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Different products from the same gene
In genetics, an isoform is a member of a set of similar products that originate from the same gene; such a set can consist of mRNAs or their resultant
Isoform
Human leukocyte antigen serotype
genetically linked HLA-DQA1 alleles, to form the cis-haplotype isoforms. These isoforms, nicknamed DQ2.2 and DQ2.5, are also encoded by the DQA1*0201 and
HLA-DQ2
Process by which a gene can code for multiple proteins
dsx above). Multiple isoforms of the Fas receptor protein are produced by alternative splicing. Two normally occurring isoforms in humans are produced
Alternative_splicing
Mammalian protein found in humans
disease progression determined by the androgen receptor genotype. Two isoforms of the androgen receptor (A and B) have been identified: AR-A – 87 kDa;
Androgen_receptor
Human protein
variants, each encoding a protein isoform. Isoform 1, the canonical sequence, has 7 exons. The remaining isoforms are missing various exons and/or have
CXorf38_Isoform_1
C13of46 Gene and Protein
alternatively spliced mRNA transcript, which produce five different protein isoforms. An alternative name for C13orf46 is LOC100507747. C13orf46 spans 47,563
C13orf46
Protein
categorised into two groups: muscle tropomyosin isoforms and nonmuscle tropomyosin isoforms. Muscle tropomyosin isoforms are involved in regulating interactions
Tropomyosin
Protein involved in multiple prion diseases
multiple isoforms: the normal PrPC form, and the protease-resistant form designated PrPRes such as the disease-causing PrPSc (scrapie) and an isoform located
Major_prion_protein
FAM199X has two isoforms, each with 6 exons and two variants of each isoform. Isoform X1 encodes for 345 amino acids while Isoform X2 encodes a 205 amino
FAM199X
Autoantibodies
ATA can be classified according to 2 different schemes: transglutaminase isoform and immunoglobulin reactivity subclass (IgA, IgG) toward transglutaminases
Anti-transglutaminase antibodies
Anti-transglutaminase_antibodies
Protein-coding gene in the species Homo sapiens
mRNA for human TMEM241, isoform 1, contains a 5' UTR hairpin loop conserved in primates. The primary mRNA for human TMEM241 isoform 1 contains binding sites
TMEM241
Prolamin found in wheat
ascites fluid production to produce large amounts of a single antibody isoform. Mab can be used to detect levels of gluten in food products. Some of these
Anti-gliadin_antibodies
Class of enzymes
isoenzymes eNOS (endothelial NOS) and nNOS (neuronal NOS). The inducible isoform, iNOS, involved in immune response, binds calmodulin at physiologically
Nitric_oxide_synthase
Cell surface receptor protein found on antigen-presenting cells
4 isoforms of DQ. The DQ loci are in close genetic linkage to HLA-DR, and less closely linked to HLA-DP, HLA-A, HLA-B and HLA-C. Different isoforms of
HLA-DQ
Protein-coding gene in the species Homo sapiens
isoform differs from the canonical sequence in a similar way as the isoform 2: Aminoacids 1-12: MVTPALQMKKPK → MPARSGA The sequence of this isoform misses
DNA-3-methyladenine glycosylase
DNA-3-methyladenine_glycosylase
Protein-coding gene in the species Homo sapiens
pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells
AMPD3
Group of transport proteins
two isoforms of this membrane transport protein, NKCC1 and NKCC2, encoded by two different genes (SLC12A2 and SLC12A1 respectively). Two isoforms of the
Na–K–Cl_cotransporter
Protein-coding gene in the species Homo sapiens
In total, the TTC16 protein is 873 amino acids in length. There are two isoforms, of which variant 1 is the longest. There are 17 spliced versions of the
Tetratricopeptide repeat protein 16
Tetratricopeptide_repeat_protein_16
Protein and coding gene in humans
Casein kinase I isoform epsilon or CK1ε, is an enzyme that is encoded by the CSNK1E gene in humans. It is the mammalian homolog of doubletime. CK1ε is
Casein kinase 1 isoform epsilon
Casein_kinase_1_isoform_epsilon
Isoform of the progesterone receptor
known isoforms of the progesterone receptor (PR), the main biological target of the endogenous progestogen sex hormone progesterone. The other isoforms of
