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PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit [ Homo sapiens (human) ]

Gene ID: 51422, updated on 23-Oct-2014
Official Symbol
PRKAG2provided by HGNC
Official Full Name
protein kinase, AMP-activated, gamma 2 non-catalytic subunitprovided by HGNC
Primary source
HGNC:HGNC:9386
See related
Ensembl:ENSG00000106617; HPRD:04119; MIM:602743; Vega:OTTHUMG00000157324
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AAKG; CMH6; WPWS; AAKG2; H91620p
Summary
AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family and encodes a protein with four cystathionine beta-synthase domains. Mutations in this gene have been associated with ventricular pre-excitation (Wolff-Parkinson-White syndrome), progressive conduction system disease and cardiac hypertrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
See PRKAG2 in Epigenomics, MapViewer
Location:
7q36.1
Exon count:
19
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (151556114..151877231, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (151253200..151574316, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene microRNA 3907 Neighboring gene crystallin, gamma N Neighboring gene Ras homolog enriched in brain Neighboring gene eukaryotic translation termination factor 1 pseudogene 2 Neighboring gene uncharacterized LOC644090 Neighboring gene PRKAG2 antisense RNA 1 Neighboring gene polypeptide N-acetylgalactosaminyltransferase-like 5 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 11

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in PRKAG2 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Familial hypertrophic cardiomyopathy 6 Compare labs
Glycogen storage disease of heart, lethal congenital
MedGen: C1849813 OMIM: 261740 GeneReviews: Not available
Compare labs
Wolff-Parkinson-White pattern
MedGen: C0043202 OMIM: 194200 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog
Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorder.
NHGRI GWA Catalog
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
NHGRI GWA Catalog
New loci associated with kidney function and chronic kidney disease.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat tat Knockdown of SIRT1 by its inhibitor or siRNA results in Tat-mediated reduction of phosphorylation of AMP-activated protein kinase (AMPK) and downstream acetyl-CoA carboxylase (ACC) PubMed
tat HIV-1 Tat induces IL-6 and TNF-alpha expression through the activation of cAMP-dependent protein kinase pathways PubMed
Vpr vpr HIV-1 Vpr directly interacts with PKA and is phosphorylated at position Ser79 by PKA. PKA activity is necessary for virion-delivered Vpr cell cycle arrest PubMed
matrix gag HIV-1 Matrix impairs proliferation of normal lymphocytes in vitro by inducing the activity of the inhibitory protein kinase A (PKA) PubMed
gag Protein kinase A (PKA) has been shown to phosphorylate HIV-1 Matrix in vitro PubMed

