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P29400

- CO4A5_HUMAN

UniProt

P29400 - CO4A5_HUMAN

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Protein

Collagen alpha-5(IV) chain

Gene

COL4A5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.

GO - Molecular functioni

  1. extracellular matrix structural constituent Source: InterPro

GO - Biological processi

  1. axon guidance Source: Reactome
  2. collagen catabolic process Source: Reactome
  3. extracellular matrix disassembly Source: Reactome
  4. extracellular matrix organization Source: Reactome
  5. neuromuscular junction development Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_118779. Extracellular matrix organization.
REACT_121139. Collagen biosynthesis and modifying enzymes.
REACT_13552. Integrin cell surface interactions.
REACT_150180. Assembly of collagen fibrils and other multimeric structures.
REACT_150268. Anchoring fibril formation.
REACT_150401. Collagen degradation.
REACT_163874. Non-integrin membrane-ECM interactions.
REACT_163906. ECM proteoglycans.
REACT_16888. Signaling by PDGF.
REACT_169262. Laminin interactions.
REACT_18312. NCAM1 interactions.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-5(IV) chain
Gene namesi
Name:COL4A5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:2207. COL4A5.

Subcellular locationi

GO - Cellular componenti

  1. basal lamina Source: Ensembl
  2. collagen type IV trimer Source: ProtInc
  3. endoplasmic reticulum lumen Source: Reactome
  4. extracellular region Source: Reactome
  5. neuromuscular junction Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Basement membrane, Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Alport syndrome, X-linked (APSX) [MIM:301050]: A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.21 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541G → D in APSX; adult type.
VAR_001914
Natural varianti114 – 1141G → S in APSX.
VAR_007991
Natural varianti129 – 1291G → E in APSX; juvenile type.
VAR_001915
Natural varianti129 – 1291G → V in APSX; juvenile type.
VAR_001916
Natural varianti174 – 1741G → R in APSX. 1 Publication
VAR_001917
Natural varianti177 – 1771G → C in APSX; presenting with dot-and-fleck retinopathy. 1 Publication
VAR_011220
Natural varianti177 – 1771G → R in APSX; adult type. 1 Publication
VAR_001918
Natural varianti192 – 1921G → R in APSX. 1 Publication
VAR_011221
Natural varianti204 – 2041G → V in APSX; juvenile type.
VAR_011222
Natural varianti216 – 2161G → R in APSX; juvenile type. 1 Publication
VAR_001919
Natural varianti219 – 2191G → S in APSX.
VAR_001920
Natural varianti230 – 2301G → R in APSX; juvenile type.
VAR_011223
Natural varianti239 – 2391G → E in APSX.
VAR_011224
Natural varianti264 – 2641G → R in APSX; adult type.
VAR_011225
Natural varianti289 – 2891G → V in APSX; juvenile type.
VAR_001921
Natural varianti292 – 2921G → R in APSX. 1 Publication
VAR_011226
Natural varianti292 – 2921G → V in APSX; juvenile type.
VAR_001922
Natural varianti295 – 2951G → D in APSX. 1 Publication
VAR_011227
Natural varianti298 – 2981G → S in APSX.
VAR_011228
Natural varianti319 – 3191G → R in APSX; juvenile type. 1 Publication
VAR_011229
Natural varianti325 – 3251G → E in APSX. 1 Publication
VAR_001923
Natural varianti325 – 3251G → R in APSX; juvenile and adult types. 3 Publications
VAR_001924
Natural varianti331 – 3311G → V in APSX.
VAR_007992
Natural varianti365 – 3673Missing in APSX; juvenile type.
VAR_001926
Natural varianti365 – 3651G → E in APSX; juvenile type.
VAR_001925
Natural varianti371 – 3711G → E in APSX; juvenile type.
VAR_001927
Natural varianti374 – 3741G → A in APSX.
VAR_001928
Natural varianti383 – 3831G → D in APSX; juvenile type.
VAR_001929
Natural varianti400 – 4001G → E in APSX; adult type. 1 Publication
VAR_001930
Natural varianti406 – 4061G → V in APSX; adult type. 1 Publication
VAR_001931
Natural varianti409 – 4091G → D in APSX.
VAR_001932
Natural varianti412 – 4121G → V in APSX; adult type.
VAR_011230
Natural varianti415 – 4151G → R in APSX. 1 Publication
VAR_011231
Natural varianti420 – 4201G → E in APSX; juvenile type.
VAR_011232
Natural varianti420 – 4201G → V in APSX. 1 Publication
VAR_011233
Natural varianti423 – 4231G → E in APSX.
VAR_011234
Natural varianti456 – 4583Missing in APSX. 1 Publication
VAR_001935
Natural varianti466 – 4661G → E in APSX.
VAR_001936
Natural varianti472 – 4721G → R in APSX.
VAR_007993
Natural varianti491 – 4911G → E in APSX; juvenile type.
VAR_011235
Natural varianti494 – 4941G → D in APSX; adult type.
VAR_001937
Natural varianti496 – 50712Missing in APSX; juvenile type.
VAR_001938Add
BLAST
Natural varianti497 – 4971G → C in APSX; adult type.
VAR_011236
Natural varianti521 – 5211G → C in APSX. 1 Publication
VAR_001939
Natural varianti521 – 5211G → S in APSX.
VAR_001940
Natural varianti524 – 5241G → D in APSX; adult type.
VAR_011237
Natural varianti545 – 5451G → R in APSX.
VAR_007994
Natural varianti545 – 5451G → V in APSX.
VAR_007995
Natural varianti558 – 5581G → R in APSX. 1 Publication
VAR_011238
Natural varianti561 – 5611G → R in APSX.
VAR_007996
Natural varianti567 – 5671G → A in APSX; juvenile type.
VAR_001941
Natural varianti573 – 5731G → D in APSX. 1 Publication
VAR_011239
Natural varianti579 – 5791G → E in APSX. 1 Publication
VAR_011240
Natural varianti579 – 5791G → R in APSX; adult type.
VAR_007997
Natural varianti603 – 6031G → V in APSX. 1 Publication
VAR_011241
Natural varianti609 – 6091G → R in APSX; juvenile type.
VAR_011242
Natural varianti609 – 6091G → V in APSX; juvenile type.
VAR_001942
Natural varianti621 – 6211G → C in APSX.
VAR_011244
Natural varianti624 – 6241G → D in APSX. 2 Publications
VAR_011245
Natural varianti629 – 6291G → D in APSX. 1 Publication
VAR_011246
Natural varianti632 – 6321G → D in APSX.
VAR_011247
Natural varianti633 – 6331E → K in APSX. 1 Publication
VAR_011248
Natural varianti635 – 6351G → D in APSX. 1 Publication
VAR_007998
Natural varianti638 – 6381G → A in APSX. 1 Publication
VAR_001944
Natural varianti638 – 6381G → S in APSX; juvenile type.
VAR_007999
Natural varianti638 – 6381G → V in APSX. 1 Publication
VAR_001943
Natural varianti653 – 6531G → R in APSX; juvenile type. 1 Publication
VAR_001945
Natural varianti669 – 6691G → A in APSX; juvenile type.
VAR_008000
Natural varianti681 – 6811G → D in APSX.
VAR_011249
Natural varianti684 – 6841G → V in APSX; adult type.
VAR_001947
Natural varianti687 – 6871G → E in APSX.
VAR_008001
Natural varianti722 – 7221G → E in APSX. 1 Publication
VAR_011250
Natural varianti739 – 7391P → S in APSX; juvenile type. 1 Publication
Corresponds to variant rs104886164 [ dbSNP | Ensembl ].
VAR_011252
Natural varianti740 – 7401G → E in APSX; juvenile type.
VAR_001948
Natural varianti743 – 7431G → D in APSX.
VAR_008002
Natural varianti772 – 7721G → D in APSX; juvenile type.
VAR_001949
Natural varianti796 – 7961G → R in APSX. 1 Publication
VAR_001950
Natural varianti802 – 8076Missing in APSX. 1 Publication
VAR_011254
Natural varianti802 – 8021G → R in APSX.
VAR_011253
Natural varianti808 – 8081G → E in APSX; adult type.
VAR_008003
Natural varianti811 – 8111G → V in APSX; juvenile type.
VAR_011255
Natural varianti822 – 8243Missing in APSX.
VAR_008004
Natural varianti822 – 8221G → R in APSX. 1 Publication
VAR_011256
Natural varianti852 – 8521G → E in APSX; juvenile type.
VAR_008005
Natural varianti852 – 8521G → R in APSX.
VAR_001951
Natural varianti864 – 87512Missing in APSX. 1 Publication
VAR_011257Add
BLAST
Natural varianti866 – 8661G → E in APSX; adult type.
VAR_001952
Natural varianti869 – 8691G → R in APSX; juvenile type. 2 Publications
VAR_001953
Natural varianti872 – 8721G → R in APSX. 1 Publication
VAR_001954
Natural varianti878 – 8781G → R in APSX.
VAR_008006
Natural varianti898 – 8981M → V in APSX; mild phenotype. 1 Publication
VAR_011258
Natural varianti902 – 9021G → V in APSX; juvenile type. 1 Publication
VAR_011259
Natural varianti911 – 9111G → E in APSX. 1 Publication
VAR_011260
Natural varianti941 – 9411G → C in APSX. 1 Publication
VAR_011261
Natural varianti942 – 9421Missing in APSX.
VAR_001955
Natural varianti947 – 9471G → D in APSX. 1 Publication
VAR_011262
Natural varianti953 – 9531G → V in APSX; found on the same allele as variant Glu-1211. 1 Publication
Corresponds to variant rs78972735 [ dbSNP | Ensembl ].
VAR_011263
Natural varianti988 – 9925Missing in APSX; adult type.
VAR_008007
Natural varianti1006 – 10061G → A in APSX. 1 Publication
VAR_011264
Natural varianti1006 – 10061G → V in APSX. 1 Publication
VAR_011265
Natural varianti1015 – 10151G → E in APSX.
VAR_011266
Natural varianti1015 – 10151G → V in APSX.
VAR_011267
Natural varianti1030 – 10301G → S in APSX. 1 Publication
VAR_011268
Natural varianti1036 – 10361G → V in APSX.
VAR_011269
Natural varianti1039 – 10391G → S in APSX; juvenile type.
VAR_011270
Natural varianti1045 – 10451G → E in APSX. 1 Publication
VAR_011271
Natural varianti1066 – 10661G → R in APSX.
VAR_011272
Natural varianti1066 – 10661G → S in APSX. 1 Publication
VAR_011273
Natural varianti1086 – 10861G → D in APSX. 1 Publication
VAR_011274
Natural varianti1104 – 11041G → V in APSX.
VAR_001956
Natural varianti1107 – 11071G → R in APSX. 1 Publication
VAR_008008
Natural varianti1143 – 11431G → D in APSX; juvenile type. 1 Publication
VAR_001957
Natural varianti1143 – 11431G → S in APSX; adult type.
VAR_001958
Natural varianti1158 – 11581G → R in APSX. 1 Publication
VAR_011275
Natural varianti1161 – 11611G → R in APSX.
VAR_008009
Natural varianti1167 – 11671G → S in APSX. 1 Publication
VAR_011276
Natural varianti1170 – 11701G → S in APSX. 1 Publication
VAR_011277
Natural varianti1182 – 11821G → R in APSX; juvenile type.
VAR_001959
Natural varianti1196 – 11961G → R in APSX. 1 Publication
VAR_011278
Natural varianti1205 – 12051G → C in APSX; juvenile type.
VAR_011279
Natural varianti1211 – 12111G → E in APSX; found on the same allele as variant Val-953.
VAR_011280
Natural varianti1211 – 12111G → R in APSX.
VAR_008010
Natural varianti1220 – 12201G → D in APSX.
VAR_008011
Natural varianti1229 – 12291G → D in APSX; adult type. 1 Publication
VAR_011281
Natural varianti1241 – 12411G → C in APSX. 1 Publication
VAR_001960
Natural varianti1244 – 12441G → D in APSX. 1 Publication
VAR_011282
Natural varianti1252 – 12521G → S in APSX; adult type.
VAR_011283
Natural varianti1261 – 12611G → E in APSX. 1 Publication
VAR_011284
Natural varianti1270 – 12701G → S in APSX.
VAR_001961
Natural varianti1333 – 13331G → S in APSX.
VAR_008012
Natural varianti1357 – 13571G → S in APSX. 1 Publication
VAR_011285
Natural varianti1379 – 13791G → V in APSX; adult type.
VAR_001962
Natural varianti1410 – 14101R → C in APSX; adult and juvenile types. 1 Publication
VAR_001963
Natural varianti1421 – 14211G → W in APSX; adult type. 1 Publication
VAR_001964
Natural varianti1422 – 14221R → C in APSX; juvenile type.
VAR_001965
Natural varianti1427 – 14271G → V in APSX; adult type.
VAR_008013
Natural varianti1442 – 14421G → D in APSX.
VAR_008014
Natural varianti1451 – 14511G → S in APSX.
VAR_001966
Natural varianti1486 – 14861G → A in APSX; adult type.
VAR_008015
Natural varianti1488 – 14881S → F in APSX.
VAR_011287
Natural varianti1498 – 14981A → D in APSX. 1 Publication
VAR_001967
Natural varianti1511 – 15111R → H in APSX; juvenile type; could be a non pathogenic variant. 1 Publication
VAR_011288
Natural varianti1517 – 15171P → T in APSX; juvenile type. 2 Publications
VAR_001968
Natural varianti1538 – 15381W → S in APSX; adult type. 1 Publication
VAR_001969
Natural varianti1563 – 15631R → Q in APSX. 1 Publication
VAR_001970
Natural varianti1564 – 15641C → S in APSX; adult type. 1 Publication
VAR_001971
Natural varianti1567 – 15671C → R in APSX; juvenile type.
VAR_011289
Natural varianti1596 – 15961G → D in APSX. 1 Publication
VAR_001972
Natural varianti1597 – 168589Missing in APSX. 1 Publication
VAR_019594Add
BLAST
Natural varianti1649 – 16491L → R in APSX; adult type. 3 Publications
VAR_001973
Natural varianti1677 – 16771R → P in APSX. 1 Publication
VAR_011290
Natural varianti1677 – 16771R → Q in APSX. 1 Publication
VAR_001974
Natural varianti1678 – 16781C → W in APSX. 1 Publication
VAR_011291
Natural varianti1679 – 16857Missing in APSX.
VAR_019595
Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome. This results in a phenotype with features of diffuse leiomyomatosis and Alport syndrome (DL-ATS).

