KEGG   Homo sapiens (human): 3848
Entry
3848              CDS       T01001                                 
Symbol
KRT1, AEI2, CK1, EHK, EHK1, EPPK, K1, KRT1A, NEPPK
Name
(RefSeq) keratin 1
  KO
K07605  type II keratin, basic
Organism
hsa  Homo sapiens (human)
Pathway
hsa04382  Cornified envelope formation
Network
nt06545  Cornified envelope formation
  Element
N01930  Processing of profilaggrin to filaggrin and binding to keratin filaments
Disease
H00691  Bullous congenital ichthyosiform erythroderma (BCIE)
H00707  Ichthyosis hystrix
H00717  Striate palmoplantar keratoderma
H00722  Epidermolytic palmoplantar keratoderma
H02265  Annular epidermolytic ichthyosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09158 Development and regeneration
   04382 Cornified envelope formation
    3848 (KRT1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    3848 (KRT1)
   04147 Exosome [BR:hsa04147]
    3848 (KRT1)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Intermediate filaments
   Intermediate filaments
    Types I and II: Acidic and basic keratins
     3848 (KRT1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of epithelial cells
   3848 (KRT1)
  Exosomal proteins of other body fluids (saliva and urine)
   3848 (KRT1)
  Exosomal proteins of colorectal cancer cells
   3848 (KRT1)
  Exosomal proteins of bladder cancer cells
   3848 (KRT1)
SSDB
Motif
Pfam: Filament Keratin_2_head Keratin_2_tail TPR_MLP1_2 Alanine_zipper DUF8776 WIT1_2_N CENP-F_leu_zip KIF21A_4th FKBP15 CCDC39 DUF745 Cast DUF4407 Nuf2_DHR10-like DUF6161 Kazrin XhlA She9_MDM33 Spectrin_7 FapA YwqH-like ABC_tran_CTD ATG17_like SlyX DUF948 DUF2740 ODF2_C bZIP_1 T4SS_LegC2C7 SPC25_N CCDC89 Bap31_Bap29_C NNF2_middle ADIP HsbA COG6_N Rab11-FIP3 DUF1664 Baculo_PEP_C CLIP1 CLZ Fib_alpha
Other DBs
NCBI-GeneID: 3848
NCBI-ProteinID: NP_006112
OMIM: 139350
HGNC: 6412
Ensembl: ENSG00000167768
UniProt: P04264
Structure
Position
12:complement(52674736..52680407)
AA seq 644 aa
MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGGRFSSCGGGGGSFGAGG
GFGSRSLVNLGGSKSISISVARGGGRGSGFGGGYGGGGFGGGGFGGGGFGGGGIGGGGFG
GFGSGGGGFGGGGFGGGGYGGGYGPVCPPGGIQEVTINQSLLQPLNVEIDPEIQKVKSRE
REQIKSLNNQFASFIDKVRFLEQQNQVLQTKWELLQQVDTSTRTHNLEPYFESFINNLRR
RVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINKRTNAENEFVTIKKDVDGAYMTKVD
LQAKLDNLQQEIDFLTALYQAELSQMQTQISETNVILSMDNNRSLDLDSIIAEVKAQYED
IAQKSKAEAESLYQSKYEELQITAGRHGDSVRNSKIEISELNRVIQRLRSEIDNVKKQIS
NLQQSISDAEQRGENALKDAKNKLNDLEDALQQAKEDLARLLRDYQELMNTKLALDLEIA
TYRTLLEGEESRMSGECAPNVSVSVSTSHTTISGGGSRGGGGGGYGSGGSSYGSGGGSYG
SGGGGGGGRGSYGSGGSSYGSGGGSYGSGGGGGGHGSYGSGSSSGGYRGGSGGGGGGSSG
GRGSGGGSSGGSIGGRGSSSGGVKSSGGSSSVKFVSTTYSGVTR
NT seq 1935 nt   +upstreamnt  +downstreamnt
atgagtcgacagtttagttccaggtctgggtaccgaagtggagggggcttcagctctggc
tctgctgggatcatcaactaccagcgcaggaccaccagcagctccacacgccgcagtgga
ggaggtggtgggagattttcaagctgtggtggtggtggtggtagctttggtgctggtggt
ggatttggaagtcggagtcttgttaaccttggtggcagtaaaagcatctccataagtgtg
gctagaggaggtggacgtggtagtggctttggtggtggttatggtggtggtggctttggt
ggtggtggctttggtggtggtggctttggtggaggtggcattgggggtggtggctttggt
ggttttggcagtggtggtggtggttttggtggaggtggctttgggggtggtggatatggg
ggtggttatggtcctgtctgccctcctggtggcatacaagaagtcactatcaaccagagc
cttcttcagcccctcaatgtggagattgaccctgagatccaaaaggtgaagtctcgagaa
agggagcaaatcaagtcactcaacaaccaatttgcctccttcattgacaaggtgaggttc
ctggagcagcagaaccaggtactgcaaacaaaatgggagctgctgcagcaggtagatacc
tccactagaacccataatttagagccctactttgagtcattcatcaacaatctccgaagg
agagtggaccaactgaagagtgatcaatctcggttggattcggaactgaagaacatgcag
gacatggtggaggattaccggaacaagtatgaggatgaaatcaacaagcggacaaatgca
gagaatgaatttgtgaccatcaagaaggatgtggatggtgcttatatgaccaaggtggac
cttcaggccaaacttgacaacttgcagcaggaaattgatttccttacagcactctaccaa
gcagagttgtctcagatgcagactcaaatcagtgaaactaatgtcatcctctctatggac
aacaaccgcagtctcgacctggacagcatcattgctgaggtcaaggcccagtacgaggat
atagcccagaagagcaaagctgaggccgagtccttgtaccagagcaagtatgaagagctg
cagatcactgctggcagacatggggatagtgtgagaaattcaaagatagaaatttctgag
ctgaatcgtgtgatccagagacttagatctgaaatcgacaatgtcaagaagcagatctcc
aacttgcagcagtccatcagtgatgcagagcagcgtggcgagaatgccctcaaggatgcc
aagaacaagctgaatgacctggaggatgccctgcagcaggccaaggaagacctggcccgc
ctgctgcgcgactaccaggagctgatgaacacaaagctggccctggatctggagattgcc
acctacaggaccctcctggagggagaagaaagcaggatgtctggagaatgtgccccgaac
gtgagtgtgtctgtgagcacaagccacaccaccatcagtggaggtggcagccgaggaggt
ggcggcggtggctacggctctggaggtagcagctatggctccggaggtggtagctatggt
tctggaggtggcggcggcggcggccgtggcagctatggctccggaggtagcagctacggc
tccggaggtggcagctatggctctggaggtggcggcggcggccatggcagctacggctcc
ggaagcagcagtgggggctacagaggtggctctggaggcggcggcggcggcagctctggc
ggccggggctctggcggcgggagctctggaggctccataggaggccggggatccagctct
gggggtgtcaagtcctctggtggcagttccagcgtgaagtttgtttctaccacttattcc
ggagtaaccagataa

  All links  
Disease (7)   
   OMIM (7)   
Gene (11)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (9)   
   RefSeq(nuc) (1)   
   GenBank (4)   
   EMBL (4)   
3D Structure (3)   
   PDB (3)   
Protein domain (35)   
   Pfam (35)   
All databases (68)   

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