COL13A1
entrez
1305
canonical
uniprot
Q5TAT6
canonical
ensembl
ENSG00000197467
resolver
ensp
ENSP00000346553
resolver
ensp
ENSP00000350463
resolver
ensp
ENSP00000381949
resolver
ensp
ENSP00000428057
resolver
ensp
ENSP00000428342
resolver
ensp
ENSP00000430061
resolver
ensp
ENSP00000430173
resolver
ensp
ENSP00000496051
resolver
ensp
ENSP00000500966
resolver
ensp
ENSP00000501050
resolver
ensp
ENSP00000501058
resolver
ensp
ENSP00000501084
resolver
ensp
ENSP00000501125
resolver
enst
ENST00000357811
resolver
enst
ENST00000645393
resolver
enst
ENST00000673628
resolver
enst
ENST00000674121
resolver
genesymbol
COL13A1
resolver
hgnc
HGNC:2190
resolver
uniprot
A0A2R8YGI3
resolver
uniprot
A0A669KB16
resolver
uniprot
A0A669KB28
resolver
uniprot
A0A6E1W314
resolver
uniprot
A6NFR5
resolver
uniprot
B9EGD2
resolver
uniprot
E7EWL8
resolver
uniprot
Q13992
resolver
uniprot
Q13993
resolver
uniprot
Q13994
resolver
uniprot
Q13995
resolver
uniprot
Q13996
resolver
uniprot
Q5TAT4
resolver
uniprot
Q5TAT5
resolver
uniprot
Q7KZ33
resolver
uniprot
Q7KZ49
resolver
uniprot
Q99228
resolver
uniprot
Q9NQ52
resolver
uniprot_entry
A0A2R8YGI3_HUMAN
resolver
uniprot_entry
A0A669KB16_HUMAN
resolver
uniprot_entry
A0A669KB28_HUMAN
resolver
uniprot_entry
A0A6E1W314_HUMAN
resolver
uniprot_entry
CODA1_HUMAN
resolver
uniprot_sec
A6NFR5
resolver
uniprot_sec
B9EGD2
resolver
uniprot_sec
E7EWL8
resolver
uniprot_sec
Q13992
resolver
uniprot_sec
Q13993
resolver
uniprot_sec
Q13994
resolver
uniprot_sec
Q13995
resolver
uniprot_sec
Q13996
resolver
uniprot_sec
Q5TAT4
resolver
uniprot_sec
Q5TAT5
resolver
uniprot_sec
Q7KZ33
resolver
uniprot_sec
Q7KZ49
resolver
uniprot_sec
Q99228
resolver
uniprot_sec
Q9NQ52
resolver
amino_acid_sequence
MVAERTHKAAATGARGPGELGAPGTVALVAARAERGARLPSPGSCGLLTLALCSLALSLLAHFRTAELQARVLRLEAERGEQQMETAILGRVNQLLDEKWKLHSRRRREAPKTSPGCNCPPGPPGPTGRPGLPGDKGAIGMPGRVGSPGDAGLSIIGPRGPPGQPGTRGFPGFPGPIGLDGKPGHPGPKGDMGLTGPPGQPGPQGQKGEKGQCGEYPHRECLSSMPAALRSSQIIALKLLPLLNSVRLAPPPVIKRRTFQGEQSQASIQGPPGPPGPPGPSGPLGHPGLPGPMGPPGLPGPPGPKGDPGIQGYHGRKGERGMPGMPGKHGAKGAPGIAVAGMKGEPGIPGTKGEKGAEGSPGLPGLLGQKGEKGDAGNSIGGGRGEPGPPGLPGPPGPKGEAGVDGQVGPPGQPGDKGERGAAGEQGPDGPKGSKGEPGKGEMVDYNGNINEALQEIRTLALMGPPGLPGQIGPPGAPGIPGQKGEIGLPGPPGHDGEKGPRGKPGDMGPPGPQGPPGKDGPPGVKGENGHPGSPGEKGEKGETGQAGSPGEKGEAGEKGNPGAEVPGLPGPEGPPGPPGLQGVPGPKGEAGLDGAKGEKGFQGEKGDRGPLGLPGASGLDGRPGPPGTPGPIGVPGPAGPKGERGSKGDPGMTGPTGAAGLPGLHGPPGDKGNRGERGKKGSRGPKGDKGDQGAPGLDAPCPLGEDGLPVQGCWNK
uniprot
proteins
disease_involvement
DISEASE: Myasthenic syndrome, congenital, 19 (CMS19) [MIM:616720]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. {ECO:0000269|PubMed:26626625}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:Q9R1N9, ECO:0000269|PubMed:10865988, ECO:0000269|PubMed:11956183, ECO:0000269|PubMed:26626625}.
uniprot
proteins
mass_dalton
69950
uniprot
proteins
pubmed
10865988
uniprot
proteins
pubmed
11013208
uniprot
proteins
pubmed
11956183
uniprot
proteins
pubmed
1447209
uniprot
proteins
pubmed
1447210
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1698771
uniprot
proteins
pubmed
2459707
uniprot
proteins
pubmed
26626625
uniprot
proteins
pubmed
3547403
uniprot
proteins
pubmed
8246446
uniprot
proteins
sequence_length
717
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11013208}; Single-pass type II membrane protein {ECO:0000269|PubMed:11013208}. Postsynaptic cell membrane {ECO:0000269|PubMed:26626625}.
uniprot
proteins
transmembrane_region
TRANSMEM 45..61; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins