Basic information
Official Symbol PSMC1
Descriptionproteasome (prosome, macropain) 26S subunit, ATPase, 1
Other AliasesP26S4, S4, p56
Other Description26S protease regulatory subunit 4; 26S proteasome AAA-ATPase subunit RPT2; proteasome 26S ATPase subunit 1; proteasome 26S subunit ATPase 1; proteasome 26S subunit, ATPase, 1
Mutation typeInsert and frame-shift 263-264:G-P^TGGG, Insert and frame-shift 409-410:E-R^TA, Insert and frame-shift 41-42:K-G^GAAG, Insert and frame-shift 419-420:F-K^A, Insert and frame-shift 72-73:L-L^C, premature termination 62:L->TGA
LocationScaffold139943_1:2462608 2463915 +

  ±  bp flank
WikiWikipedia GeneCard
Sequence
PSMC1
ATGGGTCAAAGTCAGAGTGGCGGTCATAGTACTGGAGGTGGAAAGAAGGA
TGACAAGGACAAGAAAAAGAAGTATGAATCTCCTGTCCCAACTAGAGTGG
GGAAACAAAAGAAGGAAACAAAAGGACCAGATGCTACCAGCAAACTGCCA
CTGGTGACACCTCACACACAGTGCCAGTTAAAATGATTGAAATTAGAGAG
AATTAAAGACTACCTTGCATTGGAAGAAGAATTCATTAGAAATCAGGAAC
AGATGAAACCATTAGAAGAAAAGCAAGAGGAGGAAAGATCAAAGGTGGAT
AATCTGAGGGGGACCCCAATGTTAGTAGGAACCTTGGAAGAGATCATTGA
TGACAATCATGCCATCGTGTCTACATCTGTGGGTTCAGAACACCATGTCA
GCATTTTTTCACTTGTAGACAAGGATCTGTTGGAACCAGACTGCTCAGTC
CCATTCAACTACAAGGTGCATGCAGTGATAGGGATGCTGATGGATGACAC
GGATCCCTTGGTCACAGTGACGAAGGTGGAAAGGGCTCTGCAGGATACCT
ATGCCAGTATTGGGGGTTTGGAAAACCAGATCCAGGAGATTAAGGAATCT
GTGGAGCTTCCTCTCACCCATCCTGAATGTTATGAAGAGATGGGTATAAA
GCCCCCCAAGGGGGTCATTCTTTATGGTCCCCCTCACACAGGAAAAACCT
TGTTAGCCAAAGCAGTTGCAAACCAAACTTCAGCCACTTTCTTGAGAGTT
GTTGGCTCTGAACTGATTCAGAAGTACCTGGGTGATGGACCCAAACTTGT
ACGGGAACTCTTTCAAGTTGCTGAAGAGCATGCACCATCCATTGTGTTTA
CTGATGAAATTGATGTGATTGGGACAAAAAGATATGACTCAAATTCTGGT
GGTGAAAGAGAAATTCAGCAAACAATGTTGGAACTGTTGAACCAGCTGGA
TGGATTTGATTCAAGGGGAGATGTGAAAGTTGTTATGGCCACACACCTAA
TAGAGACTTTGGATCCAGTGCTTATTAGACCAGGCTGCATTGACAGGAAG
ATTGAGTTCCCCTTGCCTGATGAAAAGACCAAGGAGCGCATATTTCAGAT
TCACACAAGCAGGATGACGCTGGCCGATGATGTAACCCTGGATGACCTGA
TGATGGCTAAGGATGACCTGTCTGGTGCCGACGTCAAAGCAGTTTGTACA
GAAGCTGGTCTGATGGCCTTGAGAGTACGGAGAATGAAAGTAACAAATGA
AGCCTTCAAAAAATCTAAAGGAAATGTTTTCTTTATGAAACAAGAA

Alignment
Align speciePep lengthPep align beginPep align endMutaion type and postion
Human4401432Insert and frame-shift 263-264:G-P^TGGG, Insert and frame-shift 409-410:E-R^TA, Insert and frame-shift 41-42:K-G^GAAG, Insert and frame-shift 419-420:F-K^A, Insert and frame-shift 72-73:L-L^C, Premature termination 62:L->TGA
 Instructions:
 *** -> premature termination codon;  # -> frame shift 

 Alignment:
 Human     pep sequence --->
 ||||||||||||||||||||||
 Treeshrew pep sequence --->
 Treeshrew cds sequence --->
  
