Homo sapiens (human): 54808
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Entry
54808 CDS
T01001
Symbol
DYM, DMC, SMC
Name
(RefSeq) dymeclin
KO
K23951
dymeclin
Organism
hsa
Homo sapiens (human)
Disease
H00757
Dyggve-Melchior-Clausen disease
H02497
Smith-McCort dysplasia
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
54808 (DYM)
Membrane trafficking [BR:
hsa04131
]
Endoplasmic reticulum (ER) - Golgi transport
Others
Others
54808 (DYM)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Dymeclin
Hid1
Bse634I
Motif
Other DBs
NCBI-GeneID:
54808
NCBI-ProteinID:
NP_060123
OMIM:
607461
HGNC:
21317
Ensembl:
ENSG00000141627
UniProt:
Q7RTS9
LinkDB
All DBs
Position
18:complement(49036387..49460645)
Genome browser
AA seq
669 aa
AA seq
DB search
MGSNSSRIGDLPKNEYLKKLSGTESISENDPFWNQLLSFSFPAPTSSSELKLLEEATISV
CRSLVENNPRTGNLGALIKVFLSRTKELKLSAECQNHIFIWQTHNALFIICCLLKVFICQ
MSEEELQLHFTYEEKSPGNYSSDSEDLLEELLCCLMQLITDIPLLDITYEISVEAISTMV
VFLSCQLFHKEVLRQSISHKYLMRGPCLPYTSKLVKTLLYNFIRQEKPPPPGAHVFPQQS
DGGGLLYGLASGVATGLWTVFTLGGVGSKAAASPELSSPLANQSLLLLLVLANLTDASDA
PNPYRQAIMSFKNTQDSSPFPSSIPHAFQINFNSLYTALCEQQTSDQATLLLYTLLHQNS
NIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILK
NITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQY
AAQRIISLFSLLSKKHNKVLEQATQSLRGSLSSNDVPLPDYAQDLNVIEEVIRMMLEIIN
SCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSRLLQAGAELSV
ERVLEIIKQGVVALPKDRLKKFPELKFKYVEEEQPEEFFIPYVWSLVYNSAVGLYWNPQD
IQLFTMDSD
NT seq
2010 nt
NT seq
+upstream
nt +downstream
nt
atgggatcgaatagcagcagaatcggcgatcttcctaaaaatgagtacttgaaaaagtta
tcaggcacggaatctatctctgagaatgacccgttctggaatcagcttctctcattttct
ttccctgcaccaactagcagtagtgagttgaaactcttggaggaagcaaccatttcagtc
tgcaggtcattagttgaaaacaatcctcgaacaggaaatcttggtgcactaattaaggtc
ttcctttctagaaccaaagaactaaaactttcagcagaatgtcagaaccacatcttcatt
tggcagacacacaatgctttgtttattatttgctgtttgctgaaagtgttcatctgtcag
atgtcagaggaggaattacaacttcattttacttatgaagaaaaatctcctggcaattac
agttctgactcagaagatcttttggaagaattgctgtgctgtttgatgcagttgatcact
gatattccactcttagatattacatatgaaatatcagtagaagctatatcaacaatggtt
gttttcctttcctgccaactcttccacaaagaagttttgcgacagagcatcagccacaag
tatttgatgcgaggtccatgtcttccatacaccagcaaacttgtgaagaccttattatat
aactttatcagacaagaaaagccacctcctccaggggcccatgttttccctcagcagtcg
gatgggggaggactgctttatggacttgcatcaggagtagcaacaggactctggactgtc
ttcacactaggtggtgtgggcagcaaagcggctgcctctccagagctttcttcccctctg
gccaaccagagtctcctgcttctgctggtgttggccaatctgacagatgcctcagatgcg
ccaaacccctacagacaagccattatgtccttcaagaacacacaagatagcagtcctttc
ccctcatcaattccacatgccttccagatcaactttaatagtttgtacacagctctttgt
gaacagcagacatctgatcaagcaactctcctcttgtataccttgctccatcaaaatagt
aatattagaacatacatgttggctcgcacagatatggaaaatcttgttttaccaattctt
gagattctgtatcatgttgaagaaaggaattcacaccatgtgtatatggcccttataata
ttgttgatccttacggaagatgatggcttcaacagatccattcatgaagtgatactaaaa
aatattacttggtattcagaacgagttttaactgaaatctccttggggagtctcctgatc
ctggtggtaataagaaccattcaatacaacatgactaggacacgagacaagtaccttcac
acaaattgtttggcagctttagcaaatatgtcggcacagtttcgttctctccatcagtat
gctgcccagaggatcatcagtttattttctttgctgtctaaaaaacacaacaaagttctg
gaacaagccacacagtccttgagaggttcgctgagttctaatgatgttcctctaccagat
tatgcacaagacctaaatgtcattgaagaagtgattcgaatgatgttagagatcatcaac
tcctgcctgacaaattcccttcaccacaacccaaacttggtatacgccctgctttacaaa
cgcgatctctttgaacaatttcgaactcatccttcatttcaggatataatgcaaaatatt
gatctggtgatctccttctttagctcaaggttgctgcaagctggagctgagctgtcagtg
gaacgggtcctggaaatcattaagcaaggcgtcgttgcgctgcccaaagacagactgaag
aaatttccagaattgaaattcaaatatgtggaagaggagcagcccgaggagttttttatc
ccctatgtctggtctcttgtctacaactcagcagtcggcctgtactggaatccacaggac
atccagctgttcaccatggattccgactga
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