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Protein

Complex I intermediate-associated protein 30, mitochondrial

Gene

NDUFAF1

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

Functioni

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

GO - Molecular functioni

  • unfolded protein binding Source: UniProtKB

GO - Biological processi

  • mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
  • mitochondrial respiratory chain complex I assembly Source: Reactome
  • protein complex assembly Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Chaperone

Enzyme and pathway databases

BioCyciZFISH:HS06398-MONOMER.
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

HGNCiHGNC:18828. NDUFAF1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • mitochondrial inner membrane Source: Reactome
  • mitochondrial respiratory chain complex I Source: UniProtKB
Complete GO annotation...

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 NADH-CoQ reductase 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.

PTM databases

iPTMnetiQ9Y375.
PhosphoSitePlusiQ9Y375.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000137806.
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

  • unfolded protein binding Source: UniProtKB

Protein-protein interaction databases

BioGridi119292. 36 interactors.
IntActiQ9Y375. 24 interactors.
MINTiMINT-1438635.
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.
OMAiCAMISRI.
OrthoDBiEOG091G0OY8.
PhylomeDBiQ9Y375.
TreeFamiTF314819.

Family and domain databases

InterProiIPR008979. Galactose-bd-like.
IPR013857. NADH-UbQ_OxRdtase-assoc_prot30.
[Graphical view]
PfamiPF08547. CIA30. 1 hit.
[Graphical view]
SUPFAMiSSF49785. SSF49785. 1 hit.

Sequencei

Sequence statusi: Complete.

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

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

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 → H.1 PublicationCorresponds to variant rs1899dbSNPEnsembl.1
Natural variantiVAR_01356031R → L.1 PublicationCorresponds to variant rs3204853dbSNPEnsembl.1
Natural variantiVAR_013561176E → K.1 PublicationCorresponds to variant rs35227875dbSNPEnsembl.1
Natural variantiVAR_013562314A → G.1 PublicationCorresponds to variant rs12900702dbSNPEnsembl.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

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. 36 interactors.
IntActiQ9Y375. 24 interactors.
MINTiMINT-1438635.
STRINGi9606.ENSP00000260361.

Chemistry databases

ChEMBLiCHEMBL2363065.

PTM databases

iPTMnetiQ9Y375.
PhosphoSitePlusiQ9Y375.

Polymorphism and mutation databases

BioMutaiNDUFAF1.
DMDMi21542405.

Proteomic databases

EPDiQ9Y375.
MaxQBiQ9Y375.
PaxDbiQ9Y375.
PeptideAtlasiQ9Y375.
PRIDEiQ9Y375.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi51103.
DisGeNETi51103.
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 NADH-CoQ reductase deficiency.
PharmGKBiPA134934729.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:HS06398-MONOMER.
ReactomeiR-HSA-6799198. Complex I biogenesis.

Miscellaneous databases

GeneWikiiNDUFAF1.
GenomeRNAii51103.
PROiQ9Y375.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000137806.
CleanExiHS_NDUFAF1.
ExpressionAtlasiQ9Y375. baseline and differential.
GenevisibleiQ9Y375. HS.

Family and domain databases

InterProiIPR008979. Galactose-bd-like.
IPR013857. NADH-UbQ_OxRdtase-assoc_prot30.
[Graphical view]
PfamiPF08547. CIA30. 1 hit.
[Graphical view]
SUPFAMiSSF49785. SSF49785. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCIA30_HUMAN
AccessioniPrimary (citable) accession number: Q9Y375
Secondary accession number(s): Q9BVZ5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: June 20, 2002
Last modified: November 2, 2016
This is version 135 of the entry and version 2 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

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: 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

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.