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Q7L592

- NDUF7_HUMAN

UniProt

Q7L592 - NDUF7_HUMAN

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Protein

NADH dehydrogenase [ubiquinone] complex I, assembly factor 7

Gene

NDUFAF7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).1 Publication

GO - Molecular functioni

  1. enzyme binding Source: UniProtKB
  2. methyltransferase activity Source: UniProtKB

GO - Biological processi

  1. methylation Source: GOC
  2. mitochondrial respiratory chain complex I assembly Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
NADH dehydrogenase [ubiquinone] complex I, assembly factor 7
Alternative name(s):
Protein midA homolog, mitochondrial
Gene namesi
Name:NDUFAF7
Synonyms:C2orf56
ORF Names:PRO1853
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:28816. NDUFAF7.

Subcellular locationi

Mitochondrion 1 Publication

GO - Cellular componenti

  1. extracellular space Source: UniProt
  2. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162379266.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4646MitochondrionSequence AnalysisAdd
BLAST
Chaini47 – 441395NADH dehydrogenase [ubiquinone] complex I, assembly factor 7PRO_0000315672Add
BLAST

Proteomic databases

MaxQBiQ7L592.
PaxDbiQ7L592.
PRIDEiQ7L592.

PTM databases

PhosphoSiteiQ7L592.

Expressioni

Gene expression databases

BgeeiQ7L592.
CleanExiHS_C2orf56.
ExpressionAtlasiQ7L592. baseline and differential.
GenevestigatoriQ7L592.

Organism-specific databases

HPAiHPA045217.

Interactioni

Subunit structurei

Homodimer. Interacts with NDUFS2.1 Publication

Protein-protein interaction databases

BioGridi120676. 8 interactions.
IntActiQ7L592. 4 interactions.
STRINGi9606.ENSP00000002125.

Structurei

3D structure databases

ProteinModelPortaliQ7L592.
SMRiQ7L592. Positions 51-385.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the NDUFAF7 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG1565.
GeneTreeiENSGT00390000001588.
HOGENOMiHOG000077514.
HOVERGENiHBG108135.
InParanoidiQ7L592.
KOiK18164.
OMAiYYVYRDM.
PhylomeDBiQ7L592.
TreeFamiTF314312.

Family and domain databases

InterProiIPR003788. MidA.
IPR029063. SAM-dependent_MTases-like.
[Graphical view]
PANTHERiPTHR12049. PTHR12049. 1 hit.
PfamiPF02636. Methyltransf_28. 1 hit.
[Graphical view]
SUPFAMiSSF53335. SSF53335. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q7L592-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MSVLLRSGLG PLCAVARAAI PFIWRGKYFS SGNEPAENPV TPMLRHLMYK
60 70 80 90 100
IKSTGPITVA EYMKEVLTNP AKGYYVYRDM LGEKGDFITS PEISQIFGEL
110 120 130 140 150
LGIWFISEWM ATGKSTAFQL VELGPGRGTL VGDILRVFTQ LGSVLKNCDI
160 170 180 190 200
SVHLVEVSQK LSEIQALTLT KEKVPLERNA GSPVYMKGVT KSGIPISWYR
210 220 230 240 250
DLHDVPKGYS FYLAHEFFDV LPVHKFQKTP QGWREVFVDI DPQVSDKLRF
260 270 280 290 300
VLAPSATPAE AFIQHDETRD HVEVCPDAGV IIEELSQRIA LTGGAALVAD
310 320 330 340 350
YGHDGTKTDT FRGFCDHKLH DVLIAPGTAD LTADVDFSYL RRMAQGKVAS
360 370 380 390 400
LGPIKQHTFL KNMGIDVRLK VLLDKSNEPS VRQQLLQGYD MLMNPKKMGE
410 420 430 440
RFNFFALLPH QRLQGGRYQR NARQSKPFAS VVAGFSELAW Q
Length:441
Mass (Da):49,238
Last modified:July 5, 2004 - v1
Checksum:i9F3D667CCE470623
GO
Isoform 2 (identifier: Q7L592-2) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:343
Mass (Da):38,022
Checksum:iAEFBDC33EAAA2AF6
GO

