COL13A1 - collagen type XIII alpha 1 chain Gene
Also Known as CMS19; COLXIIIA1
Species: Homo sapiens
About COL13A1
This gene has 51 transcripts (splice variants), 137 orthologues, 37 paralogues and is associated with 4 phenotypes. Broad expression in prostate (RPKM 4.3), lung (RPKM 4.0) and 19 other tissues.
Summary
This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, Collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like Other collagens, Collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]
COL13A1 Products (16)
| mRNA | Protein | Name |
|---|---|---|
| NM_001130103.2 | NP_001123575.1 | collagen alpha-1(XIII) chain isoform 1 |
| NM_001320951.2 | NP_001307880.1 | collagen alpha-1(XIII) chain isoform 22 |
| NM_001368882.1 | NP_001355811.1 | collagen alpha-1(XIII) chain isoform 23 |
| NM_001368883.1 | NP_001355812.1 | collagen alpha-1(XIII) chain isoform 24 |
| NM_001368884.1 | NP_001355813.1 | collagen alpha-1(XIII) chain isoform 25 |
| NM_001368885.1 | NP_001355814.1 | collagen alpha-1(XIII) chain isoform 26 |
| NM_001368886.1 | NP_001355815.1 | collagen alpha-1(XIII) chain isoform 27 |
| NM_001368895.1 | NP_001355824.1 | collagen alpha-1(XIII) chain isoform 28 |
| NM_001368896.1 | NP_001355825.1 | collagen alpha-1(XIII) chain isoform 29 |
| NM_001368897.1 | NP_001355826.1 | collagen alpha-1(XIII) chain isoform 30 |
| NM_001368898.1 | NP_001355827.1 | collagen alpha-1(XIII) chain isoform 31 |
| NM_080798.4 | NP_542988.3 | collagen alpha-1(XIII) chain isoform 21 |
| NM_080800.4 | NP_542990.3 | collagen alpha-1(XIII) chain isoform 11 |
| NM_080801.4 | NP_542991.3 | collagen alpha-1(XIII) chain isoform 5 |
| NM_080802.4 | NP_542992.3 | collagen alpha-1(XIII) chain isoform 15 |
| NM_080805.4 | NP_542995.3 | collagen alpha-1(XIII) chain isoform 19 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables heparin binding |
IDA
IDA: Inferred from direct assay
|
11956183 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11956183 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cell-cell adhesion |
IEP
IEP: Inferred from expression pattern
|
10865988 | GOA |
| involved in cell-matrix adhesion |
IPI
IPI: Inferred from physical interaction
|
11956183 | GOA |
COL13A1 Protein Structure
Collagen: Collagen triple helix repeat (20 copies) (157 - 214)
Collagen: Collagen triple helix repeat (20 copies) (269 - 321)
Collagen: Collagen triple helix repeat (20 copies) (285 - 336)
Collagen: Collagen triple helix repeat (20 copies) (318 - 378)
Collagen: Collagen triple helix repeat (20 copies) (382 - 440)
Collagen: Collagen triple helix repeat (20 copies) (464 - 522)
Collagen: Collagen triple helix repeat (20 copies) (506 - 564)
Collagen: Collagen triple helix repeat (20 copies) (568 - 623)
Collagen: Collagen triple helix repeat (20 copies) (619 - 673)
Collagen: Collagen triple helix repeat (20 copies) (643 - 699)
- 0
- 200
- 400
- 600
- 717 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
collagen alpha-1(XIII) chain |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myasthenic Syndrome, Congenital, 19 |
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| Presynaptic Congenital Myasthenic Syndromes |
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| Postsynaptic Congenital Myasthenic Syndromes |
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| Congenital Myasthenic Syndrome |
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| Dystonia 27 |
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| Deafness, X-Linked 6 |
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| Ptosis |
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| Neuromuscular Junction Disease |
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