Keywords - Diseasei

Alport syndrome, Deafness, Disease mutation

Organism-specific databases

MIMi301050. phenotype.
Orphaneti88917. X-linked Alport syndrome.
1018. X-linked diffuse leiomyomatosis - Alport syndrome.
PharmGKBiPA26722.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626Sequence AnalysisAdd
BLAST
Chaini27 – 16851659Collagen alpha-5(IV) chainPRO_0000005852Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi125 – 1251N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi451 – 451InterchainPROSITE-ProRule annotation
Disulfide bondi481 – 481InterchainPROSITE-ProRule annotation
Disulfide bondi484 – 484InterchainPROSITE-ProRule annotation
Disulfide bondi1476 ↔ 1567Or C-1476 with C-1564PROSITE-ProRule annotation
Disulfide bondi1509 ↔ 1564Or C-1509 with C-1567PROSITE-ProRule annotation
Disulfide bondi1521 ↔ 1527PROSITE-ProRule annotation
Cross-linki1549 – 1549S-Lysyl-methionine sulfilimine (Met-Lys) (interchain with K-1667)By similarity
Disulfide bondi1586 ↔ 1681Or C-1586 with C-1678PROSITE-ProRule annotation
Disulfide bondi1620 ↔ 1678Or C-1620 with C-1681PROSITE-ProRule annotation
Disulfide bondi1632 ↔ 1638PROSITE-ProRule annotation
Cross-linki1667 – 1667S-Lysyl-methionine sulfilimine (Lys-Met) (interchain with M-1549)By similarity

Post-translational modificationi

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens.
The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation

Proteomic databases

MaxQBiP29400.
PaxDbiP29400.
PRIDEiP29400.

PTM databases

PhosphoSiteiP29400.

Expressioni

Tissue specificityi

Isoform 2 is found in kidney.

Gene expression databases

BgeeiP29400.
CleanExiHS_COL4A5.
ExpressionAtlasiP29400. baseline and differential.
GenevestigatoriP29400.

Interactioni

Subunit structurei

There are six type IV collagen isoforms, alpha 1(IV)-alpha 6(IV), each of which can form a triple helix structure with 2 other chains to generate type IV collagen network.

Protein-protein interaction databases

BioGridi107684. 9 interactions.
IntActiP29400. 9 interactions.
MINTiMINT-1388512.
STRINGi9606.ENSP00000331902.

Structurei

3D structure databases

ProteinModelPortaliP29400.
SMRiP29400. Positions 1460-1685.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1461 – 1685225Collagen IV NC1PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni27 – 4115Nonhelical region (NC2)Add
BLAST
Regioni42 – 14561415Triple-helical regionAdd
BLAST

Domaini

Alpha chains of type IV collagen have a non-collagenous domain (NC1) at their C-terminus, frequent interruptions of the G-X-Y repeats in the long central triple-helical domain (which may cause flexibility in the triple helix), and a short N-terminal triple-helical 7S domain.

Sequence similaritiesi

Belongs to the type IV collagen family.PROSITE-ProRule annotation
Contains 1 collagen IV NC1 (C-terminal non-collagenous) domain.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiNOG12793.
GeneTreeiENSGT00770000120455.
HOGENOMiHOG000085652.
HOVERGENiHBG004933.
InParanoidiP29400.
KOiK06237.
OMAiCEPGPPG.
OrthoDBiEOG7RZ5P3.
TreeFamiTF344135.

