2. Gene
  3. COL13A1 - collagen type XIII alpha 1 chain Gene

COL13A1 - collagen type XIII alpha 1 chain Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CMS19; COLXIIIA1

Gene ID: 1305 | Gene type: protein coding

About COL13A1

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:69,801,906-69,959,144 (from NCBI)

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
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference 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 Reference 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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COL13A1 Protein Structure

Collagen

Collagen: Collagen triple helix repeat (20 copies) (157 - 214)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (269 - 321)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (285 - 336)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (318 - 378)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (382 - 440)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (464 - 522)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (506 - 564)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (568 - 623)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (619 - 673)

Collagen

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

collagen, type XIII, alpha 1

Related Diseases

Diseases Alias
Myasthenic Syndrome, Congenital, 19

Congenital Myasthenic Syndrome 19

CMS19

Myasthenic Syndrome, Congenital, Type 19
Presynaptic Congenital Myasthenic Syndromes

Presynaptic Congenital Myasthenic Syndrome

Congenital Myasthenic Syndromes, Presynaptic
Postsynaptic Congenital Myasthenic Syndromes

Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndrome

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia
Dystonia 27

DYT27

Primary Dystonia, Dyt27 Type

Dystonia, Type 27
Deafness, X-Linked 6

DFNX6

X-Linked Deafness 6

Deafness, X-Linked, 6

Deafness, X-Linked, Type 6
Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris
Neuromuscular Junction Disease

Neuromuscular Junction Diseases
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02963 COL13A1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus COL13A1 RGD RGD:1595704
Macaca mulatta COL13A1 VGNC VGNC:84881
Canis familiaris COL13A1 VGNC VGNC:39459
Mus musculus COL13A1 MGD MGI:1277201
Bos taurus COL13A1 VGNC VGNC:27555