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FLASH GENE

Symbol

DCLRE1A

contributors: mct/ - updated : 07-11-2015

HGNC name	DNA cross-link repair 1A
HGNC id	17660

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	19.38 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D10S1347E - D10S1306E - DLCRE1A - D10S592 - D10S554 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014881 9 - 4468 NP_055696 - 1040 - 2008 18848520

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth tongue     highly Endocrine parathyroid       highly Reproductive female system uterus cervix   highly Respiratory respiratory tract trachea     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	domain constituting a metal dependent hydrolase
	a metallo-beta-lactamase and beta-CASP domains
	a functional PIP box (PCNA-interacting protein box)
	a UBZ (ubiquitin binding zinc finger), required for assembly of DLCRE1A into nuclear focus

HOMOLOGY

interspecies	homolog to murine SNM1
	homolog to yeast Pso2

Homologene

FAMILY	DNA repair metallo-beta-lactamase (DRMBL) family
	beta-CASP family
	SNM1 family of nucleases
	extended family of eukaryotic nuclease containing a motif related to the prokaryotic metallo-beta-lactamase (MBL) fold

CATEGORY

enzyme , DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome
	intracellular,nucleus,nucleolus

basic FUNCTION	putative hydrolase, involved in V(D)J recombination/DNA repair
	functioning in DNA repair, V(D)J recombination and RNA processing
	represent a second pathway for genome stability, distinct from the Fanconi anemia pathway
	having exonuclease activity which requires the conserved beta-lactamase domain
	functioning in an early mitotic stress checkpoint that is distinct from the well-characterized spindle checkpoint that regulates the metaphase-to-anaphase transition
	acting with ATM to promote the G1 cell cycle checkpoint
	have the surprising function of being involved in an early mitotic or prophase checkpoint in response to spindle stress, a role that does not appear to involve a DNA damage response
	DLCRE1A and DLCRE1B participate in etoposide-induced apoptosis
	DLCRE1A and DLCRE1B act before mitochondria and caspase activation during apoptosis
	DCLRE1A and DCLRE1B might exhibit some redundancy in interstrand cross-link repair
	DCLRE1A has greater affinity for single-stranded DNA over double-stranded DNA that is not observed with DCLRE1B
	is a key exonuclease during replication-dependent and transcription-coupled interstrand crosslink repair
	remarkable ability of DCLRE1A to accommodate and efficiently digest highly distorted DNA substrates, such as those containing DNA lesions

CELLULAR PROCESS	nucleotide, recombination
	nucleotide, repair

PHYSIOLOGICAL PROCESS

text	double strand break repair and V(D)J recombination

PATHWAY

metabolism

signaling

RAD18-PCNA-DLCRE1A activation pathway appears to be independent of another DNA crosslink repair pathway, the FA (Fanconi anemia) pathway

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	interacts with PIAS1 in nuclear focus formation (interaction required for interstrand cross-link (ICL) repair)
	collaboration between DCLRE1A and ERCC4-ERCC1 is necessary to initiate ICL repair in replicating human cells
	ERCC6 coordinates the resolution of interstrand crosslink , possibly in a transcription-associated repair mechanism involving DCLRE1A, and defects in the process could contribute to the post-mitotic degenerative pathologies associated with Cockayne syndrome

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS