KEGG   Homo sapiens (human): 25939
Entry
25939             CDS       T01001                                 

Gene name
SAMHD1, CHBL2, DCIP, HDDC1, MOP-5, SBBI88, hSAMHD1
Definition
(RefSeq) SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
  KO
K22544  deoxynucleoside triphosphate triphosphohydrolase SAMHD1 [EC:3.1.5.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa05170  Human immunodeficiency virus 1 infection
Disease
H00290  Aicardi-Goutieres syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09172 Infectious disease: viral
   05170 Human immunodeficiency virus 1 infection
    25939 (SAMHD1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    25939 (SAMHD1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.5  Triphosphoric-monoester hydrolases
    3.1.5.-  
     25939 (SAMHD1)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   HR (homologous recombination)
    Other HR factors
     25939 (SAMHD1)
SSDB
Motif
Pfam: HD SAM_2 SAM_1 PDEase_I SAM_Ste50p
Other DBs
NCBI-GeneID: 25939
NCBI-ProteinID: NP_056289
OMIM: 606754
HGNC: 15925
Ensembl: ENSG00000101347
Vega: OTTHUMG00000032402
Pharos: Q9Y3Z3(Tbio)
UniProt: Q9Y3Z3 Q59H15
LinkDB
Structure
PDB: 

Position
20q11.23
AA seq 626 aa
MQRADSEQPSKRPRCDDSPRTPSNTPSAEADWSPGLELHPDYKTWGPEQVCSFLRRGGFE
EPVLLKNIRENEITGALLPCLDESRFENLGVSSLGERKKLLSYIQRLVQIHVDTMKVIND
PIHGHIELHPLLVRIIDTPQFQRLRYIKQLGGGYYVFPGASHNRFEHSLGVGYLAGCLVH
ALGEKQPELQISERDVLCVQIAGLCHDLGHGPFSHMFDGRFIPLARPEVKWTHEQGSVMM
FEHLINSNGIKPVMEQYGLIPEEDICFIKEQIVGPLESPVEDSLWPYKGRPENKSFLYEI
VSNKRNGIDVDKWDYFARDCHHLGIQNNFDYKRFIKFARVCEVDNELRICARDKEVGNLY
DMFHTRNSLHRRAYQHKVGNIIDTMITDAFLKADDYIEITGAGGKKYRISTAIDDMEAYT
KLTDNIFLEILYSTDPKLKDAREILKQIEYRNLFKYVGETQPTGQIKIKREDYESLPKEV
ASAKPKVLLDVKLKAEDFIVDVINMDYGMQEKNPIDHVSFYCKTAPNRAIRITKNQVSQL
LPEKFAEQLIRVYCKKVDRKSLYAARQYFVQWCADRNFTKPQDGDVIAPLITPQKKEWND
STSVQNPTRLREASKSRVQLFKDDPM
NT seq 1881 nt   +upstreamnt  +downstreamnt
atgcagcgagccgattccgagcagccctccaagcgtccccgttgcgatgacagcccgaga
accccctcaaacaccccttccgcagaggcagactggtccccgggcctggaactccatccc
gactacaagacatggggtccggagcaggtgtgctccttcctcaggcgcggtggctttgaa
gagccggtgctgctgaagaacatccgagaaaatgaaatcacaggcgcattactgccttgt
cttgatgagtctcgttttgaaaatcttggagtaagttccttgggggagaggaagaagctg
cttagttatatccagcgattggttcaaatccacgttgatacaatgaaggtaattaatgat
cctatccatggccacattgagctccaccctctcctcgtccgaatcattgatacacctcaa
tttcaacgtcttcgatacatcaaacagctgggaggtggttactatgtttttccaggagct
tcacacaatcgatttgagcatagtctaggggtggggtatctagcaggatgtctagttcac
gcactgggtgaaaaacaaccagagctgcagataagtgaacgagatgttctctgtgttcag
attgctggactttgtcatgatctcggtcatgggccattttctcacatgtttgatggacga
tttattccacttgctcgcccggaggtgaaatggacgcatgaacaaggctcagttatgatg
tttgagcaccttattaattctaatggaattaagcctgtcatggaacaatatggtctcatc
cctgaagaagatatttgctttataaaggaacaaattgtaggaccacttgaatcacctgtc
gaagattcattgtggccatataaagggcgtcctgaaaacaaaagcttcctttatgagata
gtatctaataaaagaaatggcattgatgtggacaaatgggattattttgccagggactgc
catcatcttggaatccaaaataattttgattacaagcgctttattaagtttgcccgtgtc
tgtgaagtagacaatgagttgcgtatttgtgctagagataaggaagttggaaatctgtat
gacatgttccacactcgcaactctttacaccgtagagcttatcaacacaaagttggcaac
attattgatacaatgattacagatgctttcctcaaagcagatgactacatagagattaca
ggtgctggaggaaaaaagtatcgcatttctacagcaattgacgacatggaagcctatact
aagctgacagataacatttttctggagattttatactctactgatcccaaattgaaagac
gcacgagagattttaaaacaaattgaataccgtaatctattcaagtatgtgggtgagacg
cagccaacaggacaaataaagattaaaagggaggactatgaatctcttccaaaagaggtt
gccagtgctaaacccaaagtattgctagacgtgaaactgaaggctgaagattttatagtg
gatgttatcaacatggattatggaatgcaagaaaagaatccaattgatcatgttagcttc
tattgtaagactgcccccaacagagcaatcaggattactaaaaaccaggtttcacaactt
ctgccagagaaatttgcagagcagctgattcgagtatattgtaagaaggtggacagaaag
agtttgtatgccgcaagacaatattttgttcagtggtgtgcagacagaaatttcaccaag
ccgcaggatggcgatgttatagccccactcataacacctcaaaaaaaggaatggaacgac
agtacttcagtccaaaatccaactcgcctccgagaagcatccaaaagcagagtccagctt
tttaaagatgacccaatgtga

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