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PHKB phosphorylase kinase, beta [ Homo sapiens (human) ]

Gene ID: 5257, updated on 30-Jun-2015
Official Symbol
PHKBprovided by HGNC
Official Full Name
phosphorylase kinase, betaprovided by HGNC
Primary source
HGNC:HGNC:8927
See related
Ensembl:ENSG00000102893; HPRD:01407; MIM:172490; Vega:OTTHUMG00000133102
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
Summary
Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
Orthologs
See PHKB in Epigenomics, MapViewer
Location:
16q12-q13
Exon count:
34
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (47461268..47701523)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (47495047..47735434)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene integrin alpha FG-GAP repeat containing 1 Neighboring gene uncharacterized LOC101927080 Neighboring gene RNA, 5S ribosomal pseudogene 424 Neighboring gene RNA, 5S ribosomal pseudogene 425 Neighboring gene Rho GTPase activating protein 20 pseudogene Neighboring gene NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene Neighboring gene eukaryotic translation initiation factor 4B pseudogene 5 Neighboring gene uncharacterized LOC105371236 Neighboring gene uncharacterized LOC100507534 Neighboring gene uncharacterized LOC101927132

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol The beta subunit of phosphorylase kinase is cleaved at leu678-pro679 by HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ41698, DKFZp781E15103

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to phosphorylase kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
glucose metabolic process TAS
Traceable Author Statement
more info
 
glycogen catabolic process TAS
Traceable Author Statement
more info
 
glycogen metabolic process TAS
Traceable Author Statement
more info
PubMed 
protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
phosphorylase kinase complex IBA
Inferred from Biological aspect of Ancestor
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
phosphorylase b kinase regulatory subunit beta
Names
phosphorylase kinase beta-subunit
phosphorylase kinase subunit beta
NP_000284.1
NP_001027005.1

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_016598.1 RefSeqGene

    Range
    5001..245225
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000293.2NP_000284.1  phosphorylase b kinase regulatory subunit beta isoform a

    See identical proteins and their annotated locations for NP_000284.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC007599, AC092374, X84908
    Consensus CDS
    CCDS10729.1
    UniProtKB/Swiss-Prot
    Q93100
    Conserved Domains (1) summary
    pfam00723
    Location:49470
    Glyco_hydro_15; Glycosyl hydrolases family 15
  2. NM_001031835.2NP_001027005.1  phosphorylase b kinase regulatory subunit beta isoform b

    See identical proteins and their annotated locations for NP_001027005.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional exon in the 5' region and an alternate exon in the 3' region, as compared to variant 1. The resulting isoform (b) is shorter and has an alternate N-terminus and a different segment in the C-terminal region, as compared to isoform a.
    Source sequence(s)
    AC007599, AC092374, BC033657
    Consensus CDS
    CCDS42161.1
    UniProtKB/Swiss-Prot
    Q93100
    Conserved Domains (1) summary
    pfam00723
    Location:42463
    Glyco_hydro_15; Glycosyl hydrolases family 15

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    47461268..47701523
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255984.3XP_005256041.1  

    See identical proteins and their annotated locations for XP_005256041.1

    UniProtKB/Swiss-Prot
    Q93100
    Conserved Domains (1) summary
    pfam00723
    Location:42463
    Glyco_hydro_15; Glycosyl hydrolases family 15
  2. XM_005255983.3XP_005256040.1  

    See identical proteins and their annotated locations for XP_005256040.1

    UniProtKB/Swiss-Prot
    Q93100
    Related
    ENSP00000299167, OTTHUMP00000164134, ENST00000299167, OTTHUMT00000256767
    Conserved Domains (1) summary
    pfam00723
    Location:49470
    Glyco_hydro_15; Glycosyl hydrolases family 15
  3. XM_011523106.1XP_011521408.1  

    Conserved Domains (1) summary
    pfam00723
    Location:49470
    Glyco_hydro_15; Glycosyl hydrolases family 15
  4. XM_011523107.1XP_011521409.1  

    Conserved Domains (1) summary
    pfam00723
    Location:277404
    Glyco_hydro_15; Glycosyl hydrolases family 15

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    48902240..49142934
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)