XPA - XPA, DNA damage recognition and repair factor Gene
Also Known as XP1; XPAC
Species: Homo sapiens
About XPA
This gene has 4 transcripts (splice variants), 213 orthologues and is associated with 43 phenotypes. Ubiquitous expression in thyroid (RPKM 6.2), fat (RPKM 4.7) and 25 other tissues.
Summary
This gene encodes a Zinc Finger Protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens and chemotherapeutic drugs. The encoded protein interacts with DNA and several NER proteins, acting as a scaffold to assemble the NER incision complex at sites of DNA damage. Mutations in this gene cause Xeroderma pigmentosum complementation group A (XP-A), an autosomal recessive skin disorder featuring hypersensitivity to sunlight and increased risk for skin Cancer. [provided by RefSeq, Aug 2017]
XPA Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000380.4 | NP_000371.1 | DNA repair protein complementing XP-A cells isoform 1 |
| NM_001354975.2 | NP_001341904.1 | DNA repair protein complementing XP-A cells isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables damaged DNA binding |
IDA
IDA: Inferred from direct assay
|
7700386 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
7700386 | GOA |
| enables protein domain specific binding |
IPI
IPI: Inferred from physical interaction
|
17720715 | GOA |
| enables protein homodimerization activity |
IPI
IPI: Inferred from physical interaction
|
8197175 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in DNA repair |
IDA
IDA: Inferred from direct assay
|
1601884 | GOA |
| involved in DNA repair |
IMP
IMP: Inferred from mutant phenotype
|
1601884 | GOA |
| involved in UV protection |
IDA
IDA: Inferred from direct assay
|
1601884 | GOA |
| involved in UV protection |
IMP
IMP: Inferred from mutant phenotype
|
1601884 | GOA |
| involved in nucleotide-excision repair |
IMP
IMP: Inferred from mutant phenotype
|
21148310 | GOA |
| involved in protein localization to nucleus |
IMP
IMP: Inferred from mutant phenotype
|
1601884 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of DNA replication factor A complex |
IDA
IDA: Inferred from direct assay
|
7700386 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
1601884 | GOA |
XPA Protein Structure
XPA_N: XPA protein N-terminal (100 - 133)
XPA_C: XPA protein C-terminus (134 - 186)
- 0
- 100
- 200
- 273 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
DNA repair protein complementing XP-A cells |
|
XPA Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
XPA | P23025 | HERC2 | Homo sapiens | O95714 | 20304803 | |
|
Intra
|
XPA | P23025 | HERC2 | Homo sapiens | O95714 | 20304803 | |
|
Intra
|
XPA | P23025 | HERC2 | Homo sapiens | O95714 | 33961781 | |
|
Intra
|
XPA | P23025 | ERCC1 | Homo sapiens | P07992-3 | 32296183 | |
|
Intra
|
XPA | P23025 | ERCC1 | Homo sapiens | P07992-3 | 32296183 | |
|
Intra
|
XPA | P23025 | MEOX2 | Homo sapiens | Q6FHY5 | 32296183 | |
|
Intra
|
XPA | P23025 | MEOX2 | Homo sapiens | Q6FHY5 | 32296183 | |
|
Intra
|
XPA | P23025 | MEOX2 | Homo sapiens | Q6FHY5 | 32296183 | |
|
Intra
|
XPA | P23025 | SIRT1 | Homo sapiens | Q96EB6 | 20670893 | |
|
Intra
|
XPA | P23025 | SIRT1 | Homo sapiens | Q96EB6 | 20670893 | |
|
Intra
|
XPA | P23025 | SKIL | Homo sapiens | P12757 | 32296183 | |
|
Intra
|
XPA | P23025 | SKIL | Homo sapiens | P12757 | 32296183 | |
|
Intra
|
XPA | P23025 | TBC1D7 | Homo sapiens | Q9P0N9 | 32296183 | |
|
Intra
|
XPA | P23025 | SNPH | Homo sapiens | O15079 | 32296183 | |
|
Intra
|
XPA | P23025 | SNPH | Homo sapiens | O15079 | 32296183 | |
|
Intra
|
XPA | P23025 | ARID3A | Homo sapiens | Q99856 | 32296183 | |
|
Intra
|
