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Aliases for ATP5B Gene

Aliases for ATP5B Gene

  • ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Beta Polypeptide 2 3 5
  • EC 3.6.3.14 4 58
  • ATPSB 3 4
  • ATPMB 3 4
  • Mitochondrial ATP Synthetase, Beta Subunit 3
  • ATP Synthase Subunit Beta, Mitochondrial 3
  • Mitochondrial ATP Synthase Beta Subunit 3
  • Epididymis Secretory Protein Li 271 3
  • HEL-S-271 3
  • EC 3.6.3 58

External Ids for ATP5B Gene

Previous HGNC Symbols for ATP5B Gene

  • ATPSB

Previous GeneCards Identifiers for ATP5B Gene

  • GC12P057014
  • GC12M057256
  • GC12M056748
  • GC12M055318
  • GC12M057031
  • GC12M054071

Summaries for ATP5B Gene

Entrez Gene Summary for ATP5B Gene

  • This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP5B Gene

ATP5B (ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Beta Polypeptide) is a Protein Coding gene. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include transporter activity and transmembrane transporter activity.

UniProtKB/Swiss-Prot for ATP5B Gene

  • Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits.

Gene Wiki entry for ATP5B Gene

Additional gene information for ATP5B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP5B Gene

Genomics for ATP5B Gene

Regulatory Elements for ATP5B Gene

Enhancers for ATP5B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H056718 1.4 ENCODE dbSUPER 15.8 -76.5 -76491 8 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF610 GLIS1 NBN BAZ2A NEMP1 ZC3H10 DNAJC14 ENSG00000258317 SMARCC2 ANKRD52 STAT2 PRIM1 ATP5B
GH12H056748 1.3 Ensembl ENCODE 14.7 -104.9 -104892 4 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 SP3 MXD4 REST BAZ2A NEMP1 ATP5B MBD6 RN7SL809P TMEM198B RNU6-343P DNAJC14 CDK2 ZC3H10
GH12H056564 1.2 Ensembl ENCODE 9.9 +77.9 77859 7 HDAC1 ELF3 ARID4B BATF RFX5 RARA SCRT2 ATF7 RUNX3 IKZF2 RBMS2 GLS2 BAZ2A SPRYD4 APOF ATP5B SNORD59A SNORD59B NACA GC12P056589
GH12H056695 1 ENCODE dbSUPER 11.7 -49.7 -49675 1 HDGF TAL1 ZBTB40 FOSL1 ZNF766 MTA3 ZBTB20 SMARCE1 L3MBTL2 DPF2 BAZ2A ATP5B SNORD59A SNORD59B NACA PTGES3
GH12H056683 1.8 FANTOM5 ENCODE dbSUPER 6.2 -40.7 -40704 7 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC BAZ2A NEMP1 ZC3H10 ENSG00000258317 RN7SL809P DNAJC14 PYM1 RNU6-343P MBD6 STAT2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP5B on UCSC Golden Path with GeneCards custom track

Promoters for ATP5B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000052537 368 1801 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

Genomic Location for ATP5B Gene

Chromosome:
12
Start:
56,638,175 bp from pter
End:
56,646,068 bp from pter
Size:
7,894 bases
Orientation:
Minus strand

Genomic View for ATP5B Gene

Genes around ATP5B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5B Gene

Proteins for ATP5B Gene

  • Protein details for ATP5B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06576-ATPB_HUMAN
    Recommended name:
    ATP synthase subunit beta, mitochondrial
    Protein Accession:
    P06576
    Secondary Accessions:
    • A8K4X0
    • Q14283

    Protein attributes for ATP5B Gene

    Size:
    529 amino acids
    Molecular mass:
    56560 Da
    Quaternary structure:
    • F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits: a, b and c. Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68. Interacts with PPIF. Interacts with BCL2L1 isoform BCL-X(L); the interaction mediates the association of BCL2L1 isoform BCL-X(L) with the mitochondrial membrane F(1)F(0) ATP synthase and enhances neurons metabolic efficency. Interacts with CLN5 and PPT1.

