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Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4

Gene

NDUFAF4

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

Functioni

Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion.3 Publications

GO - Biological processi

  • mitochondrial respiratory chain complex I assembly Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Calmodulin-binding

Enzyme and pathway databases

ReactomeiR-HSA-6799198. Complex I biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
Alternative name(s):
Hormone-regulated proliferation-associated protein of 20 kDa
Gene namesi
Name:NDUFAF4
Synonyms:C6orf66, HRPAP20
ORF Names:HSPC125, My013
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21034. NDUFAF4.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial inner membrane Source: Reactome
  • mitochondrial membrane Source: UniProtKB
  • mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex I deficiency (MT-C1D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:252010
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti65 – 651L → P in MT-C1D. 1 Publication
VAR_044329

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi73 – 731K → A: Reduces interaction with calmodulin. Does not promote MMP-9 secretion. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiNDUFAF4.
MIMi252010. phenotype.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA164723808.

Chemistry

ChEMBLiCHEMBL2363065.

Polymorphism and mutation databases

BioMutaiNDUFAF4.
DMDMi30912745.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemoved1 Publication
Chaini2 – 175174NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4PRO_0000220988Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi2 – 21N-myristoyl glycine1 Publication

Post-translational modificationi

Phosphorylated on serine. Prolactin stimulate serine phosphorylation (By similarity).By similarity

Keywords - PTMi

Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

EPDiQ9P032.
MaxQBiQ9P032.
PaxDbiQ9P032.
PRIDEiQ9P032.
TopDownProteomicsiQ9P032.

PTM databases

iPTMnetiQ9P032.
PhosphoSiteiQ9P032.

Expressioni

Inductioni

Expression is low in quiescent cells and is induced in exponentially proliferating cultures. Expression is also induced when prolactin is added to stationary cells. Induced by dietary differentiating agents such as butyrate and retinoic acid.1 Publication

Gene expression databases

BgeeiQ9P032.
CleanExiHS_C6orf66.
GenevisibleiQ9P032. HS.

Organism-specific databases

HPAiHPA046560.

Interactioni

Subunit structurei

Binds calmodulin. Interacts with NDUFAF3.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NDUFAF3Q9BU61-25EBI-2606839,EBI-10298649

Protein-protein interaction databases

BioGridi118848. 14 interactions.
IntActiQ9P032. 6 interactions.
STRINGi9606.ENSP00000358272.

Structurei

3D structure databases

ProteinModelPortaliQ9P032.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the NDUFAF4 family.Curated

Phylogenomic databases

eggNOGiKOG4481. Eukaryota.
ENOG4111W8K. LUCA.
GeneTreeiENSGT00390000001627.
HOGENOMiHOG000231584.
InParanoidiQ9P032.
KOiK18161.
OMAiKFINDHQ.
OrthoDBiEOG7FBRKN.
PhylomeDBiQ9P032.
TreeFamiTF323532.

Family and domain databases

InterProiIPR009622. NDUFAF4.
[Graphical view]
PANTHERiPTHR13338. PTHR13338. 1 hit.
PfamiPF06784. UPF0240. 1 hit.
[Graphical view]
ProDomiPD339506. UPF0240. 1 hit.
[Graphical view] [Entries sharing at least one domain]

Sequencei

Sequence statusi: Complete.

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

Q9P032-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGALVIRGIR NFNLENRAER EISKMKPSVA PRHPSTNSLL REQISLYPEV
60 70 80 90 100
KGEIARKDEK LLSFLKDVYV DSKDPVSSLQ VKAAETCQEP KEFRLPKDHH
110 120 130 140 150
FDMINIKSIP KGKISIVEAL TLLNNHKLFP ETWTAEKIMQ EYQLEQKDVN
160 170
SLLKYFVTFE VEIFPPEDKK AIRSK
Length:175
Mass (Da):20,266
Last modified:October 1, 2000 - v1
Checksum:iB6445B0B4AA905D0
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti65 – 651L → P in MT-C1D. 1 Publication
VAR_044329

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF161474 mRNA. Translation: AAF29089.1.
AF060508 mRNA. Translation: AAG43126.1.
AK311850 mRNA. Translation: BAG34792.1.
AL159985 Genomic DNA. Translation: CAC38368.1.
CH471051 Genomic DNA. Translation: EAW48501.1.
BC039464 mRNA. Translation: AAH39464.1.
CCDSiCCDS5037.1.
RefSeqiNP_054884.1. NM_014165.3.
UniGeneiHs.512144.

Genome annotation databases

EnsembliENST00000316149; ENSP00000358272; ENSG00000123545.
GeneIDi29078.
KEGGihsa:29078.
UCSCiuc003pow.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF161474 mRNA. Translation: AAF29089.1.
AF060508 mRNA. Translation: AAG43126.1.
AK311850 mRNA. Translation: BAG34792.1.
AL159985 Genomic DNA. Translation: CAC38368.1.
CH471051 Genomic DNA. Translation: EAW48501.1.
BC039464 mRNA. Translation: AAH39464.1.
CCDSiCCDS5037.1.
RefSeqiNP_054884.1. NM_014165.3.
UniGeneiHs.512144.

3D structure databases

ProteinModelPortaliQ9P032.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118848. 14 interactions.
IntActiQ9P032. 6 interactions.
STRINGi9606.ENSP00000358272.

Chemistry

ChEMBLiCHEMBL2363065.

PTM databases

iPTMnetiQ9P032.
PhosphoSiteiQ9P032.

Polymorphism and mutation databases

BioMutaiNDUFAF4.
DMDMi30912745.

Proteomic databases

EPDiQ9P032.
MaxQBiQ9P032.
PaxDbiQ9P032.
PRIDEiQ9P032.
TopDownProteomicsiQ9P032.

Protocols and materials databases

DNASUi29078.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316149; ENSP00000358272; ENSG00000123545.
GeneIDi29078.
KEGGihsa:29078.
UCSCiuc003pow.4. human.

Organism-specific databases

CTDi29078.
GeneCardsiNDUFAF4.
HGNCiHGNC:21034. NDUFAF4.
HPAiHPA046560.
MalaCardsiNDUFAF4.
MIMi252010. phenotype.
611776. gene.
neXtProtiNX_Q9P032.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA164723808.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4481. Eukaryota.
ENOG4111W8K. LUCA.
GeneTreeiENSGT00390000001627.
HOGENOMiHOG000231584.
InParanoidiQ9P032.
KOiK18161.
OMAiKFINDHQ.
OrthoDBiEOG7FBRKN.
PhylomeDBiQ9P032.
TreeFamiTF323532.

Enzyme and pathway databases

ReactomeiR-HSA-6799198. Complex I biogenesis.

Miscellaneous databases

ChiTaRSiNDUFAF4. human.
GenomeRNAii29078.
PROiQ9P032.
SOURCEiSearch...

Gene expression databases

BgeeiQ9P032.
CleanExiHS_C6orf66.
GenevisibleiQ9P032. HS.

Family and domain databases

InterProiIPR009622. NDUFAF4.
[Graphical view]
PANTHERiPTHR13338. PTHR13338. 1 hit.
PfamiPF06784. UPF0240. 1 hit.
[Graphical view]
ProDomiPD339506. UPF0240. 1 hit.
[Graphical view] [Entries sharing at least one domain]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
    Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
    , Gu J., Chen S.-J., Chen Z.
    Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Umbilical cord blood.
  2. Mao Y.M., Xie Y., Lin Q., Li Y., Dai J.L., Ying K.
    Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Fetal brain.
  3. "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].
    Tissue: Hippocampus.
  4. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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].
    Tissue: Bone.
  7. "Identification of HRPAP20: a novel phosphoprotein that enhances growth and survival in hormone-responsive tumor cells."
    Karp C.M., Pan H., Zhang M., Buckley D.J., Schuler L.A., Buckley A.R.
    Cancer Res. 64:1016-1025(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INDUCTION.
  8. "HRPAP20: a novel calmodulin-binding protein that increases breast cancer cell invasion."
    Karp C.M., Shukla M.N., Buckley D.J., Buckley A.R.
    Oncogene 26:1780-1788(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH CALMODULIN, MUTAGENESIS OF LYS-73.
  9. Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT MT-C1D PRO-65.
  10. "Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease."
    Saada A., Vogel R.O., Hoefs S.J., van den Brand M.A., Wessels H.J., Willems P.H., Venselaar H., Shaag A., Barghuti F., Reish O., Shohat M., Huynen M.A., Smeitink J.A.M., van den Heuvel L.P., Nijtmans L.G.
    Am. J. Hum. Genet. 84:718-727(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NDUFAF3.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "Global profiling of co- and post-translationally N-myristoylated proteomes in human cells."
    Thinon E., Serwa R.A., Broncel M., Brannigan J.A., Brassat U., Wright M.H., Heal W.P., Wilkinson A.J., Mann D.J., Tate E.W.
    Nat. Commun. 5:4919-4919(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: MYRISTOYLATION AT GLY-2, CLEAVAGE OF INITIATOR METHIONINE, IDENTIFICATION BY MASS SPECTROMETRY.
  13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiNDUF4_HUMAN
AccessioniPrimary (citable) accession number: Q9P032
Secondary accession number(s): B2R4J5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2003
Last sequence update: October 1, 2000
Last modified: June 8, 2016
This is version 111 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 6
    Human chromosome 6: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.