Family and domain databases

Gene3Di2.170.240.10. 1 hit.
InterProiIPR016187. C-type_lectin_fold.
IPR008160. Collagen.
IPR001442. Collagen_VI_NC.
[Graphical view]
PfamiPF01413. C4. 2 hits.
PF01391. Collagen. 22 hits.
[Graphical view]
SMARTiSM00111. C4. 2 hits.
[Graphical view]
SUPFAMiSSF56436. SSF56436. 2 hits.
PROSITEiPS51403. NC1_IV. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P29400-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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        10         20         30         40         50
MKLRGVSLAA GLFLLALSLW GQPAEAAACY GCSPGSKCDC SGIKGEKGER
60 70 80 90 100
GFPGLEGHPG LPGFPGPEGP PGPRGQKGDD GIPGPPGPKG IRGPPGLPGF
110 120 130 140 150
PGTPGLPGMP GHDGAPGPQG IPGCNGTKGE RGFPGSPGFP GLQGPPGPPG
160 170 180 190 200
IPGMKGEPGS IIMSSLPGPK GNPGYPGPPG IQGLPGPTGI PGPIGPPGPP
210 220 230 240 250
GLMGPPGPPG LPGPKGNMGL NFQGPKGEKG EQGLQGPPGP PGQISEQKRP
260 270 280 290 300
IDVEFQKGDQ GLPGDRGPPG PPGIRGPPGP PGGEKGEKGE QGEPGKRGKP
310 320 330 340 350
GKDGENGQPG IPGLPGDPGY PGEPGRDGEK GQKGDTGPPG PPGLVIPRPG
360 370 380 390 400
TGITIGEKGN IGLPGLPGEK GERGFPGIQG PPGLPGPPGA AVMGPPGPPG
410 420 430 440 450
FPGERGQKGD EGPPGISIPG PPGLDGQPGA PGLPGPPGPA GPHIPPSDEI
460 470 480 490 500
CEPGPPGPPG SPGDKGLQGE QGVKGDKGDT CFNCIGTGIS GPPGQPGLPG
510 520 530 540 550
LPGPPGSLGF PGQKGEKGQA GATGPKGLPG IPGAPGAPGF PGSKGEPGDI
560 570 580 590 600
LTFPGMKGDK GELGSPGAPG LPGLPGTPGQ DGLPGLPGPK GEPGGITFKG
610 620 630 640 650
ERGPPGNPGL PGLPGNIGPM GPPGFGPPGP VGEKGIQGVA GNPGQPGIPG
660 670 680 690 700
PKGDPGQTIT QPGKPGLPGN PGRDGDVGLP GDPGLPGQPG LPGIPGSKGE
710 720 730 740 750
PGIPGIGLPG PPGPKGFPGI PGPPGAPGTP GRIGLEGPPG PPGFPGPKGE
760 770 780 790 800
PGFALPGPPG PPGLPGFKGA LGPKGDRGFP GPPGPPGRTG LDGLPGPKGD
810 820 830 840 850
VGPNGQPGPM GPPGLPGIGV QGPPGPPGIP GPIGQPGLHG IPGEKGDPGP
860 870 880 890 900
PGLDVPGPPG ERGSPGIPGA PGPIGPPGSP GLPGKAGASG FPGTKGEMGM
910 920 930 940 950
MGPPGPPGPL GIPGRSGVPG LKGDDGLQGQ PGLPGPTGEK GSKGEPGLPG
960 970 980 990 1000
PPGPMDPNLL GSKGEKGEPG LPGIPGVSGP KGYQGLPGDP GQPGLSGQPG
1010 1020 1030 1040 1050
LPGPPGPKGN PGLPGQPGLI GPPGLKGTIG DMGFPGPQGV EGPPGPSGVP
1060 1070 1080 1090 1100
GQPGSPGLPG QKGDKGDPGI SSIGLPGLPG PKGEPGLPGY PGNPGIKGSV
1110 1120 1130 1140 1150
GDPGLPGLPG TPGAKGQPGL PGFPGTPGPP GPKGISGPPG NPGLPGEPGP
1160 1170 1180 1190 1200
VGGGGHPGQP GPPGEKGKPG QDGIPGPAGQ KGEPGQPGFG NPGPPGLPGL
1210 1220 1230 1240 1250
SGQKGDGGLP GIPGNPGLPG PKGEPGFHGF PGVQGPPGPP GSPGPALEGP
1260 1270 1280 1290 1300
KGNPGPQGPP GRPGLPGPEG PPGLPGNGGI KGEKGNPGQP GLPGLPGLKG
1310 1320 1330 1340 1350
DQGPPGLQGN PGRPGLNGMK GDPGLPGVPG FPGMKGPSGV PGSAGPEGEP
1360 1370 1380 1390 1400
GLIGPPGPPG LPGPSGQSII IKGDAGPPGI PGQPGLKGLP GPQGPQGLPG
1410 1420 1430 1440 1450
PTGPPGDPGR NGLPGFDGAG GRKGDPGLPG QPGTRGLDGP PGPDGLQGPP
1460 1470 1480 1490 1500
GPPGTSSVAH GFLITRHSQT TDAPQCPQGT LQVYEGFSLL YVQGNKRAHG
1510 1520 1530 1540 1550
QDLGTAGSCL RRFSTMPFMF CNINNVCNFA SRNDYSYWLS TPEPMPMSMQ
1560 1570 1580 1590 1600
PLKGQSIQPF ISRCAVCEAP AVVIAVHSQT IQIPHCPQGW DSLWIGYSFM
1610 1620 1630 1640 1650
MHTSAGAEGS GQALASPGSC LEEFRSAPFI ECHGRGTCNY YANSYSFWLA
1660 1670 1680
TVDVSDMFSK PQSETLKAGD LRTRISRCQV CMKRT
Length:1,685
Mass (Da):161,044
Last modified:February 1, 1994 - v2
Checksum:i4450A6762F12A626
GO
Isoform 2 (identifier: P29400-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1264-1264: G → GPTGFQG

Note: Contains 2 extra G-X-X repeats into the triple-helix domain.

Show »
Length:1,691
Mass (Da):161,632
Checksum:iE45612A1C153D123
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti440 – 4412AG → GS in AAA99480. (PubMed:2380186)Curated
Sequence conflicti625 – 6284FGPP → LALQ in AAA99480. (PubMed:2380186)Curated
Sequence conflicti667 – 6682LP → FR in AAA99480. (PubMed:2380186)Curated
Sequence conflicti888 – 8881A → R in AAA99480. (PubMed:2380186)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541G → D in APSX; adult type.
VAR_001914
Natural varianti114 – 1141G → S in APSX.
VAR_007991
Natural varianti129 – 1291G → E in APSX; juvenile type.
VAR_001915
Natural varianti129 – 1291G → V in APSX; juvenile type.
VAR_001916
Natural varianti174 – 1741G → R in APSX. 1 Publication
VAR_001917
Natural varianti177 – 1771G → C in APSX; presenting with dot-and-fleck retinopathy. 1 Publication
VAR_011220
Natural varianti177 – 1771G → R in APSX; adult type. 1 Publication
VAR_001918
Natural varianti192 – 1921G → R in APSX. 1 Publication
VAR_011221
Natural varianti204 – 2041G → V in APSX; juvenile type.
VAR_011222
Natural varianti216 – 2161G → R in APSX; juvenile type. 1 Publication
VAR_001919
Natural varianti219 – 2191G → S in APSX.
VAR_001920
Natural varianti230 – 2301G → R in APSX; juvenile type.
VAR_011223
Natural varianti239 – 2391G → E in APSX.
VAR_011224
Natural varianti264 – 2641G → R in APSX; adult type.
VAR_011225
Natural varianti289 – 2891G → V in APSX; juvenile type.
VAR_001921
Natural varianti292 – 2921G → R in APSX. 1 Publication
VAR_011226
Natural varianti292 – 2921G → V in APSX; juvenile type.
VAR_001922
Natural varianti295 – 2951G → D in APSX. 1 Publication
VAR_011227
Natural varianti298 – 2981G → S in APSX.
VAR_011228
Natural varianti319 – 3191G → R in APSX; juvenile type. 1 Publication
VAR_011229
Natural varianti325 – 3251G → E in APSX. 1 Publication
VAR_001923
Natural varianti325 – 3251G → R in APSX; juvenile and adult types. 3 Publications
VAR_001924
Natural varianti331 – 3311G → V in APSX.
VAR_007992
Natural varianti365 – 3673Missing in APSX; juvenile type.
VAR_001926
Natural varianti365 – 3651G → E in APSX; juvenile type.
VAR_001925
Natural varianti371 – 3711G → E in APSX; juvenile type.
VAR_001927
Natural varianti374 – 3741G → A in APSX.
VAR_001928
Natural varianti383 – 3831G → D in APSX; juvenile type.
VAR_001929
Natural varianti400 – 4001G → E in APSX; adult type. 1 Publication
VAR_001930
Natural varianti406 – 4061G → V in APSX; adult type. 1 Publication
VAR_001931
Natural varianti409 – 4091G → D in APSX.
VAR_001932
Natural varianti412 – 4121G → V in APSX; adult type.
VAR_011230
Natural varianti415 – 4151G → R in APSX. 1 Publication
VAR_011231
Natural varianti420 – 4201G → E in APSX; juvenile type.
VAR_011232
Natural varianti420 – 4201G → V in APSX. 1 Publication
VAR_011233
Natural varianti423 – 4231G → E in APSX.
VAR_011234
Natural varianti430 – 4301A → D.1 Publication
Corresponds to variant rs142883891 [ dbSNP | Ensembl ].
VAR_001933
Natural varianti444 – 4441I → S.3 Publications
Corresponds to variant rs2272946 [ dbSNP | Ensembl ].
VAR_001934
Natural varianti456 – 4583Missing in APSX. 1 Publication
VAR_001935
Natural varianti466 – 4661G → E in APSX.
VAR_001936
Natural varianti472 – 4721G → R in APSX.
VAR_007993
Natural varianti491 – 4911G → E in APSX; juvenile type.
VAR_011235
Natural varianti494 – 4941G → D in APSX; adult type.
VAR_001937
Natural varianti496 – 50712Missing in APSX; juvenile type.
VAR_001938Add
BLAST
Natural varianti497 – 4971G → C in APSX; adult type.
VAR_011236
Natural varianti521 – 5211G → C in APSX. 1 Publication
VAR_001939
Natural varianti521 – 5211G → S in APSX.
VAR_001940
Natural varianti524 – 5241G → D in APSX; adult type.
VAR_011237
Natural varianti545 – 5451G → R in APSX.
VAR_007994
Natural varianti545 – 5451G → V in APSX.
VAR_007995
Natural varianti558 – 5581G → R in APSX. 1 Publication
VAR_011238
Natural varianti561 – 5611G → R in APSX.
VAR_007996
Natural varianti567 – 5671G → A in APSX; juvenile type.
VAR_001941
Natural varianti573 – 5731G → D in APSX. 1 Publication
VAR_011239
Natural varianti579 – 5791G → E in APSX. 1 Publication
VAR_011240
Natural varianti579 – 5791G → R in APSX; adult type.
VAR_007997
Natural varianti603 – 6031G → V in APSX. 1 Publication
VAR_011241
Natural varianti609 – 6091G → R in APSX; juvenile type.
VAR_011242
Natural varianti609 – 6091G → V in APSX; juvenile type.
VAR_001942
Natural varianti619 – 6191P → S.1 Publication
VAR_011243
Natural varianti621 – 6211G → C in APSX.
VAR_011244
Natural varianti624 – 6241G → D in APSX. 2 Publications
VAR_011245
Natural varianti629 – 6291G → D in APSX. 1 Publication
VAR_011246
Natural varianti632 – 6321G → D in APSX.
VAR_011247
Natural varianti633 – 6331E → K in APSX. 1 Publication
VAR_011248
Natural varianti635 – 6351G → D in APSX. 1 Publication
VAR_007998
Natural varianti638 – 6381G → A in APSX. 1 Publication
VAR_001944
Natural varianti638 – 6381G → S in APSX; juvenile type.
VAR_007999
Natural varianti638 – 6381G → V in APSX. 1 Publication
VAR_001943
Natural varianti653 – 6531G → R in APSX; juvenile type. 1 Publication
VAR_001945
Natural varianti664 – 6641K → N.1 Publication
Corresponds to variant rs34077552 [ dbSNP | Ensembl ].
VAR_001946
Natural varianti669 – 6691G → A in APSX; juvenile type.
VAR_008000
Natural varianti681 – 6811G → D in APSX.
VAR_011249
Natural varianti684 – 6841G → V in APSX; adult type.
VAR_001947
Natural varianti687 – 6871G → E in APSX.
VAR_008001
Natural varianti722 – 7221G → E in APSX. 1 Publication
VAR_011250
Natural varianti739 – 7391P → A.1 Publication
Corresponds to variant rs104886164 [ dbSNP | Ensembl ].
VAR_011251
Natural varianti739 – 7391P → S in APSX; juvenile type. 1 Publication
Corresponds to variant rs104886164 [ dbSNP | Ensembl ].
VAR_011252
Natural varianti740 – 7401G → E in APSX; juvenile type.
VAR_001948
Natural varianti743 – 7431G → D in APSX.
VAR_008002
Natural varianti772 – 7721G → D in APSX; juvenile type.
VAR_001949
Natural varianti796 – 7961G → R in APSX. 1 Publication
VAR_001950
Natural varianti802 – 8076Missing in APSX. 1 Publication
VAR_011254
Natural varianti802 – 8021G → R in APSX.
VAR_011253
Natural varianti808 – 8081G → E in APSX; adult type.
VAR_008003
Natural varianti811 – 8111G → V in APSX; juvenile type.
VAR_011255
Natural varianti822 – 8243Missing in APSX.
VAR_008004
Natural varianti822 – 8221G → R in APSX. 1 Publication
VAR_011256
Natural varianti852 – 8521G → E in APSX; juvenile type.
VAR_008005
Natural varianti852 – 8521G → R in APSX.
VAR_001951
Natural varianti864 – 87512Missing in APSX. 1 Publication
VAR_011257Add
BLAST
Natural varianti866 – 8661G → E in APSX; adult type.
VAR_001952
Natural varianti869 – 8691G → R in APSX; juvenile type. 2 Publications
VAR_001953
Natural varianti872 – 8721G → R in APSX. 1 Publication
VAR_001954
Natural varianti878 – 8781G → R in APSX.
VAR_008006
Natural varianti898 – 8981M → V in APSX; mild phenotype. 1 Publication
VAR_011258
Natural varianti902 – 9021G → V in APSX; juvenile type. 1 Publication
VAR_011259
Natural varianti911 – 9111G → E in APSX. 1 Publication
VAR_011260
Natural varianti941 – 9411G → C in APSX. 1 Publication
VAR_011261
Natural varianti942 – 9421Missing in APSX.
VAR_001955
Natural varianti947 – 9471G → D in APSX. 1 Publication
VAR_011262
Natural varianti953 – 9531G → V in APSX; found on the same allele as variant Glu-1211. 1 Publication
Corresponds to variant rs78972735 [ dbSNP | Ensembl ].
VAR_011263
Natural varianti988 – 9925Missing in APSX; adult type.
VAR_008007
Natural varianti1006 – 10061G → A in APSX. 1 Publication
VAR_011264
Natural varianti1006 – 10061G → V in APSX. 1 Publication
VAR_011265
Natural varianti1015 – 10151G → E in APSX.
VAR_011266
Natural varianti1015 – 10151G → V in APSX.
VAR_011267
Natural varianti1030 – 10301G → S in APSX. 1 Publication
VAR_011268
Natural varianti1036 – 10361G → V in APSX.
VAR_011269
Natural varianti1039 – 10391G → S in APSX; juvenile type.
VAR_011270
Natural varianti1045 – 10451G → E in APSX. 1 Publication
VAR_011271
Natural varianti1066 – 10661G → R in APSX.
VAR_011272
Natural varianti1066 – 10661G → S in APSX. 1 Publication
VAR_011273
Natural varianti1086 – 10861G → D in APSX. 1 Publication
VAR_011274
Natural varianti1104 – 11041G → V in APSX.
VAR_001956
Natural varianti1107 – 11071G → R in APSX. 1 Publication
VAR_008008
Natural varianti1143 – 11431G → D in APSX; juvenile type. 1 Publication
VAR_001957
Natural varianti1143 – 11431G → S in APSX; adult type.
VAR_001958
Natural varianti1158 – 11581G → R in APSX. 1 Publication
VAR_011275
Natural varianti1161 – 11611G → R in APSX.
VAR_008009
Natural varianti1167 – 11671G → S in APSX. 1 Publication
VAR_011276
Natural varianti1170 – 11701G → S in APSX. 1 Publication
VAR_011277
Natural varianti1182 – 11821G → R in APSX; juvenile type.
VAR_001959
Natural varianti1196 – 11961G → R in APSX. 1 Publication
VAR_011278
Natural varianti1205 – 12051G → C in APSX; juvenile type.
VAR_011279
Natural varianti1211 – 12111G → E in APSX; found on the same allele as variant Val-953.
VAR_011280
Natural varianti1211 – 12111G → R in APSX.
VAR_008010
Natural varianti1220 – 12201G → D in APSX.
VAR_008011
Natural varianti1229 – 12291G → D in APSX; adult type. 1 Publication
VAR_011281
Natural varianti1241 – 12411G → C in APSX. 1 Publication
VAR_001960
Natural varianti1244 – 12441G → D in APSX. 1 Publication
VAR_011282
Natural varianti1252 – 12521G → S in APSX; adult type.
VAR_011283
Natural varianti1261 – 12611G → E in APSX. 1 Publication
VAR_011284
Natural varianti1270 – 12701G → S in APSX.
VAR_001961
Natural varianti1333 – 13331G → S in APSX.
VAR_008012
Natural varianti1357 – 13571G → S in APSX. 1 Publication
VAR_011285
Natural varianti1379 – 13791G → V in APSX; adult type.
VAR_001962
Natural varianti1410 – 14101R → C in APSX; adult and juvenile types. 1 Publication
VAR_001963
Natural varianti1421 – 14211G → W in APSX; adult type. 1 Publication
VAR_001964
Natural varianti1422 – 14221R → C in APSX; juvenile type.
VAR_001965
Natural varianti1427 – 14271G → V in APSX; adult type.
VAR_008013
Natural varianti1428 – 14281L → M.1 Publication
VAR_011286
Natural varianti1442 – 14421G → D in APSX.
VAR_008014
Natural varianti1451 – 14511G → S in APSX.
VAR_001966
Natural varianti1486 – 14861G → A in APSX; adult type.
VAR_008015
Natural varianti1488 – 14881S → F in APSX.
VAR_011287
Natural varianti1498 – 14981A → D in APSX. 1 Publication
VAR_001967
Natural varianti1511 – 15111R → H in APSX; juvenile type; could be a non pathogenic variant. 1 Publication
VAR_011288
Natural varianti1517 – 15171P → T in APSX; juvenile type. 2 Publications
VAR_001968
Natural varianti1538 – 15381W → S in APSX; adult type. 1 Publication
VAR_001969
Natural varianti1559 – 15591P → A.
VAR_008016
Natural varianti1563 – 15631R → Q in APSX. 1 Publication
VAR_001970
Natural varianti1564 – 15641C → S in APSX; adult type. 1 Publication
VAR_001971
Natural varianti1567 – 15671C → R in APSX; juvenile type.
VAR_011289
Natural varianti1596 – 15961G → D in APSX. 1 Publication
VAR_001972
Natural varianti1597 – 168589Missing in APSX. 1 Publication
VAR_019594Add
BLAST
Natural varianti1649 – 16491L → R in APSX; adult type. 3 Publications
VAR_001973
Natural varianti1677 – 16771R → P in APSX. 1 Publication
VAR_011290
Natural varianti1677 – 16771R → Q in APSX. 1 Publication
VAR_001974
Natural varianti1678 – 16781C → W in APSX. 1 Publication
VAR_011291
Natural varianti1679 – 16857Missing in APSX.
VAR_019595

