KEGG   Homo sapiens (human): 23065
Entry
23065             CDS       T01001                                 
Symbol
EMC1, CAVIPMR, KIAA0090
Name
(RefSeq) ER membrane protein complex subunit 1
  KO
K23562  ER membrane protein complex subunit 1
Organism
hsa  Homo sapiens (human)
Disease
H02274  Cerebellar atrophy, visual impairment, and psychomotor retardation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    23065 (EMC1)
Membrane trafficking [BR:hsa04131]
 Endoplasmic reticulum (ER) - Golgi transport
  Others
   ER membrane protein complex
    23065 (EMC1)
SSDB
Motif
Pfam: EMC1_C PQQ_2 PQQ Kelch_1
Other DBs
NCBI-GeneID: 23065
NCBI-ProteinID: NP_055862
OMIM: 616846
HGNC: 28957
Ensembl: ENSG00000127463
UniProt: Q8N766
Structure
Position
1:complement(19215660..19251524)
AA seq 993 aa
MAAEWASRFWLWATLLIPAAAVYEDQVGKFDWRQQYVGKVKFASLEFSPGSKKLVVATEK
NVIAALNSRTGEILWRHVDKGTAEGAVDAMLLHGQDVITVSNGGRIMRSWETNIGGLNWE
ITLDSGSFQALGLVGLQESVRYIAVLKKTTLALHHLSSGHLKWVEHLPESDSIHYQMVYS
YGSGVVWALGVVPFSHVNIVKFNVEDGEIVQQVRVSTPWLQHLSGACGVVDEAVLVCPDP
SSRSLQTLALETEWELRQIPLQSLDLEFGSGFQPRVLPTQPNPVDASRAQFFLHLSPSHY
ALLQYHYGTLSLLKNFPQTALVSFATTGEKTVAAVMACRNEVQKSSSSEDGSMGSFSEKS
SSKDSLACFNQTYTINLYLVETGRRLLDTTITFSLEQSGTRPERLYIQVFLKKDDSVGYR
ALVQTEDHLLLFLQQLAGKVVLWSREESLAEVVCLEMVDLPLTGAQAELEGEFGKKADGL
LGMFLKRLSSQLILLQAWTSHLWKMFYDARKPRSQIKNEINIDTLARDEFNLQKMMVMVT
ASGKLFGIESSSGTILWKQYLPNVKPDSSFKLMVQRTTAHFPHPPQCTLLVKDKESGMSS
LYVFNPIFGKWSQVAPPVLKRPILQSLLLPVMDQDYAKVLLLIDDEYKVTAFPATRNVLR
QLHELAPSIFFYLVDAEQGRLCGYRLRKDLTTELSWELTIPPEVQRIVKVKGKRSSEHVH
SQGRVMGDRSVLYKSLNPNLLAVVTESTDAHHERTFIGIFLIDGVTGRIIHSSVQKKAKG
PVHIVHSENWVVYQYWNTKARRNEFTVLELYEGTEQYNATAFSSLDRPQLPQVLQQSYIF
PSSISAMEATITERGITSRHLLIGLPSGAILSLPKALLDPRRPEIPTEQSREENLIPYSP
DVQIHAERFINYNQTVSRMRGIYTAPSGLESTCLVVAYGLDIYQTRVYPSKQFDVLKDDY
DYVLISSVLFGLVFATMITKRLAQVKLLNRAWR
NT seq 2982 nt   +upstreamnt  +downstreamnt
atggcggctgagtgggcttctcgtttctggctttgggctacgctgctgattcctgcggcc
gcggtctacgaagaccaagtgggcaagtttgattggagacagcaatatgttgggaaggtc
aagtttgcctccttggaattttcccctggatccaagaagttggttgtagccacagagaag
aatgtgattgcagcattaaattcccgaactggggagatcttgtggcgccatgttgacaag
ggcacggcagaaggggctgtggatgccatgctgctgcacggacaggatgtgatcactgtg
tccaatggaggccgaatcatgcgttcctgggagactaacatcgggggcctgaactgggag
ataaccctggacagtggcagtttccaggcacttgggctggttggcctgcaggagtctgta
aggtacatcgcagtcctgaagaagactacacttgccctccatcacctctccagtgggcac
ctcaagtgggtggaacatctcccagaaagtgacagcatccactaccagatggtgtattct
tacggctctggggtggtgtgggccctcggagttgttcccttcagccatgtgaacattgtc
