Q93100 (KPBB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Phosphorylase b kinase regulatory subunit beta
Short name=Phosphorylase kinase subunit beta

Gene names

Name:

PHKB

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1093 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

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.
Enzyme regulation	By phosphorylation of various serine residues By similarity.
Pathway	Glycan biosynthesis; glycogen metabolism.
Subunit structure	Hexadecamer of 4 heterotetramers, each composed of alpha, beta, gamma, and delta subunits. Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.
Subcellular location	Cell membrane; Lipid-anchor; Cytoplasmic side Potential.
Post-translational modification	Ser-701 is probably phosphorylated by PKA. Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated By similarity.
Involvement in disease	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. Ref.10
Sequence similarities	Belongs to the phosphorylase b kinase regulatory chain family.

Ontologies

Keywords
Biological process	Carbohydrate metabolism Glycogen metabolism
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Glycogen storage disease
Ligand	Calmodulin-binding
PTM	Acetylation Lipoprotein Phosphoprotein Prenylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	glucose metabolic process Traceable author statement. Source: Reactome glycogen catabolic process Traceable author statement. Source: Reactome small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	cytosol Traceable author statement. Source: Reactome plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	hydrolase activity, hydrolyzing O-glycosyl compounds Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q93100-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q93100-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: MAGAAGLTAEVSWKVLERRARTK → MACSPDAVVSPSSAFL

Note: Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. Contains a phosphoserine at position 4.

Isoform 3 (identifier: Q93100-3)

The sequence of this isoform differs from the canonical sequence as follows:
     780-806: LAVRYGAAFTQKFSSSIAPHITTFLVH → SVVRRAASLLSKVVDSLAPSITNVLVQ

Isoform 4 (identifier: Q93100-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: MAGAAGLTAEVSWKVLERRARTK → MACSPDAVVSPSSAFL
     780-806: LAVRYGAAFTQKFSSSIAPHITTFLVH → SVVRRAASLLSKVVDSLAPSITNVLVQ

Note: Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. Contains a phosphoserine at position 4.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed By similarity
	Chain	2 – 1093	1092	Phosphorylase b kinase regulatory subunit beta		PRO_0000057736
Regions
	Region	7 – 29	23	Calmodulin-binding Potential
	Region	768 – 795	28	Calmodulin-binding Potential
	Region	920 – 951	32	Calmodulin-binding Potential
Amino acid modifications
	Modified residue	2	1	N-acetylalanine By similarity
	Modified residue	12	1	Phosphoserine; by autocatalysis By similarity
	Modified residue	27	1	Phosphoserine Ref.5
	Modified residue	701	1	Phosphoserine By similarity
	Lipidation	1090	1	S-farnesyl cysteine By similarity
Natural variations
	Alternative sequence	1 – 23	23	MAGAA…RARTK → MACSPDAVVSPSSAFL in isoform 2 and isoform 4.		VSP_012445
	Alternative sequence	780 – 806	27	LAVRY…TFLVH → SVVRRAASLLSKVVDSLAPS ITNVLVQ in isoform 3 and isoform 4.		VSP_012446
	Natural variant	118	1	A → P in GSD9B. Ref.10		VAR_015536
	Natural variant	657	1	Q → K. Ref.11 Corresponds to variant rs34667348 [ dbSNP | Ensembl ].		VAR_020857
	Natural variant	770	1	Y → C. Ref.9 Ref.11 Corresponds to variant rs16945474 [ dbSNP | Ensembl ].		VAR_006187
	Natural variant	820	1	E → V. Corresponds to variant rs9934849 [ dbSNP | Ensembl ].		VAR_034056
	Natural variant	867	1	L → V in a breast cancer sample; somatic mutation. Ref.12		VAR_036486
	Natural variant	877	1	G → R in a breast cancer sample; somatic mutation. Ref.12		VAR_036487

