RBCC Red Blood Cell Collection

KPBB_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Membrane associated protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: PHKB
Protein names and data: KPBB_HUMAN , Phosphorylase b kinase regulatory subunit beta; Phosphorylase kinase subunit beta Lenght: 1093 a.a.
Mass: 124884 Da
fasta formatted sequence
Function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.
Pathway: Glycan biosynthesis; glycogen metabolism.
Disease: ( OMIM: 172490 261750 ) Glycogen storage disease 9B (GSD9B) [MIM:261750]: A metabolic disorder characterized by hepatomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential).

Genetic variants

118 - 118 A -> P (in GSD9B). VAR_015536
657 - 657 Q -> K (in dbSNP:rs34667348). VAR_020857 34667348
770 - 770 Y -> C (in dbSNP:rs16945474). VAR_006187 16945474
820 - 820 E -> V (in dbSNP:rs9934849). VAR_034056 9934849
867 - 867 L -> V (in a breast cancer sample; somatic mutation). VAR_036486
877 - 877 G -> R (in a breast cancer sample; somatic mutation). VAR_036487

Database cross-references

UniProt: Q93100
Ensembl: ENST00000299167
Ensembl: ENST00000323584
Ensembl: ENST00000455779
Ensembl: ENST00000566044
MIM: 172490
MIM: 261750
neXtProt: NX_Q93100
Antibodypedia: Q93100 (may not find the protein thus also not any antibody)
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