. AL445423 Genomic DNA. Translation: CAH72118.1. Sequence problems. AL445423, AL606726 Genomic DNA. Translation: CAH72119.1. CH471100 Genomic DNA. Translation: EAW93291.1. BC010619 mRNA. Translation: AAH10619.1.
IPI	IPI00305258. IPI00549307. IPI00828198.
RefSeq	NP_073583.3. NM_022746.3.
UniGene	Hs.497816.
3D structure databases
ProteinModelPortal	Q5VT66.
SMR	Q5VT66. Positions 58-191.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000355877.
PTM databases
PhosphoSite	Q5VT66.
Polymorphism databases
DMDM	74746896.
Proteomic databases
PaxDb	Q5VT66.
PRIDE	Q5VT66.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000366910; ENSP00000355877; ENSG00000186205. ENST00000443880; ENSP00000409634; ENSG00000186205.
GeneID	64757.
KEGG	hsa:64757.
UCSC	uc001hms.3. human. uc001hmt.3. human.
Organism-specific databases
CTD	64757.
GeneCards	GC01P220961.
H-InvDB	HIX0001608.
HGNC	HGNC:26189. MARC1.
HPA	HPA028702.
MIM	614126. gene.
neXtProt	NX_Q5VT66.
PharmGKB	PA142671344.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG3217.
HOVERGEN	HBG081982.
InParanoid	Q5VT66.
OMA	RVPYSCR.
OrthoDB	EOG4M399B.
PhylomeDB	Q5VT66.
Gene expression databases
Bgee	Q5VT66.
CleanEx	HS_MOSC1.
Genevestigator	Q5VT66.
Family and domain databases
InterPro	IPR005302. MoCF_Sase_C. IPR005303. MOSC_N. IPR011037. Pyrv_Knase-like_insert_dom. [Graphical view]
Pfam	PF03473. MOSC. 1 hit. PF03476. MOSC_N. 1 hit. [Graphical view]
SUPFAM	SSF50800. PK_B_barrel_like. 1 hit.
PROSITE	PS51340. MOSC. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	64757.
NextBio	66731.
SOURCE	Search...

Entry information

Entry name

MOSC1_HUMAN

Accession

Primary (citable) accession number: Q5VT66
Secondary accession number(s): A8K447 , B2D078, Q5VVS9, Q5VVT0, Q5VVT1, Q8N9P5, Q96FN8, Q9H6C7

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2007
Last sequence update:	December 7, 2004
Last modified:	May 1, 2013
This is version 73 of the entry and version 1 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.