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FLASH GENE

Symbol

COL13A1

contributors: mct - updated : 11-01-2016

HGNC name	collagen, type XIII, alpha 1
HGNC id	2190

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMS19 congenital myasthenic syndrome, 19
Location	10q22.1      Physical location : 71.561.643 - 71.718.903

DNA

TYPE	functioning gene
STRUCTURE	157.29 kb     39 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	cen - COL13A1 - P4HA1 - qter
Authors	Horelli-Kuitunen (97)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001130103 40 - 3148 NP_001123575 - 717 - 2003 12832406 V2 - - 3100 - 705 - 2003 12832406 V3 - - 3085 - 700 - 2003 12832406 V4 - - 3079 - 698 - 2003 12832406 NM_080801 38 - 3071 NP_542991 - 695 - 2003 12832406 V6 - - 3091 - 702 - 2003 12832406 V7 - - 3094 - 703 - 2003 12832406 V8 - - 3100 - 705 - 2003 12832406 V9 - - 3049 - 688 - 2003 12832406 V10 - - 3013 - 676 - 2003 12832406 NM_080800 38 - 3044 NP_542990 - 686 - 2003 12832406 V12 - - 3058 - 691 - 2003 12832406 V13 - - 3055 - 690 - 2003 12832406 V14 - - 2977 - 664 - 2003 12832406 NM_080802 37 - 2990 NP_542992 - 668 - 2003 12832406 V16 - - 2965 - 660 - 2003 12832406 V17 - - 2956 - 657 - 2003 12832406 V18 - - 2950 - 655 - 2003 12832406 NM_080805 34 - 2815 NP_542995 - 610 - 2003 12832406 NM_080798 35 - 2921 NP_542988 - 645 - 2003 12832406

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive female system ovary         male system prostate       Respiratory lung         Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective         Connective bone       Muscular striatum skeletal     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol   chondrocyte   fibroblast Skeleton osteoblast Skeleton osteoblast

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a transmembrane segment (TM1)

conjugated

GlycoP

mono polymer

homomer , trimer

HOMOLOGY

Homologene

FAMILY

type IV collagen family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	localized to the human muscle motor endplate

basic FUNCTION	involved in maintenance of connective tissues
	likely has an important role in bone modeling, and in particular, it may have a function in coupling the regulation of bone mass to mechanical use
	nonfibrillar transmembrane collagen
	is a novel muscle-derived cue necessary for the maturation and function of the vertebrate NMJ
	crucial role of COL13A1 in the formation and maintenance of the neuromuscular junction (NMJ)
	essential role in the organization of terminal Schwann cells and NMJ formation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

trimers of two alpha 1(IV) and one alpha 2(IV) chain

INTERACTION

DNA

RNA

small molecule

protein

interacting by its ectodomain with fibronectin,heparin,nidogen2 and perlecan

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMS19

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

electrophysiological recordings from the Col13a1-/- mice indicated impaired presynaptic function