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DCLRE1C

GENERAL INFORMATION

Gene name

 DCLRE1C

Gene description

 DNA cross-link repair 1C

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 13
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Mixed
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

DATA RELIABILITY

Reliability score

 Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 DCLRE1C (HGNC Symbol)

Synonyms

 A-SCID, ARTEMIS, FLJ11360, SCIDA, SNM1C

Description

 DNA cross-link repair 1C (HGNC Symbol)

Entrez gene summary

 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 also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Chromosome

 10

Cytoband

 p13

Chromosome location (bp)

 14897359 - 14954432

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000152457 (version 83.38)

Entrez gene

 64421

UniProt

 Q96SD1 (UniProt - Evidence at protein level)

neXtProt

 NX_Q96SD1

Antibodypedia

 DCLRE1C antibodies

PROTEIN BROWSER
«
DCLRE1C-001
DCLRE1C-002
DCLRE1C-003
DCLRE1C-004
DCLRE1C-005
DCLRE1C-006
DCLRE1C-007
DCLRE1C-008
DCLRE1C-009
DCLRE1C-010
DCLRE1C-011
DCLRE1C-012
DCLRE1C-013
»

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DCLRE1C-001
ENSP00000367492
ENST00000378246
Q96SD1 [Direct mapping]
Protein artemis
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000014 [single-stranded DNA endodeoxyribonuclease activity]
GO:0000715 [nucleotide-excision repair, DNA damage recognition]
GO:0000784 [nuclear chromosome, telomeric region]
GO:0002250 [adaptive immune response]
GO:0003684 [damaged DNA binding]
GO:0004519 [endonuclease activity]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0008409 [5'-3' exonuclease activity]
GO:0031848 [protection from non-homologous end joining at telomere]
GO:0035312 [5'-3' exodeoxyribonuclease activity]
GO:0036297 [interstrand cross-link repair]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
 577 aa
65.3 kDa 		No 0
DCLRE1C-002
ENSP00000350349
ENST00000357717
Q96SD1 [Direct mapping]
Protein artemis
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000014 [single-stranded DNA endodeoxyribonuclease activity]
GO:0000715 [nucleotide-excision repair, DNA damage recognition]
GO:0000784 [nuclear chromosome, telomeric region]
GO:0002250 [adaptive immune response]
GO:0003684 [damaged DNA binding]
GO:0004519 [endonuclease activity]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0008409 [5'-3' exonuclease activity]
GO:0031848 [protection from non-homologous end joining at telomere]
GO:0035312 [5'-3' exodeoxyribonuclease activity]
GO:0036297 [interstrand cross-link repair]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
 577 aa
65.3 kDa 		No 0
DCLRE1C-003
ENSP00000367496
ENST00000378249
Q96SD1 [Direct mapping]
Protein artemis
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000014 [single-stranded DNA endodeoxyribonuclease activity]
GO:0000715 [nucleotide-excision repair, DNA damage recognition]
GO:0000784 [nuclear chromosome, telomeric region]
GO:0002250 [adaptive immune response]
GO:0003684 [damaged DNA binding]
GO:0004519 [endonuclease activity]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0008409 [5'-3' exonuclease activity]
GO:0031848 [protection from non-homologous end joining at telomere]
GO:0035312 [5'-3' exodeoxyribonuclease activity]
GO:0036297 [interstrand cross-link repair]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
 577 aa
65.3 kDa 		No 0
DCLRE1C-004
ENSP00000380030
ENST00000396817
Q96SD1 [Direct mapping]
Protein artemis
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000014 [single-stranded DNA endodeoxyribonuclease activity]
GO:0000715 [nucleotide-excision repair, DNA damage recognition]
GO:0000784 [nuclear chromosome, telomeric region]
GO:0002250 [adaptive immune response]
GO:0003684 [damaged DNA binding]
GO:0004519 [endonuclease activity]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0008409 [5'-3' exonuclease activity]
GO:0031848 [protection from non-homologous end joining at telomere]
GO:0035312 [5'-3' exodeoxyribonuclease activity]
GO:0036297 [interstrand cross-link repair]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
 572 aa
64.7 kDa 		No 0
DCLRE1C-005
ENSP00000367503
ENST00000378255
Q96SD1 [Direct mapping]
Protein artemis
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000014 [single-stranded DNA endodeoxyribonuclease activity]
GO:0000715 [nucleotide-excision repair, DNA damage recognition]
GO:0000784 [nuclear chromosome, telomeric region]
