Phka1 (phosphorylase kinase regulatory subunit alpha 1) - Rat Genome Database

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Gene: Phka1 (phosphorylase kinase regulatory subunit alpha 1) Chinchilla lanigera
Analyze
Symbol: Phka1
Name: phosphorylase kinase regulatory subunit alpha 1
RGD ID: 8825850
Description: INVOLVED IN positive regulation of glycogen catabolic process (ortholog); protein autophosphorylation (ortholog); PARTICIPATES IN glycogen degradation pathway; ASSOCIATED WITH autistic disorder (ortholog); autosomal hemophilia A (ortholog); Cornelia de Lange syndrome 5 (ortholog); FOUND IN phosphorylase kinase complex (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform; phosphorylase kinase, alpha 1 (muscle)
RGD Orthologs
Human
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: ChiLan1.0 - Chinchilla ChiLan1.0 Assembly
Position:
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547512,020,629 - 12,172,443 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547512,020,278 - 12,172,427 (-)NCBIChiLan1.0ChiLan1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
1 to 12 of 12 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Phka1Chinchillaautistic disorder  ISOPHKA1 (Homo sapiens)8554872ClinVar Annotator: match by term: AutismClinVarPMID:21681106 and PMID:30208311
Phka1Chinchillaautosomal hemophilia A  ISOPHKA1 (Homo sapiens)8554872ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA AClinVarPMID:31690835
Phka1ChinchillaCornelia de Lange syndrome 5  ISOPHKA1 (Homo sapiens)8554872ClinVar Annotator: match by term: Cornelia de Lange syndrome 5ClinVarPMID:24403048 and PMID:25741868
Phka1Chinchillafactor VIII deficiency  ISOPHKA1 (Homo sapiens)8554872ClinVar Annotator: match by term: Factor 8 deficiency and congenitalClinVarPMID:31690835
Phka1Chinchillagenetic disease  ISOPHKA1 (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 and PMID:28492532
Phka1Chinchillaglycogen storage disease IXD  ISOPHKA1 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:12825073 more ...
Phka1Chinchillaintestinal volvulus  ISOPHKA1 (Homo sapiens)8554872ClinVar Annotator: match by term: INTESTINAL MALROTATION and FAMILIALClinVarPMID:25741868
Phka1Chinchillaneuropathy  ISOPHKA1 (Homo sapiens)8554872ClinVar Annotator: match by term: Peripheral neuropathyClinVarPMID:25741868
Phka1Chinchillaperipheral nervous system disease  ISOPHKA1 (Homo sapiens)8554872ClinVar Annotator: match by term: Peripheral neuropathyClinVarPMID:25741868
Phka1Chinchillasyndromic X-linked intellectual disability Lubs type  ISOPHKA1 (Homo sapiens)8554872ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs typeClinVarPMID:25741868
Phka1ChinchillaVolvulus Of Midgut  ISOPHKA1 (Homo sapiens)8554872ClinVar Annotator: match by term: Volvulus of midgutClinVarPMID:25741868
Phka1ChinchillaX-linked spinocerebellar ataxia 1  ISOPHKA1 (Homo sapiens)8554872ClinVar Annotator: match by term: Spinocerebellar ataxia and X-linkedClinVarPMID:26242992 and PMID:28492532
1 to 12 of 12 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Phka1Chinchillaglycogen storage disease IXD  ISOPHKA1 (Homo sapiens)7240710 OMIM 


Biological Process

  

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Phka1Chinchillaphosphorylase kinase complex  ISOPhka1 (Rattus norvegicus)9068941 RGDPMID:3953807 and REF_RGD_ID:2305955

Molecular Function

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Phka1Chinchillaprotein binding enablesISOUniProtKB:Q9UGJ1-29068941 PMID:32296183IntActPMID:32296183

RGD Manual Annotations


  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Phka1Chinchillaglycogen degradation pathway   ISOPHKA1 (Homo sapiens)9068941 RGDPMID:10487978 and REF_RGD_ID:2305981

#
Reference Title
Reference Citation
1. Transitive Annotation Pipeline Automated assignment of GO, PW and RDO ISO annotations across species
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
PMID:30032202  



Phka1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547512,020,629 - 12,172,443 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547512,020,278 - 12,172,427 (-)NCBIChiLan1.0ChiLan1.0
PHKA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X72,578,814 - 72,714,306 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX72,578,814 - 72,714,319 (-)EnsemblGRCh38hg38GRCh38
GRCh37X71,798,664 - 71,934,154 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X71,717,203 - 71,850,612 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X71,583,501 - 71,716,903NCBI
CeleraX72,141,887 - 72,277,747 (-)NCBICelera
Cytogenetic MapXq13.1NCBI
HuRefX65,553,170 - 65,688,660 (-)NCBIHuRef
CHM1_1X71,691,651 - 71,827,294 (-)NCBICHM1_1
T2T-CHM13v2.0X71,011,736 - 71,147,907 (-)NCBIT2T-CHM13v2.0
Phka1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X101,557,581 - 101,687,907 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX101,557,581 - 101,687,852 (-)EnsemblGRCm39 Ensembl
GRCm38X102,513,975 - 102,644,301 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX102,513,975 - 102,644,246 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X99,709,314 - 99,839,585 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X98,718,393 - 98,846,917 (-)NCBIMGSCv36mm8
CeleraX89,425,232 - 89,555,150 (-)NCBICelera
Cytogenetic MapXDNCBI
cM MapX45.47NCBI
Phka1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X71,639,701 - 71,778,465 (-)NCBIGRCr8
mRatBN7.2X67,601,302 - 67,738,504 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX67,601,302 - 67,738,455 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX69,084,656 - 69,221,526 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X72,584,887 - 72,721,763 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X70,146,037 - 70,282,911 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X72,377,020 - 72,515,385 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX72,377,021 - 72,515,366 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X73,218,886 - 73,356,004 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X90,553,527 - 90,692,073 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X90,626,959 - 90,765,506 (-)NCBI
CeleraX67,954,686 - 68,091,557 (-)NCBICelera
Cytogenetic MapXq22NCBI
PHKA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X72,255,291 - 72,386,081 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X72,258,746 - 72,389,672 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X61,816,613 - 61,949,179 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X71,900,762 - 72,033,055 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX71,900,762 - 72,033,055 (-)Ensemblpanpan1.1panPan2
PHKA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X56,579,538 - 56,758,293 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX56,581,435 - 56,757,905 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX47,405,712 - 47,585,405 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X57,633,970 - 57,778,843 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX57,633,970 - 57,778,287 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X55,549,695 - 55,732,132 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X56,945,562 - 57,125,410 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X56,794,558 - 56,974,936 (-)NCBIUU_Cfam_GSD_1.0
Phka1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X45,213,224 - 45,321,344 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367621,657,781 - 1,766,605 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367621,657,778 - 1,766,592 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PHKA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX58,455,939 - 58,583,216 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X58,456,097 - 58,583,216 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X66,182,346 - 66,288,186 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PHKA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X62,397,726 - 62,528,695 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX62,397,739 - 62,528,708 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660654,273,916 - 4,405,596 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Phka1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249032,857,378 - 3,068,534 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249032,859,252 - 3,068,516 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.






Ensembl Acc Id: ENSCLAT00000020004   ⟹   ENSCLAP00000019811
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0 EnsemblNW_00495547512,020,629 - 12,172,443 (-)Ensembl
Ensembl Acc Id: ENSCLAT00000020005   ⟹   ENSCLAP00000019812
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0 EnsemblNW_00495547512,020,629 - 12,172,443 (-)Ensembl
Ensembl Acc Id: ENSCLAT00000020006   ⟹   ENSCLAP00000019813
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0 EnsemblNW_00495547512,020,629 - 12,171,950 (-)Ensembl
RefSeq Acc Id: XM_005401691   ⟹   XP_005401748
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495547512,020,278 - 12,172,427 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005401692   ⟹   XP_005401749
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495547512,020,278 - 12,172,427 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005401695   ⟹   XP_005401752
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495547512,020,278 - 12,172,427 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005401696   ⟹   XP_005401753
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495547512,020,278 - 12,172,426 (-)NCBI
Sequence:
RefSeq Acc Id: XM_013502821   ⟹   XP_013358275
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495547512,020,278 - 12,172,427 (-)NCBI
Sequence:
RefSeq Acc Id: XP_005401748   ⟸   XM_005401691
- Peptide Label: isoform X1
- UniProtKB: A0A8C2VXB0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005401753   ⟸   XM_005401696
- Peptide Label: isoform X5
- UniProtKB: A0A8C2VUN2 (UniProtKB/TrEMBL),   A0A8C2VXB0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005401752   ⟸   XM_005401695
- Peptide Label: isoform X4
- UniProtKB: A0A8C2VXB0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005401749   ⟸   XM_005401692
- Peptide Label: isoform X2
- UniProtKB: A0A8C2VZ67 (UniProtKB/TrEMBL),   A0A8C2VXB0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_013358275   ⟸   XM_013502821
- Peptide Label: isoform X3
- UniProtKB: A0A8C2VXB0 (UniProtKB/TrEMBL)
- Sequence:


1 to 22 of 22 rows
Database
Acc Id
Source(s)
Ensembl Genes ENSCLAG00000013584 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCLAT00000020004 ENTREZGENE
  ENSCLAT00000020004.1 UniProtKB/TrEMBL
  ENSCLAT00000020005 ENTREZGENE
  ENSCLAT00000020005.1 UniProtKB/TrEMBL
  ENSCLAT00000020006 ENTREZGENE
  ENSCLAT00000020006.1 UniProtKB/TrEMBL
Gene3D-CATH 1.50.10.10 UniProtKB/TrEMBL
InterPro 6-hairpin_glycosidase_sf UniProtKB/TrEMBL
  6hp_glycosidase-like_sf UniProtKB/TrEMBL
  GH15-like UniProtKB/TrEMBL
  KPBA/B_C UniProtKB/TrEMBL
  PHK_A/B_su UniProtKB/TrEMBL
NCBI Gene Phka1 ENTREZGENE
PANTHER PHOSPHORYLASE B KINASE REGULATORY SUBUNIT ALPHA, SKELETAL MUSCLE ISOFORM UniProtKB/TrEMBL
  PTHR10749 UniProtKB/TrEMBL
Pfam Glyco_hydro_15 UniProtKB/TrEMBL
  KPBB_C UniProtKB/TrEMBL
Superfamily-SCOP SSF48208 UniProtKB/TrEMBL
UniProt A0A8C2VUN2 ENTREZGENE, UniProtKB/TrEMBL
  A0A8C2VXB0 ENTREZGENE, UniProtKB/TrEMBL
  A0A8C2VZ67 ENTREZGENE, UniProtKB/TrEMBL
1 to 22 of 22 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-03 Phka1  phosphorylase kinase regulatory subunit alpha 1    phosphorylase kinase, alpha 1 (muscle)  Symbol and/or name change 5135510 APPROVED