aagtttaatgtggaagatggagagattgttcagcaggttagggtttcaactccgtggctg
cagcacctgtctggagcctgtggtgtggtggatgaggctgtcctggtgtgtcctgacccg
agctcacgttccctccaaactttggctctggagacggaatgggagttgagacagatccca
ctgcagtctctcgacttagaatttggaagtggattccaaccccgggtcctgcctacccag
cccaacccagtggacgcttcccgggcccagttcttcctgcacttgtccccaagccactat
gctctgctgcagtaccattatggaacgctgagtttgcttaaaaacttcccacagactgcc
ctagtgagctttgccaccactggggagaagacggtggctgcagtcatggcctgtcggaat
gaagtgcagaaaagtagcagttctgaagatgggtcaatggggagcttttcggagaagtct
agttcaaaggactctctggcttgcttcaatcagacctacaccattaacctatacctcgtg
gagacaggtcggcggctgctggacaccacgataacatttagcctggaacagagcggcact
cggcctgagcggctgtatatccaggtgttcttgaagaaggatgactcagtgggctaccgg
gctttggtgcagacagaggatcatctgctacttttcctgcagcagttggcagggaaggtg
gtgctgtggagccgtgaggagtccctggcagaagtggtgtgcctagagatggtggacctc
cccctgactggggcacaggccgagctggaaggagaatttggcaaaaaggcagatggcttg
ctggggatgttcctgaaacgcctctcgtctcagcttatcctgctgcaagcatggacttcc
cacctctggaaaatgttttatgatgctcggaagccccggagtcagattaagaatgagatc
aacattgacaccctggccagagatgaattcaacctccagaagatgatggtgatggtaaca
gcctcaggcaagctttttggcattgagagcagctctggcaccatcctgtggaaacagtat
ctacccaatgtcaagccagactcctcctttaaactgatggtccagagaactactgctcat
ttcccccatcccccacagtgcaccctgctggtgaaggacaaggagtcgggaatgagttct
ctgtatgtcttcaatcccatttttgggaagtggagtcaggtagctcccccagtgctgaag
cgccccatcttgcagtccttgcttctcccagtcatggatcaagactacgccaaggtgttg
ctgttgatagatgatgaatacaaggtcacagcttttccagccactcggaatgtcttgcga
cagctacatgagcttgccccttccatcttcttctatttggtggatgcagagcagggacgg
ctgtgtggatatcggcttcgaaaggatctcaccactgagctgagttgggagctgaccatt
cccccagaagtacagcggatcgtcaaggtgaaggggaaacgcagcagtgagcacgttcat
tcccagggccgtgtgatgggggaccgcagtgtgctctacaagagcctgaaccccaacctg
ctggccgtggtgacagagagcacagacgcgcaccatgagcgcacctttattggcatcttc
ctcattgatggcgtcactgggcgtatcattcactcctctgtgcagaagaaagccaaaggc
cctgtccatatcgtgcattcagagaactgggtggtgtaccagtactggaacaccaaggct
cggcgcaacgagtttaccgtactggagctctatgagggcactgagcaatacaacgccacc
gccttcagctccctggaccgcccccagctgccccaggtcctccagcagtcctatatcttc
ccgtcctccatcagtgccatggaggccaccatcaccgaacggggcatcaccagccgacac
ctgctgattggactaccttctggagcaattctttcccttcctaaggctttgctggatccc
cgccgccccgagatcccaacagaacaaagcagagaggagaacttaatcccgtattctcca
gatgtacagatacacgcagagcgattcatcaactataaccagacagtttctcgaatgcga
ggtatctacacagctccctcgggtctggagtccacttgtttggttgtggcctatggtttg
gacatttaccaaactcgagtctacccatccaagcagtttgacgttctgaaggatgactat
gactacgtgttaatcagcagcgtcctctttggcctggtttttgccaccatgatcactaag
agactggcacaggtgaagctcctgaatcgggcctggcgataa

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