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 23, 2007. Version 3. Checksum: 48F05EE306195472	FASTA	1,093	124,884
	10 20 30 40 50 60 MAGAAGLTAE VSWKVLERRA RTKRSGSVYE PLKSINLPRP DNETLWDKLD HYYRIVKSTL 70 80 90 100 110 120 LLYQSPTTGL FPTKTCGGDQ KAKIQDSLYC AAGAWALALA YRRIDDDKGR THELEHSAIK 130 140 150 160 170 180 CMRGILYCYM RQADKVQQFK QDPRPTTCLH SVFNVHTGDE LLSYEEYGHL QINAVSLYLL 190 200 210 220 230 240 YLVEMISSGL QIIYNTDEVS FIQNLVFCVE RVYRVPDFGV WERGSKYNNG STELHSSSVG 250 260 270 280 290 300 LAKAALEAIN GFNLFGNQGC SWSVIFVDLD AHNRNRQTLC SLLPRESRSH NTDAALLPCI 310 320 330 340 350 360 SYPAFALDDE VLFSQTLDKV VRKLKGKYGF KRFLRDGYRT SLEDPNRCYY KPAEIKLFDG 370 380 390 400 410 420 IECEFPIFFL YMMIDGVFRG NPKQVQEYQD LLTPVLHHTT EGYPVVPKYY YVPADFVEYE 430 440 450 460 470 480 KNNPGSQKRF PSNCGRDGKL FLWGQALYII AKLLADELIS PKDIDPVQRY VPLKDQRNVS 490 500 510 520 530 540 MRFSNQGPLE NDLVVHVALI AESQRLQVFL NTYGIQTQTP QQVEPIQIWP QQELVKAYLQ 550 560 570 580 590 600 LGINEKLGLS GRPDRPIGCL GTSKIYRILG KTVVCYPIIF DLSDFYMSQD VFLLIDDIKN 610 620 630 640 650 660 ALQFIKQYWK MHGRPLFLVL IREDNIRGSR FNPILDMLAA LKKGIIGGVK VHVDRLQTLI 670 680 690 700 710 720 SGAVVEQLDF LRISDTEELP EFKSFEELEP PKHSKVKRQS STPSAPELGQ QPDVNISEWK 730 740 750 760 770 780 DKPTHEILQK LNDCSCLASQ AILLGILLKR EGPNFITKEG TVSDHIERVY RRAGSQKLWL 790 800 810 820 830 840 AVRYGAAFTQ KFSSSIAPHI TTFLVHGKQV TLGAFGHEEE VISNPLSPRV IQNIIYYKCN 850 860 870 880 890 900 THDEREAVIQ QELVIHIGWI ISNNPELFSG MLKIRIGWII HAMEYELQIR GGDKPALDLY 910 920 930 940 950 960 QLSPSEVKQL LLDILQPQQN GRCWLNRRQI DGSLNRTPTG FYDRVWQILE RTPNGIIVAG 970 980 990 1000 1010 1020 KHLPQQPTLS DMTMYEMNFS LLVEDTLGNI DQPQYRQIVV ELLMVVSIVL ERNPELEFQD 1030 1040 1050 1060 1070 1080 KVDLDRLVKE AFNEFQKDQS RLKEIEKQDD MTSFYNTPPL GKRGTCSYLT KAVMNLLLEG 1090 EVKPNNDDPC LIS
	Isoform 2 [UniParc]. Checksum: 3490D62940DA600F	FASTA	1,086	123,964
	10 20 30 40 50 60 MACSPDAVVS PSSAFLRSGS VYEPLKSINL PRPDNETLWD KLDHYYRIVK STLLLYQSPT 70 80 90 100 110 120 TGLFPTKTCG GDQKAKIQDS LYCAAGAWAL ALAYRRIDDD KGRTHELEHS AIKCMRGILY 130 140 150 160 170 180 CYMRQADKVQ QFKQDPRPTT CLHSVFNVHT GDELLSYEEY GHLQINAVSL YLLYLVEMIS 190 200 210 220 230 240 SGLQIIYNTD EVSFIQNLVF CVERVYRVPD FGVWERGSKY NNGSTELHSS SVGLAKAALE 250 260 270 280 290 300 AINGFNLFGN QGCSWSVIFV DLDAHNRNRQ TLCSLLPRES RSHNTDAALL PCISYPAFAL 310 320 330 340 350 360 DDEVLFSQTL DKVVRKLKGK YGFKRFLRDG YRTSLEDPNR CYYKPAEIKL FDGIECEFPI 370 380 390 400 410 420 FFLYMMIDGV FRGNPKQVQE YQDLLTPVLH HTTEGYPVVP KYYYVPADFV EYEKNNPGSQ 430 440 450 460 470 480 KRFPSNCGRD GKLFLWGQAL YIIAKLLADE LISPKDIDPV QRYVPLKDQR NVSMRFSNQG 490 500 510 520 530 540 PLENDLVVHV ALIAESQRLQ VFLNTYGIQT QTPQQVEPIQ IWPQQELVKA YLQLGINEKL 550 560 570 580 590 600 GLSGRPDRPI GCLGTSKIYR ILGKTVVCYP IIFDLSDFYM SQDVFLLIDD IKNALQFIKQ 610 620 630 640 650 