neXtProt entry for ATP5B Gene

Selected DME Specific Peptides for ATP5B Gene

P06576:
  • TKKGSITSVQA
  • GYSVFAGVGERTREGND
  • VPLKETI
  • YVPADDLTDPAPATTFAHLDATTVLSR
  • ELSEEDK
  • EMIESGV
  • GERTREGND
  • TGIKVVDLL
  • VGYQPTL
  • FAHLDAT
  • DATTVLSR
  • ALVYGQMNEPPG
  • GLFGGAG
  • EVSALLGR
  • PAVDPLDSTS
  • AGVGERTREGNDLYHE
  • ELGIYPAVDPL
  • DELSEED
  • GIYPAVD
  • PSAVGYQ
  • VRTIAMD
  • IGAVVDV
  • KVVDLLAPY
  • QAGSEVS
  • DPAPATTF
  • LVTGIKVVDLLAPY
  • KVALVYGQM
  • SVFAGVGER
  • LTGLTVAE
  • EVAQHLG
  • RVALTGLT
  • ELINNVA
  • MGTMQERIT
  • GSITSVQA
  • TGIKVVDLLAPYA
  • VLLFIDNI
  • IDNIFRF
  • SALLGRIPSAVGYQPTL
  • IHAEAPEF
  • PYAKGGKIGLFGGAGVGKTVLI
  • TLGRIMNV
  • VLEVAQH
  • TEGLVRG
  • GAVVDVQF
  • TDPAPAT
  • QMNEPPG
  • REGNDLY
  • PEQAFYM
  • RARKIQRF
  • FIDNIFR
  • DVLLFID
  • PSAVGYQPTLATDMG
  • GVGERTR
  • LQDIIAILGMDELSE
  • IAELGIYPA
  • RFLSQPF
  • DNIFRFTQAG
  • VSRARKI
  • YPAVDPL
  • TVAEYFRD
  • LQDIIAILG
  • QAIYVPADD
  • PPGARARVAL
  • PADDLTDP
  • NVIGEPIDE
  • FDEGLPPIL
  • YKSLQDIIAILGM
  • ILVTGIKV
  • VAEVFTG
  • GEYDHLPE
  • GGAGVGKT
  • MQERITTT
  • LDATTVL

Post-translational modifications for ATP5B Gene

  • Ubiquitination at Lys124, posLast=133133, Lys161, and posLast=201201
  • Glycosylation at posLast=106106
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP5B Gene

Domains & Families for ATP5B Gene

Gene Families for ATP5B Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ATP5B Gene

Graphical View of Domain Structure for InterPro Entry

P06576

UniProtKB/Swiss-Prot:

ATPB_HUMAN :
  • Belongs to the ATPase alpha/beta chains family.
Family:
  • Belongs to the ATPase alpha/beta chains family.
genes like me logo Genes that share domains with ATP5B: view

Function for ATP5B Gene

Molecular function for ATP5B Gene

GENATLAS Biochemistry:
ATP synthase H+ transporting,mitochondrial matrix (F1 segment),catalytic,beta subunit,cardiac muscle,complex V of oxidative phosphorylation (OXPHOS)
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + H(+)(In) = ADP + phosphate + H(+)(Out).
UniProtKB/Swiss-Prot Function:
Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits.

Enzyme Numbers (IUBMB) for ATP5B Gene

Phenotypes From GWAS Catalog for ATP5B Gene

Gene Ontology (GO) - Molecular Function for ATP5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity NAS 2870059
GO:0005515 protein binding IPI 10077593
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0016887 contributes_to ATPase activity IDA 12110673
genes like me logo Genes that share ontologies with ATP5B: view
genes like me logo Genes that share phenotypes with ATP5B: view

Animal Models for ATP5B Gene

MGI Knock Outs for ATP5B:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ATP5B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP5B Gene

Localization for ATP5B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5B Gene

Mitochondrion. Mitochondrion inner membrane. Note=Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP5B gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 5
nucleus 5
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATP5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion IEA,IDA 2870059
GO:0005743 mitochondrial inner membrane IEA --
GO:0005753 mitochondrial proton-transporting ATP synthase complex IDA 12110673
GO:0005754 mitochondrial proton-transporting ATP synthase, catalytic core NAS 2870059
genes like me logo Genes that share ontologies with ATP5B: view

Pathways & Interactions for ATP5B Gene

genes like me logo Genes that share pathways with ATP5B: view

Gene Ontology (GO) - Biological Process for ATP5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IMP 17510399
GO:0001649 osteoblast differentiation IDA 16210410
GO:0006091 generation of precursor metabolites and energy NAS 2870059
GO:0006629 lipid metabolic process IEA --
GO:0006754 ATP biosynthetic process TAS --
genes like me logo Genes that share ontologies with ATP5B: view

No data available for SIGNOR curated interactions for ATP5B Gene

Drugs & Compounds for ATP5B Gene

(10) Drugs for ATP5B Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1-ACETYL-2-CARBOXYPIPERIDINE Experimental Pharma Target 0
AUROVERTIN B Experimental Pharma Target 0
N1-(2-AMINO-4-METHYLPENTYL)OCTAHYDRO-PYRROLO[1,2-A] PYRIMIDINE Experimental Pharma Target 0
Piceatannol Experimental Pharma Target p56lck/Syk inhibitor, Inhibits TNF-induced NF-kappaB activation 0
Quercetin Experimental Nutra Target Antitumor agent 41

(1) Additional Compounds for ATP5B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for ATP5B Gene

Compound Action Cas Number
BTB06584 F1F0 ATP synthases 219793-45-0
Oligomycin A Mitochondrial ATP synthase Inhibitor 579-13-5
genes like me logo Genes that share compounds with ATP5B: view

Drug Products

Transcripts for ATP5B Gene

Unigene Clusters for ATP5B Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ATP5B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5B Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^
SP1: -
SP2: - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - - - - - - - - - -
SP7: - - -
SP8:
SP9: - - -
SP10: - - -
SP11: - - - - - - - - - - - - - - - - - -

ExUns: 12a · 12b · 12c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ATP5B Gene

GeneLoc Exon Structure for
ATP5B
ECgene alternative splicing isoforms for
ATP5B

Expression for ATP5B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP5B Gene

mRNA differential expression in normal tissues according to GTEx for ATP5B Gene

This gene is overexpressed in Heart - Left Ventricle (x6.0).

Protein differential expression in normal tissues from HIPED for ATP5B Gene

This gene is overexpressed in Heart (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP5B Gene



Protein tissue co-expression partners for ATP5B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP5B Gene:

ATP5B

SOURCE GeneReport for Unigene cluster for ATP5B Gene:

Hs.406510

Evidence on tissue expression from TISSUES for ATP5B Gene

  • Nervous system(5)
  • Liver(4.9)
  • Lung(4.6)
  • Eye(4.5)
  • Intestine(4.4)
  • Skin(4.4)
  • Muscle(4.2)
  • Pancreas(3.8)
  • Heart(3.7)
  • Kidney(3.6)
  • Stomach(3.3)
  • Blood(3.2)
  • Thyroid gland(2.8)
  • Adrenal gland(2.4)
  • Bone marrow(2.3)
  • Lymph node(2.3)
  • Bone(2.2)
  • Gall bladder(2.2)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with ATP5B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP5B Gene

Orthologs for ATP5B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP5B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP5B 33 34
  • 99.31 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP5B 34
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP5B 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP5B 34 33
  • 92.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATP5B 34 33
  • 92.35 (n)
OneToMany
-- 34
  • 74 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Atp5b 16 34 33
  • 89.22 (n)
rat
(Rattus norvegicus)
Mammalia Atp5b 33
  • 89.1 (n)
chicken
(Gallus gallus)
Aves ATP5B 34 33
  • 78.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP5B 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp5b 33
  • 78.93 (n)
Str.20526 33
African clawed frog
(Xenopus laevis)
Amphibia atp5b-prov 33
zebrafish
(Danio rerio)
Actinopterygii ATP5B 34
  • 83 (a)
OneToOne
atp5b 33
  • 78.79 (n)
hmzehn0534 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8681 33
fruit fly
(Drosophila melanogaster)
Insecta ATPsyn-bgr 35
  • 90 (a)
CG5389 35
  • 75 (a)
ATPsyn-beta 33 34
  • 74.67 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012106 33
  • 70.05 (n)
worm
(Caenorhabditis elegans)
Secernentea atp-2 34 33
  • 70.02 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATP2 33 34 36
  • 69.13 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D10703g 33
  • 68.53 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR169W 33
  • 68.4 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G08670 33
  • 68.22 (n)
soybean
(Glycine max)
eudicotyledons Gma.1312 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7062 33
rice
(Oryza sativa)
Liliopsida Os05g0553000 33
  • 69.2 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.1223 33
wheat
(Triticum aestivum)
Liliopsida Ta.5 33
corn
(Zea mays)
Liliopsida Zm.957 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4294 34
  • 74 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes atp2 33
  • 70.18 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05430 33
  • 68.79 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4478 33
Species where no ortholog for ATP5B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ATP5B Gene

ENSEMBL:
Gene Tree for ATP5B (if available)
TreeFam:
Gene Tree for ATP5B (if available)

Paralogs for ATP5B Gene

Pseudogenes.org Pseudogenes for ATP5B Gene

genes like me logo Genes that share paralogs with ATP5B: view

No data available for Paralogs for ATP5B Gene

Variants for ATP5B Gene

Sequence variations from dbSNP and Humsavar for ATP5B Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000934141 -- 56,647,665(+) AATAC(C/T)AGCCT upstream-variant-2KB
rs1000965276 -- 56,647,492(+) ACTGC(A/C/G)CTCCA upstream-variant-2KB
rs1001121129 -- 56,642,141(+) CAGGC(A/C/G)CCTGC intron-variant
rs1001423573 -- 56,647,201(+) CGACA(G/T)AGTGA upstream-variant-2KB
rs1002123788 -- 56,647,014(+) GAGAT(C/G/T)GAGAC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ATP5B Gene

Variant ID Type Subtype PubMed ID
nsv482992 CNV gain+loss 15286789

Variation tolerance for ATP5B Gene

Residual Variation Intolerance Score: 50.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.83; 58.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP5B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP5B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP5B Gene

Disorders for ATP5B Gene

Relevant External Links for ATP5B

Genetic Association Database (GAD)
ATP5B
Human Genome Epidemiology (HuGE) Navigator
ATP5B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP5B

No disorders were found for ATP5B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP5B Gene

Publications for ATP5B Gene

  1. The human ATP synthase beta subunit gene: sequence analysis, chromosome assignment, and differential expression. (PMID: 2687158) Neckelmann N … Liu JD (Genomics 1989) 2 3 4 60
  2. Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis. (PMID: 19878569) Chen SN … Marian AJ (BMC medical genetics 2009) 3 45 60
  3. Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. (PMID: 15242332) Aboulaich N … Vener AV (The Biochemical journal 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. ETS transcription factors regulate the expression of the gene for the human mitochondrial ATP synthase beta-subunit. (PMID: 7798271) Villena JA … Villarroya F (The Journal of biological chemistry 1994) 3 22 60

Products for ATP5B Gene

Sources for ATP5B Gene

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