ATPAF1 Gene
protein-coding GIFtS: 49
GCID: GC01M047098
|
|
ATP synthase mitochondrial F1 complex assembly factor 1
| |
Aliases for ATPAF1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| ATP Synthase Mitochondrial F1 Complex Assembly Factor 11 2 | | ATP11p2 | | ATP111 2 3 | | Homolog Of Yeast ATP112 | | Atp11p1 | | ATP11 Homolog3 | | FLJ223511 | | |
Export aliases for ATPAF1 gene to outside databasesPrevious GC identifers: GC01M046794 GC01M046055 GC01M046487 GC01M046470 GC01M046812 GC01M046870 GC01M045213 |
Summaries for ATPAF1 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 ATPAF1: This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein bindsspecifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomersduring enzyme assembly. Alternatively spliced transcript variants have been identified. (provided by RefSeq, Aug 2011) UniProtKB/Swiss-Prot: ATPF1_HUMAN, Q5TC12Function: May play an essential role for the assembly of the mitochondrial F1-F0 complex (By similarity) Gene Wiki entry for ATPAF1
|
Genomic Views for ATPAF1 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_000001.10 NC_018912.1 NT_032977.9
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ATPAF1 gene promoter: POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) NF-kappaB POU3F2 YY1 Egr-2 POU2F1 POU2F1a HFH-1 RSRFC4 Other transcription factors
Search SABiosciences Chromatin IP Primers for ATPAF1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATPAF1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p33-p32.3 Ensembl cytogenetic band: 1p33 HGNC cytogenetic band: 1p33-p32.3ATPAF1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M047098: view genomic region
(about GC identifiers)
Start:
|
47,098,409 bp from pter |
End:
|
47,139,539 bp from pter |
Size:
|
41,131 bases |
Orientation:
|
minus strand |
|
Proteins for ATPAF1 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: ATPF1_HUMAN, Q5TC12 (See
protein sequence)Recommended Name: ATP synthase mitochondrial F1 complex assembly factor 1 precursor Size: 328 amino acids; 36437 Da
Subunit: Interacts with ATP5B
Subcellular location: Mitochondrion (By similarity)
Secondary accessions: B1AQW7 B7Z7D6 B7Z7I6 Q9H6E3Alternative splicing: 3 isoforms: Q5TC12-1 Q5TC12-2 Q5TC12-3 Explore the universe of human proteins at neXtProt for ATPAF1: NX_Q5TC12
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q5TC12 ATPAF1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001036011.2 NP_001230657.1 NP_001243347.1 NP_073582.3 ENSEMBL proteins: ENSP00000460964 ENSP00000431258 ENSP00000436690 ENSP00000436267 ENSP00000330685 ENSP00000432771 ENSP00000435732 ENSP00000433437 ENSP00000361005 ENSP00000459167 ENSP00000443588 Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005739 | mitochondrion |
IEA | -- |
ATPAF1 for ontologies About GeneDecksing
ATPAF1 Antibody Products: Assay Products for ATPAF1: |
Protein
Domains / Families for ATPAF1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ATPAF1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q5TC12ProtoNet protein and cluster: Q5TC12 UniProtKB/Swiss-Prot: ATPF1_HUMAN, Q5TC12Similarity: Belongs to the ATP11 family |
Function for ATPAF1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: ATPF1_HUMAN, Q5TC12Function: May play an essential role for the assembly of the mitochondrial F1-F0 complex (By similarity)
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATPAF1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATPAF1 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): ATPAF1 (NM_022745) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
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In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATPAF1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
ATPAF1 for ontologies About GeneDecksing
|
Pathways & Interactions for ATPAF1 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:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATPAF1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/26 Interacting proteins for ATPAF1 (Q5TC122, 3 ENSP000003610054) via UniProtKB, MINT, STRING, and/or I2D (see all 26)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006461 | protein complex assembly |
IEA | -- |
ATPAF1 for ontologies About GeneDecksing
|
Drugs & Compounds for ATPAF1 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 ATPAF1 Search CenterWatch for drugs/clinical trials and news about ATPAF1 / ATPF1 
|
Transcripts for ATPAF1 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,
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 ATPAF1 gene (4 alternative transcripts): NM_001042546.2 NM_001243728.1 NM_001256418.1 NM_022745.4 Unigene Cluster for ATPAF1: ATP synthase mitochondrial F1 complex assembly factor 1 Hs.100874 [show with all ESTs]Unigene Representative Sequence: BC07173114 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000576409 ENST00000492233 ENST00000526821 ENST00000529214 ENST00000329231 ENST00000534216 ENST00000532925 ENST00000474020 ENST00000487193 ENST00000525633 ENST00000460928 ENST00000371937(uc010omg.2 uc001cqh.3) ENST00000574428(uc001cqi.3) ENST00000542495(uc009vyk.3)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATPAF1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATPAF1 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): ATPAF1 (NM_022745) | |  | DNA2.0 Custom Codon Optimized Gene
