NDUFAF1 Gene
protein-coding GIFtS: 51
GCID: GC15M041681
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|
NADH dehydrogenase (ubiquinone) complex I, assembly factor...
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Aliases
for NDUFAF1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 11 2 | | Complex I Intermediate-Associated Protein 30, Mitochondrial2 | | CIA301 2 3 5 | | NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, Assembly Factor 12 | | CGI652 5 | | NADH-Ubiquinone Oxidoreductase 1 Alpha Subcomplex, Assembly Factor 12 | | CGI-651 | | NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Assembly Factor 13 |
Export aliases for NDUFAF1 gene to outside databasesPrevious GC identifers: GC15M039395 GC15M039466 GC15M018531 |
Summaries
for NDUFAF1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for NDUFAF1:
This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes thetransfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain,resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required forassembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternativelyspliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long armof chromosome 19. (provided by RefSeq, Dec 2011)
UniProtKB/Swiss-Prot: CIA30_HUMAN, Q9Y375Function: Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex(complex I) (By similarity)
Gene Wiki entry for NDUFAF1
|
Genomic Views
for NDUFAF1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000015.9 NC_018926.1 NT_010194.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the NDUFAF1 gene promoter:
NF-1 HOXA3 p53 NF-kappaB SRY Nkx6-1 E2F-1 E2F NF-kappaB1
Other transcription factors
Search SABiosciences Chromatin IP Primers for NDUFAF1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFAF1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 15q11.2-q21.3 Ensembl cytogenetic band: 15q15.1 HGNC cytogenetic band: 15q11.2-q21.3NDUFAF1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 15 GeneLoc Exon Structure GeneLoc location for GC15M041681: view genomic region
(about GC identifiers)
Start:
|
41,679,551 bp from pter |
End:
|
41,694,717 bp from pter |
Size:
|
15,167 bases |
Orientation:
|
minus strand |
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Proteins
for NDUFAF1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CIA30_HUMAN, Q9Y375 (See
protein sequence)Recommended Name: Complex I intermediate-associated protein 30, mitochondrial precursor Size: 327 amino acids; 37764 Da
Subcellular location: Mitochondrion (Probable)
Caution: There is a putative pseudogene of CIA30 on chromosome 19 (19p12)
Secondary accessions: Q9BVZ5Explore the universe of human proteins at neXtProt for NDUFAF1: NX_Q9Y375
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y375
NDUFAF1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_057097.2
ENSEMBL proteins: ENSP00000260361 ENSP00000453027 ENSP00000453944 ENSP00000454083
Human Recombinant Protein Products for NDUFAF1:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
NDUFAF1 for ontologies About GeneDecksing
NDUFAF1 Antibody Products:
Assay Products for NDUFAF1: |
Protein
Domains /
Families
for NDUFAF1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NDUFAF1 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9Y375ProtoNet protein and cluster: Q9Y375 1 Blocks protein family: IPB013857 NADH:ubiquinone oxidoreductase complex I intermediate-associated protein 30
UniProtKB/Swiss-Prot: CIA30_HUMAN, Q9Y375Similarity: Belongs to the CIA30 family |
Function
for NDUFAF1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: CIA30_HUMAN, Q9Y375Function: Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex(complex I) (By similarity) Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
NDUFAF1 for ontologies About GeneDecksing
Animal Models:
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFAF1 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFAF1 |
|
Pathways & Interactions
for NDUFAF1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NDUFAF1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/62 Interacting proteins for NDUFAF1 (Q9Y3751, 2, 3 ENSP000002603614) via UniProtKB, MINT, STRING, and/or I2D (see all 62)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
NDUFAF1 for ontologies About GeneDecksing
|
Drugs & Compounds
for NDUFAF1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for NDUFAF1
1 HMDB Compound for NDUFAF1 About this table
| Compound | Synonyms |
CAS
# | PubMed Ids |
|---|
| NADH | 1,4-Dihydronicotinamide adenine dinucleotide (see all 17) | 58-68-4 | -- |
Search CenterWatch for drugs/clinical trials and news about NDUFAF1 / CIA30
|
Transcripts
for NDUFAF1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for NDUFAF1 gene: NM_016013.3 Unigene Cluster for NDUFAF1: NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 Hs.106529 [show with all ESTs]Unigene Representative Sequence: NR_0456204 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000260361(uc001znx.3) ENST00000559127(uc010bcf.3) ENST00000560978
ENST00000558719
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFAF1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFAF1 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: NDUFAF1 (NM_016013) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NDUFAF1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFAF1 |
Additional cDNA sequence: AF151823.1 AK309889.1 AK310983.1 BC000780.2 NR_045620.1 5 DOTS entries: DT.451641 DT.100776969 DT.95274754 DT.121032650 DT.95274752 24/116 AceView cDNA sequences (see all 116): AI701646 AI566877 BI828658 BQ049747 AI246173 AA384857 AW051746 NM_016013 AI911511 AI245488 CB145521 CR605439 CA308521 CR616483 BU619981 AI139880 AI831035 BM790903 BM974922 BC000780 CB151225 T36017 BQ006851 AA424175
