Homo sapiens (human): 50628
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
TPR_Edg1
Motif
Other DBs
NCBI-GeneID:
50628
NCBI-ProteinID:
NP_056536
OMIM:
606969
HGNC:
15717
Ensembl:
ENSG00000179409
UniProt:
P57678
Q8WUM5
LinkDB
All DBs
Position
17:complement(744421..754410)
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AA seq
1058 aa
AA seq
DB search
MDLGPLNICEEMTILHGGFLLAEQLFHPKALAELTKSDWERVGRPIVEALREISSAAAHS
QPFAWKKKALIIIWAKVLQPHPVTPSDTETRWQEDLFFSVGNMIPTINHTILFELLKSLE
ASGLFIQLLMALPTTICHAELERFLEHVTVDTSAEDVAFFLDVWWEVMKHKGHPQDPLLS
QFSAMAHKYLPALDEFPHPPKRLRSDPDACPTMPLLAMLLRGLTQIQSRILGPGRKCCAL
ANLADMLTVFALTEDDPQEVSATVYLDKLATVISVWNSDTQNPYHQQALAEKVKEAERDV
SLTSLAKLPSETIFVGCEFLHHLLREWGEELQAVLRSSQGTSYDSYRLCDSLTSFSQNAT
LYLNRTSLSKEDRQVVSELAECVRDFLRKTSTVLKNRALEDITASIAMAVIQQKMDRHME
VCYIFASEKKWAFSDEWVACLGSNRALFRQPDLVLRLLETVIDVSTADRAIPESQIRQVI
HLILECYADLSLPGKNKVLAGILRSWGRKGLSEKLLAYVEGFQEDLNTTFNQLTQSASEQ
GLAKAVASVARLVIVHPEVTVKKMCSLAVVNLGTHKFLAQILTAFPALRFVEEQGPNSSA
TFMVSCLKETVWMKFSTPKEEKQFLELLNCLMSPVKPQGIPVAALLEPDEVLKEFVLPFL
RLDVEEVDLSLRIFIQTLEANACREEYWLQTCSPFPLLFSLCQLLDRFSKYWQLPKEKRC
LSLDRKDLAIHILELLCEIVSANAETFSPDVWIKSLSWLHRKLEQLDWTVGLRLKSFFEG
HFKCEVPATLFEICKLSEDEWTSQAHPGYGAGTGLLAWMECCCVSSGISERMLSLLVVDV
GNPEEVRLFSKGFLVALVQVMPWCSPQEWQRLHQLTRRLLEKQLLHVPYSLEYIQFVPLL
NLKPFAQELQLSVLFLRTFQFLCSHSCRDWLPLEGWNHVVKLLCGSLTRLLDSVRAIQAA
GPWVQGPEQDLTQEALFVYTQVFCHALHIMAMLHPEVCEPLYVLALETLTCYETLSKTNP
SVSSLLQRAHEQRFLKSIAEGIGPEERRQTLLQKMSSF
NT seq
3177 nt
NT seq
+upstream
nt +downstream
nt
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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integrated database retrieval system
