KEGG   Homo sapiens (human): 54808
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)
SSDB
Motif
Pfam: Dymeclin Hid1 Bse634I
Other DBs
NCBI-GeneID: 54808
NCBI-ProteinID: NP_060123
OMIM: 607461
HGNC: 21317
Ensembl: ENSG00000141627
UniProt: Q7RTS9
Position
18:complement(49036387..49460645)
AA seq 669 aa
MGSNSSRIGDLPKNEYLKKLSGTESISENDPFWNQLLSFSFPAPTSSSELKLLEEATISV
CRSLVENNPRTGNLGALIKVFLSRTKELKLSAECQNHIFIWQTHNALFIICCLLKVFICQ
MSEEELQLHFTYEEKSPGNYSSDSEDLLEELLCCLMQLITDIPLLDITYEISVEAISTMV
VFLSCQLFHKEVLRQSISHKYLMRGPCLPYTSKLVKTLLYNFIRQEKPPPPGAHVFPQQS
DGGGLLYGLASGVATGLWTVFTLGGVGSKAAASPELSSPLANQSLLLLLVLANLTDASDA
PNPYRQAIMSFKNTQDSSPFPSSIPHAFQINFNSLYTALCEQQTSDQATLLLYTLLHQNS
NIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILK
NITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQY
AAQRIISLFSLLSKKHNKVLEQATQSLRGSLSSNDVPLPDYAQDLNVIEEVIRMMLEIIN
SCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSRLLQAGAELSV
ERVLEIIKQGVVALPKDRLKKFPELKFKYVEEEQPEEFFIPYVWSLVYNSAVGLYWNPQD
IQLFTMDSD
NT seq 2010 nt   +upstreamnt  +downstreamnt
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

DBGET integrated database retrieval system