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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.
Note: The disease is caused by mutations affecting the gene represented in this entry.21 Publications
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.
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.
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.
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.
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).2 Publications

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 – 2626 Reviewed prediction
Add
BLAST
Chaini27 – 16851659Collagen alpha-5(IV) chain
PRO_0000005852Add
BLAST

Amino acid modifications

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

ArrayExpressiP29400.
BgeeiP29400.
CleanExiHS_COL4A5.
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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1461 – 1685225Collagen IV NC1
Add
BLAST

Region

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

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiNOG12793.
HOGENOMiHOG000085652.
HOVERGENiHBG004933.
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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MKLRGVSLAA GLFLLALSLW GQPAEAAACY GCSPGSKCDC SGIKGEKGER     50
GFPGLEGHPG LPGFPGPEGP PGPRGQKGDD GIPGPPGPKG IRGPPGLPGF 100
PGTPGLPGMP GHDGAPGPQG IPGCNGTKGE RGFPGSPGFP GLQGPPGPPG 150
IPGMKGEPGS IIMSSLPGPK GNPGYPGPPG IQGLPGPTGI PGPIGPPGPP 200
GLMGPPGPPG LPGPKGNMGL NFQGPKGEKG EQGLQGPPGP PGQISEQKRP 250
IDVEFQKGDQ GLPGDRGPPG PPGIRGPPGP PGGEKGEKGE QGEPGKRGKP 300
GKDGENGQPG IPGLPGDPGY PGEPGRDGEK GQKGDTGPPG PPGLVIPRPG 350
TGITIGEKGN IGLPGLPGEK GERGFPGIQG PPGLPGPPGA AVMGPPGPPG 400
FPGERGQKGD EGPPGISIPG PPGLDGQPGA PGLPGPPGPA GPHIPPSDEI 450
CEPGPPGPPG SPGDKGLQGE QGVKGDKGDT CFNCIGTGIS GPPGQPGLPG 500
LPGPPGSLGF PGQKGEKGQA GATGPKGLPG IPGAPGAPGF PGSKGEPGDI 550
LTFPGMKGDK GELGSPGAPG LPGLPGTPGQ DGLPGLPGPK GEPGGITFKG 600
ERGPPGNPGL PGLPGNIGPM GPPGFGPPGP VGEKGIQGVA GNPGQPGIPG 650
PKGDPGQTIT QPGKPGLPGN PGRDGDVGLP GDPGLPGQPG LPGIPGSKGE 700
PGIPGIGLPG PPGPKGFPGI PGPPGAPGTP GRIGLEGPPG PPGFPGPKGE 750
PGFALPGPPG PPGLPGFKGA LGPKGDRGFP GPPGPPGRTG LDGLPGPKGD 800
VGPNGQPGPM GPPGLPGIGV QGPPGPPGIP GPIGQPGLHG IPGEKGDPGP 850
PGLDVPGPPG ERGSPGIPGA PGPIGPPGSP GLPGKAGASG FPGTKGEMGM 900
MGPPGPPGPL GIPGRSGVPG LKGDDGLQGQ PGLPGPTGEK GSKGEPGLPG 950
PPGPMDPNLL GSKGEKGEPG LPGIPGVSGP KGYQGLPGDP GQPGLSGQPG 1000
LPGPPGPKGN PGLPGQPGLI GPPGLKGTIG DMGFPGPQGV EGPPGPSGVP 1050
GQPGSPGLPG QKGDKGDPGI SSIGLPGLPG PKGEPGLPGY PGNPGIKGSV 1100
GDPGLPGLPG TPGAKGQPGL PGFPGTPGPP GPKGISGPPG NPGLPGEPGP 1150
VGGGGHPGQP GPPGEKGKPG QDGIPGPAGQ KGEPGQPGFG NPGPPGLPGL 1200
SGQKGDGGLP GIPGNPGLPG PKGEPGFHGF PGVQGPPGPP GSPGPALEGP 1250
KGNPGPQGPP GRPGLPGPEG PPGLPGNGGI KGEKGNPGQP GLPGLPGLKG 1300
DQGPPGLQGN PGRPGLNGMK GDPGLPGVPG FPGMKGPSGV PGSAGPEGEP 1350
GLIGPPGPPG LPGPSGQSII IKGDAGPPGI PGQPGLKGLP GPQGPQGLPG 1400
PTGPPGDPGR NGLPGFDGAG GRKGDPGLPG QPGTRGLDGP PGPDGLQGPP 1450
GPPGTSSVAH GFLITRHSQT TDAPQCPQGT LQVYEGFSLL YVQGNKRAHG 1500
QDLGTAGSCL RRFSTMPFMF CNINNVCNFA SRNDYSYWLS TPEPMPMSMQ 1550
PLKGQSIQPF ISRCAVCEAP AVVIAVHSQT IQIPHCPQGW DSLWIGYSFM 1600
MHTSAGAEGS GQALASPGSC LEEFRSAPFI ECHGRGTCNY YANSYSFWLA 1650
TVDVSDMFSK PQSETLKAGD LRTRISRCQV CMKRT 1685
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

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.
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.
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.
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.
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.
VSP_001173

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti440 – 4412AG → GS in AAA99480. 1 Publication
Sequence conflicti625 – 6284FGPP → LALQ in AAA99480. 1 Publication
Sequence conflicti667 – 6682LP → FR in AAA99480. 1 Publication
Sequence conflicti888 – 8881A → R in AAA99480. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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.
HOGENOMi HOG000085652.
HOVERGENi HBG004933.
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

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

Gene expression databases

ArrayExpressi P29400.
Bgeei P29400.
CleanExi HS_COL4A5.
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 ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
  32. "Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP."
    Barker D.F., Denison J.C., Atkin C.L., Gregory M.C.
    Am. J. Med. Genet. 98:148-160(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS APSX ARG-192; ARG-292; ASP-295; ARG-325; ARG-558; VAL-603; ASP-624; ASP-629; GLU-722; VAL-898; ALA-1006; VAL-1006; ASP-1244; ARG-1649 AND PRO-1677, VARIANT SER-444.
  33. Cited for: INVOLVEMENT IN DL-ATS.

Entry informationi

Entry nameiCO4A5_HUMAN
AccessioniPrimary (citable) accession number: P29400
Secondary accession number(s): Q16006
, Q16126, Q6LD84, Q7Z700, Q9NUB7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: February 1, 1994
Last modified: September 3, 2014
This is version 172 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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