Protein COL18A1

URN urn:agi-llid:1309
Total Entities 0
Connectivity 739
Name COL18A1
Description collagen type XVIII alpha 1 chain
Notes This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Primary Cell Localization Extracellular

Pathway Proteins Involved in Diabetes Mellitus Type 1
Proteins Involved in Ulcerative Colitis
Proteins Involved in Glioma
Proteins Involved in Endometriosis
Angiogenesis in Endometriosis
Proteins Involved in Age-Related Macular Degeneration
Proteins Involved in Cataract
VEGFA in Neovascular Glaucoma
FIGF -> AP-1 Expression Target
FIGF -> NCOR2 Expression Target
VEGF Signaling
TGFB1-ACVRL1 Expression Targets
VEGFA -> ATF/CREB/ELK-SRF Expression Targets
VEGFC -> CTNNB Expression Target
VEGFA -> NFATC Expression Targets
VEGFA -> STAT Expression Targets
VEGFC -> ATF Expression Target
VEGFA -> FOXO3A Expression Targets
VEGFA -> AP-1/CREBBP/MYC Expression Targets
VEGFA -> CTNNB/CTNND Expression Targets
VEGFA -> NCOR2 Expression Target
VEGFR -> CTNND Signaling
VEGFR -> CTNNB Signaling
VEGFR -> NFATC Signaling
VEGFR -> STAT Signaling
VEGFR -> AP-1/CREB/MYC Signaling
VEGFR -> FOXO3A Signaling
VEGFR -> ATF/CREB/ELK-SRF Signaling
Model of PPARG signaling in psoriasis

Group Genes Associated with Mental Retardation and Brain Malformations in Epilepsy

MedScan ID 1309

LocusLink ID 1309
80781
12822
85251

Alias collagen, type XVIII, alpha 1
mEndo
OTTHUMP00000115473
Col18a I
collagen XVIII
OTTHUMP00000115472
FLJ34914
KNO1
collagen, type XVIII, alpha
alpha 1 type XVIII collagen isoform 1
Knobloch syndrome protein
collagen type 18
COL18A1
OTTMUSP00000023766
multi-functional protein mfp
Collagen alpha 1(XVIII) chain
murine endostatin
collagen alpha-1(XVIII) chain isoform 1 preproprotein
collagen, type XVIII, alpha I
MGC74745
Knobloch syndrome gene
COL18A1_2
LOC51695
procollagen, type XVIII, alpha
OTTMUSP00000023764
human endostatin
procollagen, type XVIII, alpha I
recombinant human endostatin
FLJ27325
alpha 1 type XVIII collagen
alpha 1 type XVIII collagen isoform 3
rhEndostatin
type XVIII collagen
hEndo
procollagen, type XVIII, alpha 1
alpha 1 type XVIII collagen isoform 2
KS
KNO
antiangiogenic agent
endostatin
collagen alpha-1(XVIII) chain
alpha-1(XVIII) collagen

GO ID 0005201
0030020
0046872
0001525
0009887
0007155
0001886
0030198
0008285
0030335
0008284
2000353
0042493
0051599
0007601
0005604
0005581
0062023
0005788
0070062
0031012
0005576
0005615
0030938

KEGG ID hsa:80781
mmu:12822

Organism Homo sapiens {Organism urn:agi-taxid:9606}
Mus musculus {Organism urn:agi-taxid:10090}
Rattus norvegicus {Organism urn:agi-taxid:10116}
Homo sapiens
Mus musculus
Rattus norvegicus

Mouse chromosome position 10 39.72 cM

OMIM ID 120328
267750

Rat chromosome position 20p12

Hugo ID 2195

Human chromosome position 21q22.3

Swiss-Prot Accession D3DSM5
P39060
D3DSM4
P39060.5
P39061
E9QPX1
P39061.4
F1LR02
A8MVI4
Q58EX6
Q6RZ39
Q6RZ40
Q6RZ41
Q8N4S4
Q8WXI5
Q96T70
Q9UK38
Q9Y6Q7
Q9Y6Q8
Q60672
Q61434
Q61437
Q62001
Q62002
Q6NZK9
Q6P1Y4
Q8CCZ8
Q9CRT2
Q9JK63

PIR ID A56101
B56101

GenBank ID NC_000021
NM_130445
NP_569712
NM_130444
NP_569711
NM_030582
NP_085059
NG_011903
AH013565
AAR83296
AAR83297
AAR83298
AL163302
CAB90482
BX322561
BX322562
BX322563
CH471079
EAX09338
EAX09339
EAX09340
EAX09341
EAX09342
EAX09343
EAX09344
HF584235
CCQ43732
KF457341
KF457343
KF511425
KX545276
ANT47187
AF018081
AAC39658
AF018082
AAC39659
AF184060
AAF01310
AF333246
AF333247
AAK50626
AF416592
AAL37720
AK098216
AK130835
BC033715
AAH33715
BC063833
AAH63833
CN389577
L22548
AAA51864
P39060
NC_000076
XM_006513174
XP_006513237
XM_006513173
XP_006513236
XM_006513176
XP_006513239
XM_011243346
XP_011241648
NM_009929
NP_034059
NM_001109991
NP_001103461
XM_011243347
XP_011241649
AC055777
AC159334
AH006757
AAC52901
AAC52902
AAC52903
CH466553
EDL31819
EDL31820
AF257775
AAF69009
AK014292
BAB29249
AK031798
BAC27554
BC008227
BC043697
BC062931
BC064817
AAH64817
BC066080
AAH66080
CF171159
D17546
BAA04483
L16898
AAA37434
L22545
AAA19787
U03714
AAA20657
U11636
AAC52178
U11637
AAC52179
P39061
NC_005119
NM_053489
NP_445941
AC_000088
AABR07044596
AAHX01100117
AAHX01100118
AAHX01100119
AAHX01100120
AAHX01100121
AAHX01100122
AAHX01100123
AAHX01100124
AAHX01100125
AAHX01100126
AAHX01100127
CH473988
EDL97114
EDL97116
AF189709
AAF00975
AJ236873
CAB44263
CA505156
CA510744
CA513367
CO385937
DV216514
FM035839
FM037592
FQ223217

Swiss-Prot ID COIA1_HUMAN
COIA1_MOUSE

Cell Localization Secreted
Extracellular space
Extracellular matrix
Basement membrane

Ensembl ID ENSG00000182871
ENSP00000347665.5
ENST00000355480.10
ENSP00000352798.4
ENST00000359759.8
ENSP00000383191.2
ENST00000400337.6
ENSMUSG00000001435
ENSMUSP00000101049.1
ENSMUST00000105409.7
ENSMUSP00000080358.6
ENSMUST00000081654.12
ENSMUSP00000072538.4
ENSMUST00000072755.11
ENSRNOG00000001229
ENSRNOP00000047962.4
ENSRNOT00000045315.4

MGI ID MGI:88451

RGD ID 70936