KEGG   Homo sapiens (human): 64421
Entry
64421             CDS       T01001                                 
Symbol
DCLRE1C, A-SCID, DCLREC1C, RS-SCID, SCIDA, SNM1C
Name
(RefSeq) DNA cross-link repair 1C
  KO
K10887  DNA cross-link repair 1C protein [EC:3.1.-.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03450  Non-homologous end-joining
hsa05340  Primary immunodeficiency
Network
nt06506  Double-strand break repair
  Element
N01445  Non-homologous end-joining
N01467  V(D)J recombination
Disease
H00092  T-B-Severe combined immunodeficiency
H02554  Omenn syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03450 Non-homologous end-joining
    64421 (DCLRE1C)
 09160 Human Diseases
  09163 Immune disease
   05340 Primary immunodeficiency
    64421 (DCLRE1C)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    64421 (DCLRE1C)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic type
  DSBR (double strand breaks repair)
   NHEJ (non-homologous end-joining)
    Other NHEJ factors
     64421 (DCLRE1C)
SSDB
Motif
Pfam: DRMBL Lactamase_B_2 Lactamase_B
Other DBs
NCBI-GeneID: 64421
NCBI-ProteinID: NP_001029027
OMIM: 605988
HGNC: 17642
Ensembl: ENSG00000152457
UniProt: Q96SD1
Structure
Position
10:complement(14897359..14954432)
AA seq 692 aa
MSSFEGQMAEYPTISIDRFDRENLRARAYFLSHCHKDHMKGLRAPTLKRRLECSLKVYLY
CSPVTKELLLTSPKYRFWKKRIISIEIETPTQISLVDEASGEKEEIVVTLLPAGHCPGSV
MFLFQGNNGTVLYTGDFRLAQGEAARMELLHSGGRVKDIQSVYLDTTFCDPRFYQIPSRE
ECLSGVLELVRSWITRSPYHVVWLNCKAAYGYEYLFTNLSEELGVQVHVNKLDMFRNMPE
ILHHLTTDRNTQIHACRHPKAEEYFQWSKLPCGITSRNRIPLHIISIKPSTMWFGERSRK
TNVIVRTGESSYRACFSFHSSYSEIKDFLSYLCPVNAYPNVIPVGTTMDKVVEILKPLCR
SSQSTEPKYKPLGKLKRARTVHRDSEEEDDYLFDDPLPIPLRHKVPYPETFHPEVFSMTA
VSEKQPEKLRQTPGCCRAECMQSSRFTNFVDCEESNSESEEEVGIPASLQGDLGSVLHLQ
KADGDVPQWEVFFKRNDEITDESLENFPSSTVAGGSQSPKLFSDSDGESTHISSQNSSQS
THITEQGSQGWDSQSDTVLLSSQERNSGDITSLDKADYRPTIKENIPASLMEQNVICPKD
TYSDLKSRDKDVTIVPSTGEPTTLSSETHIPEEKSLLNLSTNADSQSSSDFEVPSTPEAE
LPKREHLQYLYEKLATGESIAVKKRKCSLLDT
NT seq 2079 nt   +upstreamnt  +downstreamnt
atgagttctttcgaggggcagatggccgagtatccaactatctccatagaccgcttcgat
agggagaacctgagggcccgcgcctacttcctgtcccactgccacaaagatcacatgaaa
ggattaagagcccctaccttgaaaagaaggttggagtgcagcttgaaggtttatctatac
tgttcacctgtgactaaggagttgttgttaacgagcccgaaatacagattttggaagaaa
cgaattatatctattgaaatcgagactcctacccagatatctttagtggatgaagcatca
ggagagaaggaagagattgttgtgactctcttaccagctggtcactgtccgggatcagtt
atgtttttatttcagggcaataatggaactgtcctgtacacaggagacttcagattggcg
caaggagaagctgctagaatggagcttctgcactccgggggcagagtcaaagacatccaa
agtgtatatttggatactacgttctgtgatccaagattttaccaaattccaagtcgggag
gagtgtttaagtggagtcttagagctggtccgaagctggatcactcggagcccgtaccat
gttgtgtggctgaactgcaaagcggcttatggctatgaatatctgttcaccaaccttagt
gaagaattaggagtccaggttcatgtgaataagctagacatgtttaggaacatgcctgag
atccttcatcatctcacaacagaccgcaacactcagatccatgcatgccggcatcccaag
gcagaggaatattttcagtggagcaaattaccctgtggaattacttccagaaatagaatt
ccactccacataatcagcattaagccatccaccatgtggtttggagaaaggagcagaaaa
acaaatgtaattgtgaggactggagagagttcatacagagcttgtttttcttttcactcc
tcctacagtgagattaaagatttcttgagctacctctgtcctgtgaacgcatatccaaat
gtcattccagttggcacaactatggataaagttgtcgaaatcttaaagcctttatgccgg
tcttcccaaagtacggagccaaagtataaaccactgggaaaactgaagagagctagaaca
gttcaccgagactcagaggaggaagatgactatctctttgatgatcctctgccaatacct
ttaaggcacaaagttccatacccggaaacttttcaccctgaggtattttcaatgactgca
gtatcagaaaagcagcctgaaaaactgagacaaaccccaggatgctgcagagcagagtgt
atgcagagctctcgtttcacaaactttgtagattgtgaagaatccaacagtgaaagtgaa
gaagaagtaggaatcccagcttcactgcaaggagatctgggctctgtacttcacctgcaa
aaggctgatggggatgtaccccagtgggaagtattctttaaaagaaatgatgaaatcaca
gatgagagtttggaaaacttcccttcctccacagtggcagggggatctcagtcaccaaag
cttttcagtgactctgatggagaatcaactcacatctcctcccagaattcttcccagtca
acacacataacagaacaaggaagtcaaggctgggacagccaatctgatactgttttgtta
tcttcccaagagagaaacagtggggatattacttccttggacaaagctgactacagacca
acaatcaaagagaatattcctgcctctctcatggaacaaaatgtaatttgcccaaaggat
acttactctgatttgaaaagcagagataaagatgtgacaatagttcctagtactggagaa
ccaactactctaagcagtgagacacatatacccgaggaaaaaagtttgctaaatcttagc
acaaatgcagattcccagagctcttctgattttgaagttccctcaactccagaagctgag
ttacctaaacgagagcatttacaatatttatatgagaagctggcaactggtgagagtata
gcagtcaaaaaaagaaaatgctcactcttagatacctaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Network (3)   
   KEGG NETWORK (3)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (20)   
   KEGG ORTHOLOGY (1)   
   RefGene (11)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (27)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (25)   
DNA sequence (91)   
   RefSeq(nuc) (31)   
   GenBank (30)   
   EMBL (30)   
3D Structure (14)   
   PDB (14)   
Protein domain (3)   
   Pfam (3)   
All databases (168)   

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