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Q7L592 (NDUF7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 86. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length441 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 4646Mitochondrion Potential
Chain47 – 441395NADH dehydrogenase [ubiquinone] complex I, assembly factor 7
PRO_0000315672

Natural variations

Alternative sequence73 – 9927Missing in isoform 2.
VSP_030606
Alternative sequence157 – 22771Missing in isoform 2.
VSP_030607
Natural variant391P → A.
Corresponds to variant rs2714473 [ dbSNP | Ensembl ].
VAR_038274

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 9F3D667CCE470623

FASTA44149,238
        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 

« Hide

Isoform 2 [UniParc].

Checksum: AEFBDC33EAAA2AF6
Show »

FASTA34338,022

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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.
RefSeqNP_001077415.1. NM_001083946.1.
NP_653337.1. NM_144736.4.
UniGeneHs.433466.

3D structure databases

ProteinModelPortalQ7L592.
SMRQ7L592. Positions 40-437.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120676. 3 interactions.
IntActQ7L592. 3 interactions.
STRING9606.ENSP00000002125.

PTM databases

PhosphoSiteQ7L592.

Polymorphism databases

DMDM74749891.

Proteomic databases

PaxDbQ7L592.
PRIDEQ7L592.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000002125; ENSP00000002125; ENSG00000003509. [Q7L592-1]
ENST00000336237; ENSP00000337431; ENSG00000003509. [Q7L592-2]
GeneID55471.
KEGGhsa:55471.
UCSCuc002rqa.4. human. [Q7L592-1]
uc002rqc.4. human. [Q7L592-2]

Organism-specific databases

CTD55471.
GeneCardsGC02P037460.
HGNCHGNC:28816. NDUFAF7.
HPAHPA045217.
neXtProtNX_Q7L592.
PharmGKBPA162379266.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1565.
HOGENOMHOG000077514.
HOVERGENHBG108135.
InParanoidQ7L592.
OMAYYVYRDM.
PhylomeDBQ7L592.
TreeFamTF314312.

Gene expression databases

ArrayExpressQ7L592.
BgeeQ7L592.
CleanExHS_C2orf56.
GenevestigatorQ7L592.

Family and domain databases

InterProIPR003788. MidA.
[Graphical view]
PANTHERPTHR12049. PTHR12049. 1 hit.
PfamPF02636. Methyltransf_28. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSC2orf56. human.
GenomeRNAi55471.
NextBio59858.

Entry information

Entry nameNDUF7_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 86 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM