Q7L592 (NDUF7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
NADH dehydrogenase [ubiquinone] complex I, assembly factor 7

Alternative name(s):
Protein midA homolog, mitochondrial

Gene names

Name:	NDUFAF7
Synonyms:	C2orf56
ORF Names:	PRO1853

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	441 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Ref.6
Subunit structure	Homodimer. Interacts with NDUFS2. Ref.6
Subcellular location	Mitochondrion Ref.6.
Sequence similarities	Belongs to the NDUFAF7 family.
Sequence caution	The sequence AAF71091.1 differs from that shown. Reason: Erroneous initiation. The sequence AAH12374.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transit peptide
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	mitochondrial respiratory chain complex I assembly Inferred from mutant phenotype Ref.6. Source: UniProtKB
Cellular_component	mitochondrion Inferred from direct assay Ref.6. Source: UniProtKB
Molecular_function	methyltransferase activity Non-traceable author statement Ref.6. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q7L592-1)

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: Q7L592-2)

The sequence of this isoform differs from the canonical sequence as follows:
     73-99: Missing.
     157-227: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 46	46	Mitochondrion Potential
	Chain	47 – 441	395	NADH dehydrogenase [ubiquinone] complex I, assembly factor 7		PRO_0000315672
Natural variations
	Alternative sequence	73 – 99	27	Missing in isoform 2.		VSP_030606
	Alternative sequence	157 – 227	71	Missing in isoform 2.		VSP_030607
	Natural variant	39	1	P → A. Corresponds to variant rs2714473 [ dbSNP | Ensembl ].		VAR_038274

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 9F3D667CCE470623	FASTA	441	49,238
	10 20 30 40 50 60 MSVLLRSGLG PLCAVARAAI PFIWRGKYFS SGNEPAENPV TPMLRHLMYK IKSTGPITVA 70 80 90 100 110 120 EYMKEVLTNP AKGYYVYRDM LGEKGDFITS PEISQIFGEL LGIWFISEWM ATGKSTAFQL 130 140 150 160 170 180 VELGPGRGTL VGDILRVFTQ LGSVLKNCDI SVHLVEVSQK LSEIQALTLT KEKVPLERNA 190 200 210 220 230 240 GSPVYMKGVT KSGIPISWYR DLHDVPKGYS FYLAHEFFDV LPVHKFQKTP QGWREVFVDI 250 260 270 280 290 300 DPQVSDKLRF VLAPSATPAE AFIQHDETRD HVEVCPDAGV IIEELSQRIA LTGGAALVAD 310 320 330 340 350 360 YGHDGTKTDT FRGFCDHKLH DVLIAPGTAD LTADVDFSYL RRMAQGKVAS LGPIKQHTFL 370 380 390 400 410 420 KNMGIDVRLK VLLDKSNEPS VRQQLLQGYD MLMNPKKMGE RFNFFALLPH QRLQGGRYQR 430 440 NARQSKPFAS VVAGFSELAW Q
	Isoform 2 [UniParc]. Checksum: AEFBDC33EAAA2AF6	FASTA	343	38,022
	10 20 30 40 50 60 MSVLLRSGLG PLCAVARAAI PFIWRGKYFS SGNEPAENPV TPMLRHLMYK IKSTGPITVA 70 80 90 100 110 120 EYMKEVLTNP AKLLGIWFIS EWMATGKSTA FQLVELGPGR GTLVGDILRV FTQLGSVLKN 130 140 150 160 170 180 CDISVHLVEK TPQGWREVFV DIDPQVSDKL RFVLAPSATP AEAFIQHDET RDHVEVCPDA 190 200 210 220 230 240 GVIIEELSQR IALTGGAALV ADYGHDGTKT DTFRGFCDHK LHDVLIAPGT ADLTADVDFS 250 260 270 280 290 300 YLRRMAQGKV ASLGPIKQHT FLKNMGIDVR LKVLLDKSNE PSVRQQLLQG YDMLMNPKKM 310 320 330 340 GERFNFFALL PHQRLQGGRY QRNARQSKPF ASVVAGFSEL AWQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Endometrial adenocarcinoma.
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	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].
[4]	"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). Tissue: Placenta.
[5]	"Functional prediction of the coding sequences of 121 new genes deduced by analysis of cDNA clones from human fetal liver." Zhang C., Yu Y., Zhang S., Wei H., Zhou G., Ouyang S., Luo L., Bi J., Liu M., He F. Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 208-441 (ISOFORM 1). Tissue: Fetal liver.
[6]	"MidA is a putative methyltransferase that is required for mitochondrial complex I function." Carilla-Latorre S., Gallardo M.E., Annesley S.J., Calvo-Garrido J., Grana O., Accari S.L., Smith P.K., Valencia A., Garesse R., Fisher P.R., Escalante R. J. Cell Sci. 123:1674-1683(2010) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, SUBUNIT, FUNCTION, INTERACTION WITH NDUFS2.
[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].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	BX538031 mRNA. Translation: CAD97976.1. AC007390 Genomic DNA. Translation: AAY14816.1. CH471053 Genomic DNA. Translation: EAX00402.1. BC004548 mRNA. Translation: AAH04548.2. BC012374 mRNA. Translation: AAH12374.2. Different initiation. AF116671 mRNA. Translation: AAF71091.1. Different initiation.
IPI	IPI00375685. IPI00412670.
RefSeq	NP_001077415.1. NM_001083946.1. NP_653337.1. NM_144736.4.
UniGene	Hs.433466.
3D structure databases
ProteinModelPortal	Q7L592.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q7L592. 3 interactions.
STRING	9606.ENSP00000002125.
PTM databases
PhosphoSite	Q7L592.
Polymorphism databases
DMDM	74749891.
Proteomic databases
PaxDb	Q7L592.
PRIDE	Q7L592.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000002125; ENSP00000002125; ENSG00000003509. ENST00000336237; ENSP00000337431; ENSG00000003509.
GeneID	55471.
KEGG	hsa:55471.
UCSC	uc002rqa.4. human. uc002rqc.4. human.
Organism-specific databases
CTD	55471.
GeneCards	GC02P037459.
HGNC	HGNC:28816. NDUFAF7.
HPA	HPA045217.
neXtProt	NX_Q7L592.
PharmGKB	PA162379266.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1565.
HOGENOM	HOG000077514.
HOVERGEN	HBG108135.
InParanoid	Q7L592.
OMA	ANEYFDV.
PhylomeDB	Q7L592.
Gene expression databases
ArrayExpress	Q7L592.
Bgee	Q7L592.
CleanEx	HS_C2orf56.
Genevestigator	Q7L592.
Family and domain databases
InterPro	IPR003788. MidA. [Graphical view]
PANTHER	PTHR12049. PTHR12049. 1 hit.
Pfam	PF02636. Methyltransf_28. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	C2orf56. human.
GenomeRNAi	55471.
NextBio	59858.

Entry information

Entry name

NDUF7_HUMAN

Accession

Primary (citable) accession number: Q7L592
Secondary accession number(s): Q7Z399, Q9P1G3

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
Last sequence update:	July 5, 2004
Last modified:	May 29, 2013
This is version 79 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.