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Protein

Collagen alpha-1(XX) chain

Gene

COL20A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Probable collagen protein.

Enzyme and pathway databases

ReactomeiR-HSA-1650814. Collagen biosynthesis and modifying enzymes.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-1(XX) chain
Gene namesi
Name:COL20A1
Synonyms:KIAA1510
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:14670. COL20A1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672086.

Polymorphism and mutation databases

BioMutaiCOL20A1.
DMDMi292495087.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222Sequence analysisAdd
BLAST
Chaini23 – 12841262Collagen alpha-1(XX) chainPRO_0000013986Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi607 – 6071N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9P218.
PRIDEiQ9P218.

PTM databases

iPTMnetiQ9P218.
PhosphoSiteiQ9P218.

Expressioni

Tissue specificityi

High expression in heart, lung, liver, skeletal muscle, kidney, pancreas, spleen, testis, ovary, subthalamic nucleus and fetal liver. Weak expression in other tissues tested.

Gene expression databases

BgeeiQ9P218.
CleanExiHS_COL20A1.
ExpressionAtlasiQ9P218. baseline and differential.
GenevisibleiQ9P218. HS.

Organism-specific databases

HPAiHPA051962.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
FAM9BQ8IZU03EBI-10318410,EBI-10175124
RELQ048643EBI-10318410,EBI-307352
TEX11Q8IYF33EBI-10318410,EBI-742397

Protein-protein interaction databases

BioGridi121679. 10 interactions.
IntActiQ9P218. 3 interactions.
STRINGi9606.ENSP00000351767.

Structurei

Secondary structure

1
1284
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi474 – 4785Combined sources
Beta strandi480 – 4867Combined sources
Beta strandi494 – 50512Combined sources
Beta strandi512 – 52514Combined sources
Beta strandi532 – 5398Combined sources
Beta strandi541 – 5444Combined sources
Beta strandi548 – 5514Combined sources
Beta strandi563 – 5675Combined sources
Beta strandi573 – 5786Combined sources
Beta strandi585 – 5939Combined sources
Turni594 – 5963Combined sources
Beta strandi602 – 6054Combined sources
Beta strandi610 – 6134Combined sources
Beta strandi621 – 6299Combined sources
Beta strandi635 – 6439Combined sources
Beta strandi745 – 7539Combined sources
Beta strandi756 – 7627Combined sources
Beta strandi769 – 7713Combined sources
Beta strandi793 – 7986Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2DKMNMR-A466-556[»]
2EE3NMR-A557-651[»]
2EKJNMR-A741-832[»]
ProteinModelPortaliQ9P218.
SMRiQ9P218. Positions 463-647, 746-833.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9P218.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini28 – 11992Fibronectin type-III 1PROSITE-ProRule annotationAdd
BLAST
Domaini179 – 354176VWFAPROSITE-ProRule annotationAdd
BLAST
Domaini379 – 46890Fibronectin type-III 2PROSITE-ProRule annotationAdd
BLAST
Domaini469 – 55991Fibronectin type-III 3PROSITE-ProRule annotationAdd
BLAST
Domaini560 – 64788Fibronectin type-III 4PROSITE-ProRule annotationAdd
BLAST
Domaini649 – 73890Fibronectin type-III 5PROSITE-ProRule annotationAdd
BLAST
Domaini743 – 83391Fibronectin type-III 6PROSITE-ProRule annotationAdd
BLAST
Domaini842 – 1037196Laminin G-likeAdd
BLAST
Domaini1071 – 112757Collagen-like 1Add
BLAST
Domaini1133 – 119058Collagen-like 2Add
BLAST

Sequence similaritiesi

Contains 2 collagen-like domains.Curated
Contains 6 fibronectin type-III domains.PROSITE-ProRule annotation
Contains 1 laminin G-like domain.Curated
Contains 1 VWFA domain.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00760000119000.
HOVERGENiHBG107744.
InParanoidiQ9P218.
OMAiVRCSPAS.
OrthoDBiEOG7QG435.
PhylomeDBiQ9P218.
TreeFamiTF329914.