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Additional cDNA sequence: AF111705.1 AK026004.1 AK296360.1 AK301874.1 AK302090.1 AK310338.1 AK311271.1 BC008498.1 BC018781.1 BC071731.1 12 DOTS entries: DT.95315462 DT.91762163 DT.95315469 DT.100800542 DT.95350987 DT.40198335 DT.100029053 DT.91762152 DT.100800543 DT.121329745 DT.40107951 DT.91848685 24/722 AceView cDNA sequences (see all 722): BM785012 H15451 AA001638 BU684107 CA416295 BQ014827 AU132961 AF111705 BM313450 BM981674 AW166981 BE081142 AA255740 BM661611 AA680159 BQ581691 AI470453 CA435345 CR606100 AI523115 CR601689 AL120413 BM994008 AI128449 GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for ATPAF1 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | |
| SP1: | |   | |   | |   | |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | - |   | |   | |   | |   | |   | - |   | - |   | - |   | |   | |   | |
| SP3: | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for ATPAF1
|
Expression for ATPAF1 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
| ATPAF1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: CACCAGTCAG
About this image See ATPAF1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ATPAF1
SOURCE GeneReport for Unigene cluster: Hs.100874 UniProtKB/Swiss-Prot: ATPF1_HUMAN, Q5TC12Tissue specificity: Weakly expressed in muscle SABiosciences Custom PCR Arrays for ATPAF1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATPAF1 Browse OriGene validated miRNA SYBR primer pairs
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| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATPAF1 |
Orthologs for ATPAF1 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 ATPAF1 gene from 8/26 species (see all 26) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
mouse (Mus musculus) |
Mammalia |
Atpaf11 , 5 |
ATP synthase mitochondrial F1 complex assembly factor more1, 5 |
88.7(n)1 89.08(a)1 |
  |
4 (53.06 cM)5 2306491 NM_181040.41 NP_851383.21 1157848125 |
chicken (Gallus gallus) |
Aves |
ATPAF11 |
ATP synthase mitochondrial F1 complex assembly factor more |
69.98(n) 69.52(a) |
  |
424616 XM_422453.2 XP_422453.1 |
lizard (Anolis carolinensis) |
Reptilia |
ATPAF16 |
-- |
59(a) |
1 ↔ 1 |
GL343249.1(2086836-2102176) |
tropical clawed frog (Xenopus tropicalis) |
Amphibia |
Str.131922 |
Transcribed sequence with weak similarity to protein more |
71.45(n) |
  |
CF590407.1 |
zebrafish (Danio rerio) |
Actinopterygii |
idibd11362 |
idibd1136 |
72.04(n) |
  |
338110 CK362292.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
CG103401 |
CG10340 |
47.7(n) 35.34(a) |
  |
42020 NM_142308.1 NP_650565.2 |
thale cress (Arabidopsis thaliana) |
eudicotyledons |
AT2G340506 |
ATP synthase mitochondrial F1 complex assembly fac... |
25(a) |
1 ↔ 1 |
2(14382683-14384279) |
rice (Oryza sativa) |
Liliopsida |
-- |
ATP11 protein, expressed |
22(a) |
1 ↔ 1 |
2(12335370-12338628) |
ENSEMBL Gene Tree for ATPAF1 (if available) TreeFam Gene Tree for ATPAF1 (if available)  |
Paralogs for ATPAF1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for ATPAF1 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 1 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for ATPAF1 (47098409 - 47139539 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for ATPAF1 1 Indel: 58391  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATPAF1 |
|
Disorders
/ Diseases for ATPAF1 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
|
ATPAF1 for disorders About GeneDecksing
OMIM gene information: 608917
OMIM disorders: --
1 disease for ATPAF1: About MalaCardsasthma Human Genome Epidemiology (HuGE) Navigator: ATPAF1 (2 documents) Export disorders for ATPAF1 gene to outside databases
|
Publications for ATPAF1 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 ATPAF1 gene, integrated from 9 sources (see all 15): (articles sorted by number of sources associating them with ATPAF1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria. (PubMed id 11410595)1, 2, 3 Wang Z.-G.... Ackerman S.H. (2001)
- Differential expression of ATPAF1 and ATPAF2 genes encoding F(1)- ATPase assembly proteins in mouse tissues. (PubMed id 12965202)1, 2 Pickova A.... Houstek J. (2003)
- Identification of ATPAF1 as a novel candidate gene fo r asthma in children. (PubMed id 21696813)1 Schauberger E.M....Wills-Karp M. (2011)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- OGFOD1, a member of the 2-oxoglutarate and iron depen dent dioxygenase family, functions in ischemic signaling. (PubMed id 20579638)1 Saito K....Matsushita M. (2010)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
|
External Searches for ATPAF1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ATPAF1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ATPAF1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ATPAF1 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 ATPAF1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ATPAF1 gene: Search GeneIP for patents involving ATPAF1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for ATPAF1 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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, 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 About This Section
|
 | |
 | |
 |
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| |
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 |
 |
 | | ATPAF1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATPAF1 |
|  |  |  | | | ThermoFisher Antibodies for ATPAF1 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATPAF1 |
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