KEGG   Homo sapiens (human): 147409
Entry
147409            CDS       T01001                                 
Symbol
DSG4, CDGF13, CDHF13, HYPT6, LAH
Name
(RefSeq) desmoglein 4
  KO
K07599  desmoglein 4
Organism
hsa  Homo sapiens (human)
Pathway
hsa04382  Cornified envelope formation
Network
nt06545  Cornified envelope formation
  Element
N01922  Localization of envoplakin and periplakin to the plasma membrane (PM)
Disease
H00784  Localized autosomal recessive hypotrichosis
H00786  Hypotrichosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09158 Development and regeneration
   04382 Cornified envelope formation
    147409 (DSG4)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04515 Cell adhesion molecules [BR:hsa04515]
    147409 (DSG4)
Cell adhesion molecules [BR:hsa04515]
 Cadherins
  Major cadherins
   147409 (DSG4)
SSDB
Motif
Pfam: Cadherin Cadherin_FAT4_N CADH_Y-type_LIR Cadherin_CELSR2_9th
Other DBs
NCBI-GeneID: 147409
NCBI-ProteinID: NP_817123
OMIM: 607892
HGNC: 21307
Ensembl: ENSG00000175065
UniProt: Q86SJ6
LinkDB
Position
18:31376777..31414909
AA seq 1040 aa
MDWLFFRNICLLIILMVVMEVNSEFIVEVKEFDIENGTTKWQTVRRQKREWIKFAAACRE
GEDNSKRNPIAKIRSDCESNQKITYRISGVGIDRPPYGVFTINPRTGEINITSVVDREIT
PLFLIYCRALNSRGEDLERPLELRVKVMDINDNAPVFSQSVYTASIEENSDANTLVVKLC
ATDADEENHLNSKIAYKIVSQEPSGAPMFILNRYTGEVCTMSSFLDREQHSMYNLVVRGS
DRDGAADGLSSECDCRIKVLDVNDNFPTLEKTSYSASIEENCLSSELIRLQAIDLDEEGT
DNWLAQYLILSGNDGNWFDIQTDPQTNEGILKVVKMLDYEQAPNIQLSIGVKNQADFHYS
VASQFQMHPTPVRIQVVDVREGPAFHPSTMAFSVREGIKGSSLLNYVLGTYTAIDLDTGN
PATDVRYIIGHDAGSWLKIDSRTGEIQFSREFDKKSKYIINGIYTAEILAIDDGSGKTAT
GTICIEVPDINDYCPNIFPERRTICIDSPSVLISVNEHSYGSPFTFCVVDEPPGIADMWD
VRSTNATSAILTAKQVLSPGFYEIPILVKDSYNRACELAQMVQLYACDCDDNHMCLDSGA
AGIYTEDITGDTYGPVTEDQAGVSNVGLGPAGIGMMVLGILLLILAPLLLLLCCCKQRQP
EGLGTRFAPVPEGGEGVMQSWRIEGAHPEDRDVSNICAPMTASNTQDRMDSSEIYTNTYA
AGGTVEGGVSGVELNTGMGTAVGLMAAGAAGASGAARKRSSTMGTLRDYADADINMAFLD
SYFSEKAYAYADEDEGRPANDCLLIYDHEGVGSPVGSIGCCSWIVDDLDESCMETLDPKF
RTLAEICLNTEIEPFPSHQACIPISTDLPLLGPNYFVNESSGLTPSEVEFQEEMAASEPV
VHGDIIVTETYGNADPCVQPTTIIFDPQLAPNVVVTEAVMAPVYDIQGNICVPAELADYN
NVIYAERVLASPGVPDMSNSSTTEGCMGPVMSGNILVGPEIQVMQMMSPDLPIGQTVGST
SPMTSRHRVTRYSNIHYTQQ
NT seq 3123 nt   +upstreamnt  +downstreamnt
atggattggctcttcttcagaaacatttgccttttgatcattctaatggtggtgatggaa
gtaaacagtgaatttattgttgaggtgaaggaatttgacattgaaaatggcactacaaaa
tggcaaacagtcagaagacaaaagcgggagtggatcaagtttgccgcagcctgtcgagaa
ggagaggacaactcgaagaggaaccccattgccaaaattcgatcagactgcgaatcgaac
cagaagataacataccggatttctggagtagggattgatcgaccaccatatggggtattc
accattaatcctcgcactggggaaattaacatcacttcagtggtagacagagaaataact
ccacttttcttgatctattgccgggctctgaattcacggggtgaagatttagaaaggcct
cttgagcttagagtcaaagttatggacataaatgataacgctccagtcttttcgcaaagt
