KEGG   Homo sapiens (human): 5256Help
Entry
5256              CDS       T01001                                 

Gene name
PHKA2, GSD9A, PHK, PYK, PYKL, XLG, XLG2
Definition
(RefSeq) phosphorylase kinase regulatory subunit alpha 2
  KO
K07190  phosphorylase kinase alpha/beta subunit
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04910  Insulin signaling pathway
hsa04922  Glucagon signaling pathway
Disease
H00069  Glycogen storage diseases (GSD)
H01760  Hepatic glycogen storage disease
H01948  Glycogen storage disease type IX
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04020 Calcium signaling pathway
    5256 (PHKA2)
 Organismal Systems
  Endocrine system
   04910 Insulin signaling pathway
    5256 (PHKA2)
   04922 Glucagon signaling pathway
    5256 (PHKA2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Glyco_hydro_15
Motif
Other DBs
NCBI-GeneID: 5256
NCBI-ProteinID: NP_000283
OMIM: 300798
HGNC: 8926
Ensembl: ENSG00000044446
Vega: OTTHUMG00000021222
Pharos: P46019(Tbio)
UniProt: P46019
Position
Xp22.13
AA seq 1235 aa AA seqDB search
MRSRSNSGVRLDGYARLVQQTILCYQNPVTGLLSASHEQKDAWVRDNIYSILAVWGLGMA
YRKNADRDEDKAKAYELEQNVVKLMRGLLQCMMRQVAKVEKFKHTQSTKDSLHAKYNTAT
CGTVVGDDQWGHLQVDATSLFLLFLAQMTASGLRIIFTLDEVAFIQNLVFYIEAAYKVAD
YGMWERGDKTNQGIPELNASSVGMAKAALEAIDELDLFGAHGGRKSVIHVLPDEVEHCQS
ILFSMLPRASTSKEIDAGLLSIISFPAFAVEDVNLVNVTKNEIISKLQGRYGCCRFLRDG
YKTPREDPNRLHYDPAELKLFENIECEWPVFWTYFIIDGVFSGDAVQVQEYREALEGILI
RGKNGIRLVPELYAVPPNKVDEEYKNPHTVDRVPMGKVPHLWGQSLYILSSLLAEGFLAA
GEIDPLNRRFSTSVKPDVVVQVTVLAENNHIKDLLRKHGVNVQSIADIHPIQVQPGRILS
HIYAKLGRNKNMNLSGRPYRHIGVLGTSKLYVIRNQIFTFTPQFTDQHHFYLALDNEMIV
EMLRIELAYLCTCWRMTGRPTLTFPISRTMLTNDGSDIHSAVLSTIRKLEDGYFGGARVK
LGNLSEFLTTSFYTYLTFLDPDCDEKLFDNASEGTFSPDSDSDLVGYLEDTCNQESQDEL
DHYINHLLQSTSLRSYLPPLCKNTEDRHVFSAIHSTRDILSVMAKAKGLEVPFVPMTLPT
KVLSAHRKSLNLVDSPQPLLEKVPESDFQWPRDDHGDVDCEKLVEQLKDCSNLQDQADIL
YILYVIKGPSWDTNLSGQHGVTVQNLLGELYGKAGLNQEWGLIRYISGLLRKKVEVLAEA
CTDLLSHQKQLTVGLPPEPREKIISAPLPPEELTKLIYEASGQDISIAVLTQEIVVYLAM
YVRAQPSLFVEMLRLRIGLIIQVMATELARSLNCSGEEASESLMNLSPFDMKNLLHHILS
GKEFGVERSVRPIHSSTSSPTISIHEVGHTGVTKTERSGINRLRSEMKQMTRRFSADEQF
FSVGQAASSSAHSSKSARSSTPSSPTGTSSSDSGGHHIGWGERQGQWLRRRRLDGAINRV
PVGFYQRVWKILQKCHGLSIDGYVLPSSTTREMTPHEIKFAVHVESVLNRVPQPEYRQLL
VEAIMVLTLLSDTEMTSIGGIIHVDQIVQMASQLFLQDQVSIGAMDTLEKDQATGICHFF
YDSAPSGAYGTMTYLTRAVASYLQELLPNSGCQMQ
NT seq 3708 nt NT seq  +upstreamnt  +downstreamnt
atgcggagcaggagcaattccggggtccgcttggacgggtacgcgcggctggtgcagcaa
accatcctgtgttaccagaatcccgtcacggggctgctgtcagccagccatgagcagaag
gatgcctgggtgcgggataacatctacagtatcctggccgtgtggggcctgggcatggcc
taccgtaagaatgcagaccgcgatgaggacaaggccaaggcctacgagctggagcagaac
gtggtgaagctgatgcgaggtcttctccagtgcatgatgagacaggtggccaaagtggag
aagttcaaacacactcagagcaccaaggacagcctgcacgccaagtacaacaccgccacc
tgtggcacggtggtgggcgacgaccagtggggccacctccaggtggatgccacctctctc
ttcctcctgttcctggcccagatgaccgcctcaggcttacgtatcattttcactctcgat
gaggtggccttcatacagaatcttgtcttttacatagaagctgcatataaagtcgctgat
tatggaatgtgggagcgtggagataagactaatcagggcatcccggaattgaatgcaagc
tccgtaggaatggccaaggcagctcttgaggcaattgatgaactggacctttttggagcc
catggaggacgcaagtcagtgattcatgttctgccagatgaggtcgagcactgccagtct
attctgttctccatgctgccaagagcgtcgacatctaaagaaattgatgctggacttctt
tccattatttccttcccggcctttgcagtggaagatgtaaaccttgtaaatgtgaccaaa
aatgaaattatttctaagctccaggggcgttatggatgctgtcgcttccttcgagatggt
tataaaactccaagagaggaccctaatcgactgcattatgaccctgctgaactcaagctc
ttcgaaaacattgaatgtgagtggcctgtgttttggacatattttataatagatggagtc
ttcagtggtgatgctgttcaggtccaagaataccgagaggccctggagggaatactcatc
agaggcaagaatgggatccgcctggtgcctgaactctacgctgtcccgcctaacaaggta
gatgaagagtacaagaatcctcacacagtagaccgagttcctatggggaaggtgcctcat
ctgtggggccaatccttgtacatcctcagctcgctgttggcagagggattccttgccgct
ggtgaaatcgatcccttaaatagaagattttccacttcagtcaaacctgatgttgtagta
caagttactgttttggcagaaaacaatcacattaaggacttattgaggaaacacggggtg
aacgtccagagtatcgcggacattcatccaattcaagtccagccgggccggattcttagt
cacatatatgccaagcttggacggaataagaatatgaatttgagtgggcgaccgtatcga
catattggtgtccttggaacctctaaactatatgtgattaggaaccaaatctttactttt
acaccccagttcaccgaccagcatcacttctacctggccctcgacaatgagatgatcgtg
gagatgctaaggatcgagctggcctacctgtgcacctgctggaggatgacgggcagaccc
acactcaccttccccatcagtcgcaccatgctcacaaatgatggctcagacattcattct
gctgtgctctccacaattagaaaactagaggatggatattttggaggagccagagtaaaa
ttagggaacctttcggaatttctcaccacatcgttctacacatatctgacttttctggat
ccagactgtgatgagaagttgtttgacaatgccagcgaagggactttcagtcctgatagt
gattcagatttggtaggatatctggaagacacctgtaatcaagaaagccaagacgaactt
gaccattatatcaaccaccttctgcaaagcacatcgttgaggtcctatctgcctcctctt
tgtaagaacacagaagaccgccatgtcttcagtgctatccactccacgcgggacatactt
tctgtgatggcaaaagcaaagggtttggaagttccatttgttcccatgactttgccgact
aaagttctaagtgcccaccgtaaatcactgaatcttgttgattctcctcagccactccta
gaaaaggttcctgaaagtgactttcagtggcccagagatgaccatggtgacgtggactgt
gagaagctggttgagcagctaaaagattgttcgaacctacaggaccaagcagacattctg
tacattctttatgtcataaagggtcccagctgggacacaaatctctctggacagcacggg
gtcaccgttcaaaaccttcttggtgagctctatgggaaagccggcttgaaccaggagtgg
ggtctgattcgctacatctcaggccttctcaggaagaaagtggaggtcctggctgaggcc
tgcacagacctgctttcgcaccagaagcagctcaccgtgggcctgccgcccgagccccgg
gagaagatcatctctgcgccccttcccccagaggagctcacaaaactcatctacgaggcc
agtgggcaggacatcagcattgccgtcctcacgcaggagattgtggtttacctggccatg
tatgtcagggcgcagcccagcctctttgtggagatgctgagactccggattggactgatc
attcaggtgatggccacggagctggcacggagcctgaactgctcaggagaagaggcttct
gaaagtttgatgaacctcagccctttcgatatgaaaaatctcctgcaccatattctaagt
gggaaagagtttggcgttgaaagaagtgtgcgccctatccactcctccacatccagccct
accatctccatccacgaggtgggccataccggagtcaccaaaactgagaggagtggcatt
aacagactgaggagtgaaatgaaacagatgactaggcggtttagtgctgatgaacagttc
ttttctgtgggccaggccgcgtccagcagtgcgcattcctccaagtctgcgaggtccagc
accccatcctcgcccactggcacgtcatcctcagactcgggaggacatcacatcggctgg
ggtgagcggcagggccagtggctgcgcaggagaaggctggatggggccatcaacagggtc
cccgtgggattctaccagagggtgtggaagatcctccagaagtgccacggtctctccatc
gatggttatgtcctcccatcctcgacgacccgagagatgaccccgcatgagatcaagttt
gctgtccatgtcgaatcggtgctgaaccgcgtgccgcagcccgagtaccggcagctgctg
gtggaagccatcatggtgctgacgctgctctcggacacggagatgaccagcatcgggggc
atcatccacgtggaccagatcgtgcagatggccagtcagctgttcttgcaggaccaggtg
tcaattggtgccatggacaccctggagaaagaccaagccacaggaatctgccacttcttt
tatgacagcgctccgagtggggcttatgggacgatgacctacctaacaagagcagtggct
tcttatttgcaggaattgttgcccaattcgggctgccagatgcaatag

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