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1264 – 12641G → GPTGFQG in isoform 2. CuratedVSP_001173

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M58526 mRNA. Translation: AAA99480.1.
AL034369, AL031622, AL035425 Genomic DNA. Translation: CAA22267.2.
AL035425, AL031622, AL034369 Genomic DNA. Translation: CAB90289.2.
AL031622, AL034369, AL035425 Genomic DNA. Translation: CAI43038.1.
AL136364 Genomic DNA. No translation available.
CH471120 Genomic DNA. Translation: EAX02683.1.
M90464 mRNA. Translation: AAA52046.1.
U04520
, U04470, U04471, U04472, U04473, U04474, U04476, U04477, U04478, U04479, U04480, U04483, U04485, U04486, U04487, U04488, U04489, U04490, U04491, U04492, U04493, U04494, U04495, U04496, U04497, U04498, U04499, U04500, U04501, U04502, U04503, U04504, U04505, U04506, U04507, U04508, U04509, U04510, U04511, U04512, U04514, U04515, U04516, U04517, U04518, U04519 Genomic DNA. Translation: AAC27816.1.
U04520
, U04470, U04471, U04472, U04473, U04474, U04476, U04477, U04478, U04479, U04480, U04483, U04485, U04486, U04487, U04488, U04489, U04490, U04491, U04492, U04493, U04494, U04495, U04496, U04497, U04498, U04499, U04500, U04501, U04502, U04503, U04504, U04505, U04506, U04507, U04508, U04509, U04510, AF199451, AF199452, U04511, U04512, U04514, U04515, U04516, U04517, U04518, U04519 Genomic DNA. Translation: AAF66217.2.
M63473
, M63455, M63456, M63457, M63458, M63459, M63460, M63461, M63462, M63463, M63464, M63465, M63466, M63467, M63468, M63470, M63471, M63472 Genomic DNA. Translation: AAA51558.1.
M31115 mRNA. Translation: AAA52045.1.
Z37153 Genomic DNA. Translation: CAA85512.1.
S69168 mRNA. Translation: AAC60612.1.
S59334 mRNA. Translation: AAD13909.1.
S75903 Genomic DNA. Translation: AAB33374.1.
CCDSiCCDS14543.1. [P29400-1]
CCDS35366.1. [P29400-2]
PIRiS22917.
RefSeqiNP_000486.1. NM_000495.4. [P29400-1]
NP_203699.1. NM_033380.2. [P29400-2]
XP_006724679.1. XM_006724616.1. [P29400-2]
UniGeneiHs.369089.

Genome annotation databases

EnsembliENST00000328300; ENSP00000331902; ENSG00000188153. [P29400-2]
ENST00000361603; ENSP00000354505; ENSG00000188153. [P29400-1]
GeneIDi1287.
KEGGihsa:1287.
UCSCiuc004enz.2. human. [P29400-2]

Polymorphism databases

DMDMi461675.

