Apex1 MGI Mouse Gene Detail - MGI:88042 - apurinic/apyrimidinic endonuclease 1

Symbol

Apex1
Name

apurinic/apyrimidinic endonuclease 1
Synonyms

HAP1, Ref-1

Feature Type

protein coding gene
IDs

MGI:88042
NCBI Gene: 11792
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr14:51162425-51164596 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 14, 26.30 cM, cytoband C3
Mapping Data

2 experiments

SNPs within 2kb

116 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88042	protein coding gene	Chr14:51162406-51164645 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0021263	protein coding gene	Chr14:44878810-44880909 (+)
A/J	MGP_AJ_G0021217	protein coding gene	Chr14:43540499-43543280 (+)
AKR/J	MGP_AKRJ_G0021193	protein coding gene	Chr14:45185043-45187143 (+)
BALB/cJ	MGP_BALBcJ_G0021220	protein coding gene	Chr14:43655691-43658386 (+)
C3H/HeJ	MGP_C3HHeJ_G0021002	protein coding gene	Chr14:45009060-45011157 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021656	protein coding gene	Chr14:46713782-46715982 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019209	protein coding gene	Chr14:42871541-42873719 (+)
CAST/EiJ	MGP_CASTEiJ_G0020526	protein coding gene	Chr14:42067517-42069695 (+)
CBA/J	MGP_CBAJ_G0020969	protein coding gene	Chr14:48197912-48200043 (+)
DBA/2J	MGP_DBA2J_G0021093	protein coding gene	Chr14:43432716-43435099 (+)
FVB/NJ	MGP_FVBNJ_G0021074	protein coding gene	Chr14:43059364-43061581 (+)
LP/J	MGP_LPJ_G0021161	protein coding gene	Chr14:45171291-45174294 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021102	protein coding gene	Chr14:47680980-47683081 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021686	protein coding gene	Chr14:44670991-44673087 (+)
PWK/PhJ	MGP_PWKPhJ_G0020276	protein coding gene	Chr14:40334258-40336492 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0020101	protein coding gene	Chr14:40829664-40831857 (+)
WSB/EiJ	MGP_WSBEiJ_G0020579	protein coding gene	Chr14:44860781-44864490 (+)

Human Ortholog

APEX1, apurinic/apyrimidinic endodeoxyribonuclease 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

APEX1, apurinic/apyrimidinic endodeoxyribonuclease 1
Synonyms

APE, APE1, APEN, APEX, APX, HAP1, REF1
Links

HGNC:587

NCBI Gene ID: 328

neXtProt AC: NX_P27695

UniProt: P27695
Chr Location

14q11.2; chr14:20455191-20457772 (+) GRCh38

MGI Vertebrate Homology

Apex1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: APEX1
Gene Tree

Apex1

Diseases

9 with human APEX1 associations

				Human Disease	Mouse Models
				breast cancer IDs breast cancer DOID:1612 DOID:1648 DOID:4241 ICD10CM:C50 ICD9CM:174.8 MESH:D001943 NCI:C9335 OMIM:114480 UMLS_CUI:C0006142
				cervical cancer IDs cervical cancer DOID:4362 DOID:4361 ICD10CM:C53 ICD9CM:180 ICD9CM:180.9 MESH:D002583 NCI:C2940 NCI:C9311 OMIM:603956 UMLS_CUI:C0007847 UMLS_CUI:C0007873
				cervix carcinoma IDs cervix carcinoma DOID:2893 NCI:C9039 UMLS_CUI:C0302592
				endometrial cancer IDs endometrial cancer DOID:1380 DOID:5654 EFO:0004230 ICD10CM:C54.1 KEGG:05213 MESH:D016889 NCI:C27815 NCI:C3012 OMIM:608089 UMLS_CUI:C0007103 UMLS_CUI:C0014170
				myocardial infarction IDs myocardial infarction DOID:5844 EFO:0000612 ICD10CM:I21 MESH:D009203 NCI:C27996 OMIM:608557 UMLS_CUI:C0027051
				ovarian cancer IDs ovarian cancer DOID:2394 DOID:0060070 DOID:2144 DOID:9595 ICD10CM:C56 ICD9CM:183.0 MESH:D010051 NCI:C4984 NCI:C7431 OMIM:167000 OMIM:607893 ORDO:213500 ORDO:213517 UMLS_CUI:C0919267 UMLS_CUI:C1140680 UMLS_CUI:C1299247
				severe pre-eclampsia IDs severe pre-eclampsia DOID:13129 DOID:13130 DOID:13131 DOID:13132 ICD9CM:642.50 UMLS_CUI:C0156669
				spina bifida IDs spina bifida DOID:0080016 ICD10CM:Q05 MESH:D016135 NCI:C101214 UMLS_CUI:C0080178
				urinary bladder cancer IDs urinary bladder cancer DOID:11054 DOID:5428 ICD10CM:C67 ICD9CM:188 ICD9CM:188.9 KEGG:05219 MESH:D001749 NCI:C2901 NCI:C9334 OMIM:109800 UMLS_CUI:C0005684 UMLS_CUI:C0005695

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

33 phenotypes from 4 alleles in 4 genetic backgrounds
4 phenotypes from multigenic genotypes
32 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

18
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

3
Targeted

12
Genomic Mutations

1 involving Apex1
Incidental Mutations

APF
Find Mice (IMSR)

16 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E10 associated with abnormal embryogenesis.

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All GO Annotations

81
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1062
Tissues

72
cDNA Data

6
Literature Summary

14

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase apex1

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All Sequences

45
RefSeq

2
UniProt

5
CCDS

CCDS27027.1

Ensembl

ENSMUSG00000035960 (Evidence)
NCBI Gene

11792

			Length	Strain/Species	Flank
genomic	ENSMUSG00000035960	Ensembl Gene Model \| MGI Sequence Detail	2172	C57BL/6J	± kb
transcript	ENSMUST00000049411	Ensembl \| MGI Sequence Detail	1239	Not Applicable
polypeptide	ENSMUSP00000042602	Ensembl \| MGI Sequence Detail	317	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000004127 DNA-(apurinic or apyrimidinic site) endonuclease

(term hierarchy)
PDB

7CD5, 7CD6
EC

3.1.11.2, 3.1.21.-
InterPro Domains

IPR004808 AP endonuclease 1

IPR020847 AP endonuclease 1, binding site

IPR020848 AP endonuclease 1, conserved site

IPR005135 Endonuclease/exonuclease/phosphatase

IPR036691 Endonuclease/exonuclease/phosphatase superfamily
GlyGen

P28352 1 site, 1 O-linked glycan (1 site)

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All nucleic 14

Genomic 4

cDNA 6

Primer pair 3

Other 1

Microarray probesets 3

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MGD-MRK-1352

Summaries

All 93

Developmental Gene Expression 14

Gene Ontology 8

Phenotypes 32
Earliest

J:11535 Seki S, et al., cDNA and deduced amino acid sequence of a mouse DNA repair enzyme (APEX nuclease) with significant homology to Escherichia coli exonuclease III. J Biol Chem. 1991 Nov 5;266(31):20797-802
Latest

J:350733 Rios-Covian D, et al., A Novel Hypomorphic Apex1 Mouse Model Implicates Apurinic/Apyrimidinic Endonuclease 1 in Oxidative DNA Damage Repair in Gastric Epithelial Cells. Antioxid Redox Signal. 2023 Jan;38(1-3):183-197

TSS for Apex1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr125375	Chr14:51162406-51162422 (+)	-11 bp
Tssr125376	Chr14:51162428-51162461 (+)	20 bp
Tssr125377	Chr14:51162473-51162484 (+)	54 bp
Tssr125378	Chr14:51162634-51162692 (+)	238 bp
Tssr125379	Chr14:51164165-51164198 (+)	1,757 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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