KEGG   Homo sapiens (human): 50628
Entry
50628             CDS       T01001                                 

Symbol
GEMIN4, HC56, HCAP1, HHRF-1, NEDMCR, p97
Name
(RefSeq) gem nuclear organelle associated protein 4
  KO
K13132  gem associated protein 4
Organism
hsa  Homo sapiens (human)
Disease
H02461  Neurodevelopmental disorder with microcephaly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    50628 (GEMIN4)
Spliceosome [BR:hsa03041]
 Other splicing related proteins
  Proteins involved in snRNP biogenesis
   SMN complex factors
    50628 (GEMIN4)
SSDB
Other DBs
NCBI-GeneID: 50628
NCBI-ProteinID: NP_056536
OMIM: 606969
HGNC: 15717
Ensembl: ENSG00000179409
Vega: OTTHUMG00000177495
Pharos: P57678(Tbio)
UniProt: P57678 Q8WUM5
Position
17p13.3
AA seq 1058 aa
MDLGPLNICEEMTILHGGFLLAEQLFHPKALAELTKSDWERVGRPIVEALREISSAAAHS
QPFAWKKKALIIIWAKVLQPHPVTPSDTETRWQEDLFFSVGNMIPTINHTILFELLKSLE
ASGLFIQLLMALPTTICHAELERFLEHVTVDTSAEDVAFFLDVWWEVMKHKGHPQDPLLS
QFSAMAHKYLPALDEFPHPPKRLRSDPDACPTMPLLAMLLRGLTQIQSRILGPGRKCCAL
ANLADMLTVFALTEDDPQEVSATVYLDKLATVISVWNSDTQNPYHQQALAEKVKEAERDV
SLTSLAKLPSETIFVGCEFLHHLLREWGEELQAVLRSSQGTSYDSYRLCDSLTSFSQNAT
LYLNRTSLSKEDRQVVSELAECVRDFLRKTSTVLKNRALEDITASIAMAVIQQKMDRHME
VCYIFASEKKWAFSDEWVACLGSNRALFRQPDLVLRLLETVIDVSTADRAIPESQIRQVI
HLILECYADLSLPGKNKVLAGILRSWGRKGLSEKLLAYVEGFQEDLNTTFNQLTQSASEQ
GLAKAVASVARLVIVHPEVTVKKMCSLAVVNLGTHKFLAQILTAFPALRFVEEQGPNSSA
TFMVSCLKETVWMKFSTPKEEKQFLELLNCLMSPVKPQGIPVAALLEPDEVLKEFVLPFL
RLDVEEVDLSLRIFIQTLEANACREEYWLQTCSPFPLLFSLCQLLDRFSKYWQLPKEKRC
LSLDRKDLAIHILELLCEIVSANAETFSPDVWIKSLSWLHRKLEQLDWTVGLRLKSFFEG
HFKCEVPATLFEICKLSEDEWTSQAHPGYGAGTGLLAWMECCCVSSGISERMLSLLVVDV
GNPEEVRLFSKGFLVALVQVMPWCSPQEWQRLHQLTRRLLEKQLLHVPYSLEYIQFVPLL
NLKPFAQELQLSVLFLRTFQFLCSHSCRDWLPLEGWNHVVKLLCGSLTRLLDSVRAIQAA
GPWVQGPEQDLTQEALFVYTQVFCHALHIMAMLHPEVCEPLYVLALETLTCYETLSKTNP
SVSSLLQRAHEQRFLKSIAEGIGPEERRQTLLQKMSSF
NT seq 3177 nt   +upstreamnt  +downstreamnt
atggacctaggacccttgaacatctgtgaagaaatgactattctgcatggaggcttcttg
ctggccgagcagctgttccaccctaaggcactggcagaattaacaaagtctgactgggaa
cgtgttggacggcccatcgtggaggccttaagggagatctcctcggctgcagcacactcc
cagccctttgcctggaagaagaaagccctgatcatcatctgggccaaggttctgcagccg
caccccgtgaccccgtccgacacagagacacggtggcaggaagacctgttcttctcggtg
ggcaacatgatccccaccatcaaccacaccatcctcttcgagctgctcaaatccctggaa
gcttctggactctttatccagctcctgatggccctgcccaccaccatctgccatgcagaa
ctagagcgctttctggaacatgtgaccgttgacacttctgccgaagacgtggccttcttc
ctggacgtctggtgggaggtgatgaagcacaagggtcacccgcaggaccccctgctctcc
cagtttagtgcaatggcccataagtacctgcctgccttagatgagttcccccatcctcca
aagaggcttaggtcagacccagacgcgtgccccaccatgcccctgttggccatgctgctc