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Web resourcesi

Alport syndrome and COL4A5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M58526 mRNA. Translation: AAA99480.1 .
AL034369 , AL031622 , AL035425 Genomic DNA. Translation: CAA22267.2 .
AL035425 , AL031622 , AL034369 Genomic DNA. Translation: CAB90289.2 .
AL031622 , AL034369 , AL035425 Genomic DNA. Translation: CAI43038.1 .
AL136364 Genomic DNA. No translation available.
CH471120 Genomic DNA. Translation: EAX02683.1 .
M90464 mRNA. Translation: AAA52046.1 .
U04520
, U04470 , U04471 , U04472 , U04473 , U04474 , U04476 , U04477 , U04478 , U04479 , U04480 , U04483 , U04485 , U04486 , U04487 , U04488 , U04489 , U04490 , U04491 , U04492 , U04493 , U04494 , U04495 , U04496 , U04497 , U04498 , U04499 , U04500 , U04501 , U04502 , U04503 , U04504 , U04505 , U04506 , U04507 , U04508 , U04509 , U04510 , U04511 , U04512 , U04514 , U04515 , U04516 , U04517 , U04518 , U04519 Genomic DNA. Translation: AAC27816.1 .
U04520
, U04470 , U04471 , U04472 , U04473 , U04474 , U04476 , U04477 , U04478 , U04479 , U04480 , U04483 , U04485 , U04486 , U04487 , U04488 , U04489 , U04490 , U04491 , U04492 , U04493 , U04494 , U04495 , U04496 , U04497 , U04498 , U04499 , U04500 , U04501 , U04502 , U04503 , U04504 , U04505 , U04506 , U04507 , U04508 , U04509 , U04510 , AF199451 , AF199452 , U04511 , U04512 , U04514 , U04515 , U04516 , U04517 , U04518 , U04519 Genomic DNA. Translation: AAF66217.2 .
M63473
, M63455 , M63456 , M63457 , M63458 , M63459 , M63460 , M63461 , M63462 , M63463 , M63464 , M63465 , M63466 , M63467 , M63468 , M63470 , M63471 , M63472 Genomic DNA. Translation: AAA51558.1 .
M31115 mRNA. Translation: AAA52045.1 .
Z37153 Genomic DNA. Translation: CAA85512.1 .
S69168 mRNA. Translation: AAC60612.1 .
S59334 mRNA. Translation: AAD13909.1 .
S75903 Genomic DNA. Translation: AAB33374.1 .
CCDSi CCDS14543.1. [P29400-1 ]
CCDS35366.1. [P29400-2 ]
PIRi S22917.
RefSeqi NP_000486.1. NM_000495.4. [P29400-1 ]
NP_203699.1. NM_033380.2. [P29400-2 ]
XP_006724679.1. XM_006724616.1. [P29400-2 ]
UniGenei Hs.369089.

3D structure databases

ProteinModelPortali P29400.
SMRi P29400. Positions 1460-1685.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107684. 9 interactions.
IntActi P29400. 9 interactions.
MINTi MINT-1388512.
STRINGi 9606.ENSP00000331902.

Chemistry

ChEMBLi CHEMBL2364188.

PTM databases

PhosphoSitei P29400.

Polymorphism databases

DMDMi 461675.

Proteomic databases

MaxQBi P29400.
PaxDbi P29400.
PRIDEi P29400.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000328300 ; ENSP00000331902 ; ENSG00000188153 . [P29400-2 ]
ENST00000361603 ; ENSP00000354505 ; ENSG00000188153 . [P29400-1 ]
GeneIDi 1287.
KEGGi hsa:1287.
UCSCi uc004enz.2. human. [P29400-2 ]

Organism-specific databases

CTDi 1287.
GeneCardsi GC0XP107683.
GeneReviewsi COL4A5.
H-InvDB HIX0028371.
HGNCi HGNC:2207. COL4A5.
MIMi 301050. phenotype.
303630. gene.
neXtProti NX_P29400.
Orphaneti 88917. X-linked Alport syndrome.
1018. X-linked diffuse leiomyomatosis - Alport syndrome.
PharmGKBi PA26722.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
GeneTreei ENSGT00770000120455.
HOGENOMi HOG000085652.
HOVERGENi HBG004933.
InParanoidi P29400.
KOi K06237.
OMAi CEPGPPG.
OrthoDBi EOG7RZ5P3.
TreeFami TF344135.

Enzyme and pathway databases

Reactomei REACT_118779. Extracellular matrix organization.
REACT_121139. Collagen biosynthesis and modifying enzymes.
REACT_13552. Integrin cell surface interactions.
REACT_150180. Assembly of collagen fibrils and other multimeric structures.
REACT_150268. Anchoring fibril formation.
REACT_150401. Collagen degradation.
REACT_163874. Non-integrin membrane-ECM interactions.
REACT_163906. ECM proteoglycans.
REACT_16888. Signaling by PDGF.
REACT_169262. Laminin interactions.
REACT_18312. NCAM1 interactions.

Miscellaneous databases

GeneWikii COL4A5.
GenomeRNAii 1287.
NextBioi 5205.
PROi P29400.
SOURCEi Search...

Gene expression databases

Bgeei P29400.
CleanExi HS_COL4A5.
ExpressionAtlasi P29400. baseline and differential.
Genevestigatori P29400.

Family and domain databases

Gene3Di 2.170.240.10. 1 hit.
InterProi IPR016187. C-type_lectin_fold.
IPR008160. Collagen.
IPR001442. Collagen_VI_NC.
[Graphical view ]
Pfami PF01413. C4. 2 hits.
PF01391. Collagen. 22 hits.
[Graphical view ]
SMARTi SM00111. C4. 2 hits.
[Graphical view ]
SUPFAMi SSF56436. SSF56436. 2 hits.
PROSITEi PS51403. NC1_IV. 1 hit.
[Graphical view ]
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Publicationsi