Sequence cautioni

The sequence AAF71091.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAH12374.2 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391P → A.
Corresponds to variant rs2714473 [ dbSNP | Ensembl ].
VAR_038274

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei73 – 9927Missing in isoform 2. 1 PublicationVSP_030606Add
BLAST
Alternative sequencei157 – 22771Missing in isoform 2. 1 PublicationVSP_030607Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS1788.1. [Q7L592-1]
CCDS42673.1. [Q7L592-2]
RefSeqiNP_001077415.1. NM_001083946.1. [Q7L592-2]
NP_653337.1. NM_144736.4. [Q7L592-1]
UniGeneiHs.433466.

Genome annotation databases

EnsembliENST00000002125; ENSP00000002125; ENSG00000003509. [Q7L592-1]
ENST00000336237; ENSP00000337431; ENSG00000003509. [Q7L592-2]
GeneIDi55471.
KEGGihsa:55471.
UCSCiuc002rqa.4. human. [Q7L592-1]
uc002rqc.4. human. [Q7L592-2]

Polymorphism databases

DMDMi74749891.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSi CCDS1788.1. [Q7L592-1 ]
CCDS42673.1. [Q7L592-2 ]
RefSeqi NP_001077415.1. NM_001083946.1. [Q7L592-2 ]
NP_653337.1. NM_144736.4. [Q7L592-1 ]
UniGenei Hs.433466.

3D structure databases

ProteinModelPortali Q7L592.
SMRi Q7L592. Positions 51-385.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120676. 8 interactions.
IntActi Q7L592. 4 interactions.
STRINGi 9606.ENSP00000002125.

PTM databases

PhosphoSitei Q7L592.

Polymorphism databases

DMDMi 74749891.

Proteomic databases

MaxQBi Q7L592.
PaxDbi Q7L592.
PRIDEi Q7L592.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000002125 ; ENSP00000002125 ; ENSG00000003509 . [Q7L592-1 ]
ENST00000336237 ; ENSP00000337431 ; ENSG00000003509 . [Q7L592-2 ]
GeneIDi 55471.
KEGGi hsa:55471.
UCSCi uc002rqa.4. human. [Q7L592-1 ]
uc002rqc.4. human. [Q7L592-2 ]

Organism-specific databases

CTDi 55471.
GeneCardsi GC02P037460.
HGNCi HGNC:28816. NDUFAF7.
HPAi HPA045217.
neXtProti NX_Q7L592.
PharmGKBi PA162379266.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1565.
GeneTreei ENSGT00390000001588.
HOGENOMi HOG000077514.
HOVERGENi HBG108135.
InParanoidi Q7L592.
KOi K18164.
OMAi YYVYRDM.
PhylomeDBi Q7L592.
TreeFami TF314312.

Miscellaneous databases

GenomeRNAii 55471.
NextBioi 59858.

Gene expression databases

Bgeei Q7L592.
CleanExi HS_C2orf56.
ExpressionAtlasi Q7L592. baseline and differential.
Genevestigatori Q7L592.

Family and domain databases

InterProi IPR003788. MidA.
IPR029063. SAM-dependent_MTases-like.
[Graphical view ]
PANTHERi PTHR12049. PTHR12049. 1 hit.
Pfami PF02636. Methyltransf_28. 1 hit.
[Graphical view ]
SUPFAMi SSF53335. SSF53335. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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. 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. Cited for: SUBCELLULAR LOCATION, SUBUNIT, FUNCTION, INTERACTION WITH NDUFS2.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiNDUF7_HUMAN
AccessioniPrimary (citable) accession number: Q7L592
Secondary accession number(s): Q7Z399, Q9P1G3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: July 5, 2004
Last modified: November 26, 2014
This is version 92 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3