cgcgggctgacacagatccagagtcggatcctgggcccggggaggaagtgctgtgcgctg
gccaacctggctgacatgctgactgtgtttgcgctgacagaggacgacccccaggaggtg
tctgcaaccgtgtatctggacaaactggccacggtgatctctgtgtggaactcggacacc
cagaatccctaccaccagcaggcgctggcagagaaggtgaaggaggcagaacgggatgtc
agcctgacctcgctggccaaactccccagtgagaccattttcgtgggctgcgagttcctg
caccacctgctgcgggagtggggggaggagttgcaggccgtgctccgcagcagccagggg
acaagttacgacagctaccggctgtgcgacagtctgacttccttcagccagaacgcgacg
ctctacctgaaccgcaccagcctgtccaaggaggacaggcaggtggtctctgagctggcg
gagtgtgtcagggacttcctgaggaaaacgagcacggtgctgaagaacagggccttggag
gatatcacagcttccattgccatggccgtcatccagcagaagatggaccgccatatggaa
gtgtgctacatttttgcctctgagaagaagtgggccttctcggacgagtgggtagcctgc
ctggggagtaacagggccctcttccgacagccagacttggtgttgaggctgctggaaaca
gtgatagacgtcagcacagctgacagagccatccctgagtctcagatccggcaggtgatc
cacctgatcctggaatgttacgcagacctctccctgccaggtaaaaataaagtccttgca
ggtatcctgcgttcctgggggcgaaagggcctctctgaaaagttgctggcttatgtggag
ggttttcaggaagacctcaatacaacttttaaccagctcactcagagtgcctccgaacag
ggcttggcaaaagctgtggcctccgtggcccgcctggtcatagtgcacccggaagtcacg
gtgaagaaaatgtgcagcctggctgtggtcaatctcggcacccacaagttcctggcccag
attctcactgccttccctgcccttaggtttgtggaagagcagggtcccaattcatctgcc
actttcatggtgtcatgcctcaaagaaaccgtctggatgaagttctctacacccaaggaa
gaaaagcaatttttagagctcctgaactgcctgatgagtcccgtgaaaccccaagggatt
ccagtggctgctcttcttgagccagacgaggtgctgaaggaatttgtcctgcctttcttg
aggttagatgttgaagaggtagacctcagtctgaggatcttcatccagactctagaggca
aacgcgtgccgagaggaatactggctccagacctgctccccgtttccactcctcttcagc
ttgtgccagctcttggaccgcttcagcaaatactggcagcttcccaaggagaagcggtgc
ctctctttggataggaaggatctagcgatccatatcctggagctcctgtgtgagattgta
tcagccaatgctgagaccttctccccggatgtctggatcaagtccctgtcctggctccac
cgcaagttagaacagctagactggactgtgggcctgaggctgaagagcttcttcgagggg
cacttcaagtgtgaagtgccagccacactttttgagatctgtaagctttcagaagacgag
tggacctcccaggcccacccagggtacggggctggcacggggctcctggcctggatggag
tgctgctgcgtctccagcggcatctcggagaggatgctgtctctcttggtggtggacgtg
ggcaatcctgaggaggtcagactgttcagcaaaggctttctggtggccctggtgcaagtc
atgccttggtgcagccctcaggagtggcagcgccttcaccagctgaccaggagactgctg
gagaagcagctcctccatgtcccttatagcctggaatatattcagtttgttcccctgctc
aacctgaagccctttgcccaggagttgcaactctccgtcctcttcctgaggactttccag
tttctctgcagccatagctgtcgtgattggcttcctctggaaggctggaaccacgtggtc
aaactcctctgtggcagtctgacccgcctcctggactcagtcagggcgatacaggcagct
ggcccttgggttcaaggaccagagcaggacctgacccaggaagccctgtttgtttacacc
caggtgttctgccatgctctgcacatcatggccatgctccacccggaggtctgtgagcca
ctctacgttttagccttggaaaccctcacctgctatgagactttgagcaagaccaaccct
tctgtcagctccttgctccagagggcacacgagcagcgcttcttaaagtccattgctgag
ggcatcggccctgaagaacggcgccaaaccctgttgcagaagatgagcagcttctga

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