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  1. "Structure of the human type IV collagen COL4A5 gene."
    Zhou J., Leinonen A., Tryggvason K.
    J. Biol. Chem. 269:6608-6614(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient."
    Zhou J., Hertz J.M., Leinonen A., Tryggvason K.
    J. Biol. Chem. 267:12475-12481(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE OF 1-910, VARIANT APSX CYS-521.
    Tissue: Kidney.
  5. "Complete primary structure of the triple-helical region and the carboxyl-terminal domain of a new type IV collagen chain, alpha 5(IV)."
    Pihlajaniemi T., Pohjolainen E.R., Myers J.C.
    J. Biol. Chem. 265:13758-13766(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 85-1685.
    Tissue: Placenta.
  6. "Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome."
    Zhou J., Hostikka S.L., Chow L.T., Tryggvason K.
    Genomics 9:1-9(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 924-1685.
  7. "Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome."
    Hostikka S.L., Eddy R.L., Byers M.G., Hoeyhtyae M., Shows T.B., Tryggvason K.
    Proc. Natl. Acad. Sci. U.S.A. 87:1606-1610(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 914-1685.
  8. "Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus."
    Myers J.C., Jones T.A., Pohjolainen E.R., Kadri A.S., Goddard A.D., Sheer D., Solomon E., Pihlajaniemi T.
    Am. J. Hum. Genet. 46:1024-1033(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE OF 1442-1471.
  9. Guo C., van Damme B., Vanrenterghem Y., Devriendt K., Cassiman J.-J., Marynen P.
    Submitted (SEP-1994) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE OF 1-20.
  10. "Differential splicing of COL4A5 mRNA in kidney and white blood cells: a complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain."
    Guo C., van Damme B., van Damme-Lombaerts R., van den Berghe H., Cassiman J.-J., Marynen P.
    Kidney Int. 44:1316-1321(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE OF 1258-1270 (ISOFORM 2).
  11. "Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells."
    Nakazato H., Hattori S., Ushijima T., Matsuura T., Koitabashi Y., Takada T., Yoshioka K., Endo F., Matsuda I.
    Kidney Int. 46:1307-1314(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1589-1598 AND 1677-1685, VARIANTS APSX 1597-TYR--THR-1685 DEL AND 1679-GLQ--THR-1685 DEL.
  12. Cited for: REVIEW ON VARIANTS.
  13. "Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome."
    Zhou J., Barker D.F., Hostikka S.L., Gregory M.C., Atkin C.L., Tryggvason K.
    Genomics 9:10-18(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT APSX SER-1564.
  14. "Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments."
    Knebelmann B., Deschenes G., Gros F., Hors M.-C., Gruenfeld J.-P., Tryggvason K., Gubler M.-C., Antignac C.
    Am. J. Hum. Genet. 51:135-142(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT APSX ARG-325.
  15. "De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome."
    Renieri A., Seri M., Myers J.C., Pihlajaniemi T., Massella L., Rizzoni G.F., de Marchi M.
    Hum. Mol. Genet. 1:127-129(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT APSX GLU-325.
  16. Cited for: VARIANTS APSX THR-1517; SER-1538 AND GLN-1563.
  17. "Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors."
    Zhou J., Mochizuki T., Smeets H., Antignac C., Laurila P., de Paepe A., Tryggvason K., Reeders S.T.
    Science 261:1167-1169(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN DL-ATS.
  18. "Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients."
    Boye E., Flinter F., Zhou J., Tryggvason K., Bobrow M., Harris A.
    Hum. Mutat. 5:197-204(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS APSX GLU-400; VAL-406; VAL-638; ALA-638; ARG-653; ARG-796; ARG-869; ARG-872 AND CYS-1241.
  19. "A mutation causing Alport syndrome with tardive hearing loss is common in the western United States."
    Barker D.F., Pruchno C.J., Jiang X., Atkin C.L., Stone E.M., Denison J.C., Fain P.R., Gregory M.C.
    Am. J. Hum. Genet. 58:1157-1165(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT APSX ARG-1649.
  20. "X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene."
    Renieri A., Bruttini M., Galli L., Zanelli P., Neri T.M., Rossetti S., Turco A.E., Heiskari N., Zhou J., Gusmano R., Massella L., Banfi G., Scolari F., Sessa A., Rizzoni G.F., Tryggvason K., Pignatti P.F., Savi M., Ballabio A., de Marchi M.
    Am. J. Hum. Genet. 58:1192-1204(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS APSX.
  21. "Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome."
    Knebelmann B., Breillat C., Forestier L., Arrondel C., Jacassier D., Giatras I., Drouot L., Deschenes G., Gruenfeld J.-P., Broyer M., Gubler M.-C., Antignac C.
    Am. J. Hum. Genet. 59:1221-1232(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS APSX, VARIANTS ASP-430; SER-444; SER-619; ASN-664 AND MET-1428.
  22. "Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome."
    Tverskaya S., Bobrynina V., Tsalykova F., Ignatova M., Krasnopolskaya X., Evgrafov O.
    Hum. Mutat. 7:149-150(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT APSX ASP-1498.
  23. "Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q."
    Barker D.F., Denison J.C., Atkin C.L., Gregory M.C.
    Hum. Genet. 99:681-684(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT APSX GLN-1677.
  24. "Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome."
    Neri T.M., Zanelli P., de Palma G., Savi M., Rossetti S., Turco A.E., Pignatti G.F., Galli L., Bruttini M., Renieri A., Mingarelli R., Trivelli A., Pinciaroli A.R., Ragaiolo M., Rizzoni G.F., de Marchi M.
    Hum. Mutat. Suppl. 1:S106-S109(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS APSX ARG-174; ARG-177; ARG-325; CYS-1410; TRP-1421; THR-1517 AND ASP-1596.
  25. "High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing."
    Martin P., Heiskari N., Zhou J., Leinonen A., Tumelius T., Hertz J.M., Barker D.F., Gregory M.C., Atkin C.L., Styrkarsdottir U., Neumann H., Springate J., Shows T.B., Pettersson E., Tryggvason K.
    J. Am. Soc. Nephrol. 9:2291-2301(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS APSX VAL-420; 456-PRO--PRO-458 DEL; ASP-573; ASP-624; ASP-635; 802-GLY--PRO-807 DEL; ARG-869; CYS-941; SER-1030; SER-1066; ASP-1143; ARG-1196; GLU-1261; SER-1357 AND ARG-1649.
  26. "Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing."
    Inoue Y., Nishio H., Shirakawa T., Nakanishi K., Nakamura H., Sumino K., Nishiyama K., Iijima K., Yoshikawa N.
    Am. J. Kidney Dis. 34:854-862(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS APSX GLU-579; LYS-633; ASP-947; VAL-953; ARG-1107; ARG-1158; SER-1170 AND TRP-1678, VARIANTS SER-444 AND ALA-739.
  27. Cited for: VARIANT APSX ARG-822.
  28. "Detection of mutations in COL4A5 in patients with Alport syndrome."
    Plant K.E., Green P.M., Vetrie D., Flinter F.A.
    Hum. Mutat. 13:124-132(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS APSX, VARIANTS.
  29. "Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene."
    Blasi M.A., Rinaldi R., Renieri A., Petrucci R., De Bernardo C., Bruttini M., Grammatico P.
    Am. J. Ophthalmol. 130:130-131(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT APSX CYS-177.
  30. Cited for: VARIANTS APSX ARG-216; ARG-415; GLU-1045; ASP-1086; SER-1167 AND 864-SER--GLY-875 DEL.
  31. "Mutational analysis of COL4A5 gene in Korean Alport syndrome."
    Cheong H.I., Park H.W., Ha I.S., Choi Y.
    Pediatr. Nephrol. 14:117-121(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS APSX ARG-319; SER-739; VAL-902; GLU-911; ASP-1229 AND HIS-1511.