Progesterone_receptor_B
Antibodies that react to self-gangliosides
pneumoniae (Minor) Coeliac Disease(Rare) Isoform specific autoantibody characteristics Autoantigen Isoform Ganglioside D3 (GD3) Affected Organ(s) Muscle
Antiganglioside_antibodies
Protein and gene in humans
isoform b. Isoform b lacks the first 58 amino acids following the N-terminus of isoform a, but the remaining 199 amino acids are identical to isoform
TMEM101
Protein found in humans
located on the minus strand of chromosome 2 and encodes three protein isoforms. All isoforms of CCDC121 contain a domain of unknown function referred to as DUF4515
CCDC121
Protein-coding gene in the species Homo sapiens
cloning, genomic organization, and functional expression of Na+/H+ exchanger isoform 5 (NHE5) from human brain". J. Biol. Chem. 274 (7): 4377–82. doi:10.1074/jbc
Sodium/hydrogen_exchanger_5
Protein-coding gene in humans
The longest and most complete transcript of the gene, variant 1, encodes isoform 1 of the BEND2 protein (NP_699177.2). The untranslated regions (UTR) flanking
BEND2
Class of enzymes
hemoglobin, gaining it the inaccurate synonym methemoglobin reductase. Isoforms expressed in erythrocytes (CYB5R1, CYB5R3) perform this function in vivo
Cytochrome_b5_reductase
The different isoforms are: Isoform 1 Isoform 1 is known as the canonical sequence. This means that the changes in the other isoforms will be related
Alpha-tubulin N-acetyltransferase
Alpha-tubulin_N-acetyltransferase
Components of chromatin in eukaryotic cells
to the existence of multiple isoforms that may be present in several gene clusters, but various linker histone isoforms have been depleted to varying
Histone_H1
Human leukocyte antigen serotype
genetically linked HLA-DQA1 alleles, to form the cis-haplotype isoforms. These isoforms, are all HLA-DQ1 encoded by the DQA1*01 allele group. The efficiency
HLA-DQ5
Class of enzymes
associated with neurodegeneration. All NMNAT isoforms reportedly decline with age. The three protein isoforms have the following cellular localizations NMNAT1 :
Nicotinamide-nucleotide adenylyltransferase
Nicotinamide-nucleotide_adenylyltransferase
Protein
appears to have two common isoforms and seven less common transcript variants. The primary encoded precursor protein (C1orf141 Isoform 1) consists of 400 amino
C1orf141
Isoform of the progesterone receptor
known isoforms of the progesterone receptor (PR), the main biological target of the endogenous progestogen sex hormone progesterone. The other isoforms of
Progesterone_receptor_C
Mammalian protein found in Homo sapiens
needed] CD45 is a type I transmembrane protein that is present in various isoforms on all differentiated hematopoietic cells (except erythrocytes and plasma
PTPRC
Protein-coding gene in the species Homo sapiens
Myosin heavy chain, α isoform (MHC-α) is a protein that in humans is encoded by the MYH6 gene. This isoform is distinct from the ventricular/slow myosin
MYH6
Protein found in humans
5 different CFAP97D2 isoforms: X1, X2, X3, 1, and 2. Isoform X1 is 166 AA, the longest isoform of Homo sapiens CFAP97D2. Isoform X2 has 2 deleterious
CFAP97D2
Acetylcholine receptors named for their selective binding of muscarine
Muscarinic acetylcholine receptors (mAChRs) are acetylcholine receptors that form G protein-coupled receptor complexes in the cell membranes of certain
Muscarinic acetylcholine receptor
Muscarinic_acetylcholine_receptor
DQ haplotypes and DQ isoforms on the right). HLA-DQ2 primarily presents gliadins with the HLA-DQ isoform DQ2.5 (DQ α5-β2) isoform. DQA1*0202:DQB1*0201
Gluten_immunochemistry
Protein-coding gene in the species Homo sapiens
40S ribosomal protein S4, X isoform is a protein that in humans is encoded by the RPS4X gene. Ribosomes, organelles that catalyze protein synthesis, consist
40S ribosomal protein S4, X isoform
40S_ribosomal_protein_S4,_X_isoform
Mammalian protein found in humans
the full-length protein, the human TP53 gene encodes at least 12 protein isoforms. Comparative genomic studies found pathogenic mutations absent in some
P53
Stimulating neuropeptide
known as hypocretin-1, is a naturally occurring neuropeptide and orexin isoform. The orexinergic nucleus in the lateral hypothalamus is the primary orexin
Orexin-A
Protein-coding gene in the species Homo sapiens
isoelectric point of 8.77. It has 17 different isoforms and the most common is isoform 1. Every human GPATCH2L isoform has a GPATCH2L domain, but no other significant
GPATCH2L
Protein family
molecule in solution. eIF4A is an abundant cytoplasmic protein. Three isoforms (specifically, paralogs) of eIF4A exist in humans; I and II share 95% amino
EIF4A
Class of intracellular transport proteins
and muscle contraction by releasing calcium ions. There are three major isoforms of the ryanodine receptor (RyR1, RyR2, and RyR3), which are found in different
Ryanodine_receptor
Mammalian protein found in Homo sapiens
different isoforms predicted for CHLSN. Of these transcripts, 5 of them encode for the same isoform (X3). The remaining transcripts encode isoforms X2, X4
Cholesin
Transport protein
There are four isoforms of PMCA, called PMCA 1 through 4. ATP2B1 - PMCA1 ATP2B2 - PMCA2 ATP2B3 - PMCA3 ATP2B4 - PMCA4 Each isoform is coded by a different
Plasma_membrane_Ca2+_ATPase
Protein-coding gene in humans
subunit a isoform 2, also known as V-ATPase 116 kDa isoform a2, is an enzyme that in humans is encoded by the ATP6V0A2 gene. V-ATPase 116 kDa isoform a2 is
ATP6V0A2
Class of enzymes
energy production. The pair of isoforms has also been observed in other bacteria. In many bacteria, the biodegradative isoform of the enzyme is expressed
Threonine_ammonia-lyase
Protein-coding gene in the species Homo sapiens
14 exons and produces four alternatively spliced mRNAs that encode two isoforms of the ACSF3 protein: Three transcript variants encode a 576-amino acid
ACSF3
Protein-coding gene in the species Homo sapiens
for acidic, basic and/or keratinocyte growth factor, depending on the isoform. FGFR2 has important roles in embryonic development and tissue repair,
Fibroblast growth factor receptor 2
Fibroblast_growth_factor_receptor_2
Family of transport proteins
Light-gated ion channels are a family of ion channels regulated by electromagnetic radiation. Other gating mechanisms for ion channels include voltage-gated
Light-gated_ion_channel
Protein-coding gene in the species Homo sapiens
by the SHANK2 gene. Two alternative splice variants, encoding distinct isoforms, are reported. Additional splice variants exist but their full-length nature
SHANK2
Human leukocyte antigen serotype
the antibody recognition of β6 subset of DQ β-chains. The β-chain of DQ isoforms are encoded by HLA-DQB1 locus and DQ6 are encoded by the HLA-DQB1*06 allele
HLA-DQ6
Largest known protein in human muscles
its length of ~27,000 to ~35,000 amino acids (depending on the splice isoform), titin is the largest known protein. Furthermore, the gene for titin contains
Titin
Protein-coding gene in the species Homo sapiens
There are currently 2 isoforms for FAM214B protein, where isoform 1 encodes for Variant 1 for the longest protein and isoform 2 encoded by Variant 2
FAM214B
Chemical compound
(HDACi) that is potent against recombinant class I HDACs (isoforms 1-3) and class IIb HDAC (isoform 6) with low nanomolar affinities. In tissue CETSA assays
Martinostat
Protein-coding gene in the species Homo sapiens
cytoplasmic tail that is not found in the G6b-A isoform. G6b-A isoform is different from G6b-B isoform by the cytoplasmic tail that is not found in G6b-A
G6B
Protein
type known as laminin isoforms. It was among the first of the laminin isoforms to be discovered. The "111" identifies the isoform's chain composition of
Laminin_111
Protein-coding gene in humans
a molecular mass of 32,142 daltons. There are four protein isoforms. The primary isoform (X1) is 287 amino acids long. C2orf73 contains a short sequence
CIMIP6
Protein-coding gene in the species Homo sapiens
25 C 1u3t: Crystal Structure of Human Alcohol Dehydrogenase Alpha-Alpha Isoform Complexed with N-Cyclopentyl-N-Cyclobutylformamide Determined to 2.5 Angstrom
ADH1B
has 4 isoforms: 1, 2, 3, and X1. Exons 1, 2, and 4 are identical in each isoform, with all differences in isoforms contained within exon 3. Isoform 1, 2
Shisa-8
Neurodevelopmental genetic disorder
functionally equivalent protein isoforms are encoded by the UGP2 gene, a longer one (isoform 1) and a slightly shorter one (isoform 2), that only differ by 11
Barakat–Perenthaler_syndrome
Enzyme
HOOC−CH2−CH2−CH(NH2)−COOH → CO2 + HOOC−CH2−CH2−CH2NH2 In mammals, GAD exists in two isoforms with molecular weights of 67 and 65 kDa (GAD67 and GAD65), which are encoded
Glutamate_decarboxylase
Protein-coding gene in the species Homo sapiens
enzyme with two isoforms characterized by their distinct subcellular localizations: the nuclear isoform (DUT-N) and mitochondrial isoform (DUT-M). Northern
DUT_(gene)
Muscle protein family
accessions: Slow-twitch skeletal muscle isoform troponin I, TNNI1 (1q31.3, 191042) Fast-twitch skeletal muscle isoform troponin I, TNNI2 (11p15.5, 191043)
Troponin_I
Enzyme found in humans
carnitine from the cytosol into the intermembrane space of mitochondria. Three isoforms of CPT1 are currently known: CPT1A, CPT1B, and CPT1C. CPT1 is associated
Carnitine palmitoyltransferase I
Carnitine_palmitoyltransferase_I
Protein-coding gene in the species Homo sapiens
code for a protein. The only isoforms that are protein-encoding are isoform 1 and 2 of the human FAM120AOS gene. Isoform 2 is 5008 bp in length and contains
FAM120AOS
Protein-coding gene in humans
Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform is an enzyme that (in humans) is encoded by the PPP2CA gene. This gene encodes
PPP2CA
Protein-coding gene in the species Homo sapiens
PP2A subunit B isoform delta also known as serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform is a protein that in humans
PPP2R2D
Class of enzymes
pectylhydrolase) is a ubiquitous cell-wall-associated enzyme that presents several isoforms that facilitate plant cell wall modification and subsequent breakdown.
Pectinesterase
Protein-coding gene in the species Homo sapiens
is located on chromosome 11 (p15.5), encoding the fast skeletal muscle isoform of troponin T (fsTnT). fsTnT is an ~31-kDa protein consisting of 268 amino
Troponin T, fast skeletal muscle
Troponin_T,_fast_skeletal_muscle
Autoantibody Anti-Apolipoprotein, β-2 Glycoprotein 1 Autoantigen Isoform Apolipoprotein H Autoantigen gene APOH Affected organ(s) Cardiovascular Affected
Anti-apolipoprotein antibodies
Anti-apolipoprotein_antibodies
Chemical compound and enzyme
extensively in biochemistry applications. It is a metalloenzyme with many isoforms, of which the most studied type is C. It catalyzes the oxidation of various
Horseradish_peroxidase
Drug mixture used mainly to treat ADHD and narcolepsy
9758/cpn.2012.10.3.136. PMC 3569166. PMID 23430970. The 35-37 kD ΔFosB isoforms accumulate with chronic drug exposure due to their extraordinarily long
Adderall
Protein-coding gene in the species Homo sapiens
two paralogs, c1orf116 and specifically androgen-regulated gene protein isoform 1. The PROSER2 protein has a currently uncharacterized function however
Proline and serine-rich protein 2
Proline_and_serine-rich_protein_2
Protein-coding gene in the species Homo sapiens
three known isoforms. Isoform 1 has 199 amino acid residues and a domain named DUF4517. Isoform 2 has 174 amino acid residues, and isoform X1 has 154 amino
Adipose-secreted signaling protein
Adipose-secreted_signaling_protein
Protein and coding gene in humans
three isoforms have their own variants. None of the variants share similar exon boundaries, domain or disordered regions. There are six known Isoforms of
TMEM61
Protein family
geranylgeranyl groups on the two C-terminal cysteines. Rab27 has two main isoforms: Rab27a and Rab27b. These are similar in primary composition, with 66%
RAB27
Protein-coding gene in the species Homo sapiens
splice isoforms - a fully spliced isoform coding for the protein, an isoform containing a retained intron that is detained in the nucleus, and an isoform containing
ARGLU1
Aminotransferase enzyme
all mammals. Mammalian BCATs come in two isoforms: cytosolic (BCATc) and mitochondrial (BCATm). The isoforms share 58% homology, but vary in location
Branched-chain amino acid aminotransferase
Branched-chain_amino_acid_aminotransferase
Protein-coding gene in humans
associated to sympathetic tone. Seven transcript variants encoding six distinct isoforms have been identified for this gene. Additional splice variants have been
CAMKK2
Family of enzymes
(or classical), novel, and atypical. Conventional (c)PKCs contain the isoforms α, βI, βII, and γ. These require Ca2+, DAG, and a phospholipid such as
Protein_kinase_C
CNS stimulant and isomer of amphetamine
9758/cpn.2012.10.3.136. PMC 3569166. PMID 23430970. The 35-37 kD ΔFosB isoforms accumulate with chronic drug exposure due to their extraordinarily long
Dextroamphetamine
Class of enzyme complexes
disease and Alzheimer's disease, however as of 2014 it was unclear which isoforms would be most beneficial to target, and also whether activation or inhibition
Protein_phosphatase_2
Protein-coding gene in the species Homo sapiens
encoding different isoforms have been found for this gene. The two isoforms have different antiapoptotic properties, with isoform alpha protecting cells
BIRC7
Protein in Humans
unspliced. Variant 1 is the predominant variant and encodes THAP3 protein isoform 1. The H. sapiens THAP3 protein is predicted to have a molecular weight
THAP3
Protein-coding gene in humans
dehydrogenase. Three alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] IDH3
IDH3B
Group of six protein isoforms produced from the MAPT gene
from tubulin associated unit) form a group of six highly soluble protein isoforms produced by alternative splicing from the gene MAPT (microtubule-associated
Tau_protein
Protein-coding gene in the species Homo sapiens
different transcripts, each capable of encoding a different OGA isoform. The long isoform L-OGA, a bifunctional enzyme that possess a glycoside hydrolase
Protein_O-GlcNAcase
Protein-coding gene in humans
chromosomal location of each isoform in comparison to TMEM8B. Protein analysis was completed on Isoform A. TMEM8B isoform A is 472 amino acids long. The
TMEM8B
Medication
In 1971, Knoll showed that selegiline highly selectively inhibits the B-isoform of monoamine oxidase (MAO-B) and proposed that it is unlikely to cause
Selegiline
Chemical compound
therapy. Dalpicicilib is a CDK inhibitor that targets the CDK4 and CDK6 isoforms. Chen X, Shen K (June 2023). "Dalpiciclib in advanced breast cancer". The
Dalpiciclib
Enzyme found in humans
Unc-51-like autophagy-activating kinases 1 and 2 (ULK1/2) are two similar isoforms of an enzyme that in humans is encoded by the ULK1/2 genes. The enzyme
ULK1
Protein fragment in Homo sapiens
Studies have identified a GHBP isoform that exists due to gene polymorphism, or variable expression of the allele. These isoforms differ based on whether or
Growth hormone-binding protein
Growth_hormone-binding_protein
Pain medication of the opiate family
morphine. Solute carrier family 22 member 1 (organic cation transporter isoform 1) is an efflux pump and expressed predominantly in hepatic cells, where
Morphine
Protein-coding gene in the species Homo sapiens
do not include introns. 3 isoforms have been reported for SLC46A3. Isoform a is MANE select and most abundant. All isoforms contain the MFS and MFS_1
SLC46A3
Species of plant
ribosome-inactivating proteins. Amongst the saponins isolated with this property are isoform 6 of saponarin (SO6, saponin S6) from the seeds, and saporin-L1 (SAP) from
Saponaria_officinalis
Enzyme found in humans
Casein kinase I isoform alpha is an enzyme that in humans is encoded by the CSNK1A1 gene. Casein kinase 1, alpha 1 has been shown to interact with Centaurin
Casein_kinase_1,_alpha_1
Enzyme that metabolizes substances by oxidation
of CYP3A4. Alternatively-spliced transcript variants encoding different isoforms have been identified. CYP3A4 is a member of the cytochrome P450 superfamily
CYP3A4
Mammalian protein found in Homo sapiens
expressed as at least four different isoforms. In cardiac muscle and skeletal muscle, the integrin beta-1D isoform is specifically expressed, and localizes
Integrin_beta_1
Protein-coding gene in the species Homo sapiens
The TBC1D4 gene has two isoforms - a long isoform expressed almost exclusively in skeletal and cardiac muscle, and a short isoform with more widespread expression
TBC1D4
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