GO:0002250 [adaptive immune response]
GO:0003684 [damaged DNA binding]
GO:0004519 [endonuclease activity]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0008409 [5'-3' exonuclease activity]
GO:0031848 [protection from non-homologous end joining at telomere]
GO:0035312 [5'-3' exodeoxyribonuclease activity]
GO:0036297 [interstrand cross-link repair]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
 572 aa
64.7 kDa 		No 0
DCLRE1C-006
ENSP00000367502
ENST00000378254
Q96SD1 [Direct mapping]
Protein artemis
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000014 [single-stranded DNA endodeoxyribonuclease activity]
GO:0000715 [nucleotide-excision repair, DNA damage recognition]
GO:0000784 [nuclear chromosome, telomeric region]
GO:0002250 [adaptive immune response]
GO:0003684 [damaged DNA binding]
GO:0004519 [endonuclease activity]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0008409 [5'-3' exonuclease activity]
GO:0031848 [protection from non-homologous end joining at telomere]
GO:0035312 [5'-3' exodeoxyribonuclease activity]
GO:0036297 [interstrand cross-link repair]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
 572 aa
64.7 kDa 		No 0
DCLRE1C-007
ENSP00000367506
ENST00000378258
Q96SD1 [Direct mapping]
Protein artemis
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000014 [single-stranded DNA endodeoxyribonuclease activity]
GO:0000715 [nucleotide-excision repair, DNA damage recognition]
GO:0000784 [nuclear chromosome, telomeric region]
GO:0002250 [adaptive immune response]
GO:0003684 [damaged DNA binding]
GO:0004519 [endonuclease activity]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0008409 [5'-3' exonuclease activity]
GO:0031848 [protection from non-homologous end joining at telomere]
GO:0035312 [5'-3' exodeoxyribonuclease activity]
GO:0036297 [interstrand cross-link repair]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
 572 aa
64.7 kDa 		No 0
DCLRE1C-008
ENSP00000367538
ENST00000378289
Q96SD1 [Direct mapping]
Protein artemis
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000014 [single-stranded DNA endodeoxyribonuclease activity]
GO:0000715 [nucleotide-excision repair, DNA damage recognition]
GO:0000784 [nuclear chromosome, telomeric region]
GO:0002250 [adaptive immune response]
GO:0003684 [damaged DNA binding]
GO:0004519 [endonuclease activity]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0008409 [5'-3' exonuclease activity]
GO:0031848 [protection from non-homologous end joining at telomere]
GO:0035312 [5'-3' exodeoxyribonuclease activity]
GO:0036297 [interstrand cross-link repair]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
 434 aa
49.9 kDa 		No 0
DCLRE1C-009
ENSP00000367527
ENST00000378278
Q96SD1 [Direct mapping]
Protein artemis
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000014 [single-stranded DNA endodeoxyribonuclease activity]
GO:0000715 [nucleotide-excision repair, DNA damage recognition]
GO:0000723 [telomere maintenance]
GO:0000784 [nuclear chromosome, telomeric region]
GO:0002250 [adaptive immune response]
GO:0003684 [damaged DNA binding]
GO:0004519 [endonuclease activity]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006302 [double-strand break repair]
GO:0006303 [double-strand break repair via nonhomologous end joining]
GO:0006310 [DNA recombination]
GO:0008409 [5'-3' exonuclease activity]
GO:0010212 [response to ionizing radiation]
GO:0030183 [B cell differentiation]
GO:0031848 [protection from non-homologous end joining at telomere]
GO:0033151 [V(D)J recombination]
GO:0035312 [5'-3' exodeoxyribonuclease activity]
GO:0036297 [interstrand cross-link repair]
GO:0051276 [chromosome organization]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
 692 aa
78.4 kDa 		No 0
DCLRE1C-010
ENSP00000367488
ENST00000378242
B3KSJ7 [Direct mapping]
Protein artemis; cDNA FLJ36438 fis, clone THYMU2012113, highly similar to Artemis protein (EC 3.1.-.-)
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 345 aa
38.4 kDa 		No 0
DCLRE1C-011
ENSP00000391428
ENST00000418843
X6RCQ3 [Direct mapping]
Protein artemis
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 117 aa
13.7 kDa 		No 0
DCLRE1C-012
ENSP00000413180
ENST00000456122
X6RJV5 [Direct mapping]
Protein artemis
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 57 aa
6.5 kDa 		No 0
DCLRE1C-013
ENSP00000367487
ENST00000378241
X6R9W9 [Direct mapping]
Protein artemis
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 84 aa
9.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.