Xrcc5 MGI Mouse Gene Detail - MGI:104517 - X-ray repair complementing defective repair in Chinese hamster cells 5

Symbol

Xrcc5
Name

X-ray repair complementing defective repair in Chinese hamster cells 5
Synonyms

Ku80, Ku86

Feature Type

protein coding gene
IDs

MGI:104517
NCBI Gene: 22596
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr1:72346586-72434111 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 36.50 cM, cytoband E
Mapping Data

6 experiments

SNPs within 2kb

939 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_104517	protein coding gene	Chr1:72346576-72434112 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016131	protein coding gene	Chr1:72807745-72898397 (+)
A/J	MGP_AJ_G0016114	protein coding gene	Chr1:70204799-70292707 (+)
AKR/J	MGP_AKRJ_G0016071	protein coding gene	Chr1:72219484-72310144 (+)
BALB/cJ	MGP_BALBcJ_G0016069	protein coding gene	Chr1:70336060-70424361 (+)
C3H/HeJ	MGP_C3HHeJ_G0015900	protein coding gene	Chr1:72534309-72622643 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016522	protein coding gene	Chr1:75627664-75719699 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014243	protein coding gene	Chr1:65923403-66011158 (+)
CAST/EiJ	MGP_CASTEiJ_G0015484	protein coding gene	Chr1:71827185-71923349 (+)
CBA/J	MGP_CBAJ_G0015873	protein coding gene	Chr1:78092463-78190569 (+)
DBA/2J	MGP_DBA2J_G0015974	protein coding gene	Chr1:69605299-69693017 (+)
FVB/NJ	MGP_FVBNJ_G0015977	protein coding gene	Chr1:68782820-68870731 (+)
LP/J	MGP_LPJ_G0016046	protein coding gene	Chr1:73866622-73960642 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015997	protein coding gene	Chr1:81590874-81683852 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016569	protein coding gene	Chr1:72253400-72345263 (+)
PWK/PhJ	MGP_PWKPhJ_G0015271	protein coding gene	Chr1:69048421-69137210 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015050	protein coding gene	Chr1:71626036-71717630 (+)
WSB/EiJ	MGP_WSBEiJ_G0015546	protein coding gene	Chr1:72070065-72163653 (+)

Human Ortholog

XRCC5, X-ray repair cross complementing 5

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

XRCC5, X-ray repair cross complementing 5
Synonyms

KARP1, KARP-1, KU80, Ku86, KUB2, NFIV
Links

HGNC:12833

NCBI Gene ID: 7520

neXtProt AC: NX_P13010

UniProt: P13010
Chr Location

2q35; chr2:216109297-216206293 (+) GRCh38.p7

Alliance of Genome Resources

Xrcc5 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: XRCC5
Protein SuperFamily

Ku80
Gene Tree

Xrcc5

Diseases

3 with human XRCC5 associations

				Human Disease	Mouse Models
				chronic obstructive pulmonary disease IDs chronic obstructive pulmonary disease DOID:3083 DOID:11500 DOID:6144 EFO:0000341 ICD10CM:J44.9 MESH:D029424 NCI:C3199 OMIM:606963 UMLS_CUI:C0024117
				multiple myeloma IDs multiple myeloma DOID:9538 EFO:0001378 ICD10CM:C90.0 ICD9CM:203.0 MESH:D009101 NCI:C3242 OMIM:254500 ORDO:29073 UMLS_CUI:C0026764
				rectum cancer IDs rectum cancer DOID:1993 DOID:1989 ICD10CM:C20 ICD9CM:154.1 MESH:D012004 NCI:C7418 NCI:C9382 UMLS_CUI:C0007113 UMLS_CUI:C0949022

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

39 phenotypes from 3 alleles in 5 genetic backgrounds
20 phenotypes from multigenic genotypes
1 images
71 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

38
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

31
Radiation induced

1
Targeted

2
Genomic Mutations

2 involving Xrcc5
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

55 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mutants are defective in DNA double-strand break repair and show impaired growth and severe combined immunodeficiency due to defective assembly of TCRs and immunoglobulins. Mutants die early with osteopenia, atrophic skin and hepatic abnormalities.

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All GO Annotations

76
GO References

15

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	non-membrane-bounded 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

711
Tissues

1
cDNA Data

94
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase xrcc5

ZFIN xrcc5

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Xrcc5 interacts with 52 markers (Mir9-1, Mir9-2, Mir9-3, ...) View All

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All Sequences

57
RefSeq

10
UniProt

2
CCDS

CCDS35608.1

Ensembl

ENSMUSG00000026187 (Evidence)
NCBI Gene

22596

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026187	Ensembl Gene Model \| MGI Sequence Detail	87526	C57BL/6J	± kb
transcript	ENSMUST00000027379	Ensembl \| MGI Sequence Detail	2549	Not Applicable
polypeptide	ENSMUSP00000027379	Ensembl \| MGI Sequence Detail	732	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000017508 X-ray repair cross-complementing protein 5

(term hierarchy)
EC

3.6.4.-
InterPro Domains

IPR006164 Ku70/Ku80 beta-barrel domain

IPR005160 Ku70/Ku80 C-terminal arm

IPR005161 Ku70/Ku80, N-terminal alpha/beta

IPR024193 Ku80

IPR014893 Ku, C-terminal

IPR036494 Ku, C-terminal domain superfamily

IPR016194 SPOC-like, C-terminal domain superfamily

IPR036465 von Willebrand factor A-like domain superfamily

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All nucleic 95

cDNA 94

Primer pair 1

Microarray probesets 4

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MGD-MRK-25948, MGI:2138192

Summaries

All 132

Developmental Gene Expression 4

Diseases 1

Gene Ontology 15

Phenotypes 71
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:317321 Tichy ED, et al., Persistent NF-kappaB activation in muscle stem cells induces proliferation-independent telomere shortening. Cell Rep. 2021 May 11;35(6):109098

TSS for Xrcc5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr7299	Chr1:72346572-72346609 (+)	5 bp
Tssr7300	Chr1:72346617-72346634 (+)	40 bp
Tssr7301	Chr1:72346650-72346661 (+)	70 bp
Tssr7302	Chr1:72346673-72346698 (+)	100 bp
Tssr7303	Chr1:72385415-72385429 (+)	38,836 bp
Tssr7304	Chr1:72422509-72422526 (+)	75,932 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)
Citing These Resources Funding Information Warranty Disclaimer, Copyright, and Privacy Statement Send questions and comments to User Support.	last database update 01/24/2023 MGI 6.22