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General Information
- 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 |
|---|---|---|---|---|---|---|
| 22200551    | 2012 | Cell line : - Source : Ambroise Par Hospital. Sample Type : - No. of Sample : - Stage : - | Microarray, microfluidic quantitative RT-PCR. | Up-regulation | - | Extracellular matrix components (COL1A1, COL4A1, SLCO1A2) were over-represented in patients. |
Gene Details

| Gene Type | protein coding |
|---|---|
| Gene Family | Collagens |
| Description | This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]   |
| Chromosome | 13 |
| Location | 13q34 |
| Start | 110801310   |
| End | 110959496   |
| Strand | -   |
| Gene Sequence |    Download   Select all |
| Length | 158187   |
| OMIM ID | 120130    |
| HGNC ID | HGNC:2202    |
| Unigene ID | Hs.17441    |
| Ensembl ID | ENSG00000187498    |
| PharmGKB ID | PA26717    |
mRNA Information
| mRNA ID | NM_001845.5 |
|---|---|
| Exon | join(1..214,64424..64483,93143..93232,93332..93376, 94540..94584,94679..94741,95236..95289,95485..95511, 96946..97029,97116..97178,97731..97766,98268..98309, 99669..99755,100267..100293,100443..100493,101620..101664, 101752..101805,103551..103592,105636..105720, 106269..106304,108527..108691,112040..112135, 114245..114328,114874..114944,119829..120020, 120605..120773,123882..123974,124061..124165, 125769..125866,127737..127887,128122..128235, 128927..129094,129227..129316,130121..130273, 130434..130532,130645..130734,131801..131940, 132409..132535,132632..132712,133160..133258, 134388..134438,136426..136611,137396..137529, 139928..140000,140855..140926,142168..142296, 143597..143695,144716..144928   | mRNA Sequence |    Download   Select all |
| Length | 6545   |
CDS Information
| Location | 131..5140 |
|---|---|
| CDS Sequence |    Download   Select all |
| CCDS ID | CCDS9511.1 |    
Protein Information
| Protein ID | NP_001836.3 |
|---|---|
| Protein Name | collagen, type IV, alpha 1 |
| Molecular Wt. (Da) | 0 |
| Protein Sequence |    Download   Select all |
| Length | 1669   |
| Uniprot ID | P30086 |    
| Ensembl Protein ID | ENSP00000261313   |    
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| K | Glycosylation | 1265 |
| C | Disulfide Bridge | 1460;1551 |
| C | Disulfide Bridge | 1493;1548 |
| C | Disulfide Bridge | 1505;1511 |
| C | Disulfide Bridge | 1570;1665 |
| C | Disulfide Bridge | 1604;1662 |
| C | Disulfide Bridge | 1616;1622 |
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 |
|---|---|---|---|---|---|
| 43 |    ACHE |    10 |    NP_056646.1 |    in vitro |    12524166    |
| 325 |    APCS |    101 |    NP_001630.1 |    in vitro |    8662978    |
| 351 |    APP |    100 |    NP_000475.1 |    in vitro |    9136074    |
| 1284 |    COL4A2 |    355 |    NP_001837.2 |    in vitro |    12011424    |
| 1294 |    COL7A1 |    358 |    NP_000085.1 |    in vitro |    9169408    |
| 6288 |    SAA1 |    97 |    NP_000322.2 |    in vitro |    8995276    |
| 6289 |    SAA2 |    98 |    NP_110381.2 |    in vitro |    8995276    |
| 6291 |    SAA4 |    99 |    NP_006503.1 |    in vitro |    8995276    |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| AGE-RAGE signaling pathway in diabetic complications |    hsa04933 |    
| Amoebiasis |    hsa05146 |    
| ECM-receptor interaction |    hsa04512 |    
| Focal adhesion |    hsa04510 |    
| Pathways in cancer |    hsa05200 |    
| PI3K-Akt signaling pathway |    hsa04151 |    
| Protein digestion and absorption |    hsa04974 |    
| Small cell lung cancer |    hsa05222 |    
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| pfam01413 | 1445-1554  | C4 |
| cl02467 | 1445-1554  | C4 superfamily |
| smart00111 | 1555-1668  | C4 |
| cl02467 | 1555-1668  | C4 superfamily |
| pfam01413 | 1555-1668  | C4 |
| smart00111 | 1445-1554  | C4 |
| pfam01391 | 975-1033  | Collagen |
| cl22949 | 975-1033  | Collagen superfamily |
| pfam01391 | 1103-1162  | Collagen |
| cl22949 | 1103-1162  | Collagen superfamily |
| pfam01391 | 984-1041  | Collagen |
| pfam01391 | 1088-1147  | Collagen |
| pfam01391 | 1109-1168  | Collagen |
| pfam01391 | 996-1055  | Collagen |
| pfam01391 | 839-896  | Collagen |
| cl22949 | 839-896  | Collagen superfamily |
| pfam01391 | 951-1009  | Collagen |
| pfam01391 | 855-912  | Collagen |
| pfam01391 | 840-899  | Collagen |
| pfam01391 | 843-902  | Collagen |
| pfam01391 | 1002-1056  | Collagen |
| pfam01391 | 876-935  | Collagen |
| cl22949 | 876-935  | Collagen superfamily |
| pfam01391 | 1100-1157  | Collagen |
| pfam01391 | 1112-1171  | Collagen |
| pfam01391 | 1064-1123  | Collagen |
| cl22949 | 1064-1123  | Collagen superfamily |
| pfam01391 | 960-1019  | Collagen |
| pfam01391 | 957-1014  | Collagen |
| pfam01391 | 861-920  | Collagen |
| pfam01391 | 1130-1191  | Collagen |
| pfam01391 | 1076-1135  | Collagen |
| pfam01391 | 954-1011  | Collagen |
| pfam01391 | 849-906  | Collagen |
| pfam01391 | 948-1007  | Collagen |
| pfam01391 | 1082-1141  | Collagen |
| pfam01391 | 1073-1130  | Collagen |
| pfam01391 | 885-936  | Collagen |
| pfam01391 | 947-1004  | Collagen |
| pfam01391 | 275-325  | Collagen |
| cl22949 | 275-325  | Collagen superfamily |
| pfam01391 | 278-323  | Collagen |
| pfam01391 | 882-937  | Collagen |
| pfam01391 | 1058-1114  | Collagen |
| pfam01391 | 510-585  | Collagen |
| cl22949 | 510-585  | Collagen superfamily |
| pfam01391 | 645-683  | Collagen |
| cl22949 | 645-683  | Collagen superfamily |
| PRK07764 | 958-1153  | PRK07764 |
| pfam09606 | 861-1177  | Med15 |
| pfam05642 | 912-1115  | Sporozoite_P67 |
| PHA03247 | 851-1155  | PHA03247 |
| PRK07764 | 843-1048  | PRK07764 |
| PHA03169 | 1044-1189  | PHA03169 |
| pfam05642 | 979-1172  | Sporozoite_P67 |
| PRK07764 | 867-1055  | PRK07764 |
| PHA03169 | 873-1017  | PHA03169 |
| pfam03157 | 831-1378  | Glutenin_hmw |
| PRK14666 | 1054-1170  | uvrC |
| PRK07764 | 976-1168  | PRK07764 |
Ontology Information
| HPRD ID | 1418 |    
|---|---|
| Molecular Class | Extracellular matrix protein |
| Molecular Function | Protease inhibitor activity (GO:0030414) |
| 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 |    
