Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9937
Gene name	DNA cross-link repair 1A
Gene symbol	DCLRE1A
Synonyms (NCBI Gene)	PSO2SNM1SNM1A
Chromosome	10
Chromosome location	10q25.3
Summary	This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alterna

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miRTarBase ID	miRNA	Experiments	Reference
MIRT041129	hsa-miR-503-5p	CLASH	23622248
MIRT926205	hsa-miR-1915	CLIP-seq
MIRT926206	hsa-miR-3692	CLIP-seq
MIRT926207	hsa-miR-4270	CLIP-seq
MIRT926208	hsa-miR-433	CLIP-seq
MIRT926209	hsa-miR-4441	CLIP-seq
MIRT926210	hsa-miR-4539	CLIP-seq
MIRT926211	hsa-miR-4726-3p	CLIP-seq
MIRT926212	hsa-miR-520g	CLIP-seq
MIRT926213	hsa-miR-520h	CLIP-seq
MIRT1974408	hsa-miR-1322	CLIP-seq
MIRT1974409	hsa-miR-29a	CLIP-seq
MIRT1974410	hsa-miR-29b	CLIP-seq
MIRT1974411	hsa-miR-29c	CLIP-seq
MIRT1974412	hsa-miR-3065-3p	CLIP-seq
MIRT1974413	hsa-miR-3130-5p	CLIP-seq
MIRT1974414	hsa-miR-362-5p	CLIP-seq
MIRT1974415	hsa-miR-3682-3p	CLIP-seq
MIRT1974416	hsa-miR-4291	CLIP-seq
MIRT1974417	hsa-miR-4482	CLIP-seq
MIRT1974418	hsa-miR-4663	CLIP-seq
MIRT1974419	hsa-miR-4728-3p	CLIP-seq
MIRT1974420	hsa-miR-500b	CLIP-seq
MIRT1974421	hsa-miR-501-5p	CLIP-seq
MIRT1974422	hsa-miR-935	CLIP-seq
MIRT926205	hsa-miR-1915	CLIP-seq
MIRT926206	hsa-miR-3692	CLIP-seq
MIRT926207	hsa-miR-4270	CLIP-seq
MIRT926209	hsa-miR-4441	CLIP-seq
MIRT926211	hsa-miR-4726-3p	CLIP-seq
MIRT926212	hsa-miR-520g	CLIP-seq
MIRT926213	hsa-miR-520h	CLIP-seq
MIRT2679063	hsa-miR-3163	CLIP-seq
MIRT2679064	hsa-miR-4789-5p	CLIP-seq
MIRT2679065	hsa-miR-548n	CLIP-seq
MIRT2679066	hsa-miR-548t	CLIP-seq
MIRT2679067	hsa-miR-561	CLIP-seq
MIRT2679068	hsa-miR-598	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001650	Component	Fibrillar center	IDA
GO:0003677	Function	DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	IBA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008800	Function	Beta-lactamase activity	IDA	31434986
GO:0016787	Function	Hydrolase activity	IEA
GO:0035312	Function	5'-3' DNA exonuclease activity	IBA
GO:0035312	Function	5'-3' DNA exonuclease activity	IDA	22692201
GO:0036297	Process	Interstrand cross-link repair	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051301	Process	Cell division	IEA

MIM	HGNC	e!Ensembl
609682	17660	ENSG00000198924

Q6PJP8

Protein name

DNA cross-link repair 1A protein (Beta-lactamase DCLRE1A) (EC 3.5.2.6) (SNM1 homolog A) (hSNM1) (hSNM1A)

Protein function

May be required for DNA interstrand cross-link repair. Also required for checkpoint mediated cell cycle arrest in early prophase in response to mitotic spindle poisons. Possesses beta-lactamase activity, catalyzing the hydrolysis of penicillin G

PDB

4B87 , 5AHR , 5NZW , 5NZX , 5NZY , 5Q1J , 5Q1K , 5Q1L , 5Q1M , 5Q1N , 5Q1O , 5Q1P , 5Q1Q , 5Q1R , 5Q1S , 5Q1T , 5Q1U , 5Q1V , 5Q1W , 5Q1X , 5Q1Y , 5Q1Z , 5Q20 , 5Q22 , 5Q23 , 5Q24 , 5Q25 , 5Q26 , 5Q27 , 5Q28 , 5Q29 , 5Q2A , 5Q2B , 5Q2C , 5Q2D , 5Q2E , 5Q2F , 5Q2G , 5Q2H , 5Q2I , 5Q2J , 5Q2K , 5Q2L , 5Q2M , 5Q2N , 5Q2O , 5Q2P , 5Q2Q , 5Q2R , 5Q2S , 5Q2T

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07522	DRMBL	914 → 1020	DNA repair metallo-beta-lactamase	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, heart, kidney, liver, pancreas, placenta and skeletal muscle. {ECO:0000269|PubMed:12446782}.

Sequence

MLEDISEEDIWEYKSKRKPKRVDPNNGSKNILKSVEKATDGKYQSKRSRNRKRAAEAKEV
KDHEVPLGNAGCQTSVASSQNSSCGDGIQQTQDKETTPGKLCRTQKSQHVSPKIRPVYDG
YCPNCQMPFSSLIGQTPRWHVFECLDSPPRSETECPDGLLCTSTIPFHYKRYTHFLLAQS
RAGDHPFSSPSPASGGSFSETKSGVLCSLEERWSSYQNQTDNSVSNDPLLMTQYFKKSPS
LTEASEKISTHIQTSQQALQFTDFVENDKLVGVALRLANNSEHINLPLPENDFSDCEISY
SPLQSDEDTHDIDEKPDDSQEQLFFTESSKDGSLEEDDDSCGFFKKRHGPLLKDQDESCP
KVNSFLTRDKYDEGLYRFNSLNDLSQPISQNNESTLPYDLACTGGDFVLFPPALAGKLAA
SVHQATKAKPDEPEFHSAQSNKQKQVIEESSVYNQVSLPLVKSLMLKPFESQVEGYLSSQ
PTQNTIRKLSSENLNAKNNTNSACFCRKALEGVPVGKATILNTENLSSTPAPKYLKILPS
GLKYNARHPSTKVMKQMDIGVYFGLPPKRKEEKLLGESALEGINLNPVPSPNQKRSSQCK
RKAEKSLSDLEFDASTLHESQLSVELSSERSQRQKKRCRKSNSLQEGACQKRSDHLINTE
SEAVNLSKVKVFTKSAHGGLQRGNKKIPESSNVGGSRKKTCPFYKKIPGTGFTVDAFQYG
VVEGCTAYFLTHFHSDHYAGLSKHFTFPVYCSEITGNLLKNKLHVQEQYIHPLPLDTECI
VNGVKVVLLDANHCPGAVMILFYLPNGTVILHTGDFRADPSMERSLLADQKVHMLYLDTT
YCSPEYTFPSQQEVIRFAINTAFEAVTLNPHALVVCGTYSIGKEKVFLAIADVLGSKVGM
SQEKYKTLQCLNIPEINSLITTDMCSSLVHLLPMMQINFKGLQSHLKKCGGKYNQILAFR
PTGWTHSNKFTRIADVIPQTKGNISIYGIPYSEHSSYLEMKRFVQWLKPQKIIPTVNVGT
WKSRSTMEKYFREWKLEAGY

Sequence length

1040

Interactions

View interactions

	Reactome
			Fanconi Anemia Pathway

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARCINOMA, BASAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	30947698	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31650563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	1719394, 18180189, 22912599, 9806498		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	18180189, 22912599, 9806498		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27806724	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	30114658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	30114658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	12055248		★★★★★ ★☆☆☆☆ Found in Text Mining only
SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE	Severe combined immunodeficiency disease	BEFREE	12055248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	16774934		★★★★★ ★☆☆☆☆ Found in Text Mining only

DCLRE1A (DNA cross-link repair 1A)