Family and domain databases

Gene3Di2.60.40.10. 6 hits.
3.40.50.410. 1 hit.
InterProiIPR008160. Collagen.
IPR013320. ConA-like_dom.
IPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR001791. Laminin_G.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 2 hits.
PF00041. fn3. 6 hits.
PF00092. VWA. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 6 hits.
SM00210. TSPN. 1 hit.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 4 hits.
SSF49899. SSF49899. 1 hit.
SSF53300. SSF53300. 1 hit.
PROSITEiPS50853. FN3. 6 hits.
PS50234. VWFA. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9P218-1) [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
MSSGDPAHLG LCLWLWLGAT LGREQVQASG LLRLAVLPED RLQMKWRESE
60 70 80 90 100
GSGLGYLVQV KPMAGDSEQE VILTTKTPKA TVGGLSPSKG YTLQIFELTG
110 120 130 140 150
SGRFLLARRE FVIEDLKSSS LDRSSQRPLG SGAPEPTPSH TGSPDPEQAS
160 170 180 190 200
EPQVAFTPSQ DPRTPAGPQF RCLPPVPADM VFLVDGSWSI GHSHFQQVKD
210 220 230 240 250
FLASVIAPFE IGPDKVQVGL TQYSGDAQTE WDLNSLSTKE QVLAAVRRLR
260 270 280 290 300
YKGGNTFTGL ALTHVLGQNL QPAAGLRPEA AKVVILVTDG KSQDDVHTAA
310 320 330 340 350
RVLKDLGVNV FAVGVKNADE AELRLLASPP RDITVHSVLD FLQLGALAGL
360 370 380 390 400
LSRLICQRLQ GGSPRQGPAA APALDTLPAP TSLVLSQVTS SSIRLSWTPA
410 420 430 440 450
PRHPLKYLIV WRASRGGTPR EVVVEGPAAS TELHNLASRT EYLVSVFPIY
460 470 480 490 500
EGGVGEGLRG LVTTAPLPPP RALTLAAVTP RTVHLTWQPS AGATHYLVRC
510 520 530 540 550
SPASPKGEEE EREVQVGRPE VLLDGLEPGR DYEVSVQSLR GPEGSEARGI
560 570 580 590 600
RARTPTLAPP RHLGFSDVSH DAARVFWEGA PRPVRLVRVT YVSSEGGHSG
610 620 630 640 650
QTEAPGNATS ATLGPLSSST TYTVRVTCLY PGGGSSTLTG RVTTKKAPSP
660 670 680 690 700
SQLSMTELPG DAVQLAWVAA APSGVLVYQI TWTPLGEGKA HEISVPGNLG
710 720 730 740 750
TAVLPGLGRH TEYDVTILAY YRDGARSDPV SLRYTPSTVS RSPPSNLALA
760 770 780 790 800
SETPDSLQVS WTPPLGRVLH YWLTYAPASG LGPEKSVSVP GARSHVTLPD
810 820 830 840 850
LQAATKYRVL VSAIYAAGRS EAVSATGQTA CPALRPDGSL PGFDLMVAFS
860 870 880 890 900
LVEKAYASIR GVAMEPSAFG GTPTFTLFKD AQLTRRVSDV YPAPLPPEHT
910 920 930 940 950
IVFLVRLLPE TPREAFALWQ MTAEDFQPLL GVLLDAGKKS LTYFHRDPRA
960 970 980 990 1000
ALQEATFDPQ EVRKIFFGSF HKVHVAVGRS KVRLYVDCRK VAERPLGEMG
1010 1020 1030 1040 1050
SPPAAGFVTL GRLAKARGPR SSSAAFQLQM LQIVCSDTWA DEDRCCELPA
1060 1070 1080 1090 1100
SRDGETCPAF VSACSCSSET PGPPGPQGPP GLPGRNGTPG EQGFPGPRGP
1110 1120 1130 1140 1150
PGVKGEKGDH GLPGLQGHPG HQGIPGRVGL QGPKGMRGLE GTAGLPGPPG
1160 1170 1180 1190 1200
PRGFQGMAGA RGTSGERGPP GTVGPTGLPG PKGERGEKGE PQSLATLYQL
1210 1220 1230 1240 1250
VSQASHVSKF DSFHENTRPP MPILEQKLEP GTEPLGSPGT RSKALVPGEW
1260 1270 1280
GRGGRHLEGR GEPGAVGQMG SPGQQGASTQ GLWE
Length:1,284
Mass (Da):135,830
Last modified:March 23, 2010 - v4
Checksum:iE84D522A932D89C6
GO
Isoform 2 (identifier: Q9P218-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     165-166: PA → PGGSEWRET
     1204-1205: AS → ACESAIQT

Show »
Length:1,297
Mass (Da):137,308
Checksum:i11FE854E7E368694
GO
Isoform 3 (identifier: Q9P218-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1098-1098: R → RGEPGPPGQMGPEGPGGQQGSPGTQGRAVQGPV

Note: No experimental confirmation available.
Show »
Length:1,316
Mass (Da):138,781
Checksum:i6D56DD83AE9EF73B
GO

