KEGG   Homo sapiens (human): 4014
Entry
4014              CDS       T01001                                 
Symbol
LORICRIN, LOR
Name
(RefSeq) loricrin
  KO
K10385  loricrin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04382  Cornified envelope formation
Network
nt06545  Cornified envelope formation
  Element
N01924  Loricrin oligomerization with small proline-rich proteins and further stabilization
Disease
H00714  Vohwinkel syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09158 Development and regeneration
   04382 Cornified envelope formation
    4014 (LORICRIN)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    4014 (LORICRIN)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Intermediate filaments
   Intermediate filament-binding proteins
    4014 (LORICRIN)
SSDB
Motif
Pfam: Loricrin
Other DBs
NCBI-GeneID: 4014
NCBI-ProteinID: NP_000418
OMIM: 152445
HGNC: 6663
Ensembl: ENSP00000357731.3
UniProt: P23490
LinkDB
Position
1:153259687..153262124
AA seq 312 aa
MSYQKKQPTPQPPVDCVKTSGGGGGGGGSGGGGCGFFGGGGSGGGSSGSGCGYSGGGGYS
GGGCGGGSSGGGGGGGIGGCGGGSGGSVKYSGGGGSSGGGSGCFSSGGGGSGCFSSGGGG
SSGGGSGCFSSGGGGSSGGGSGCFSSGGGGFSGQAVQCQSYGGVSSGGSSGGGSGCFSSG
GGGGSVCGYSGGGSGCGGGSSGGSGSGYVSSQQVTQTSCAPQPSYGGGSSGGGGSGGSGC
FSSGGGGGSSGCGGGSSGIGSGCIISGGGSVCGGGSSGGGGGGSSVGGSGSGKGVPICHQ
TQQKQAPTWPSK
NT seq 939 nt   +upstreamnt  +downstreamnt
atgtcttatcagaaaaagcagcccacccctcagcccccagtggactgcgtgaagacctct
ggcggcggtggcggtggcggcggcagcggcggtggtggctgcggcttcttcggcggcggc
ggctcagggggcggtagcagcggttctggctgcggctactccggcggcggtggctactct
ggcggcggctgcggcgggggctcctccggcggcgggggcgggggcggcattggaggctgc
ggagggggctccggtgggagcgtcaagtactccggaggcggcggctcctccggcgggggc
tctggctgtttctccagcggtgggggcggctccggctgcttctcctccggtggcggcggc
tcctccgggggcggctccggctgcttctccagcggtgggggcggctcctccgggggcggc
tccggctgcttctcctccggcggcggcggcttctcgggccaggcggtccagtgccagagc
tacggaggcgtctctagcggcggctcctccgggggcggctccggctgcttctccagcggc
gggggcggcggctctgtctgcggctactctggcggcggctctggctgcggcggaggctcc
tctggcggcagcggctccggctacgtctcctcgcagcaggtcactcagacctcgtgcgcg
ccccagccgagttacggaggggggtcgtccggcggcggcggcagcggcggaagcggctgc
ttctccagcggcgggggcggcgggagctccggctgcggcggcggctcctccgggattggc
agcggctgcatcatcagtggcgggggctccgtctgcggaggtggttcctctggaggcggc
ggcggcggctcctccgtgggtggctccgggagtggcaagggcgtcccgatctgccaccag
acccagcagaagcaggcgcctacctggccgtccaaatag

KEGG   Homo sapiens (human): 6698
Entry
6698              CDS       T01001                                 
Symbol
SPRR1A, SPRK
Name
(RefSeq) cornifin-A
  KO
K28331  small proline-rich protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04382  Cornified envelope formation
Network
nt06545  Cornified envelope formation
  Element
N01924  Loricrin oligomerization with small proline-rich proteins and further stabilization
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09158 Development and regeneration
   04382 Cornified envelope formation
    6698 (SPRR1A)
SSDB
Motif
Pfam: Cornifin SPRR2
Other DBs
NCBI-GeneID: 6698
NCBI-ProteinID: NP_001186757
OMIM: 182265
HGNC: 11259
UniProt: P35321
LinkDB
Position
1:152984081..152985814
AA seq 89 aa
MNSQQQKQPCTPPPQPQQQQVKQPCQPPPQEPCIPKTKEPCHPKVPEPCHPKVPEPCQPK
VPEPCQPKVPEPCPSTVTPAPAQQKTKQK
NT seq 270 nt   +upstreamnt  +downstreamnt
atgaattctcagcagcagaagcagccttgcaccccaccccctcagcctcagcagcagcag
gtgaaacaaccttgccagcctccaccccaggaaccatgcatccccaaaaccaaggagccc
tgccaccccaaggtgcctgagccctgccaccccaaagtgcctgagccctgccagcccaag
gttccagagccctgccagcccaaggtgcctgagccctgcccttcaacggtcactccagca
ccagcccagcagaagaccaagcagaagtaa

KEGG   Homo sapiens (human): 6700
Entry
6700              CDS       T01001                                 
Symbol
SPRR2A
Name
(RefSeq) small proline-rich protein 2A
  KO
K28331  small proline-rich protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04382  Cornified envelope formation
Network
nt06545  Cornified envelope formation
  Element
N01924  Loricrin oligomerization with small proline-rich proteins and further stabilization
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09158 Development and regeneration
   04382 Cornified envelope formation
    6700 (SPRR2A)
SSDB
Motif
Pfam: SPRR2
Other DBs
NCBI-GeneID: 6700
NCBI-ProteinID: NP_005979
OMIM: 182267
HGNC: 11261
Ensembl: ENSP00000376423.2
UniProt: P35326
LinkDB
Position
1:complement(153056120..153057512)
AA seq 72 aa
MSYQQQQCKQPCQPPPVCPTPKCPEPCPPPKCPEPCPPPKCPQPCPPQQCQQKYPPVTPS
PPCQSKYPPKSK
NT seq 219 nt   +upstreamnt  +downstreamnt
atgtcttatcaacagcagcagtgcaagcagccctgccagccacctcctgtgtgccccacg
ccaaagtgcccagagccatgtccacccccgaagtgccctgagccctgcccaccaccaaag
tgtccacagccctgcccacctcagcagtgccagcagaaatatcctcctgtgacaccttcc
ccaccctgccagtcaaagtatccaccgaagagcaagtaa

KEGG   Homo sapiens (human): 6707
Entry
6707              CDS       T01001                                 
Symbol
SPRR3
Name
(RefSeq) small proline-rich protein 3
  KO
K28331  small proline-rich protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04382  Cornified envelope formation
Network
nt06545  Cornified envelope formation
  Element
N01924  Loricrin oligomerization with small proline-rich proteins and further stabilization
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09158 Development and regeneration
   04382 Cornified envelope formation
    6707 (SPRR3)
SSDB
Motif
Pfam: Cornifin
Other DBs
NCBI-GeneID: 6707
NCBI-ProteinID: NP_001091058
OMIM: 182271
HGNC: 11268
Ensembl: ENSP00000295367.4
UniProt: Q9UBC9
LinkDB
Position
1:153001749..153003856
AA seq 169 aa
MSSYQQKQTFTPPPQLQQQQVKQPSQPPPQEIFVPTTKEPCHSKVPQPGNTKIPEPGCTK
VPEPGCTKVPEPGCTKVPEPGCTKVPEPGCTKVPEPGCTKVPEPGYTKVPEPGSIKVPDQ
GFIKFPEPGAIKVPEQGYTKVPVPGYTKLPEPCPSTVTPGPAQQKTKQK
NT seq 510 nt   +upstreamnt  +downstreamnt
atgagttcttaccagcagaagcagacctttaccccaccacctcagcttcaacagcagcag
gtgaaacaacccagccagcctccacctcaggaaatatttgttcccacaaccaaggagcca
tgccactcaaaggttccacaacctggaaacacaaagattccagagccaggctgtaccaag
gtccctgagccaggctgtaccaaggtccctgagccaggctgtaccaaggtccctgagcca
ggttgtaccaaggtccctgagccaggctgtaccaaggtccctgagccaggttgtaccaag
gtccctgagccaggctacaccaaggtccctgaaccaggcagcatcaaggtccctgaccaa
ggcttcatcaagtttcctgagccaggtgccatcaaagttcctgagcaaggatacaccaaa
gttcctgtgccaggctacacaaagctaccagagccatgtccttcaacggtcactccaggc
ccagctcagcagaagaccaagcagaagtaa

KEGG   Homo sapiens (human): 7062
Entry
7062              CDS       T01001                                 
Symbol
TCHH, THH, THL, TRHY, UHS3
Name
(RefSeq) trichohyalin
  KO
K18626  trichohyalin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04382  Cornified envelope formation
Network
nt06545  Cornified envelope formation
  Element
N01924  Loricrin oligomerization with small proline-rich proteins and further stabilization
Disease
H01796  Uncombable hair syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09158 Development and regeneration
   04382 Cornified envelope formation
    7062 (TCHH)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    7062 (TCHH)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Intermediate filaments
   Intermediate filament-binding proteins
    7062 (TCHH)
SSDB
Motif
Pfam: S_100 EF-hand_1 EF-hand_8
Other DBs
NCBI-GeneID: 7062
NCBI-ProteinID: NP_009044
OMIM: 190370
HGNC: 11791
Ensembl: ENSP00000480484.1
UniProt: Q07283
LinkDB
Position
1:complement(152106317..152115444)
AA seq 1943 aa
MSPLLRSICDITEIFNQYVSHDCDGAALTKKDLKNLLEREFGAVLRRPHDPKTVDLILEL
LDLDSNGRVDFNEFLLFIFKVAQACYYALGQATGLDEEKRARCDGKESLLQDRRQEEDQR
RFEPRDRQLEEEPGQRRRQKRQEQERELAEGEEQSEKQERLEQRDRQRRDEELWRQRQEW
QEREERRAEEEQLQSCKGHETEEFPDEEQLRRRELLELRRKGREEKQQQRRERQDRVFQE
EEEKEWRKRETVLRKEEEKLQEEEPQRQRELQEEEEQLRKLERQELRRERQEEEQQQQRL
RREQQLRRKQEEERREQQEERREQQERREQQEERREQQLRREQEERREQQLRREQEEERR
EQQLRREQEEERREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLRREQQLR
REQQLRREQEEERHEQKHEQERREQRLKREQEERRDWLKREEETERHEQERRKQQLKRDQ
EEERRERWLKLEEEERREQQERREQQLRREQEERREQRLKRQEEEERLQQRLRSEQQLRR
EQEERREQLLKREEEKRLEQERREQRLKREQEERRDQLLKREEERRQQRLKREQEERLEQ
RLKREEVERLEQEERREQRLKREEPEEERRQQLLKSEEQEERRQQQLRREQQERREQRLK
REEEEERLEQRLKREHEEERREQELAEEEQEQARERIKSRIPKWQWQLESEADARQSKVY
SRPRKQEGQRRRQEQEEKRRRRESELQWQEEERAHRQQQEEEQRRDFTWQWQAEEKSERG
RQRLSARPPLREQRERQLRAEERQQREQRFLPEEEEKEQRRRQRREREKELQFLEEEEQL
QRRERAQQLQEEEDGLQEDQERRRSQEQRRDQKWRWQLEEERKRRRHTLYAKPALQEQLR
KEQQLLQEEEEELQREEREKRRRQEQERQYREEEQLQQEEEQLLREEREKRRRQERERQY
RKDKKLQQKEEQLLGEEPEKRRRQEREKKYREEEELQQEEEQLLREEREKRRRQEWERQY
RKKDELQQEEEQLLREEREKRRLQERERQYREEEELQQEEEQLLGEERETRRRQELERQY
RKEEELQQEEEQLLREEPEKRRRQERERQCREEEELQQEEEQLLREEREKRRRQELERQY
REEEEVQQEEEQLLREEPEKRRRQELERQYREEEELQQEEEQLLREEQEKRRQERERQYR
EEEELQRQKRKQRYRDEDQRSDLKWQWEPEKENAVRDNKVYCKGRENEQFRQLEDSQLRD
RQSQQDLQHLLGEQQERDREQERRRWQQRDRHFPEEEQLEREEQKEAKRRDRKSQEEKQL
LREEREEKRRRQETDRKFREEEQLLQEREEQPLRRQERDRKFREEELRHQEQGRKFLEEE
QRLRRQERERKFLKEEQQLRCQEREQQLRQDRDRKFREEEQQLSRQERDRKFREEEQQVR
RQERERKFLEEEQQLRQERHRKFREEEQLLQEREEQQLHRQERDRKFLEEEQQLRRQERD
RKFREQELRSQEPERKFLEEEQQLHRQQRQRKFLQEEQQLRRQERGQQRRQDRDRKFREE
EQLRQEREEQQLSRQERDRKFRLEEQKVRRQEQERKFMEDEQQLRRQEGQQQLRQERDRK
FREDEQLLQEREEQQLHRQERDRKFLEEEPQLRRQEREQQLRHDRDRKFREEEQLLQEGE
EQQLRRQERDRKFREEEQQLRRQERERKFLQEEQQLRRQELERKFREEEQLRQETEQEQL
RRQERYRKILEEEQLRPEREEQQLRRQERDRKFREEEQLRQEREEQQLRSQESDRKFREE
EQLRQEREEQQLRPQQRDGKYRWEEEQLQLEEQEQRLRQERDRQYRAEEQFATQEKSRRE
EQELWQEEEQKRRQERERKLREEHIRRQQKEEQRHRQVGEIKSQEGKGHGRLLEPGTHQF
ASVPVRSSPLYEYIQEQRSQYRP
NT seq 5832 nt   +upstreamnt  +downstreamnt
atgtctccacttctgagaagcatctgtgacatcactgaaattttcaatcagtatgtctct
catgattgtgatggagcagcattaactaagaaagacctgaagaacctccttgaaagggaa
tttggagctgtgcttcggagaccacatgaccctaagacggtagatctgatcctggaactt
ctggatcttgacagtaatgggcgtgtcgatttcaacgaattcctcctatttattttcaaa
gtggctcaagcttgttactatgctctcggccaggccacgggactggatgaggagaagcga
gcccggtgtgacggaaaggagagcctgttacaagatcgcaggcaagaagaagaccaaagg
agattcgagccccgggacagacaactggaagaagaacctgggcaacgacgcaggcagaag
aggcaggaacaggagagggagctagctgagggagaggagcaaagtgagaaacaagagcga
cttgaacagcgcgacaggcagcgccgcgacgaggagctgtggcggcaaaggcaagaatgg
caagaacgggaagagcgccgtgcagaggaagagcagctgcagagttgcaaaggtcacgaa
actgaggagtttccagacgaagagcaactgcgaaggcgggagctgctggagctgaggagg
aagggccgcgaggagaaacagcagcaaaggcgagagcggcaagacagagtgttccaggag
gaagaagagaaagagtggaggaagcgcgagacagtgctccggaaggaagaagagaagttg
caggaagaggagccgcagcggcaaagagagctccaggaggaagaagagcagctacggaag
ctggagcggcaagagctgaggagggagcgccaggaggaagagcagcagcagcaaaggctg
aggcgcgagcagcaactaaggcgcaagcaggaggaggagaggcgcgagcagcaggaggag
aggcgcgagcagcaggagaggcgcgagcagcaggaggagaggcgcgagcagcagctgagg
cgcgagcaggaggagaggcgcgagcagcagctgaggcgcgagcaggaggaggagaggcgc
gagcagcagctgaggcgcgagcaggaggaggagaggcgcgagcagcagctgaggcgcgag
cagcagctgaggcgcgagcagcagctgaggcgcgagcagcagctgaggcgcgagcagcag
ctgaggcgcgagcagcagctgaggcgcgagcagcagctgaggcgcgagcagcagctgagg
cgcgagcagcagctgaggcgcgagcaggaggaggagaggcacgagcagaagcacgagcag
gagaggcgcgagcagcggctgaagcgcgagcaggaggagaggcgcgattggctgaagcgc
gaggaggagacggagaggcacgagcaggagaggcgcaagcagcagctgaagcgcgaccag
gaggaggagaggcgcgaacgttggctgaagctcgaggaggaggagaggcgcgagcagcag
gagaggcgcgagcagcaactaaggcgggagcaagaggagaggcgcgagcagcggctgaag
cgccaggaggaggaagagaggctccagcagcggttgaggagcgagcaacaactaagacgc
gagcaggaggagaggcgcgagcagctgctgaagcgcgaggaggagaagaggctcgagcag
gagaggcgagagcagcggctgaagcgcgagcaggaggagaggcgcgatcagctgctgaag
cgcgaggaggagaggcgccagcagcggctgaagcgcgagcaggaagagaggctcgagcag
cgactgaagcgcgaggaggtggagagactcgagcaggaggagaggcgcgagcagcggctg
aagcgcgaggagccggaggaagagaggcgccagcagctgctgaagagcgaggagcaggag
gagaggcgccagcagcaactaaggcgcgagcagcaggaaaggcgcgagcagcggctgaag
cgcgaggaggaggaagagaggctcgagcagcggctgaagcgcgagcatgaggaagagagg
cgcgagcaggagctagctgaggaggagcaggaacaggcccgggagcggattaagagccgc
atcccgaagtggcagtggcagctagaaagcgaggccgacgcacggcaaagcaaagtctac
tcgaggccccgcaagcaggaagggcagaggcgccgccaagagcaggaggaaaagaggcgg
cgccgggagagtgagctgcaatggcaggaggaggaacgggctcaccggcagcagcaggaa
gaggagcagcgccgggacttcacatggcagtggcaggcggaggaaaagagcgagaggggc
cgtcagaggctgtcggccaggcccccattgcgggagcagcgggagaggcagctgagggcc
gaggagcgccagcagcgggaacaacggtttctcccggaggaggaggagaaggagcagcgg
cgccgccagcgacgcgagagggagaaagagctgcagttcctggaggaagaggagcagctc
cagcggcgggagcgtgcccaacagctccaggaggaggaggacggcctccaggaggatcag
gagaggaggcgaagccaggagcagcgccgcgaccaaaaatggaggtggcaactagaagaa
gaaaggaagagacgccgccacacgctgtacgccaagccagccctacaagagcagctgagg
aaggaacagcagctgctgcaggaggaggaggaggagctacagagagaggagcgcgagaag
agaaggcgccaagaacaggagagacaataccgcgaggaagagcagctgcagcaggaggaa
gagcagctgctgagagaggaacgggagaaaagaagacgccaggagcgggaaaggcaatat
cggaaggataagaagctgcagcagaaggaagagcagctgctgggagaggaaccggagaag
agaaggcgccaggagcgggagaaaaaataccgcgaggaagaggagttgcagcaggaggaa
gagcagctgctgagagaggaacgggagaagagaaggcgccaggagtgggagaggcagtac
cgcaaaaaagacgagctgcagcaggaagaagagcagctgctgagagaggaacgggagaaa
agaagactccaggagcgggagaggcaatatcgggaggaagaggagctgcagcaggaggaa
gagcagctgctgggagaggaacgggagacgagaaggcgccaggagctggagaggcaatat
cggaaggaagaggagctgcagcaggaggaagagcagctgctgagagaggaaccggagaag
agaaggcgccaggagcgggagaggcaatgtcgggaggaagaggagctgcagcaggaggaa
gagcagctgctgagagaggaacgggagaagagaaggcgccaggagctggagaggcaatat