Go to the HIV-1, Human Interaction Database

  • AMPK inhibits chREBP transcriptional activation activity, organism-specific biosystem (from REACTOME)
    AMPK inhibits chREBP transcriptional activation activity, organism-specific biosystemAMP-activated protein kinase (AMPK) is a sensor of cellular energy levels. A high cellular ratio of AMP:ATP triggers the phosphorylation and activation of AMPK. Activated AMPK in turn phosphorylates ...
  • AMPK signaling, organism-specific biosystem (from WikiPathways)
    AMPK signaling, organism-specific biosystemAMPK signaling pathway, a fuel sensor and regulator, promotes ATP-producing and inhibits ATP-consuming pathways in various tissues. AMPK is a heterotrimer composed of alpha-catalytic and beta and gam...
  • AMPK signaling pathway, organism-specific biosystem (from KEGG)
    AMPK signaling pathway, organism-specific biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • AMPK signaling pathway, conserved biosystem (from KEGG)
    AMPK signaling pathway, conserved biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • Activation of PPARGC1A (PGC-1alpha) by phosphorylation, organism-specific biosystem (from REACTOME)
    Activation of PPARGC1A (PGC-1alpha) by phosphorylation, organism-specific biosystemThe transcriptional coactivator PPARGC1A (PGC-1alpha), one of the master regulators of mitochondrial biogenesis, is activated by phosphorylation. Energy depletion causes a reduction in ATP and an inc...
  • Adipocytokine signaling pathway, organism-specific biosystem (from KEGG)
    Adipocytokine signaling pathway, organism-specific biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
  • Adipocytokine signaling pathway, conserved biosystem (from KEGG)
    Adipocytokine signaling pathway, conserved biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
  • Circadian rhythm, organism-specific biosystem (from KEGG)
    Circadian rhythm, organism-specific biosystemCircadian rhythm is an internal biological clock, which enables to sustain an approximately 24-hour rhythm in the absence of environmental cues. In mammals, the circadian clock mechanism consists of ...
  • Circadian rhythm, conserved biosystem (from KEGG)
    Circadian rhythm, conserved biosystemCircadian rhythm is an internal biological clock, which enables to sustain an approximately 24-hour rhythm in the absence of environmental cues. In mammals, the circadian clock mechanism consists of ...
  • Energy Metabolism, organism-specific biosystem (from WikiPathways)
    Energy Metabolism, organism-specific biosystemThe PPARGC1A protein is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with the nuclear receptor PPARG, which permits the interaction of ...
  • Energy dependent regulation of mTOR by LKB1-AMPK, organism-specific biosystem (from REACTOME)
    Energy dependent regulation of mTOR by LKB1-AMPK, organism-specific biosystemUpon formation of a trimeric LKB1:STRAD:MO25 complex, LKB1 phosphorylates and activates AMPK. If the AMP:ATP ratio rises, this activation is maintained and AMPK activates the TSC complex by phosphory...
  • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
    Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
  • FoxO signaling pathway, organism-specific biosystem (from KEGG)
    FoxO signaling pathway, organism-specific biosystemThe forkhead box O (FOXO) family of transcription factors regulates the expression of genes in cellular physiological events including apoptosis, cell-cycle control, glucose metabolism, oxidative str...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • IGF1R signaling cascade, organism-specific biosystem (from REACTOME)
    IGF1R signaling cascade, organism-specific biosystemAfter autophosphorylation the type 1 insulin-like growth factor receptor (IGF1R) binds and phosphorylates scaffold proteins, IRS1/2/4 and SHC1, which in turn bind effectors possessing enzymatic activ...
  • IRS-mediated signalling, organism-specific biosystem (from REACTOME)
    IRS-mediated signalling, organism-specific biosystemRelease of phospho-IRS from the insulin receptor triggers a cascade of signalling events via PI3K, SOS, RAF and the MAP kinases.
  • IRS-related events, organism-specific biosystem (from REACTOME)
    IRS-related events, organism-specific biosystemIRS is one of the mediators of insulin signalling events. It is activated by phosphorylation and triggers a cascade of events involving PI3K, SOS, RAF and the MAP kinases. The proteins mentioned unde...
  • IRS-related events triggered by IGF1R, organism-specific biosystem (from REACTOME)
    IRS-related events triggered by IGF1R, organism-specific biosystemThe phosphorylated type 1 insulin-like growth factor receptor phosphorylates IR1, IRS2, IRS4 and possibly other IRS/DOK family members (reviewed in Pavelic et al. 2007, Chitnis et al. 2008, Maki et a...
  • Import of palmitoyl-CoA into the mitochondrial matrix, organism-specific biosystem (from REACTOME)
    Import of palmitoyl-CoA into the mitochondrial matrix, organism-specific biosystemThe mitochondrial carnitine system catalyzes the transport of long-chain fatty acids into the mitochondrial matrix where they undergo beta oxidation. This transport system consists of the malonyl-Co...
  • Insulin receptor signalling cascade, organism-specific biosystem (from REACTOME)
    Insulin receptor signalling cascade, organism-specific biosystemAutophosphorylation of the insulin receptor triggers a series of signalling events, mediated by SHC or IRS, and resulting in activation of the Ras/RAF and MAP kinase cascades. A second effect of the ...
  • Insulin signaling pathway, organism-specific biosystem (from KEGG)
    Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Insulin signaling pathway, conserved biosystem (from KEGG)
    Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Integration of energy metabolism, organism-specific biosystem (from REACTOME)
    Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Mitochondrial biogenesis, organism-specific biosystemMitochondrial biogenesis and remodeling occur in response to exercise and redox state (reviewed in Scarpulla et al. 2012, Handy and Loscalzo 2012, Piantadosi and Suliman 2012, Scarpulla 2011, Wenz et...
  • Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystem (from KEGG)
    Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
  • Non-alcoholic fatty liver disease (NAFLD), conserved biosystem (from KEGG)
    Non-alcoholic fatty liver disease (NAFLD), conserved biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Oxytocin signaling pathway, organism-specific biosystem (from KEGG)
    Oxytocin signaling pathway, organism-specific biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
  • Oxytocin signaling pathway, conserved biosystem (from KEGG)
    Oxytocin signaling pathway, conserved biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
  • PI3K Cascade, organism-specific biosystem (from REACTOME)
    PI3K Cascade, organism-specific biosystem
    PI3K Cascade
  • PKB-mediated events, organism-specific biosystem (from REACTOME)
    PKB-mediated events, organism-specific biosystemPKB and PDK1 are activated via membrane-bound PIP3. Activated PDK1 phosphorylates PKB, which in turn phosphorylates PDE3B. The latter hydrolyses cAMP to 5'AMP, depleting cAMP pools.
  • Regulation of AMPK activity via LKB1, organism-specific biosystem (from REACTOME)
    Regulation of AMPK activity via LKB1, organism-specific biosystemLKB1 forms a complex with STRAD and MO25 thereby attaining a higher activity towards its substrates belonging to the subfamily of AMPK like kinases. LKB1:STRAD:MO25 complex phosphorylates AMPK consta...
  • Regulation of Rheb GTPase activity by AMPK, organism-specific biosystem (from REACTOME)
    Regulation of Rheb GTPase activity by AMPK, organism-specific biosystemActivated AMPK phosphorylates TSC2 and activates the TSC complex. TSC2 functions as a GTPase-activating protein and stimulates the intrinsic GTPase activity of a small G-protein Rheb. This results in...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
    Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
  • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystemBinding of IGF1 (IGF-I) or IGF2 (IGF-II) to the extracellular alpha peptides of the type 1 insulin-like growth factor receptor (IGF1R) triggers the activation of two major signaling pathways: the SOS...
  • TOR signaling, organism-specific biosystem (from WikiPathways)
    TOR signaling, organism-specific biosystemTOR signaling is responsible for a cellular reaction towards nutrient and energy availability and hypoxia/stress. The mammalian Target Of Rapamycin (mTOR), a serine/threonine kinase, is the central r...
  • Translocation of GLUT4 to the plasma membrane, organism-specific biosystem (from REACTOME)
    Translocation of GLUT4 to the plasma membrane, organism-specific biosystemIn adipocytes and myocytes insulin signaling causes intracellular vesicles carrying the GLUT4 (SLC2A4) glucose transporter to translocate to the plasma membrane, allowing the cells to take up glucose...
  • mTOR signalling, organism-specific biosystem (from REACTOME)
    mTOR signalling, organism-specific biosystem
    mTOR signalling
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ADP binding IDA
Inferred from Direct Assay
more info
PubMed 
AMP binding IEA
Inferred from Electronic Annotation
more info
 
