Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| BARD1 | 580 | BRCA1 associated RING domain 1  | 2 | -  |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 21693656    | 2011 | Cell line : - Source : Biochain (Hayward, CA). Sample Type : CRC tumor and normal tissue No. of Sample : 15 CRC, 15 normal tissue Stage : - | real time RT-PCR,Sequence analysis,Immunohistochemistry | Polymorhpism | - | BARD1 regulation is an important pathway in colon cancer and that the BARD1 full-length protein may be a useful marker to improve risk stratification in colon cancer patients. |
| 22814582    | 2012 | Cell line : - Source : German patient Sample Type : - No. of Sample : 168 CRC Stage : TNM Stage I-IV | Immunohistochemistry, real time RT-PCR | Polymorhpism | - | BARD1 isoforms, but not FL BARD1, are expressed in colon cancer and affect its progression and clinical . |
| 25058500    | 2015 | Cell line : - Source : Hospital Cl?nico San Carlos in Madrid, Hospital Clinic in Barcelona, and Hospital Donostia in San Sebastin. Sample Type : CRC tumor No. of Sample : 43 CRC Stage : - | Exome sequencing | Polymorhpism | - | - |
Gene Details

| Gene Type | protein coding |
|---|---|
| Gene Family | Ankyrin repeat domain containing |
| Description | This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]   | Chromosome | 2 |
| Location | 2q34-q35 |
| Start | 215590370   |
| End | 215674428   |
| Strand | -   |
| Gene Sequence |    Download   Select all |
| Length | 84059   |
| OMIM ID | 601593    |
| HGNC ID | HGNC:952    |
| Unigene ID | Hs.591642    |
| Ensembl ID | ENSG00000138376    |
| PharmGKB ID | PA25256    |
mRNA Information
| mRNA ID | NM_001282548.1 |
|---|---|
| Exon | join(1..300,57157..57265,63858..63990,64553..64645, 79204..79301,80704..84066)   | mRNA Sequence |    Download   Select all |
| Length | 4113   |
CDS Information
| Location | 143..1066 |
|---|---|
| CDS Sequence |    Download   Select all |
| CCDS ID | CCDS2397.1 |    
Protein Information
| Protein ID | NP_001269477.1 |
|---|---|
| Protein Name | BRCA1 associated RING domain 1 |
| Molecular Wt. (Da) | 34927 |
| Protein Sequence |    Download   Select all |
| Length | 307   |
| Uniprot ID | P08253 |    
| Ensembl Protein ID | ENSP00000219070   |    
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 148 |
| S | Phosphorylation | 184 |
| S | Phosphorylation | 186 |
| S | Phosphorylation | 391 |
| T | Phosphorylation | 394 |
| T | Phosphorylation | 299 |
| S | Phosphorylation | 251 |
| S | Phosphorylation | 364 |
| S | Phosphorylation | 330 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING)      View   
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 602 |    BCL3 |    179 |    NP_005169.2 |    in vitro;in vivo;yeast 2-hybrid |    10362352    |
| 672 |    BRCA1 |    218 |    NP_009231.2 |    in vitro;in vivo;yeast 2-hybrid |    89   440   231   002   618   400   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000   000    |
| 1477 |    CSTF1 |    2653 |    NP_001315.1 |    in vitro;in vivo;yeast 2-hybrid |    1   047   752   311   257   220    |
| 2130 |    EWSR1 |    592 |    NP_053733.2 |    in vitro;in vivo |    12183411    |
| 2547 |    XRCC6 |    1071 |    NP_001460.1 |    in vivo |    15782130    |
| 4436 |    MSH2 |    389 |    NP_000242.1 |    in vitro |    11498787    |
| 5451 |    POU2F1 |    1250 |    NP_002688.2 |    in vivo |    11777930    |
| 5764 |    PTN |    1199 |    NP_002816.1 |    yeast 2-hybrid |    15383276    |
| 7157 |    TP53 |    1859 |    NP_000537.3 |    in vivo |    15782130    |
| 9001 |    HAP1 |    2972 |    NP_003940.3 |    in vitro;yeast 2-hybrid |    15383276    |
| 9656 |    MDC1 |    16252 |    NP_055456.2 |    in vivo |    12611903    |
| 29117 |    BRD7 |    12531 |    AAF19526.1 |    yeast 2-hybrid |    15383276    |
Pathway Information
No matching records could be found.
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00204 | 424-544  | ANK |
| cl02529 | 424-544  | ANK superfamily |
| cd00027 | 568-641  | BRCT |
| cl00038 | 568-641  | BRCT superfamily |
| cd00162 | 50-89  | RING |
| cl17238 | 50-89  | RING superfamily |
| cd00027 | 674-767  | BRCT |
| cl00038 | 674-767  | BRCT superfamily |
| pfam14835 | 41-105  | zf-RING_6 |
| cd00204 | 455-543  | ANK |
| cd00204 | 423-481  | ANK |
| smart00292 | 571-640  | BRCT |
| pfam00023 | 495-524  | Ank |
| pfam00023 | 461-488  | Ank |
| pfam14634 | 49-86  | zf-RING_5 |
| pfam00023 | 428-459  | Ank |
| smart00248 | 461-488  | ANK |
| smart00248 | 493-522  | ANK |
| pfam00533 | 575-640  | BRCT |
| smart00292 | 669-767  | BRCT |
| pfam13606 | 461-489  | Ank_3 |
| pfam13923 | 50-86  | zf-C3HC4_2 |
| smart00184 | 50-86  | RING |
| pfam00097 | 50-86  | zf-C3HC4 |
| pfam13606 | 428-456  | Ank_3 |
| pfam13606 | 494-522  | Ank_3 |
| smart00248 | 427-456  | ANK |
| pfam12796 | 432-524  | Ank_2 |
| COG0666 | 407-557  | ANKYR |
| pfam12796 | 416-490  | Ank_2 |
| pfam12796 | 465-527  | Ank_2 |
| PHA03100 | 408-524  | PHA03100 |
| PHA02874 | 424-517  | PHA02874 |
| pfam13637 | 461-514  | Ank_4 |
| pfam13637 | 430-481  | Ank_4 |
| PTZ00322 | 431-516  | PTZ00322 |
| PHA02878 | 422-545  | PHA02878 |
| COG0666 | 424-509  | ANKYR |
| PHA03095 | 404-532  | PHA03095 |
| PHA02878 | 436-534  | PHA02878 |
| PHA03100 | 430-535  | PHA03100 |
| PHA03100 | 423-533  | PHA03100 |
| PHA02878 | 432-531  | PHA02878 |
| PHA02875 | 427-530  | PHA02875 |
| PHA02874 | 412-543  | PHA02874 |
| PHA02876 | 410-524  | PHA02876 |
| pfam13857 | 479-533  | Ank_5 |
| PHA02875 | 430-523  | PHA02875 |
| PHA02874 | 424-532  | PHA02874 |
| pfam13857 | 416-468  | Ank_5 |
| PHA02875 | 440-518  | PHA02875 |
| PHA02875 | 429-543  | PHA02875 |
| PTZ00322 | 424-483  | PTZ00322 |
| PHA03095 | 441-533  | PHA03095 |
| PLN03192 | 431-521  | PLN03192 |
| PHA03100 | 443-542  | PHA03100 |
| PHA02876 | 429-544  | PHA02876 |
| PHA02874 | 432-533  | PHA02874 |
| PHA02874 | 439-543  | PHA02874 |
| pfam13857 | 447-499  | Ank_5 |
| PLN03192 | 427-582  | PLN03192 |
| pfam12796 | 416-458  | Ank_2 |
| PHA02876 | 424-531  | PHA02876 |
| TIGR00599 | 39-117  | rad18 |
| PHA03095 | 428-546  | PHA03095 |
| pfam13637 | 494-533  | Ank_4 |
| PHA02875 | 435-523  | PHA02875 |
| PHA02946 | 437-540  | PHA02946 |
| COG5432 | 40-213  | RAD18 |
| PHA02878 | 432-597  | PHA02878 |
| PHA02878 | 424-515  | PHA02878 |
| PHA03095 | 424-481  | PHA03095 |
| PHA02716 | 440-531  | PHA02716 |
| pfam05110 | 185-367  | AF-4 |
| PHA03095 | 474-533  | PHA03095 |
| PLN03192 | 426-495  | PLN03192 |
| TIGR00870 | 414-522  | trp |
| PHA02917 | 425-484  | PHA02917 |
| PHA03095 | 424-515  | PHA03095 |
Ontology Information
| HPRD ID | 1703 |    
|---|---|
| Molecular Class | Transcription regulatory protein |
| Molecular Function | Metallopeptidase activity (GO:0008237) |
| Biological Process | Protein metabolism (GO:0019538)   |
Drug Information
No matching records could be found.
External Links
| ArrayExpress | GO |    
|---|---|
| ICGC | GO |    
| Cancer3D | GO |    
| COSMIC | GO |    
| NCG | GO |    
| TSGene | GO |    
| Tumor Gene Family of Databases | GO |    
| CCDB | GO |    
| G2SBC | GO |    
| Osteosarcoma Database | GO |    
| RCDB | GO |    