gtatacacagccagcattgaagaaaatagtgatgccaatacattggtagtaaagttatgt
gccacagatgcagatgaagaaaatcatctgaattctaaaattgcctacaagatcgtctct
caggagccatcaggtgcacccatgttcattctgaataggtacactggagaagtctgcacc
atgtccagtttcttggacagagagcaacacagtatgtacaacctggttgtgagaggctca
gatcgggatggagctgcagatggactgtcttctgagtgtgactgtagaatcaaggtttta
gacgtcaacgataatttccccaccttagagaaaacttcatactcagccagtattgaagag
aattgtttaagttcggaactgatacgattacaagcaattgatcttgatgaagaaggcact
gataactggttggctcaatatttaattctctctggaaatgatgggaattggttcgatatt
caaacagatccacaaaccaatgaaggcattttgaaagttgtcaagatgctggattatgaa
caagcacctaacattcagcttagtatcggagttaaaaaccaagctgattttcactactcc
gttgcttctcaattccaaatgcacccaacccctgtgagaattcaagttgttgatgtgaga
gaaggacctgcatttcatccaagtactatggcttttagtgtgcgggaaggaataaaagga
agttccttattgaattatgtgcttggcacatatacagccatagatttggacacaggaaac
cctgcaacagatgtcagatatatcatagggcatgatgcaggcagctggttaaaaattgat
tcaagaactggtgagatacaattttctagagaatttgataagaagtcaaaatatattatc
aatgggatatacacagcagagatcctggctatagatgatggctctggaaaaacagctaca
ggaaccatatgtattgaggttcctgatatcaatgattattgtccaaacatttttcctgaa
agaagaaccatctgcattgactctccatcagtccttatctctgttaatgaacattcttat
gggtctccgtttactttctgtgttgttgatgagccaccaggaatagctgacatgtgggat
gtcagatcaacaaatgctacctcggcaatccttacggctaagcaggttttatctccagga
ttttatgaaatcccaatcctggtgaaggacagctataacagagcatgtgaattggcacaa
atggtgcagttatatgcctgtgattgcgatgacaaccacatgtgcctggactctggtgcc
gcgggcatctacacagaggacataactggtgacacgtatgggcctgtcactgaagaccaa
gctggagtttcaaatgttggtcttggaccagcagggattggcatgatggttctgggcatc
ctgctactgattttggctccactcttgctgctcctgtgttgctgcaaacagagacagcca
gaaggcctgggaacaagatttgctcctgtgcctgagggcggagaaggagtgatgcagtct
tggagaattgaaggggcccatcccgaggacagggatgtgtcaaatatatgtgcacccatg
acagcctcaaatacccaggatcggatggattcctctgaaatctacaccaacacctatgca
gccgggggcacggtggaaggaggtgtatcgggagtggagctcaacacaggtatggggaca
gccgttggcctcatggccgcaggggccgcaggagcctcaggggccgcaaggaagaggagc
tctaccatgggaaccctgcgggactacgctgacgcagacatcaacatggctttcttggac
agctacttctcggagaaagcgtatgcttatgcagatgaagatgaaggtcgaccagccaat
gactgcttgctcatttatgaccacgagggagtcgggtctcccgtaggctctattggttgt
tgcagttggattgtggatgacttagatgaaagctgcatggaaactttagatccaaaattt
aggactcttgctgagatctgcttaaacacagaaattgaaccatttccttcacaccaggct
tgtataccaatcagtactgacctccctttgctcggacctaattactttgttaatgaatct
tcaggattgactccctcagaagttgaattccaagaagaaatggcagcatctgaacccgtg
gtccatggggatattattgtgactgagacttacggtaatgctgatccatgtgtgcaaccc
actacaattatttttgatcctcagcttgcacccaatgttgtagtaaccgaagcagtaatg
gcacctgtctatgatattcaagggaatatttgtgtacctgctgagttagcagattacaac
aatgtaatctatgctgagagagtactggctagtcctggtgtgcctgacatgagcaatagt
agcacgactgagggttgtatgggacctgtgatgagcggcaatattttagtagggccagaa
attcaagtgatgcaaatgatgagtccagaccttcccataggccaaaccgttggctccaca
tcccccatgacatctcgacacagagtaacacgatacagtaacatacattacacccaacag
taa

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