660 YWKMHGRPLF LVLIREDNIR GSRFNPILDM LAALKKGIIG GVKVHVDRLQ TLISGAVVEQ 670 680 690 700 710 720 LDFLRISDTE ELPEFKSFEE LEPPKHSKVK RQSSTPSAPE LGQQPDVNIS EWKDKPTHEI 730 740 750 760 770 780 LQKLNDCSCL ASQAILLGIL LKREGPNFIT KEGTVSDHIE RVYRRAGSQK LWLAVRYGAA 790 800 810 820 830 840 FTQKFSSSIA PHITTFLVHG KQVTLGAFGH EEEVISNPLS PRVIQNIIYY KCNTHDEREA 850 860 870 880 890 900 VIQQELVIHI GWIISNNPEL FSGMLKIRIG WIIHAMEYEL QIRGGDKPAL DLYQLSPSEV 910 920 930 940 950 960 KQLLLDILQP QQNGRCWLNR RQIDGSLNRT PTGFYDRVWQ ILERTPNGII VAGKHLPQQP 970 980 990 1000 1010 1020 TLSDMTMYEM NFSLLVEDTL GNIDQPQYRQ IVVELLMVVS IVLERNPELE FQDKVDLDRL 1030 1040 1050 1060 1070 1080 VKEAFNEFQK DQSRLKEIEK QDDMTSFYNT PPLGKRGTCS YLTKAVMNLL LEGEVKPNND DPCLIS
	Isoform 3 [UniParc]. Checksum: D17DF713DA4DEBE0	FASTA	1,093	124,744
	10 20 30 40 50 60 MAGAAGLTAE VSWKVLERRA RTKRSGSVYE PLKSINLPRP DNETLWDKLD HYYRIVKSTL 70 80 90 100 110 120 LLYQSPTTGL FPTKTCGGDQ KAKIQDSLYC AAGAWALALA YRRIDDDKGR THELEHSAIK 130 140 150 160 170 180 CMRGILYCYM RQADKVQQFK QDPRPTTCLH SVFNVHTGDE LLSYEEYGHL QINAVSLYLL 190 200 210 220 230 240 YLVEMISSGL QIIYNTDEVS FIQNLVFCVE RVYRVPDFGV WERGSKYNNG STELHSSSVG 250 260 270 280 290 300 LAKAALEAIN GFNLFGNQGC SWSVIFVDLD AHNRNRQTLC SLLPRESRSH NTDAALLPCI 310 320 330 340 350 360 SYPAFALDDE VLFSQTLDKV VRKLKGKYGF KRFLRDGYRT SLEDPNRCYY KPAEIKLFDG 370 380 390 400 410 420 IECEFPIFFL YMMIDGVFRG NPKQVQEYQD LLTPVLHHTT EGYPVVPKYY YVPADFVEYE 430 440 450 460 470 480 KNNPGSQKRF PSNCGRDGKL FLWGQALYII AKLLADELIS PKDIDPVQRY VPLKDQRNVS 490 500 510 520 530 540 MRFSNQGPLE NDLVVHVALI AESQRLQVFL NTYGIQTQTP QQVEPIQIWP QQELVKAYLQ 550 560 570 580 590 600 LGINEKLGLS GRPDRPIGCL GTSKIYRILG KTVVCYPIIF DLSDFYMSQD VFLLIDDIKN 610 620 630 640 650 660 ALQFIKQYWK MHGRPLFLVL IREDNIRGSR FNPILDMLAA LKKGIIGGVK VHVDRLQTLI 670 680 690 700 710 720 SGAVVEQLDF LRISDTEELP EFKSFEELEP PKHSKVKRQS STPSAPELGQ QPDVNISEWK 730 740 750 760 770 780 DKPTHEILQK LNDCSCLASQ AILLGILLKR EGPNFITKEG TVSDHIERVY RRAGSQKLWS 790 800 810 820 830 840 VVRRAASLLS KVVDSLAPSI TNVLVQGKQV TLGAFGHEEE VISNPLSPRV IQNIIYYKCN 850 860 870 880 890 900 THDEREAVIQ QELVIHIGWI ISNNPELFSG MLKIRIGWII HAMEYELQIR GGDKPALDLY 910 920 930 940 950 960 QLSPSEVKQL LLDILQPQQN GRCWLNRRQI DGSLNRTPTG FYDRVWQILE RTPNGIIVAG 970 980 990 1000 1010 1020 KHLPQQPTLS DMTMYEMNFS LLVEDTLGNI DQPQYRQIVV ELLMVVSIVL ERNPELEFQD 1030 1040 1050 1060 1070 1080 KVDLDRLVKE AFNEFQKDQS RLKEIEKQDD MTSFYNTPPL GKRGTCSYLT KAVMNLLLEG 1090 EVKPNNDDPC LIS
	Isoform 4 [UniParc]. Checksum: AD1D7FD99C8EDF9D	FASTA	1,086	123,824
	10 20 30 40 50 60 MACSPDAVVS PSSAFLRSGS VYEPLKSINL PRPDNETLWD KLDHYYRIVK STLLLYQSPT 70 80 90 100 110 120 TGLFPTKTCG GDQKAKIQDS LYCAAGAWAL ALAYRRIDDD KGRTHELEHS AIKCMRGILY 130 140 150 160 170 180 CYMRQADKVQ QFKQDPRPTT CLHSVFNVHT GDELLSYEEY GHLQINAVSL YLLYLVEMIS 190 200 210 220 230 240 SGLQIIYNTD EVSFIQNLVF CVERVYRVPD FGVWERGSKY NNGSTELHSS SVGLAKAALE 250 260 270 280 290 300 AINGFNLFGN QGCSWSVIFV DLDAHNRNRQ TLCSLLPRES RSHNTDAALL PCISYPAFAL 310 320 330 340 350 360 DDEVLFSQTL DKVVRKLKGK YGFKRFLRDG YRTSLEDPNR CYYKPAEIKL FDGIECEFPI 370 380 390 400 410 420 FFLYMMIDGV FRGNPKQVQE YQDLLTPVLH HTTEGYPVVP KYYYVPADFV EYEKNNPGSQ 430 440 450 460 470 480 KRFPSNCGRD GKLFLWGQAL YIIAKLLADE LISPKDIDPV QRYVPLKDQR NVSMRFSNQG 490 500 510 520 530 540 PLENDLVVHV ALIAESQRLQ VFLNTYGIQT QTPQQVEPIQ IWPQQELVKA YLQLGINEKL 550 560 570 580 590 600 GLSGRPDRPI GCLGTSKIYR ILGKTVVCYP IIFDLSDFYM SQDVFLLIDD IKNALQFIKQ 610 620 630 640 650 660 YWKMHGRPLF LVLIREDNIR GSRFNPILDM LAALKKGIIG GVKVHVDRLQ TLISGAVVEQ 670 680 690 700 710 720 LDFLRISDTE ELPEFKSFEE LEPPKHSKVK RQSSTPSAPE LGQQPDVNIS EWKDKPTHEI 730 740 750 760 770 780 LQKLNDCSCL ASQAILLGIL LKREGPNFIT KEGTVSDHIE RVYRRAGSQK LWSVVRRAAS 790 800 810 820 830 840 LLSKVVDSLA PSITNVLVQG KQVTLGAFGH EEEVISNPLS PRVIQNIIYY KCNTHDEREA 850 860 870 880 890 900 VIQQELVIHI GWIISNNPEL FSGMLKIRIG WIIHAMEYEL QIRGGDKPAL DLYQLSPSEV 910 920 930 940 950 960 KQLLLDILQP QQNGRCWLNR RQIDGSLNRT PTGFYDRVWQ ILERTPNGII VAGKHLPQQP 970 980 990 1000 1010 1020 TLSDMTMYEM NFSLLVEDTL GNIDQPQYRQ IVVELLMVVS IVLERNPELE FQDKVDLDRL 1030 1040 1050 1060 1070 1080 VKEAFNEFQK DQSRLKEIEK QDDMTSFYNT PPLGKRGTCS YLTKAVMNLL LEGEVKPNND DPCLIS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB)." Wuellrich-Schmoll A., Kilimann M.W. Eur. J. Biochem. 238:374-380(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], ALTERNATIVE SPLICING.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Uterus.
[3]	"A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[4]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[5]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-27, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[6]	"Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2 (ISOFORMS 2 AND 4), PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-4 (ISOFORMS 2 AND 4), MASS SPECTROMETRY, CLEAVAGE OF INITIATOR METHIONINE. Tissue: Cervix carcinoma.
[8]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]	"Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB)." van den Berg I.E.T., van Beurden E.A.C.M., de Klerk J.B.C., van Diggelen O.P., Malingre H.E.M., Boer M.M., Berger R. Am. J. Hum. Genet. 61:539-546(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CYS-770.
[10]	"Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB)." Burwinkel B., Moses S.W., Kilimann M.W. Hum. Genet. 101:170-174(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GSD9B PRO-118.