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
cAMP-dependent protein kinase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
cAMP-dependent protein kinase regulator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphorylase kinase regulator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein kinase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ATP biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
carnitine shuttle TAS
Traceable Author Statement
more info
 
cell cycle arrest TAS
Traceable Author Statement
more info
 
cellular lipid metabolic process TAS
Traceable Author Statement
more info
 
energy reserve metabolic process TAS
Traceable Author Statement
more info
 
fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
glycogen metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
intracellular signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane organization TAS
Traceable Author Statement
more info
 
negative regulation of protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of peptidyl-threonine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of fatty acid biosynthetic process TAS
Traceable Author Statement
more info
 
regulation of fatty acid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of fatty acid oxidation TAS
Traceable Author Statement
more info
PubMed 
regulation of glucose import TAS
Traceable Author Statement
more info
PubMed 
regulation of glycolytic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
sterol biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
AMP-activated protein kinase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
Preferred Names
5'-AMP-activated protein kinase subunit gamma-2
Names
5'-AMP-activated protein kinase subunit gamma-2
AMPK subunit gamma-2
hypothetical protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007486.1 

    Range
    5001..326117
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001040633.1NP_001035723.1  5'-AMP-activated protein kinase subunit gamma-2 isoform c

    See proteins identical to NP_001035723.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) contains an alternate 5' exon and the translation starts from a downstream AUG codon, compared to variant a. The resulting isoform (c) has a shorter N-terminus when compared to isoform a.
    Source sequence(s)
    BC020540, BC068598, BM988346, DA084454, DA187928, DA697901
    Consensus CDS
    CCDS43683.1
    UniProtKB/Swiss-Prot
    Q9UGJ0
    Conserved Domains (3) summary
    COG0517
    Location:315435
    COG0517; FOG: CBS domain [General function prediction only]
    cd04618
    Location:234363
    CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
    cd04641
    Location:390509
    CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
  2. NM_016203.3NP_057287.2  5'-AMP-activated protein kinase subunit gamma-2 isoform a

    See proteins identical to NP_057287.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) represents the longest transcript and encodes the longest isoform (a, also referred to as PRKAG2-a).
    Source sequence(s)
    AI084919, AJ249976, BC020540, BM988346, DA123009
    Consensus CDS
    CCDS5928.1
    UniProtKB/Swiss-Prot
    Q9UGJ0
    Related
    ENSP00000287878, OTTHUMP00000211953, ENST00000287878, OTTHUMT00000348440
    Conserved Domains (3) summary
    COG0517
    Location:359479
    COG0517; FOG: CBS domain [General function prediction only]
    cd04618
    Location:278407
    CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
    cd04641
    Location:434553
    CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
  3. NM_024429.1NP_077747.1  5'-AMP-activated protein kinase subunit gamma-2 isoform b

    See proteins identical to NP_077747.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) contains a distinct 5' UTR and lacks a large in-frame portion of the 5' coding region, compared to variant a. The resulting isoform (b, also referred to as PRKAG2-b) has a much shorter N-terminus when compared to isoform a.
    Source sequence(s)
    AK001887, BC020540, BM988346
    Consensus CDS
    CCDS47752.1
    UniProtKB/Swiss-Prot
    Q9UGJ0
    Related
    ENSP00000387386, OTTHUMP00000211954, ENST00000418337, OTTHUMT00000348441
    Conserved Domains (3) summary
    COG0517
    Location:118238
    COG0517; FOG: CBS domain [General function prediction only]
    cd04618
    Location:37166
    CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
    cd04641
    Location:193312
    CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

    Range
    151556114..151877231
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250005.1XP_005250062.1  

    See proteins identical to XP_005250062.1

    Conserved Domains (3) summary
    COG0517
    Location:358478
    COG0517; FOG: CBS domain [General function prediction only]
    cd04618
    Location:277406
    CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
    cd04641
    Location:433552
    CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
  2. XM_005250003.1XP_005250060.1  

    Conserved Domains (3) summary
    COG0517
    Location:358478
    COG0517; FOG: CBS domain [General function prediction only]
    cd04618
    Location:277406
    CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
    cd04641
    Location:433552
    CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
  3. XM_005250002.1XP_005250059.1  

    Conserved Domains (3) summary
    COG0517
    Location:359479
    COG0517; FOG: CBS domain [General function prediction only]
    cd04618
    Location:278407
    CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
    cd04641
    Location:434553
    CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
  4. XM_005250004.1XP_005250061.1  

    Conserved Domains (3) summary
    COG0517
    Location:315435
    COG0517; FOG: CBS domain [General function prediction only]
    cd04618
    Location:234363
    CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
    cd04641
    Location:390509
    CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
  5. XM_006716021.1XP_006716084.1  

    Conserved Domains (3) summary
    COG0517
    Location:355475
    COG0517; FOG: CBS domain [General function prediction only]
    cd04618
    Location:274403
    CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
    cd04641
    Location:430549
    CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
  6. XM_005250006.2XP_005250063.1  

    Conserved Domains (3) summary
    COG0517
    Location:235355
    COG0517; FOG: CBS domain [General function prediction only]
    cd04618
    Location:154283
    CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
    cd04641
    Location:310429
    CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
  7. XM_005250007.2XP_005250064.1  

    See proteins identical to XP_005250064.1

    Related
    ENSP00000419577, OTTHUMP00000211956, ENST00000492843, OTTHUMT00000348443
    Conserved Domains (3) summary
    COG0517
    Location:234354
    COG0517; FOG: CBS domain [General function prediction only]
    cd04618
    Location:153282
    CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
    cd04641
    Location:309428
    CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
  8. XM_005250009.1XP_005250066.1  

    Conserved Domains (3) summary
    COG0517
    Location:98218
    COG0517; FOG: CBS domain [General function prediction only]
    cd04618
    Location:17146
    CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
    cd04641
    Location:173292
    CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...

Alternate HuRef

Genomic

  1. AC_000139.1 

    Range
    145065108..145385764
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

    Range
    151261930..151582980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)