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P29400

- CO4A5_HUMAN

UniProt

P29400 - CO4A5_HUMAN

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
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    • History
      Entry version 173 (01 Oct 2014)
      Sequence version 2 (01 Feb 1994)
      Previous versions | rss
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    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

    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

    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.
    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. 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

    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.
    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.
    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.

    « Hide

    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

    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.
    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. 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:
    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

    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: October 1, 2014
    This is version 173 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