KEGG   Homo sapiens (human): 3848Help
Entry
3848              CDS       T01001                                 

Gene name
KRT1, CK1, EHK, EHK1, EPPK, K1, KRT1A, NEPPK
Definition
(RefSeq) keratin 1
  KO
K07605  type II keratin, basic
Organism
hsa  Homo sapiens (human)
Disease
H00691  Bullous congenital ichthyosiform erythroderma (BCIE)
H00707  Ichthyosis hystrix, Curth-Macklin type
H00717  Striate palmoplantar keratoderma
H00722  Epidermolytic palmoplantar keratoderma (EPPK)
H01673  Palmoplantar keratoderma
Brite
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Filament Keratin_2_head Keratin_2_tail TPR_MLP1_2 Spc7 AAA_13 Alanine_zipper DUF4407 Reo_sigmaC CENP-F_leu_zip Golgin_A5 XhlA Cast IncA Tropomyosin_1 ADIP DUF745 She9_MDM33 ABC_tran_CTD SlyX JIP_LZII bZIP_1 DUF5082 DUF1664 CLZ GARP Baculo_PEP_C DUF883 Fib_alpha Jnk-SapK_ap_N FapA DUF948 DUF1192
Motif
Other DBs
NCBI-GeneID: 3848
NCBI-ProteinID: NP_006112
OMIM: 139350
HGNC: 6412
Ensembl: ENSG00000167768
Vega: OTTHUMG00000169749
Pharos: P04264(Tbio)
UniProt: P04264
Structure
PDB: 

Jmol
Position
12q13.13
AA seq 644 aa AA seqDB search
MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGGRFSSCGGGGGSFGAGG
GFGSRSLVNLGGSKSISISVARGGGRGSGFGGGYGGGGFGGGGFGGGGFGGGGIGGGGFG
GFGSGGGGFGGGGFGGGGYGGGYGPVCPPGGIQEVTINQSLLQPLNVEIDPEIQKVKSRE
REQIKSLNNQFASFIDKVRFLEQQNQVLQTKWELLQQVDTSTRTHNLEPYFESFINNLRR
RVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINKRTNAENEFVTIKKDVDGAYMTKVD
LQAKLDNLQQEIDFLTALYQAELSQMQTQISETNVILSMDNNRSLDLDSIIAEVKAQYED
IAQKSKAEAESLYQSKYEELQITAGRHGDSVRNSKIEISELNRVIQRLRSEIDNVKKQIS
NLQQSISDAEQRGENALKDAKNKLNDLEDALQQAKEDLARLLRDYQELMNTKLALDLEIA
TYRTLLEGEESRMSGECAPNVSVSVSTSHTTISGGGSRGGGGGGYGSGGSSYGSGGGSYG
SGGGGGGGRGSYGSGGSSYGSGGGSYGSGGGGGGHGSYGSGSSSGGYRGGSGGGGGGSSG
GRGSGGGSSGGSIGGRGSSSGGVKSSGGSSSVKFVSTTYSGVTR
NT seq 1935 nt NT seq  +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
ctgctgcgcgactaccaggagctgatgaacaccaagctggccctggatctggagattgcc
acctacaggaccctcctggagggagaagaaagcaggatgtctggagaatgtgccccgaac
gtgagtgtgtctgtgagcacaagccacaccaccatcagtggaggtggcagccgaggaggt
ggcggcggtggctacggctctggaggtagcagctatggctccggaggtggtagctatggt
tctggaggtggcggcggcggcggccgtggcagctatggctccggaggtagcagctacggc
tccggaggtggcagctatggctctggaggtggcggcggcggccatggcagctacggctcc
ggaagcagcagtgggggctacagaggtggctctggaggcggcggcggcggcagctctggc
ggccggggctctggcggcgggagctctggaggctccataggaggccggggatccagctct
gggggtgtcaagtcctctggtggcagttccagcgtgaagtttgtttctaccacttattcc
ggagtaaccagataa

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