Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

XRCC4

protein_coding 5 83,077,498 - 83,370,453 PDO SQLite primary read-only query mode

Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000152422

Gene type
protein_coding

Chromosome
5

Coordinates
83,077,498 - 83,370,453

Strand
+

Status
not available

NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

7518 CCDS4058 CCDS4059 DNA repair protein XRCC4 ENST00000396027.9 NM_003401.5 NM_022550 Q13426 X-ray repair complementing defective repair in Chinese hamster cells 4 X-ray repair, complementing defective, repair in Chinese hamster hXRCC4

Summary

GENCODE gene_type=protein_coding; HGNC symbol=XRCC4; HGNC name=X-ray repair cross complementing 4; alias_count=13; RefSeq=NM_022550; UniProt=Q13426; MANE Select=ENST00000396027.9,NM_003401.5

Source: GENCODE + HGNC complete set

7518 • protein-coding

The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019]

NCBI Gene

UniProt

Q13426 • reviewed

DNA non-homologous end joining (NHEJ) core factor, required for double-strand break repair and V(D)J recombination (PubMed:10757784, PubMed:10854421, PubMed:12517771, PubMed:16412978, PubMed:17124166, PubMed:17290226, PubMed:22228831, PubMed:25597996, PubMed:25742519, PubMed:25934149, PubMed:26100018, PubMed:26774286, PubMed:8548796). Acts as a scaffold protein that regulates recruitment of other proteins to DNA double-strand breaks (DSBs) (PubMed:15385968, PubMed:20852255, PubMed:26774286, PubMed:27437582). Associates with NHEJ1/XLF to form alternating helical filaments that bridge DNA and act like a bandage, holding together the broken DNA until it is repaired (PubMed:21768349, PubMed:21775435, PubMed:22287571, PubMed:26100018, PubMed:27437582, PubMed:28500754). The XRCC4-NHEJ1/XLF subcomplex binds to the DNA fragments of a DSB in a highly diffusive manner and robustly bridges two independent DNA molecules, holding the broken DNA fragments in close proximity to one other (PubMed:27437582). The mobility of the bridges ensures that the ends remain accessible for further processing by other repair factors (PubMed:27437582). Plays a key role in the NHEJ ligation step of the broken DNA during DSB repair via direct interaction with DNA ligase IV (LIG4): the LIG4-XRCC4 subcomplex reseals the DNA breaks after the gap filling is completed (PubMed:10757784, PubMed:10854421, PubMed:12517771, PubMed:17290226, PubMed:19837014, PubMed:9242410). XRCC4 stabilizes LIG4, regulates its subcellular localization and enhances LIG4's joining activity (PubMed:10757784, PubMed:10854421, PubMed:12517771, PubMed:17290226, PubMed:21982441, PubMed:22228831, PubMed:9242410). Binding of the LIG4-XRCC4 subcomplex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends (PubMed:10757784, PubMed:10854421). Promotes displacement of PNKP from processed strand break termini (PubMed:20852255, PubMed:28453785) Acts as an activator of the phospholipid scramblase activity of XKR4 (PubMed:33725486). This form, which is generated upon caspase-3 (CASP3) cleavage, translocates into the cytoplasm and interacts with XKR4, thereby promoting phosphatidylserine scramblase activity of XKR4 and leading to phosphatidylserine exposure on apoptotic cell surface (PubMed:33725486)

DNA repair protein XRCC4 · Nucleus; Chromosome; Cytoplasm

Q13426 • reviewed

DNA repair protein XRCC4 · Nucleus; Chromosome; Cytoplasm

Q13426 • reviewed

DNA repair protein XRCC4 · Nucleus; Chromosome; Cytoplasm

Q13426 • reviewed

DNA repair protein XRCC4 · Nucleus; Chromosome; Cytoplasm

GO annotations

Biological process

GO:1990683 DNA double-strand break attachment to nuclear envelope (IDA)
GO:0006310 DNA recombination (IEA)
GO:0006284 base-excision repair (IDA)
GO:0006302 double-strand break repair (IEA)
GO:0006302 double-strand break repair (IDA)
GO:0006302 double-strand break repair (IDA)
GO:0006303 double-strand break repair via nonhomologous end joining (IEA)
GO:0006303 double-strand break repair via nonhomologous end joining (IDA)
GO:0006303 double-strand break repair via nonhomologous end joining (IDA)
GO:0006303 double-strand break repair via nonhomologous end joining (NAS)