MetGlyGlnSerGlnSerGlyGlyHisGlyProGlyGlyGlyLysLysAspAspLysAspLy
|||||||||||||||||||||||||||      |||||||||||||||||||||||||||||
MetGlyGlnSerGlnSerGlyGlyHisSerThrGlyGlyGlyLysLysAspAspLysAspLy
ATGGGTCAAAGTCAGAGTGGCGGTCATAGTACTGGAGGTGGAAAGAAGGATGACAAGGACAA

sLysLysLysTyrGluProProValProThrArgValGlyLysLysLysLysLysThrLys-
||||||||||||||||   ||||||||||||||||||||||||   ||||||   ||||||#
sLysLysLysTyrGluSerProValProThrArgValGlyLysGlnLysLysGluThrLys#
GAAAAAGAAGTATGAATCTCCTGTCCCAACTAGAGTGGGGAAACAAAAGAAGGAAACAAAAG

---GlyProAspAlaAlaSerLysLeuProLeuValThrProHisThrGlnCysArgLeuLy
###||||||||||||   ||||||||||||||||||||||||||||||||||||   |||||
###GlyProAspAlaThrSerLysLeuProLeuValThrProHisThrGlnCysGlnLeuLy
AAGGGACCAGATGCTACCAGCAAACTGCCACTGGTGACACCTCACACACAGTGCCAGTTAAA

sLeuLeuLysLeuGluArgIleLysAspTyrLeu-LeuMetGluGluGluPheIleArgAsn
|   ||||||||||||||||||||||||||||||#      |||||||||||||||||||||
s***LeuLysLeuGluArgIleLysAspTyrLeu#AlaLeuGluGluGluPheIleArgAsn
ATGATTGAAATTAGAGAGAATTAAAGACTACCTTCGCATTGGAAGAAGAATTCATTAGAAAT

GlnGluGlnMetLysProLeuGluGluLysGlnGluGluGluArgSerLysValAspAspLe
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||   ||
GlnGluGlnMetLysProLeuGluGluLysGlnGluGluGluArgSerLysValAspAsnLe
CAGGAACAGATGAAACCATTAGAAGAAAAGCAAGAGGAGGAAAGATCAAAGGTGGATAATCT

uArgGlyThrProMetSerValGlyThrLeuGluGluIleIleAspAspAsnHisAlaIleV
||||||||||||||||   |||||||||||||||||||||||||||||||||||||||||||
uArgGlyThrProMetLeuValGlyThrLeuGluGluIleIleAspAspAsnHisAlaIleV
GAGGGGGACCCCAATGTTAGTAGGAACCTTGGAAGAGATCATTGATGACAATCATGCCATCG

alSerThrSerValGlySerGluHisTyrValSerIleLeuSerPheValAspLysAspLeu
||||||||||||||||||||||||||   |||||||||   |||   |||||||||||||||
alSerThrSerValGlySerGluHisHisValSerIlePheSerLeuValAspLysAspLeu
TGTCTACATCTGTGGGTTCAGAACACCATGTCAGCATTTTTTCACTTGTAGACAAGGATCTG

LeuGluProGlyCysSerValLeuLeuAsnHisLysValHisAlaValIleGlyValLeuMe
|||||||||   |||||||||      |||   |||||||||||||||||||||   |||||
LeuGluProAspCysSerValProPheAsnTyrLysValHisAlaValIleGlyMetLeuMe
TTGGAACCAGACTGCTCAGTCCCATTCAACTACAAGGTGCATGCAGTGATAGGGATGCTGAT

tAspAspThrAspProLeuValThrValMetLysValGluLysAlaProGlnGluThrTyrA
||||||||||||||||||||||||||||   |||||||||   |||   |||   |||||||
tAspAspThrAspProLeuValThrValThrLysValGluArgAlaLeuGlnAspThrTyrA
GGATGACACGGATCCCTTGGTCACAGTGACGAAGGTGGAAAGGGCTCTGCAGGATACCTATG

laAspIleGlyGlyLeuAspAsnGlnIleGlnGluIleLysGluSerValGluLeuProLeu
||   ||||||||||||   ||||||||||||||||||||||||||||||||||||||||||
laSerIleGlyGlyLeuGluAsnGlnIleGlnGluIleLysGluSerValGluLeuProLeu
CCAGTATTGGGGGTTTGGAAAACCAGATCCAGGAGATTAAGGAATCTGTGGAGCTTCCTCTC

ThrHisProGluTyrTyrGluGluMetGlyIleLysProProLysGlyValIleLeuTyrGl
||||||||||||   |||||||||||||||||||||||||||||||||||||||||||||||
ThrHisProGluCysTyrGluGluMetGlyIleLysProProLysGlyValIleLeuTyrGl
ACCCATCCTGAATGTTATGAAGAGATGGGTATAAAGCCCCCCAAGGGGGTCATTCTTTATGG

yProProGlyThrGlyLysThrLeuLeuAlaLysAlaValAlaAsnGlnThrSerAlaThrP
|||||||   ||||||||||||||||||||||||||||||||||||||||||||||||||||
yProProHisThrGlyLysThrLeuLeuAlaLysAlaValAlaAsnGlnThrSerAlaThrP
TCCCCCTCACACAGGAAAAACCTTGTTAGCCAAAGCAGTTGCAAACCAAACTTCAGCCACTT

heLeuArgValValGlySerGluLeuIleGlnLysTyrLeuGlyAspGly----ProLysLe
||||||||||||||||||||||||||||||||||||||||||||||||||####||||||||
heLeuArgValValGlySerGluLeuIleGlnLysTyrLeuGlyAspGly####ProLysLe
TCTTGAGAGTTGTTGGCTCTGAACTGATTCAGAAGTACCTGGGTGATGGATGGGCCCAAACT

uValArgGluLeuPheArgValAlaGluGluHisAlaProSerIleValPheIleAspGluI
||||||||||||||||   |||||||||||||||||||||||||||||||||   |||||||
uValArgGluLeuPheGlnValAlaGluGluHisAlaProSerIleValPheThrAspGluI
TGTACGGGAACTCTTTCAAGTTGCTGAAGAGCATGCACCATCCATTGTGTTTACTGATGAAA

leAspAlaIleGlyThrLysArgTyrAspSerAsnSerGlyGlyGluArgGluIleGlnArg
|||||   |||||||||||||||||||||||||||||||||||||||||||||||||||   
leAspValIleGlyThrLysArgTyrAspSerAsnSerGlyGlyGluArgGluIleGlnGln
TTGATGTGATTGGGACAAAAAGATATGACTCAAATTCTGGTGGTGAAAGAGAAATTCAGCAA

ThrMetLeuGluLeuLeuAsnGlnLeuAspGlyPheAspSerArgGlyAspValLysValIl
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||  
ThrMetLeuGluLeuLeuAsnGlnLeuAspGlyPheAspSerArgGlyAspValLysValVa
ACAATGTTGGAACTGTTGAACCAGCTGGATGGATTTGATTCAAGGGGAGATGTGAAAGTTGT

eMetAlaThrAsnArgIleGluThrLeuAspProAlaLeuIleArgProGlyArgIleAspA
 |||||||||      ||||||||||||||||||   |||||||||||||||   |||||||
lMetAlaThrHisLeuIleGluThrLeuAspProValLeuIleArgProGlyCysIleAspA
TATGGCCACACACCTAATAGAGACTTTGGATCCAGTGCTTATTAGACCAGGCTGCATTGACA

rgLysIleGluPheProLeuProAspGluLysThrLysLysArgIlePheGlnIleHisThr
||||||||||||||||||||||||||||||||||||||   |||||||||||||||||||||
rgLysIleGluPheProLeuProAspGluLysThrLysGluArgIlePheGlnIleHisThr
GGAAGATTGAGTTCCCCTTGCCTGATGAAAAGACCAAGGAGCGCATATTTCAGATTCACACA

SerArgMetThrLeuAlaAspAspValThrLeuAspAspLeuIleMetAlaLysAspAspLe
||||||||||||||||||||||||||||||||||||||||||   |||||||||||||||||
SerArgMetThrLeuAlaAspAspValThrLeuAspAspLeuMetMetAlaLysAspAspLe
AGCAGGATGACGCTGGCCGATGATGTAACCCTGGATGACCTGATGATGGCTAAGGATGACCT

uSerGlyAlaAspIleLysAlaIleCysThrGluAlaGlyLeuMetAlaLeuArgGlu--Ar
|||||||||||||   ||||||   ||||||||||||||||||||||||||||||   ##||
uSerGlyAlaAspValLysAlaValCysThrGluAlaGlyLeuMetAlaLeuArgVal##Ar
GTCTGGTGCCGACGTCAAAGCAGTTTGTACAGAAGCTGGTCTGATGGCCTTGAGAGTATACG

gArgMetLysValThrAsnGluAspPhe-LysLysSerLysGluAsnValLeuTyrLysLys
||||||||||||||||||||||   |||#||||||||||||   ||||||         |||
gArgMetLysValThrAsnGluAlaPhe#LysLysSerLysGlyAsnValPhePheMetLys
GAGAATGAAAGTAACAAATGAAGCCTTCAAAAAAATCTAAAGGAAATGTTTTCTTTATGAAA

GlnGlu
||||||
GlnGlu
CAAGAA


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