[11]	"Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases." Burwinkel B., Hu B., Schroers A., Clemens P.R., Moses S.W., Shin Y.S., Pongratz D., Vorgerd M., Kilimann M.W. Eur. J. Hum. Genet. 11:516-526(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LYS-657 AND CYS-770.
[12]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] VAL-867 AND ARG-877.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	X84909 , X84911, X84912, X84913, X84914, X84915, X84916, X84917, X84918, X84919, X84920, X84921, X84922, X84923, X84924, X84925, X84926, X84927, X84928, X84929, X84930, X84931, X84933, X84934, X84935, X84936, X84937, X84938 Genomic DNA. Translation: CAA59333.1. X84908 mRNA. Translation: CAA59332.1. BC033657 mRNA. Translation: AAH33657.1.
IPI	IPI00181893. IPI00218571. IPI00514085. IPI00514327.
PIR	S74250. S74251.
RefSeq	NP_000284.1. NM_000293.2. NP_001027005.1. NM_001031835.2.
UniGene	Hs.78060.
3D structure databases
ProteinModelPortal	Q93100.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q93100. 4 interactions.
MINT	MINT-1444943.
STRING	9606.ENSP00000313504.
PTM databases
PhosphoSite	Q93100.
Polymorphism databases
DMDM	2499582.
Proteomic databases
PaxDb	Q93100.
PRIDE	Q93100.
Protocols and materials databases
DNASU	5257.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000299167; ENSP00000299167; ENSG00000102893. ENST00000323584; ENSP00000313504; ENSG00000102893. ENST00000455779; ENSP00000414345; ENSG00000102893. ENST00000566044; ENSP00000456729; ENSG00000102893.
GeneID	5257.
KEGG	hsa:5257.
UCSC	uc002eeu.4. human. uc002eev.4. human.
Organism-specific databases
CTD	5257.
GeneCards	GC16P047436.
HGNC	HGNC:8927. PHKB.
MIM	172490. gene. 261750. phenotype.
neXtProt	NX_Q93100.
Orphanet	79240. Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency.
PharmGKB	PA33268.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG82518.
HOGENOM	HOG000231477.
HOVERGEN	HBG097309.
InParanoid	Q93100.
KO	K07190.
OMA	SNQGPLE.
OrthoDB	EOG44BB1G.
PhylomeDB	Q93100.
Enzyme and pathway databases
BioCyc	MetaCyc:HS02424-MONOMER.
Reactome	REACT_111217. Metabolism.
UniPathway	UPA00163.
Gene expression databases
ArrayExpress	Q93100.
Bgee	Q93100.
CleanEx	HS_PHKB.
Genevestigator	Q93100.
Family and domain databases
InterPro	IPR008928. 6-hairpin_glycosidase-like. IPR011613. Glyco_hydro_15. IPR008734. PHK_A/B_su. [Graphical view]
PANTHER	PTHR10749. PTHR10749. 1 hit.
Pfam	PF00723. Glyco_hydro_15. 1 hit. [Graphical view]
SUPFAM	SSF48208. Glyco_trans_6hp. 1 hit.
ProtoNet	Search...
Other
BindingDB	Q93100.
ChEMBL	CHEMBL3844.
ChiTaRS	PHKB. human.
GenomeRNAi	5257.
NextBio	20308.
SOURCE	Search...

Entry information

Entry name

KPBB_HUMAN

Accession

Primary (citable) accession number: Q93100
Secondary accession number(s): Q8N4T5

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 126 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.