XPA | P23025 | ARID3A | Homo sapiens | Q99856 | 32296183 | |
|
Intra
|
XPA | P23025 | ARID3A | Homo sapiens | Q99856 | 32296183 | |
|
Intra
|
XPA | P23025 | RPA2 | Homo sapiens | P15927 | 20670893 | |
|
Intra
|
XPA | P23025 | RPA2 | Homo sapiens | P15927 | 33961781 | |
|
Intra
|
XPA | P23025 | RPA2 | Homo sapiens | P15927 | 32296183 | |
|
Intra
|
XPA | P23025 | RPA2 | Homo sapiens | P15927 | 20304803 | |
|
Intra
|
XPA | P23025 | RPA2 | Homo sapiens | P15927 | 32296183 | |
|
Intra
|
XPA | P23025 | RPA2 | Homo sapiens | P15927 | 12527904 | |
|
Intra
|
XPA | P23025 | ZNF655 | Homo sapiens | Q8N720 | 32296183 | |
|
Intra
|
XPA | P23025 | ZNF655 | Homo sapiens | Q8N720 | 32296183 | |
|
Intra
|
XPA | P23025 | ZNF655 | Homo sapiens | Q8N720 | 32296183 | |
|
Intra
|
XPA | P23025 | TRIM27 | Homo sapiens | P14373 | 32296183 | |
|
Intra
|
XPA | P23025 | TRIM27 | Homo sapiens | P14373 | 32296183 | |
|
Intra
|
XPA | P23025 | DVL3 | Homo sapiens | Q92997 | 32296183 | |
|
Intra
|
XPA | P23025 | DVL3 | Homo sapiens | Q92997 | 32296183 | |
|
Intra
|
XPA | P23025 | DVL3 | Homo sapiens | Q92997 | 32296183 | |
|
Intra
|
XPA | P23025 | ERCC1 | Homo sapiens | P07992 | 17948053 | |
|
Intra
|
XPA | P23025 | ERCC1 | Homo sapiens | P07992 | 16491090 | |
|
Intra
|
XPA | P23025 | ERCC1 | Homo sapiens | P07992 | 28514442 | |
|
Intra
|
XPA | P23025 | ERCC1 | Homo sapiens | P07992 | 33961781 | |
|
Intra
|
XPA | P23025 | ERCC1 | Homo sapiens | P07992 | 17948053 | |
|
Intra
|
XPA | P23025 | ERCC1 | Homo sapiens | P07992 | 17948053 | |
|
Intra
|
XPA | P23025 | PICK1 | Homo sapiens | Q9NRD5 | 32296183 | |
|
Intra
|
XPA | P23025 | PICK1 | Homo sapiens | Q9NRD5 | 32296183 | |
|
Intra
|
XPA | P23025 | NDEL1 | Homo sapiens | Q9GZM8 | 32296183 | |
|
Intra
|
XPA | P23025 | NDEL1 | Homo sapiens | Q9GZM8 | 32296183 | |
|
Intra
|
XPA | P23025 | NDEL1 | Homo sapiens | Q9GZM8 | 32296183 | |
|
Intra
|
XPA | P23025 | NDEL1 | Homo sapiens | Q9GZM8 | 25416956 |
XPA Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P810939 | XPA Antibody | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
| HY-P89858 | XPA Antibody (YA9202) | WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA | human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Xeroderma Pigmentosum, Complementation Group A |
|
|
| Xeroderma Pigmentosum, Variant Type |
|
|
| Skin Carcinoma |
|
|
| Cockayne Syndrome |
|
|
| Trichothiodystrophy |
|
|
| Skin Benign Neoplasm |
|
|
| Xeroderma Pigmentosum, Complementation Group G |
|
|
| Xeroderma Pigmentosum, Complementation Group F |
|
|
| Multiple Self-Healing Squamous Epithelioma |
|
|
| Xeroderma Pigmentosum, Complementation Group C |
|
|
| Basal Cell Carcinoma |
|
|
| Xfe Progeroid Syndrome |
|
|
| Ataxia-Telangiectasia |
|
|
| De Sanctis-Cacchione Syndrome |
|
|
| Xeroderma Pigmentosum, Complementation Group D |
|
|
| Cockayne Syndrome B |
|
|
| Uv-Sensitive Syndrome |
|
|
| Brain Sarcoma |
|
|
| Cerebrooculofacioskeletal Syndrome |
|
|
| Xeroderma Pigmentosum Group E |
|
|
| Xeroderma Pigmentosum, Complementation Group B |
|
|
| Cockayne Syndrome A |
|
|
| Xeroderma Pigmentosum, Complementation Group E |
|
|
| Ocular Cancer |
|
|
| Photoparoxysmal Response 1 |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Lung Cancer |
|
|
| Actinic Keratosis |
|
|
| Ovarian Cancer |
|
|
| Aplastic Anemia |
|
|
| Lynch Syndrome |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | XPA | MGD | MGI:99135 |
| Canis familiaris | XPA | VGNC | VGNC:48455 |
| Macaca mulatta | XPA | VGNC | VGNC:78808 |
| Bos taurus | XPA | VGNC | VGNC:36992 |
| Rattus norvegicus | XPA | RGD | RGD:1308769 |
| Felis catus | XPA | VGNC | VGNC:103008 |
| Others | XPA | NCBI |