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Protein

Complex I intermediate-associated protein 30, mitochondrial

Gene

NDUFAF1

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

Functioni

Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).By similarity

Caution

There is a putative pseudogene of CIA30 on chromosome 19 (19p12).Curated

GO - Molecular functioni

  • unfolded protein binding Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionChaperone

Enzyme and pathway databases

ReactomeiR-HSA-6799198 Complex I biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Complex I intermediate-associated protein 30, mitochondrial
Alternative name(s):
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1
Gene namesi
Name:NDUFAF1
Synonyms:CIA30
ORF Names:CGI-65
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000137806.8
HGNCiHGNC:18828 NDUFAF1
MIMi606934 gene
neXtProtiNX_Q9Y375

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi51103
MalaCardsiNDUFAF1
OpenTargetsiENSG00000137806
Orphaneti289527 Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
2609 Isolated complex I deficiency
PharmGKBiPA134934729

Chemistry databases

ChEMBLiCHEMBL2363065

Polymorphism and mutation databases

BioMutaiNDUFAF1
DMDMi21542405

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 24MitochondrionSequence analysisAdd BLAST24
ChainiPRO_000000546425 – 327Complex I intermediate-associated protein 30, mitochondrialAdd BLAST303

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei318PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y375
MaxQBiQ9Y375
PaxDbiQ9Y375
PeptideAtlasiQ9Y375
PRIDEiQ9Y375
ProteomicsDBi85980

PTM databases

iPTMnetiQ9Y375
PhosphoSitePlusiQ9Y375

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000137806 Expressed in 214 organ(s), highest expression level in testis
CleanExiHS_NDUFAF1
ExpressionAtlasiQ9Y375 baseline and differential
GenevisibleiQ9Y375 HS

Organism-specific databases

HPAiHPA039933
HPA040064

Interactioni

Subunit structurei

Part of the mitochondrial complex I assembly (MCIA) complex. The complex comprises at least TMEM126B, CIA30, ECSIT, and ACAD9 (By similarity). Interacts with ECSIT (PubMed:17344420). Interacts with ACAD9 (PubMed:20816094).By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119292, 44 interactors
CORUMiQ9Y375
IntActiQ9Y375, 38 interactors
MINTiQ9Y375
STRINGi9606.ENSP00000260361

Structurei

3D structure databases

ProteinModelPortaliQ9Y375
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the CIA30 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2435 Eukaryota
ENOG410XQPB LUCA
GeneTreeiENSGT00390000007200
HOGENOMiHOG000231763
HOVERGENiHBG050960
InParanoidiQ9Y375
KOiK18159
OMAiRPWMINI
OrthoDBiEOG091G0OY8
PhylomeDBiQ9Y375
TreeFamiTF314819

Family and domain databases

InterProiView protein in InterPro
IPR008979 Galactose-bd-like_sf
IPR013857 NADH-UbQ_OxRdtase-assoc_prot30
IPR039131 NDUFAF1
PANTHERiPTHR13194 PTHR13194, 1 hit
PfamiView protein in Pfam
PF08547 CIA30, 1 hit
SUPFAMiSSF49785 SSF49785, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q9Y375-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MALVHKLLRG TYFLRKFSKP TSALYPFLGI RFAEYSSSLQ KPVASPGKAS
60 70 80 90 100
SQRKTEGDLQ GDHQKEVALD ITSSEEKPDV SFDKAIRDEA IYHFRLLKDE
110 120 130 140 150
IVDHWRGPEG HPLHEVLLEQ AKVVWQFRGK EDLDKWTVTS DKTIGGRSEV
160 170 180 190 200
FLKMGKNNQS ALLYGTLSSE APQDGESTRS GYCAMISRIP RGAFERKMSY
210 220 230 240 250
DWSQFNTLYL RVRGDGRPWM VNIKEDTDFF QRTNQMYSYF MFTRGGPYWQ
260 270 280 290 300
EVKIPFSKFF FSNRGRIRDV QHELPLDKIS SIGFTLADKV DGPFFLEIDF
310 320
IGVFTDPAHT EEFAYENSPE LNPRLFK
Length:327
Mass (Da):37,764
Last modified:June 20, 2002 - v2
Checksum:i13D76605CC50DFF7
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YNN4H0YNN4_HUMAN
Complex I intermediate-associated p...
NDUFAF1
191Annotation score:
H0YNB7H0YNB7_HUMAN
Complex I intermediate-associated p...
NDUFAF1
209Annotation score:
H0YL22H0YL22_HUMAN
Complex I intermediate-associated p...
NDUFAF1
261Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti178T → S in AAD34060 (PubMed:10810093).Curated1
Sequence conflicti195E → K in AAD34060 (PubMed:10810093).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0135599R → H1 PublicationCorresponds to variant dbSNP:rs1899EnsemblClinVar.1
Natural variantiVAR_01356031R → L1 PublicationCorresponds to variant dbSNP:rs3204853EnsemblClinVar.1
Natural variantiVAR_013561176E → K1 PublicationCorresponds to variant dbSNP:rs35227875EnsemblClinVar.1
Natural variantiVAR_013562314A → G1 PublicationCorresponds to variant dbSNP:rs12900702EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF151823 mRNA Translation: AAD34060.1
BC000780 mRNA Translation: AAH00780.1
CCDSiCCDS10075.1
RefSeqiNP_057097.2, NM_016013.3
XP_006720618.1, XM_006720555.2
XP_011519960.1, XM_011521658.1
UniGeneiHs.106529

Genome annotation databases

EnsembliENST00000260361; ENSP00000260361; ENSG00000137806
GeneIDi51103
KEGGihsa:51103
UCSCiuc001znx.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF151823 mRNA Translation: AAD34060.1
BC000780 mRNA Translation: AAH00780.1
CCDSiCCDS10075.1
RefSeqiNP_057097.2, NM_016013.3
XP_006720618.1, XM_006720555.2
XP_011519960.1, XM_011521658.1
UniGeneiHs.106529

3D structure databases

ProteinModelPortaliQ9Y375
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119292, 44 interactors
CORUMiQ9Y375
IntActiQ9Y375, 38 interactors
MINTiQ9Y375
STRINGi9606.ENSP00000260361

Chemistry databases

ChEMBLiCHEMBL2363065

PTM databases

iPTMnetiQ9Y375
PhosphoSitePlusiQ9Y375

Polymorphism and mutation databases

BioMutaiNDUFAF1
DMDMi21542405

Proteomic databases

EPDiQ9Y375
MaxQBiQ9Y375
PaxDbiQ9Y375
PeptideAtlasiQ9Y375
PRIDEiQ9Y375
ProteomicsDBi85980

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260361; ENSP00000260361; ENSG00000137806
GeneIDi51103
KEGGihsa:51103
UCSCiuc001znx.4 human

Organism-specific databases

CTDi51103
DisGeNETi51103
EuPathDBiHostDB:ENSG00000137806.8
GeneCardsiNDUFAF1
HGNCiHGNC:18828 NDUFAF1
HPAiHPA039933
HPA040064
MalaCardsiNDUFAF1
MIMi606934 gene
neXtProtiNX_Q9Y375
OpenTargetsiENSG00000137806
Orphaneti289527 Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
2609 Isolated complex I deficiency
PharmGKBiPA134934729
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2435 Eukaryota
ENOG410XQPB LUCA
GeneTreeiENSGT00390000007200
HOGENOMiHOG000231763
HOVERGENiHBG050960
InParanoidiQ9Y375
KOiK18159
OMAiRPWMINI
OrthoDBiEOG091G0OY8
PhylomeDBiQ9Y375
TreeFamiTF314819

Enzyme and pathway databases

ReactomeiR-HSA-6799198 Complex I biogenesis

Miscellaneous databases

GeneWikiiNDUFAF1
GenomeRNAii51103
PROiPR:Q9Y375
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000137806 Expressed in 214 organ(s), highest expression level in testis
CleanExiHS_NDUFAF1
ExpressionAtlasiQ9Y375 baseline and differential
GenevisibleiQ9Y375 HS

Family and domain databases

InterProiView protein in InterPro
IPR008979 Galactose-bd-like_sf
IPR013857 NADH-UbQ_OxRdtase-assoc_prot30
IPR039131 NDUFAF1
PANTHERiPTHR13194 PTHR13194, 1 hit
PfamiView protein in Pfam
PF08547 CIA30, 1 hit
SUPFAMiSSF49785 SSF49785, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCIA30_HUMAN
AccessioniPrimary (citable) accession number: Q9Y375
Secondary accession number(s): Q9BVZ5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: June 20, 2002
Last modified: November 7, 2018
This is version 151 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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