Q330K2 (NDUF6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6

Alternative name(s):
Putative phytoene synthase

Gene names

Name:	NDUFAF6
Synonyms:	C8orf38

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	333 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 of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1. Ref.6 Ref.7
Subcellular location	Isoform 1: Mitochondrion inner membrane. Note: Peripherally localized on the matrix face of the mitochondrial inner membrane. Ref.7 Isoform 2: Cytoplasm. Nucleus Ref.7.
Involvement in disease	Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7
Sequence similarities	Belongs to the NDUFAF6 family.
Sequence caution	The sequence BAG60807.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence EAW91734.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Cytoplasm Membrane Mitochondrion Mitochondrion inner membrane Nucleus
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Domain	Transit peptide
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	biosynthetic process Inferred from electronic annotation. Source: InterPro mitochondrial respiratory chain complex I assembly Inferred from mutant phenotype Ref.7. Source: UniProtKB
Cellular_component	cytoplasm Inferred from direct assay Ref.7. Source: UniProtKB mitochondrial inner membrane Inferred from direct assay Ref.7. Source: UniProtKB nucleus Inferred from direct assay Ref.7. Source: UniProtKB
Molecular_function	transferase activity 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: Q330K2-1)

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: Q330K2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: MAASAHGSVW...GTDHYCLELL → MPISISHSSWLVQ

Isoform 3 (identifier: Q330K2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     100-120: VKDSVSEKTIGLMRMQFWKKT → AGLLLLLSCCTVCHWDLNTKHC
     121-333: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 44	44	Mitochondrion Potential
	Chain	45 – 333	289	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6		PRO_0000291772
Natural variations
	Alternative sequence	1 – 65	65	MAASA…CLELL → MPISISHSSWLVQ in isoform 2.		VSP_026230
	Alternative sequence	100 – 120	21	VKDSV…FWKKT → AGLLLLLSCCTVCHWDLNTK HC in isoform 3.		VSP_026231
	Alternative sequence	121 – 333	213	Missing in isoform 3.		VSP_026232
	Natural variant	99	1	Q → R in MT-C1D. Ref.6 Ref.7		VAR_047770

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 8, 2008. Version 2. Checksum: 1D3521A817F4B4BB	FASTA	333	38,176
	10 20 30 40 50 60 MAASAHGSVW GPLRLGIPGL CCRRPPLGLY ARMRRLPGPE VSGRSVAAAS GPGAWGTDHY 70 80 90 100 110 120 CLELLRKRDY EGYLCSLLLP AESRSSVFAL RAFNVELAQV KDSVSEKTIG LMRMQFWKKT 130 140 150 160 170 180 VEDIYCDNPP HQPVAIELWK AVKRHNLTKR WLMKIVDERE KNLDDKAYRN IKELENYAEN 190 200 210 220 230 240 TQSSLLYLTL EILGIKDLHA DHAASHIGKA QGIVTCLRAT PYHGSRRKVF LPMDICMLHG 250 260 270 280 290 300 VSQEDFLRRN QDKNVRDVIY DIASQAHLHL KHARSFHKTV PVKAFPAFLQ TVSLEDFLKK 310 320 330 IQRVDFDIFH PSLQQKNTLL PLYLYIQSWR KTY
	Isoform 2 [UniParc]. Checksum: 54EE09C910AE936B	FASTA	281	32,847
	10 20 30 40 50 60 MPISISHSSW LVQRKRDYEG YLCSLLLPAE SRSSVFALRA FNVELAQVKD SVSEKTIGLM 70 80 90 100 110 120 RMQFWKKTVE DIYCDNPPHQ PVAIELWKAV KRHNLTKRWL MKIVDEREKN LDDKAYRNIK 130 140 150 160 170 180 ELENYAENTQ SSLLYLTLEI LGIKDLHADH AASHIGKAQG IVTCLRATPY HGSRRKVFLP 190 200 210 220 230 240 MDICMLHGVS QEDFLRRNQD KNVRDVIYDI ASQAHLHLKH ARSFHKTVPV KAFPAFLQTV 250 260 270 280 SLEDFLKKIQ RVDFDIFHPS LQQKNTLLPL YLYIQSWRKT Y
	Isoform 3 [UniParc]. Checksum: 31887C9EDE668C41	FASTA	121	13,125
	10 20 30 40 50 60 MAASAHGSVW GPLRLGIPGL CCRRPPLGLY ARMRRLPGPE VSGRSVAAAS GPGAWGTDHY 70 80 90 100 110 120 CLELLRKRDY EGYLCSLLLP AESRSSVFAL RAFNVELAQA GLLLLLSCCT VCHWDLNTKH C

