KEGG   Homo sapiens (human): 80010
Entry
80010             CDS       T01001                                 
Symbol
RMI1, BLAP75, C9orf76, FAAP75
Name
(RefSeq) RecQ mediated genome instability 1
  KO
K10990  RecQ-mediated genome instability protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa03460  Fanconi anemia pathway
Network
nt06506  Double-strand break repair
  Element
N01447  Double Holliday junction dissolution
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03460 Fanconi anemia pathway
    80010 (RMI1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    80010 (RMI1)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   HR (homologous recombination)
    Bloom's syndrome complex (BTR)
     80010 (RMI1)
   FA (Fanconi anemia) pathway
     80010 (RMI1)
SSDB
Motif
Pfam: RMI1_C RMI1_N_C RMI1_N_N DUF4672 Rbx_binding
Other DBs
NCBI-GeneID: 80010
NCBI-ProteinID: NP_079221
OMIM: 610404
HGNC: 25764
Ensembl: ENSG00000178966
UniProt: Q9H9A7
Structure
Position
9:83980359..84004074
AA seq 625 aa
MNVTSIALRAETWLLAAWHVKVPPMWLEACINWIQEENNNVNLSQAQMNKQVFEQWLLTD
LRDLEHPLLPDGILEIPKGELNGFYALQINSLVDVSQPAYSQIQKLRGKNTTNDLVTAEA
QVTPKPWEAKPSRMLMLQLTDGIVQIQGMEYQPIPILHSDLPPGTKILIYGNISFRLGVL
LLKPENVKVLGGEVDALLEEYAQEKVLARLIGEPDLVVSVIPNNSNENIPRVTDVLDPAL
GPSDEELLASLDENDELTANNDTSSERCFTTGSSSNTIPTRQSSFEPEFVISPRPKEEPS
NLSIHVMDGELDDFSLEEALLLEETVQKEQMETKELQPLTFNRNADRSIERFSHNPNTTN
NFSLTCKNGNNNWSEKNVSEQMTNEDKSFGCPSVRDQNRSIFSVHCNVPLAHDFTNKEKN
LETDNKIKQTSSSDSHSLNNKILNREVVNYVQKRNSQISNENDCNLQSCSLRSSENSINL
SIAMDLYSPPFVYLSVLMASKPKEVTTVKVKAFIVTLTGNLSSSGGIWSITAKVSDGTAY
LDVDFVDEILTSLIGFSVPEMKQSKKDPLQYQKFLEGLQKCQRDLIDLCCLMTISFNPSL
SKAMVLALQDVNMEHLENLKKRLNK
NT seq 1878 nt   +upstreamnt  +downstreamnt
atgaatgtgactagtattgcattaagagctgaaacttggcttttagctgcatggcatgtt
aaagtacctccgatgtggctggaagcttgtattaactggattcaagaagaaaataataat
gttaacttgagtcaggcccaaatgaataaacaagtgtttgagcagtggctccttactgat
ctgagggatttggagcatcctcttttacccgatggcattttagaaattccaaaaggagaa
ttaaatggattttatgctctgcagattaattccttggttgatgtaagtcagcctgcatac
tcccagatacagaagttgagaggaaagaatacaacaaatgatctagttacagctgaagca
caagtaaccccaaaaccttgggaagcaaagccttcacgaatgttgatgctgcagctaact
gatggaatcgtacaaatacagggaatggaatatcagcctattccaattcttcatagtgat
cttcctccaggtacaaaaattttgatttatggaaatatatctttccgtcttggtgttctc
ttattgaaaccagaaaacgtgaaagtgttaggaggtgaagtagatgctcttttagaagaa
tatgcccaagaaaaagtacttgcaagattaataggggaacctgatcttgtagtttcagtc
ataccaaacaattctaacgaaaacattcccagagttacagatgttctagatcctgcatta
ggtccttctgatgaagaactcttggcaagtcttgatgaaaatgatgagcttacagcaaat
aatgacacttcctcagaacgatgtttcaccacaggtagttcctcaaataccattcccaca
agacagtcaagttttgagccagaatttgttatttctccaagaccaaaagaggaaccatca
aacctatctatacatgtaatggatggagaattagatgacttttcactggaggaggccttg
cttttagaagaaactgtccagaaagaacagatggaaactaaggaattgcaaccattgact
tttaacagaaatgccgatcgaagtatagagagattttcacataatcctaatactacgaat
aacttttctttgacttgcaaaaatggaaacaataattggagtgaaaaaaatgtatctgaa
caaatgactaatgaagacaaatcatttggttgtccatctgttagagaccaaaacaggagt
attttttcagttcattgtaatgtacccttagcccatgattttacaaataaagaaaagaac
ttagagacagataataaaataaaacaaaccagcagttcagatagccattccttaaataat
aaaatattaaatagagaggtggtcaactatgtacagaaaaggaattcacaaatttctaat
gaaaatgattgtaatttacagagttgttctttaagatcatcagagaatagcattaatctt
tctattgccatggatttgtattctccaccctttgtctatttgtctgttctaatggccagc
aaaccaaaggaagttacaacagtgaaagtgaaagcatttattgtaaccttaactggaaat
ctctcaagttctggtggtatttggagtataactgcaaaggtgtctgatggtactgcatat
ctagatgtagactttgtggatgaaatacttactagcttgatagggttctcagtaccagaa
atgaaacagtcaaaaaaggatcctcttcaataccaaaagttcctggaagggttgcagaaa
tgtcaaagagatctaatagatttgtgctgtctaatgactatttcatttaatccttccttg
tctaaagcaatggtactggcattacaagatgttaatatggaacaccttgagaatctaaag
aagcggttaaataaataa

  All links  
Disease (1)   
   OMIM (1)   
Gene (21)   
   RefGene (12)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (9)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (29)   
   RefSeq(nuc) (7)   
   GenBank (11)   
   EMBL (11)   
3D Structure (7)   
   PDB (7)   
Protein domain (5)   
   Pfam (5)   
All databases (72)   

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