KEGG T01001: 64421

Homo sapiens (human): 64421

Entry

64421             CDS       T01001

Symbol

DCLRE1C, A-SCID, DCLREC1C, RS-SCID, SCIDA, SNM1C

Name

(RefSeq) DNA cross-link repair 1C

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:

NCBI-ProteinID:

OMIM:

HGNC:

Ensembl:

Pharos:

Q96SD1(Tbio)

UniProt:

Q96SD1

Structure

LinkDB

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

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