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of a novel putative phytoene synthase." Zheng H., Xie Y., Mao Y. Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[2]	"DNA sequence and analysis of human chromosome 8." Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S. Nature 439:331-335(2006) [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 (JUL-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 2). Tissue: Brain.
[5]	"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] OF 20-322 (ISOFORM 1).
[6]	"A mitochondrial protein compendium elucidates complex I disease biology." Pagliarini D.J., Calvo S.E., Chang B., Sheth S.A., Vafai S.B., Ong S.E., Walford G.A., Sugiana C., Boneh A., Chen W.K., Hill D.E., Vidal M., Evans J.G., Thorburn D.R., Carr S.A., Mootha V.K. Cell 134:112-123(2008) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, VARIANT MT-C1D ARG-99.
[7]	"Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1." McKenzie M., Tucker E.J., Compton A.G., Lazarou M., George C., Thorburn D.R., Ryan M.T. J. Mol. Biol. 414:413-426(2011) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, FUNCTION, CHARACTERIZATION OF VARIANT MT-C1D ARG-99.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY444560 mRNA. Translation: AAS68536.1. AC087752 Genomic DNA. No translation available. CH471060 Genomic DNA. Translation: EAW91734.1. Sequence problems. BC028166 mRNA. Translation: AAH28166.1. AK298631 mRNA. Translation: BAG60807.1. Different initiation.
IPI	IPI00847930. IPI00852983. IPI00889748.
RefSeq	NP_689629.2. NM_152416.3.
UniGene	Hs.729144.
3D structure databases
ProteinModelPortal	Q330K2.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000379430.
PTM databases
PhosphoSite	Q330K2.
Polymorphism databases
DMDM	182676420.
Proteomic databases
PaxDb	Q330K2.
PRIDE	Q330K2.
Protocols and materials databases
DNASU	137682.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000396111; ENSP00000379417; ENSG00000156170. ENST00000396113; ENSP00000379419; ENSG00000156170. ENST00000396124; ENSP00000379430; ENSG00000156170. ENST00000518258; ENSP00000428788; ENSG00000156170. ENST00000523337; ENSP00000429038; ENSG00000156170. ENST00000542894; ENSP00000444515; ENSG00000156170.
GeneID	137682.
KEGG	hsa:137682.
UCSC	uc003yhi.3. human. uc003yhj.3. human.
Organism-specific databases
CTD	137682.
GeneCards	GC08P095909.
HGNC	HGNC:28625. NDUFAF6.
HPA	HPA047148. HPA050545.
MIM	252010. phenotype. 612392. gene.
neXtProt	NX_Q330K2.
Orphanet	255241. Leigh syndrome with leukodystrophy.
PharmGKB	PA142672357.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1562.
HOGENOM	HOG000146031.
HOVERGEN	HBG080309.
InParanoid	Q330K2.
OMA	FDLYNDP.
Gene expression databases
ArrayExpress	Q330K2.
Bgee	Q330K2.
CleanEx	HS_C8orf38.
Genevestigator	Q330K2.
Family and domain databases
Gene3D	1.10.600.10. 1 hit.
InterPro	IPR002060. Squ/phyt_synthse. IPR008949. Terpenoid_synth. [Graphical view]
Pfam	PF00494. SQS_PSY. 1 hit. [Graphical view]
SUPFAM	SSF48576. Terpenoid_synth. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	137682.
NextBio	83659.
SOURCE	Search...

Entry information

Entry name

NDUF6_HUMAN

Accession

Primary (citable) accession number: Q330K2
Secondary accession number(s): A8MT28 , A8MWF0, B4DQ45, Q8N6U6

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 26, 2007
Last sequence update:	April 8, 2008
Last modified:	May 1, 2013
This is version 61 of the entry and version 2 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.