KEGG   Homo sapiens (human): 25939
Entry
25939             CDS       T01001                                 
Symbol
SAMHD1, CHBL2, DCIP, HDDC1, MOP-5, SBBI88, hSAMHD1
Name
(RefSeq) deoxynucleoside triphosphate triphosphohydrolase SAMHD1 isoform 1
  KO
K22544  deoxynucleoside triphosphate triphosphohydrolase SAMHD1 [EC:3.1.5.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03250  Viral life cycle - HIV-1
hsa04623  Cytosolic DNA-sensing pathway
hsa05170  Human immunodeficiency virus 1 infection
Network
nt06520  CGAS-STING signaling
  Element
N01573  SAMHD1-mediated dNTP degradation
Disease
H00290  Aicardi-Goutieres syndrome
H00291  Familial chilblain lupus (FCL)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09125 Information processing in viruses
   03250 Viral life cycle - HIV-1
    25939 (SAMHD1)
 09150 Organismal Systems
  09151 Immune system
   04623 Cytosolic DNA-sensing pathway
    25939 (SAMHD1)
 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)
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 SAM_Ste50p PDEase_I
Other DBs
NCBI-GeneID: 25939
NCBI-ProteinID: NP_056289
OMIM: 606754
HGNC: 15925
Ensembl: ENSP00000493536.2
UniProt: Q9Y3Z3 Q59H15
Structure
Position
20:complement(36889773..36951708)
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

  All links  
Disease (3)   
   OMIM (3)   
Gene (24)   
   RefGene (17)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (35)   
   RefSeq(nuc) (3)   
   GenBank (16)   
   EMBL (16)   
3D Structure (76)   
   PDB (76)   
Protein domain (5)   
   Pfam (5)   
All databases (149)   

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