KEGG   Homo sapiens (human): 5075
Entry
5075              CDS       T01001                                 
Symbol
PAX1, HUP48, OFC2, OTFCS2
Name
(RefSeq) paired box 1
  KO
K09382  paired box protein 1/9
Organism
hsa  Homo sapiens (human)
Disease
H02046  OFC syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    5075 (PAX1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain Paired-related
    5075 (PAX1)
SSDB
Motif
Pfam: PAX HTH_23 HTH_32 HTH_29
Other DBs
NCBI-GeneID: 5075
NCBI-ProteinID: NP_006183
OMIM: 167411
HGNC: 8615
Ensembl: ENSG00000125813
UniProt: P15863
Position
20:21705664..21718481
AA seq 534 aa
MKFTLGLGSRAWRVSWEGAAAAAAGPGAGGSALRCRAQRVSSPRLGRRGSRLSGALPLCL
SRGGGGAQALPDCAGPSPGHPGHPGARQLAGPLAMEQTYGEVNQLGGVFVNGRPLPNAIR
LRIVELAQLGIRPCDISRQLRVSHGCVSKILARYNETGSILPGAIGGSKPRVTTPNVVKH
IRDYKQGDPGIFAWEIRDRLLADGVCDKYNVPSVSSISRILRNKIGSLAQPGPYEASKQP
PSQPTLPYNHIYQYPYPSPVSPTGAKMGSHPGVPGTAGHVSIPRSWPSAHSVSNILGIRT
FMEQTGALAGSEGTAYSPKMEDWAGVNRTAFPATPAVNGLEKPALEADIKYTQSASTLSA
VGGFLPACAYPASNQHGVYSAPGGGYLAPGPPWPPAQGPPLAPPGAGVAVHGGELAAAMT
FKHPSREGSLPAPAARPRTPSVAYTDCPSRPRPPRGSSPRTRARRERQADPGAQVCAAAP
AIGTGRIGGLAEEEASAGPRGARPASPQAQPCLWPDPPHFLYWSGFLGFSELGF
NT seq 1605 nt   +upstreamnt  +downstreamnt
atgaagttcaccctgggcctggggtcgcgggcgtggagagtgtcctgggagggggcagca
gcggcggcggcaggccctggagcgggcggcagcgcgctccgctgccgcgcacagcgcgtc
tccagcccgcggctgggccgccgcggctctcggctctcgggcgccctccctctatgcctc
tcacgcggcggcggcggcgcccaagctctcccggactgcgccgggcccagccccggccac
cccggccaccccggcgccaggcagctggccggcccgctcgctatggagcagacgtatggc
gaggtgaaccagctgggcggtgtgttcgtcaacggccgccccctgcccaacgccatccgc
ttgcgcattgtggagctggcgcagctgggcatccgaccctgtgacatcagtcggcagctc
cgcgtatcccacggctgcgtgagcaagatcctggcgcgctacaacgagaccggctccatt
ctgcccggggccatcggggggagcaagccccgcgtcaccactcccaacgtggtcaagcac
atccgggactacaagcaaggagaccctggcatctttgcctgggagatccgcgaccggctg
ctggccgacggcgtctgtgacaagtacaatgtgccttcggtgagctccatcagccgcatc
ctgcgcaacaagatcggcagcctggcgcagcccggaccgtacgaggcaagtaagcagccg
ccgtcgcagcctacgctgccctacaaccacatctaccagtacccctaccccagtcccgtg
tcgcccacgggcgccaagatgggcagccaccccggggtcccgggcacggcgggccacgtc
agcatcccgcgctcatggccctcggcacactcggtcagcaacatcctgggcatccggacg
tttatggagcaaacaggggccctggctgggagcgaaggcaccgcttactctcccaagatg
gaagactgggccggcgtgaaccgcacggccttccccgccacccccgcagtgaatgggcta
gagaaacctgccttagaggcagacattaaatacactcagtcggcctccaccctctctgcc
gtgggcggctttctccccgcctgcgcctacccggcctccaaccagcacggcgtgtacagc
gccccgggcggcggctacctcgccccgggcccgccgtggccgcctgcgcaaggtcctcct
ctggcgccccccggggccggcgtagctgtgcatggcggggaactcgcggcagcaatgacc
ttcaagcatcccagccgagaaggaagcctcccagctccggcagcaaggccccggacgccc
tcagtagcttacacggactgcccatcccggcctcgacctcctaggggcagctctccccgg
acccgagcccggagggaacggcaggcggacccgggcgcacaggtctgcgcggcggccccg
gcaatcggcacgggcaggatcggaggactcgcggaggaggaagccagtgccggcccgcgg
ggtgcacgcccagccagcccccaggcccagccctgcctctggccggacccaccacacttc
ctttattggtctgggtttttaggcttctctgaacttgggttttag

  All links  
Disease (2)   
   OMIM (2)   
Gene (39)   
   RefGene (33)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (12)   
   RefSeq(nuc) (2)   
   GenBank (5)   
   EMBL (5)   
Protein domain (4)   
   Pfam (4)   
All databases (61)   

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