DCLRE1C

GENE INFORMATION

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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 78.38)

Entrez gene

64421

UniProt

Q96SD1 (UniProt - Evidence at protein level)

neXtProt

NX_Q96SD1

Antibodypedia

DCLRE1C antibodies
 

PROTEIN VIEW

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 « 
 
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

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DCLRE1C-001 ENSP00000367492
ENST00000378246
Q96SD1
Show all »
Show » Show » 577 65.3 No 0
DCLRE1C-002 ENSP00000350349
ENST00000357717
Q96SD1
Show all »
Show » Show » 577 65.3 No 0
DCLRE1C-003 ENSP00000367496
ENST00000378249
Q96SD1
Show all »
Show » Show » 577 65.3 No 0
DCLRE1C-004 ENSP00000380030
ENST00000396817
Q96SD1
Show all »
Show » Show » 572 64.7 No 0
DCLRE1C-005 ENSP00000367503
ENST00000378255
Q96SD1
Show all »
Show » Show » 572 64.7 No 0
DCLRE1C-006 ENSP00000367502
ENST00000378254
Q96SD1
Show all »
Show » Show » 572 64.7 No 0
DCLRE1C-007 ENSP00000367506
ENST00000378258
Q96SD1
Show all »
Show » Show » 572 64.7 No 0
DCLRE1C-008 ENSP00000367538
ENST00000378289
Q96SD1
Show all »
Show » Show » 434 49.9 No 0
DCLRE1C-009 ENSP00000367527
ENST00000378278
Q96SD1
Show all »
Show » Show » 692 78.4 No 0
DCLRE1C-010 ENSP00000367488
ENST00000378242
B3KSJ7
Show all »
Show » 345 38.4 No 0
DCLRE1C-011 ENSP00000391428
ENST00000418843
X6RCQ3
Show all »
Show » 117 13.7 No 0
DCLRE1C-012 ENSP00000413180
ENST00000456122
X6RJV5
Show all »
Show » 57 6.5 No 0
DCLRE1C-013 ENSP00000367487
ENST00000378241
X6R9W9
Show all »
Show » 84 9.7 No 0