+ 19 more

Cellular component

GO:0032807 DNA ligase IV complex (IPI)
GO:0032807 DNA ligase IV complex (IDA)
GO:0032807 DNA ligase IV complex (IBA)
GO:0005958 DNA-dependent protein kinase-DNA ligase 4 complex (IEA)
GO:0005958 DNA-dependent protein kinase-DNA ligase 4 complex (IDA)
GO:0005958 DNA-dependent protein kinase-DNA ligase 4 complex (IDA)
GO:0005958 DNA-dependent protein kinase-DNA ligase 4 complex (IBA)
GO:0005694 chromosome (IEA)
GO:0005694 chromosome (IEA)
GO:0005694 chromosome (EXP)

+ 32 more

Molecular function

GO:0003677 DNA binding (IDA)
GO:0003677 DNA binding (EXP)
GO:0070975 FHA domain binding (IPI)
GO:0008047 enzyme activator activity (IDA)
GO:0019899 enzyme binding (IPI)
GO:0042802 identical protein binding (IPI)
GO:0042802 identical protein binding (IPI)
GO:0042802 identical protein binding (IPI)
GO:0042802 identical protein binding (IPI)
GO:0042802 identical protein binding (IPI)

+ 76 more

Representative

Representative transcript
ENST00000282268

Representative protein
ENSP00000282268.3

Representative type
CCDS

Candidate count
11

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID	Name	Type	Status	Protein	Location
ENST00000282268	XRCC4-201	protein_coding	not available	ENSP00000282268.3	5:83,077,498 - 83,353,758 +
ENST00000511817	XRCC4-205	protein_coding	not available	ENSP00000421491.1	5:83,077,498 - 83,353,787 +
ENST00000933727	XRCC4-210	protein_coding	not available	ENSP00000603786.1	5:83,077,498 - 83,353,760 +
ENST00001110735	XRCC4-215	protein_coding	not available	ENSP00000780540.1	5:83,077,498 - 83,311,070 +
ENST00000338635	XRCC4-202	protein_coding	not available	ENSP00000342011.6	5:83,077,527 - 83,353,711 +
ENST00001115472	XRCC4-217	protein_coding	not available	ENSP00000785277.1	5:83,077,527 - 83,261,012 +
ENST00001115473	XRCC4-218	protein_coding	not available	ENSP00000785278.1	5:83,077,527 - 83,200,949 +
ENST00001116923	XRCC4-220	protein_coding	not available	ENSP00000786728.1	5:83,077,527 - 83,266,900 +
ENST00001131281	XRCC4-221	protein_coding	not available	ENSP00000801086.1	5:83,077,527 - 83,370,453 +
ENST00001131283	XRCC4-223	protein_coding	not available	ENSP00000801088.1	5:83,077,527 - 83,261,035 +
ENST00000396027	XRCC4-203	protein_coding	not available	ENSP00000379344.4	5:83,077,547 - 83,353,760 +
ENST00000542685	XRCC4-206	protein_coding_CDS_not_defined	not available	not available	5:83,077,557 - 83,311,069 +
ENST00001059940	XRCC4-214	nonsense_mediated_decay	not available	ENSP00000729756.1	5:83,077,583 - 83,353,760 +
ENST00000933725	XRCC4-208	protein_coding	not available	ENSP00000603784.1	5:83,077,608 - 83,353,760 +
ENST00000933726	XRCC4-209	protein_coding	not available	ENSP00000603785.1	5:83,077,608 - 83,353,760 +
ENST00000957027	XRCC4-211	protein_coding	not available	ENSP00000627086.1	5:83,077,608 - 83,353,756 +
ENST00000888905	XRCC4-207	protein_coding	not available	ENSP00000558964.1	5:83,095,958 - 83,353,762 +
ENST00000957028	XRCC4-212	protein_coding	not available	ENSP00000627087.1	5:83,095,958 - 83,353,760 +
ENST00001115471	XRCC4-216	protein_coding	not available	ENSP00000785276.1	5:83,095,958 - 83,311,069 +
ENST00001115474	XRCC4-219	protein_coding	not available	ENSP00000785279.1	5:83,095,958 - 83,198,964 +

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

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ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.