• Gene id: 64421

Gene Summary

• Gene Symbol: DCLRE1C   Gene   UCSC   Ensembl
• Aliases: A-SCID, DCLREC1C, RS-SCID, SCIDA, SNM1C
• Gene name: DNA cross-link repair 1C
• Alternate names: protein artemis, DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae), SNM1 homolog C, SNM1-like protein, severe combined immunodeficiency, type a (Athabascan),
• Gene location: 10p13 (14954431: 14897358)     Exons: 20     NC_000010.11
• Gene summary(Entrez): This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein
• OMIM: 605988

Protein Summary

• Protein general information: Q96SD1  
  • Name: Protein artemis (EC 3.1. . ) (DNA cross link repair 1C protein) (Protein A SCID) (SNM1 homolog C) (hSNM1C) (SNM1 like protein)
  • Length: 692  
  • Mass: 78436
  • Tissue specificity: Ubiquitously expressed, with highest levels in the kidney, lung, pancreas and placenta (at the mRNA level). Expression is not increased in thymus or bone marrow, sites of V(D)J recombination. {ECO
• Sequence:

  MSSFEGQMAEYPTISIDRFDRENLRARAYFLSHCHKDHMKGLRAPTLKRRLECSLKVYLYCSPVTKELLLTSPKY
  RFWKKRIISIEIETPTQISLVDEASGEKEEIVVTLLPAGHCPGSVMFLFQGNNGTVLYTGDFRLAQGEAARMELL
  HSGGRVKDIQSVYLDTTFCDPRFYQIPSREECLSGVLELVRSWITRSPYHVVWLNCKAAYGYEYLFTNLSEELGV
  QVHVNKLDMFRNMPEILHHLTTDRNTQIHACRHPKAEEYFQWSKLPCGITSRNRIPLHIISIKPSTMWFGERSRK
  TNVIVRTGESSYRACFSFHSSYSEIKDFLSYLCPVNAYPNVIPVGTTMDKVVEILKPLCRSSQSTEPKYKPLGKL
  KRARTVHRDSEEEDDYLFDDPLPIPLRHKVPYPETFHPEVFSMTAVSEKQPEKLRQTPGCCRAECMQSSRFTNFV
  DCEESNSESEEEVGIPASLQGDLGSVLHLQKADGDVPQWEVFFKRNDEITDESLENFPSSTVAGGSQSPKLFSDS
  DGESTHISSQNSSQSTHITEQGSQGWDSQSDTVLLSSQERNSGDITSLDKADYRPTIKENIPASLMEQNVICPKD
  TYSDLKSRDKDVTIVPSTGEPTTLSSETHIPEEKSLLNLSTNADSQSSSDFEVPSTPEAELPKREHLQYLYEKLA
  TGESIAVKKRKCSLLDT

• Structural information:
  • Interpro: IPR011084  IPR001279  IPR036866  
  • PDB: 3W1B 3W1G 4HTP
  • PDBsum: 3W1B 3W1G 4HTP
  • STRING: ENSP00000367527
• Other Databases: GeneCards:  DCLRE1C  Malacards:  DCLRE1C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036297	interstrand cross-link repair	IBA	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	IBA	biological process
GO:0035312	5'-3' exodeoxyribonuclease activity	IBA	molecular function
GO:0031848	protection from non-homologous end joining at telomere	IBA	biological process
GO:0003684	damaged DNA binding	IBA	molecular function
GO:0000784	nuclear chromosome, telomeric region	IBA	cellular component
GO:0070419	nonhomologous end joining complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0004527	exonuclease activity	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0008409	5'-3' exonuclease activity	IDA	molecular function
GO:0000014	single-stranded DNA endodeoxyribonuclease activity	IDA	molecular function
GO:0004519	endonuclease activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033151	V(D)J recombination	IEA	biological process
GO:0030183	B cell differentiation	IEA	biological process
GO:0000723	telomere maintenance	IEA	biological process
GO:0051276	chromosome organization	IEA	biological process
GO:0010212	response to ionizing radiation	IEA	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0006302	double-strand break repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05340	Primary immunodeficiency
hsa03450	Non-homologous end-joining

Diseases

Associated diseases	References
T-B-Severe combined immunodeficiency	KEGG:H00092
T-B-Severe combined immunodeficiency	KEGG:H00092
common variable immunodeficiency	PMID:26476407
severe combined immunodeficiency	PMID:11336668
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray