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UniProtKB - Q14031 (CO4A6_HUMAN)

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Protein

Collagen alpha-6(IV) chain

Gene

COL4A6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

ReactomeiR-HSA-1442490 Collagen degradation
R-HSA-1474244 Extracellular matrix organization
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-216083 Integrin cell surface interactions
R-HSA-2214320 Anchoring fibril formation
R-HSA-2243919 Crosslinking of collagen fibrils
R-HSA-3000157 Laminin interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-8948216 Collagen chain trimerization
SIGNORiQ14031

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-6(IV) chain
Gene namesi
Name:COL4A6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000197565.15
HGNCiHGNC:2208 COL4A6
MIMi303631 gene
neXtProtiNX_Q14031

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Basement membrane, Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

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).
Deafness, X-linked, 6 (DFNX6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-syndromic form of sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:300914
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070936591G → S in DFNX6. 1 PublicationCorresponds to variant dbSNP:rs779748859EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi1288
MalaCardsiCOL4A6
MIMi300914 phenotype
OpenTargetsiENSG00000197565
Orphaneti1018 X-linked diffuse leiomyomatosis - Alport syndrome
90625 X-linked non-syndromic sensorineural deafness type DFN
PharmGKBiPA26723

Chemistry databases

ChEMBLiCHEMBL2364188

Polymorphism and mutation databases

BioMutaiCOL4A6
DMDMi116241307

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000000585323 – 1691Collagen alpha-6(IV) chainAdd BLAST1669

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi127N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1482 ↔ 1571Or C-1482 with C-1568PROSITE-ProRule annotation
Disulfide bondi1515 ↔ 1568Or C-1515 with C-1571PROSITE-ProRule annotation
Disulfide bondi1527 ↔ 1533PROSITE-ProRule annotation
Disulfide bondi1590 ↔ 1687Or C-1590 with C-1684PROSITE-ProRule annotation
Disulfide bondi1624 ↔ 1684Or C-1624 with C-1687PROSITE-ProRule annotation
Disulfide bondi1636 ↔ 1643PROSITE-ProRule annotation

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

MaxQBiQ14031
PaxDbiQ14031
PeptideAtlasiQ14031
PRIDEiQ14031
ProteomicsDBi59800
59801 [Q14031-2]

PTM databases

iPTMnetiQ14031
PhosphoSitePlusiQ14031

Miscellaneous databases

PMAP-CutDBiQ5JYH8

Expressioni

Gene expression databases

BgeeiENSG00000197565
ExpressionAtlasiQ14031 baseline and differential
GenevisibleiQ14031 HS

Organism-specific databases

HPAiHPA065393

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

BioGridi107685, 11 interactors
ComplexPortaliCPX-1724 Collagen type IV trimer variant 2
IntActiQ14031, 2 interactors
STRINGi9606.ENSP00000361290

Structurei

3D structure databases

ProteinModelPortaliQ14031
SMRiQ14031
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1467 – 1691Collagen IV NC1PROSITE-ProRule annotationAdd BLAST225

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni23 – 467S domainAdd BLAST24
Regioni47 – 1463Triple-helical regionAdd BLAST1417

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi515 – 517Cell attachment siteSequence analysis3
Motifi560 – 562Cell attachment siteSequence analysis3
Motifi986 – 988Cell attachment siteSequence analysis3

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

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG410YAVF LUCA
GeneTreeiENSGT00900000140804
HOVERGENiHBG004933
InParanoidiQ14031
KOiK06237
PhylomeDBiQ14031
TreeFamiTF344135

Family and domain databases

Gene3Di2.170.240.10, 1 hit
InterProiView protein in InterPro
IPR008160 Collagen
IPR001442 Collagen_IV_NC
IPR036954 Collagen_IV_NC_sf
IPR016187 CTDL_fold
PfamiView protein in Pfam
PF01413 C4, 2 hits
PF01391 Collagen, 19 hits
SMARTiView protein in SMART
SM00111 C4, 2 hits
SUPFAMiSSF56436 SSF56436, 2 hits
PROSITEiView protein in PROSITE
PS51403 NC1_IV, 1 hit

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. AlignAdd to basket

Isoform A (identifier: Q14031-1) [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

        10         20         30         40         50
MLINKLWLLL VTLCLTEELA AAGEKSYGKP CGGQDCSGSC QCFPEKGARG 
        60         70         80         90        100
RPGPIGIQGP TGPQGFTGST GLSGLKGERG FPGLLGPYGP KGDKGPMGVP 
       110        120        130        140        150
GFLGINGIPG HPGQPGPRGP PGLDGCNGTQ GAVGFPGPDG YPGLLGPPGL 
       160        170        180        190        200
PGQKGSKGDP VLAPGSFKGM KGDPGLPGLD GITGPQGAPG FPGAVGPAGP 
       210        220        230        240        250
PGLQGPPGPP GPLGPDGNMG LGFQGEKGVK GDVGLPGPAG PPPSTGELEF 
       260        270        280        290        300
MGFPKGKKGS KGEPGPKGFP GISGPPGFPG LGTTGEKGEK GEKGIPGLPG 
       310        320        330        340        350
PRGPMGSEGV QGPPGQQGKK GTLGFPGLNG FQGIEGQKGD IGLPGPDVFI 
       360        370        380        390        400
DIDGAVISGN PGDPGVPGLP GLKGDEGIQG LRGPSGVPGL PALSGVPGAL 
       410        420        430        440        450
GPQGFPGLKG DQGNPGRTTI GAAGLPGRDG LPGPPGPPGP PSPEFETETL 
       460        470        480        490        500
HNKESGFPGL RGEQGPKGNL GLKGIKGDSG FCACDGGVPN TGPPGEPGPP 
       510        520        530        540        550
GPWGLIGLPG LKGARGDRGS GGAQGPAGAP GLVGPLGPSG PKGKKGEPIL 
       560        570        580        590        600
STIQGMPGDR GDSGSQGFRG VIGEPGKDGV PGLPGLPGLP GDGGQGFPGE 
       610        620        630        640        650
KGLPGLPGEK GHPGPPGLPG NGLPGLPGPR GLPGDKGKDG LPGQQGLPGS 
       660        670        680        690        700
KGITLPCIIP GSYGPSGFPG TPGFPGPKGS RGLPGTPGQP GSSGSKGEPG 
       710        720        730        740        750
SPGLVHLPEL PGFPGPRGEK GLPGFPGLPG KDGLPGMIGS PGLPGSKGAT 
       760        770        780        790        800
GDIFGAENGA PGEQGLQGLT GHKGFLGDSG LPGLKGVHGK PGLLGPKGER 
       810        820        830        840        850
GSPGTPGQVG QPGTPGSSGP YGIKGKSGLP GAPGFPGISG HPGKKGTRGK 
       860        870        880        890        900
KGPPGSIVKK GLPGLKGLPG NPGLVGLKGS PGSPGVAGLP ALSGPKGEKG 
       910        920        930        940        950
SVGFVGFPGI PGLPGIPGTR GLKGIPGSTG KMGPSGRAGT PGEKGDRGNP 
       960        970        980        990       1000
GPVGIPSPRR PMSNLWLKGD KGSQGSAGSN GFPGPRGDKG EAGRPGPPGL 
      1010       1020       1030       1040       1050
PGAPGLPGII KGVSGKPGPP GFMGIRGLPG LKGSSGITGF PGMPGESGSQ 
      1060       1070       1080       1090       1100
GIRGSPGLPG ASGLPGLKGD NGQTVEISGS PGPKGQPGES GFKGTKGRDG 
      1110       1120       1130       1140       1150
LIGNIGFPGN KGEDGKVGVS GDVGLPGAPG FPGVAGMRGE PGLPGSSGHQ 
      1160       1170       1180       1190       1200
GAIGPLGSPG LIGPKGFPGF PGLHGLNGLP GTKGTHGTPG PSITGVPGPA 
      1210       1220       1230       1240       1250
GLPGPKGEKG YPGIGIGAPG KPGLRGQKGD RGFPGLQGPA GLPGAPGISL 
      1260       1270       1280       1290       1300
PSLIAGQPGD PGRPGLDGER GRPGPAGPPG PPGPSSNQGD TGDPGFPGIP 
      1310       1320       1330       1340       1350
GPKGPKGDQG IPGFSGLPGE LGLKGMRGEP GFMGTPGKVG PPGDPGFPGM 
      1360       1370       1380       1390       1400
KGKAGPRGSS GLQGDPGQTP TAEAVQVPPG PLGLPGIDGI PGLTGDPGAQ 
      1410       1420       1430       1440       1450
GPVGLQGSKG LPGIPGKDGP SGLPGPPGAL GDPGLPGLQG PPGFEGAPGQ 
      1460       1470       1480       1490       1500
QGPFGMPGMP GQSMRVGYTL VKHSQSEQVP PCPIGMSQLW VGYSLLFVEG 
      1510       1520       1530       1540       1550
QEKAHNQDLG FAGSCLPRFS TMPFIYCNIN EVCHYARRND KSYWLSTTAP 
      1560       1570       1580       1590       1600
IPMMPVSQTQ IPQYISRCSV CEAPSQAIAV HSQDITIPQC PLGWRSLWIG 
      1610       1620       1630       1640       1650
YSFLMHTAAG AEGGGQSLVS PGSCLEDFRA TPFIECSGAR GTCHYFANKY 
      1660       1670       1680       1690 
SFWLTTVEER QQFGELPVSE TLKAGQLHTR VSRCQVCMKS L
Length:1,691
Mass (Da):163,807
Last modified:October 17, 2006 - v3
Checksum:i9313294D4CE63067
GO
Isoform B (identifier: Q14031-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-5: MLINK → MHPG

Show »
Length:1,690
Mass (Da):163,629
Checksum:iA311225C5FF212B9
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti170M → I in AAA19569 (PubMed:8175748).Curated1
Sequence conflicti170M → I in AAA16338 (Ref. 5) Curated1
Sequence conflicti272 – 273IS → LR in AAB19038 (PubMed:8661006).Curated2
Sequence conflicti272 – 273IS → LR in AAB19039 (PubMed:8661006).Curated2
Sequence conflicti366V → D in AAB19038 (PubMed:8661006).Curated1
Sequence conflicti366V → D in AAB19039 (PubMed:8661006).Curated1
Sequence conflicti518R → Q in AAB19038 (PubMed:8661006).Curated1
Sequence conflicti518R → Q in AAB19039 (PubMed:8661006).Curated1
Sequence conflicti917P → S in BAA04809 (PubMed:8125972).Curated1
Sequence conflicti917P → S in AAB19038 (PubMed:8661006).Curated1
Sequence conflicti917P → S in AAB19039 (PubMed:8661006).Curated1
Sequence conflicti1302 – 1313Missing in BAA04809 (PubMed:8125972).CuratedAdd BLAST12
Sequence conflicti1356P → A in BAA04809 (PubMed:8125972).Curated1
Sequence conflicti1365D → H in AAB19038 (PubMed:8661006).Curated1
Sequence conflicti1365D → H in AAB19039 (PubMed:8661006).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015216455S → A1 PublicationCorresponds to variant dbSNP:rs1042065EnsemblClinVar.1
Natural variantiVAR_059242455S → P. Corresponds to variant dbSNP:rs1042065EnsemblClinVar.1
Natural variantiVAR_070936591G → S in DFNX6. 1 PublicationCorresponds to variant dbSNP:rs779748859EnsemblClinVar.1
Natural variantiVAR_0152171110N → K1 PublicationCorresponds to variant dbSNP:rs1042067Ensembl.1
Natural variantiVAR_0329721126P → S. Corresponds to variant dbSNP:rs35179844EnsemblClinVar.1
Natural variantiVAR_0357481130G → E in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0329731162I → V. Corresponds to variant dbSNP:rs34466065EnsemblClinVar.1
Natural variantiVAR_0329741362L → P. Corresponds to variant dbSNP:rs35363062EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0011741 – 5MLINK → MHPG in isoform B. 1 Publication5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D21337 mRNA Translation: BAA04809.1
U04845 mRNA Translation: AAA19569.2
U47004
, U46959, U46961, U46962, U46963, U46964, U46965, U46966, U46967, U46968, U46969, U46970, U46971, U46972, U46973, U46974, U46975, U46976, U46977, U46978, U46979, U46980, U46981, U46982, U46983, U46984, U46985, U46986, U46987, U46988, U46989, U46990, U46991, U46992, U46993, U46994, U46995, U46996, U46997, U46998, U46999, U47000, U47001, U47002, U47003 Genomic DNA Translation: AAB19038.1
U47004
, U46960, U46961, U46962, U46963, U46964, U46965, U46966, U46967, U46968, U46969, U46970, U46971, U46972, U46973, U46974, U46975, U46976, U46977, U46978, U46979, U46980, U46981, U46982, U46983, U46984, U46985, U46986, U46987, U46988, U46989, U46990, U46991, U46992, U46993, U46994, U46995, U46996, U46997, U46998, U46999, U47000, U47001, U47002, U47003 Genomic DNA Translation: AAB19039.1
AL136080 Genomic DNA No translation available.
AL034369 Genomic DNA No translation available.
AL109943 Genomic DNA No translation available.
AL031177 Genomic DNA No translation available.
CH471120 Genomic DNA Translation: EAX02688.1
L22763 mRNA Translation: AAA16338.1
CCDSiCCDS14541.1 [Q14031-1]
CCDS14542.1 [Q14031-2]
PIRiA54122 CGHU6B
RefSeqiNP_001274689.1, NM_001287760.1
NP_001838.2, NM_001847.3 [Q14031-1]
NP_378667.1, NM_033641.3 [Q14031-2]
UniGeneiHs.145586

Genome annotation databases

EnsembliENST00000334504; ENSP00000334733; ENSG00000197565 [Q14031-2]
ENST00000372216; ENSP00000361290; ENSG00000197565 [Q14031-1]
GeneIDi1288
KEGGihsa:1288
UCSCiuc004env.5 human [Q14031-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCO4A6_HUMAN
AccessioniPrimary (citable) accession number: Q14031
Secondary accession number(s): Q12823
, Q14053, Q5JYH6, Q5JYH8, Q9NQM5, Q9NTX3, Q9UJ76, Q9UMG6, Q9Y4L4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 17, 2006
Last modified: June 20, 2018
This is version 187 of the entry and version 3 of the sequence. See 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

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