UniProt:Q5TAT6 COL13A1

chain
  • chain:1-717
checksum FD12CA80CC93540F
comment
  • FUNCTION Involved in cell-matrix and cell-cell adhesion interactions that are required for normal development. May participate in the linkage between muscle fiber and basement membrane. May play a role in endochondral ossification of bone and branching morphogenesis of lung. Binds heparin. At neuromuscular junctions, may play a role in acetylcholine receptor clustering (PubMed:26626625).SUBUNIT Homotrimer; disulfide-linked. Nucleation of the type XIII collagen triple helix is likely to occur at the N-terminal region with triple helix formation proceeding from the N- to the C-terminus. Interacts with FN1, perlecan/HSPG2 and NID2.SUBCELLULAR LOCATION Additional isoforms seem to exist.TISSUE SPECIFICITY Widely expressed in both fetal and adult ocular tissues (at protein level). In the eye, expression is accentuated in the ciliary muscle, optic nerve and the neural retina. In early placenta, localized to fibroblastoid stromal cells of the placental villi, to endothelial cells of developing capillaries and to cells of the cytotrophoblastic columns. Also detected in large decidual cells of the decidual membrane and to stromal cells of the gestational endometrium, but not in the epithelial cells in the endometrial glands. Isoform 10: Expressed in muscle (PubMed:26626625).DISEASE The disease is caused by variants affecting the gene represented in this entry.
created [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference
databaseName UniProt
dbId 224853
description
  • recommendedName: Collagen alpha-1(XIII) chain alternativeName: COLXIIIA1
displayName UniProt:Q5TAT6 COL13A1
geneName
  • COL13A1
identifier Q5TAT6
isSequenceChanged false
keyword
  • Alternative splicing
  • Cell adhesion
  • Cell membrane
  • Collagen
  • Congenital myasthenic syndrome
  • Developmental protein
  • Differentiation
  • Disulfide bond
  • Heparin-binding
  • Membrane
  • Osteogenesis
  • Postsynaptic cell membrane
  • Proteomics identification
  • Reference proteome
  • Signal-anchor
  • Synapse
  • Transmembrane
  • Transmembrane helix
modified [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType Protein
name
  • COL13A1
otherIdentifier
  • 11730533_a_at
  • 11730534_x_at
  • 11742450_a_at
  • 11750544_a_at
  • 1305
  • 16705661
  • 208535_PM_x_at
  • 208535_x_at
  • 211343_PM_s_at
  • 211343_s_at
  • 211809_PM_x_at
  • 211809_x_at
  • 3250487
  • 3250488
  • 3250489
  • 3250500
  • 3250501
  • 3250512
  • 3250518
  • 3250519
  • 3250520
  • 3250521
  • 3250522
  • 3250523
  • 3250524
  • 3250532
  • 3250534
  • 3250535
  • 3250538
  • 3250539
  • 3250540
  • 3250544
  • 3250545
  • 3250547
  • 3250548
  • 3250551
  • 3250552
  • 3250555
  • 3250559
  • 3250560
  • 3250561
  • 3250562
  • 3250564
  • 3250565
  • 3250567
  • 3250568
  • 3250569
  • 3250570
  • 3250571
  • 3250572
  • 3250573
  • 3250574
  • 3250575
  • 3250576
  • 3250577
  • 3250579
  • 3250580
  • 3250581
  • 3250582
  • 3250586
  • 3250587
  • 3250588
  • 3250589
  • 3250590
  • 3250591
  • 3250592
  • 3250593
  • 3250594
  • 3250595
  • 3250596
  • 38951_at
  • 38952_s_at
  • 50510_at
  • 7928069
  • A_14_P103145
  • A_14_P137897
  • A_23_P1331
  • A_24_P90005
  • GE88279
  • GO:0001503
  • GO:0001763
  • GO:0001958
  • GO:0005198
  • GO:0005515
  • GO:0005576
  • GO:0005581
  • GO:0005600
  • GO:0005604
  • GO:0005788
  • GO:0005886
  • GO:0005911
  • GO:0007155
  • GO:0007160
  • GO:0008201
  • GO:0016020
  • GO:0030020
  • GO:0030154
  • GO:0030312
  • GO:0031012
  • GO:0045202
  • GO:0045211
  • GO:0098609
  • HMNXSV003033959
  • ILMN_2311052
  • ILMN_2370624
  • M33653_at
  • PH_hs_0012290
  • TC10000424.hg
  • g178319_3p_a_at
  • g178319_3p_x_at
  • g180828_3p_a_at
  • g4885144_3p_x_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • CODA1_HUMAN
  • A6NFR5
  • B9EGD2
  • E7EWL8
  • Q13992
  • Q13993
  • Q13994
  • Q13995
  • Q13996
  • Q5TAT4
  • Q5TAT5
  • Q7KZ33
  • Q7KZ49
  • Q99228
  • Q9NQ52
sequenceLength 717
species [Species:48887] Homo sapiens
stId uniprot:Q5TAT6
url http://purl.uniprot.org/uniprot/Q5TAT6

Referrals

(referenceEntity)
(referenceSequence)
(interactor)
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