cgggaggaagaggaggtgcagcaggaggaagagcagctgctgagagaggaaccggagaag
agaaggcgccaggagctggagaggcaataccgcgaggaagaggagctgcagcaggaggaa
gagcagctgctgagagaggaacaggagaaaaggcgccaggagcgggagaggcagtatcgg
gaggaggaagagcttcagcgccagaaaaggaagcagcgataccgggatgaggatcagcgc
agtgatctgaaatggcagtgggaaccagaaaaagaaaatgcagttcgtgataacaaggtt
tactgcaaaggcagagagaatgaacagttccggcagttggaagattcccagctgcgcgac
agacaatcccagcaagatctgcagcacctgctgggtgaacagcaagagcgagatcgtgag
caagagaggaggcgctggcagcagcgcgacaggcatttcccagaggaagaacagctggag
cgagaagagcaaaaggaagccaaaaggcgcgacaggaagtcccaagaggaaaagcagttg
ctgagagaggaaagagaagagaagagacgccgtcaagagacagacagaaaattccgcgag
gaggaacagctgctccaggaaagggaggaacagccgctgcgccgccaagagcgtgacaga
aaattccgcgaagaggaactgcgccatcaggaacaagggagaaaattcctcgaggaggaa
cagcggctgcgccgccaggaacgggagagaaaattccttaaggaggaacagcagctgcgc
tgccaggagcgcgagcaacagctgcgtcaggaccgcgacagaaaattccgcgaggaggaa
cagcagctgagccgccaagagcgtgacagaaaattccgtgaagaggaacagcaggtgcgc
cgccaggaacgagagagaaaattcctggaggaggaacagcagctgcgccaggagcgtcac
agaaaattccgcgaagaggaacagctgctccaggaaagggaagaacagcagctgcaccgc
caagagcgtgacagaaaattcctggaggaggaacaacagctgcgccgccaagagcgtgac
agaaaattccgcgaacaggaactgcgcagtcaggaaccagagagaaaattcctcgaggag
gaacagcagctgcaccgccagcaacggcagagaaaattcctccaggaggaacagcagctg
cgccgccaggagcgcgggcaacagcggcgtcaggaccgtgacagaaaattccgcgaggag
gaacagctgcgccaggagagggaggaacagcagctgagccgccaagagcgtgacagaaaa
ttccgtttagaggaacagaaagtgcgccgccaggaacaagagagaaaattcatggaggac
gaacagcagctgcgccgccaggagggccaacaacagctgcgccaggagcgcgacagaaaa
ttccgcgaagacgaacagctgctccaggaaagggaagaacagcagctgcaccgccaagag
cgtgacagaaaattcctcgaggaggaaccgcagctgcgccgccaggagcgcgaacaacag
ctgcgtcacgaccgcgacagaaaattccgtgaagaggaacagctgctccaggaaggggag
gaacagcagctgcgccgccaagagcgtgacagaaaattccgcgaagaggaacagcagctc
cgccgtcaggaacgagagagaaaattcctccaggaggaacagcagctgcgccgccaggaa
ctggagagaaaattccgtgaggaggaacagctgcgccaagaaacggagcaagagcagctg
cgccgccaagaacgctacagaaaaatcctagaggaagagcagctccgtccggaaagggaa
gaacagcagctgcgccgccaggagcgcgacagaaaattccgcgaggaggaacagctccgc
caggagagggaggaacagcagctgcgcagccaagagtctgacagaaaattccgcgaggag
gaacagctacgccaggagagggaagaacagcagctgcgcccccaacagcgtgacggaaag
tatcgctgggaagaagagcagctccaacttgaggaacaagagcagaggctgcggcaggag
cgagaccggcagtaccgggcggaggagcagtttgccacgcaggagaagagtcgtcgtgag
gaacaagaactatggcaagaagaggagcagaaacgtcgccaggaacgggaaaggaaatta
cgggaagaacacatccgccgccagcagaaggaggaacagaggcaccgccaagtcggggag
ataaaatcccaagaagggaagggccatgggcggcttctggagcccggcactcatcagttt
gccagtgtcccagtgcgctccagccctctctatgagtacatccaagagcagagatctcaa
taccgcccttaa

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