GeneLoc Exon Structure
|
Expression
for NDUFAF1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| NDUFAF1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGCTTCCGCT
About this image
See NDUFAF1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NDUFAF1
SOURCE GeneReport for Unigene cluster: Hs.106529
UniProtKB/Swiss-Prot: CIA30_HUMAN, Q9Y375Tissue specificity: Ubiquitous
SABiosciences Custom PCR Arrays for NDUFAF1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NDUFAF1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NDUFAF1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NDUFAF1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NDUFAF1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFAF1 |
Orthologs
for NDUFAF1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for NDUFAF1 gene from 9/26 species (see all 26) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Ndufaf11 , 5 |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 less1, 5 |
82.36(n)1
77.98(a)1 |
|
2 (59.97 cM)5
697021 NM_027175.31 NP_081451.31
1196554465 |
chicken
(Gallus gallus) |
Aves |
NDUFAF11 |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 less |
62.88(n)
55.85(a) |
|
423214 XM_421138.3 XP_421138.1 |
lizard
(Anolis carolinensis) |
Reptilia |
NDUFAF16 |
-- |
54(a) |
1 ↔ 1 |
1(41731000-41737326) |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
Str.167292 |
Transcribed sequence with weak similarity to protein refNP_057097.1 (H.sapiens) CGI-65 protein; CIA30 [Homo sapiens] less |
74.76(n) |
|
BX745544.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
wufk33c032 |
Transcribed sequence with weak similarity to protein refNP_057097.1 (H.sapiens) CGI-65 protein; CIA30 [Homo sapiens] less |
70.81(n) |
|
57083275 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG75981 |
CG7598 |
53.06(n)
41.74(a) |
|
43503 NM_143461.3 NP_651718.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
nuaf-11 |
Protein NUAF-1 |
46.87(n)
36.55(a) |
|
183640 NM_073960.2 NP_506361.1 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT1G173506AT1G724206 |
putative complex I intermediate-associated protein...NADH:ubiquinone oxidoreductase intermediate-associ... |
22(a)22(a) |
many → 1many → 1 |
1(5941784-5944463) 1(27261194-27263669) |
rice
(Oryza sativa) |
Liliopsida |
-- |
Complex I intermediate-associated protein 30 domai... |
21(a) |
1 ↔ 1 |
1(30319702-30322949) |
ENSEMBL Gene Tree for NDUFAF1 (if available)
TreeFam Gene Tree for NDUFAF1 (if available) |
Paralogs
for NDUFAF1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for NDUFAF1 gene
NDUFAF1 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for NDUFAF1
PGOHUM00000234435
|
Genomic Variants
for NDUFAF1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 15 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for NDUFAF1 (41679551 - 41694717 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NDUFAF1: --
Human Gene Mutation Database (HGMD): NDUFAF1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NDUFAF1 |
|
Disorders
/ Diseases
for NDUFAF1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
NDUFAF1 for disorders About GeneDecksing
OMIM gene information: 606934
OMIM disorders: --
3  diseases for NDUFAF1: About MalaCardsmitochondrial complex i deficiency hypertrophic cardiomyopathy cardiomyopathy
Human Genome Epidemiology (HuGE) Navigator: NDUFAF1 (2 documents)
Export disorders for NDUFAF1 gene to outside databases
|
Publications
for NDUFAF1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for NDUFAF1 gene, integrated from 9 sources (see all 18):
(articles sorted by number of sources associating them with NDUFAF1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- CIA30 complex I assembly factor: a candidate for human complex I deficiency? (PubMed id 11935339)1, 2, 3 Janssen R.... van den Heuvel L. (2002)
- Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2, 3 Lai C.H....Lin W. (2000)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Human mitochondrial complex I assembly is mediated by NDUFAF1. (PubMed id 16218961)1, 9 Vogel R.O....Nijtmans L.G. (2005)
- Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients. (PubMed id 17383918)1, 9 Vogel R.O....Nijtmans L.G. (2007)
- Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. (PubMed id 17557076)1, 9 Dunning C.J....Ryan M.T. (2007)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Mutations in the mitochondrial complex I assembly fac tor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. (PubMed id 21931170)1 Fassone E....Rahman S. (2011)
- Assembly factors of human mitochondrial complex I and their defects in disease. (PubMed id 20552642)1 Mckenzie M. and Ryan M.T. (2010)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
|
External Searches for NDUFAF1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing NDUFAF1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing NDUFAF1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NDUFAF1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for NDUFAF1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for NDUFAF1 gene:
Search GeneIP for patents involving NDUFAF1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for NDUFAF1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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| |
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