Sequence cautioni

The sequence AAH19637.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti13 – 131L → V in AAH43183 (PubMed:15489334).Curated
Sequence conflicti78 – 781P → H in AAH43183 (PubMed:15489334).Curated
Sequence conflicti612 – 6121T → M in BAA96034 (PubMed:10819331).Curated
Sequence conflicti924 – 9241E → K in AAH43183 (PubMed:15489334).Curated
Sequence conflicti1230 – 12301P → Q in AAH43183 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti134 – 1341P → L.
Corresponds to variant rs753686 [ dbSNP | Ensembl ].
VAR_055671

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei165 – 1662PA → PGGSEWRET in isoform 2. 1 PublicationVSP_038876
Alternative sequencei1098 – 10981R → RGEPGPPGQMGPEGPGGQQG SPGTQGRAVQGPV in isoform 3. 1 PublicationVSP_038877
Alternative sequencei1204 – 12052AS → ACESAIQT in isoform 2. 1 PublicationVSP_038878

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL121827 Genomic DNA. No translation available.
BC013658 mRNA. Translation: AAH13658.1.
BC019637 mRNA. Translation: AAH19637.1. Different initiation.
BC043183 mRNA. Translation: AAH43183.1.
AB040943 mRNA. Translation: BAA96034.1.
AI272270 mRNA. No translation available.
CCDSiCCDS46628.1. [Q9P218-1]
RefSeqiNP_065933.2. NM_020882.2. [Q9P218-1]
XP_011527242.1. XM_011528940.1. [Q9P218-2]
UniGeneiHs.271285.

Genome annotation databases

EnsembliENST00000358894; ENSP00000351767; ENSG00000101203. [Q9P218-1]
ENST00000422202; ENSP00000414753; ENSG00000101203. [Q9P218-2]
GeneIDi57642.
KEGGihsa:57642.
UCSCiuc011aau.2. human. [Q9P218-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL121827 Genomic DNA. No translation available.
BC013658 mRNA. Translation: AAH13658.1.
BC019637 mRNA. Translation: AAH19637.1. Different initiation.
BC043183 mRNA. Translation: AAH43183.1.
AB040943 mRNA. Translation: BAA96034.1.
AI272270 mRNA. No translation available.
CCDSiCCDS46628.1. [Q9P218-1]
RefSeqiNP_065933.2. NM_020882.2. [Q9P218-1]
XP_011527242.1. XM_011528940.1. [Q9P218-2]
UniGeneiHs.271285.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2DKMNMR-A466-556[»]
2EE3NMR-A557-651[»]
2EKJNMR-A741-832[»]
ProteinModelPortaliQ9P218.
SMRiQ9P218. Positions 463-647, 746-833.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121679. 10 interactions.
IntActiQ9P218. 3 interactions.
STRINGi9606.ENSP00000351767.

PTM databases

iPTMnetiQ9P218.
PhosphoSiteiQ9P218.

Polymorphism and mutation databases

BioMutaiCOL20A1.
DMDMi292495087.

Proteomic databases

PaxDbiQ9P218.
PRIDEiQ9P218.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358894; ENSP00000351767; ENSG00000101203. [Q9P218-1]
ENST00000422202; ENSP00000414753; ENSG00000101203. [Q9P218-2]
GeneIDi57642.
KEGGihsa:57642.
UCSCiuc011aau.2. human. [Q9P218-1]

Organism-specific databases

CTDi57642.
GeneCardsiCOL20A1.
H-InvDBHIX0015998.
HGNCiHGNC:14670. COL20A1.
HPAiHPA051962.
neXtProtiNX_Q9P218.
PharmGKBiPA142672086.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00760000119000.
HOVERGENiHBG107744.
InParanoidiQ9P218.
OMAiVRCSPAS.
OrthoDBiEOG7QG435.
PhylomeDBiQ9P218.
TreeFamiTF329914.

Enzyme and pathway databases

ReactomeiR-HSA-1650814. Collagen biosynthesis and modifying enzymes.

Miscellaneous databases

EvolutionaryTraceiQ9P218.
GenomeRNAii57642.
PROiQ9P218.

Gene expression databases

BgeeiQ9P218.
CleanExiHS_COL20A1.
ExpressionAtlasiQ9P218. baseline and differential.
GenevisibleiQ9P218. HS.

Family and domain databases

Gene3Di2.60.40.10. 6 hits.
3.40.50.410. 1 hit.
InterProiIPR008160. Collagen.
IPR013320. ConA-like_dom.
IPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR001791. Laminin_G.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 2 hits.
PF00041. fn3. 6 hits.
PF00092. VWA. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 6 hits.
SM00210. TSPN. 1 hit.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 4 hits.
SSF49899. SSF49899. 1 hit.
SSF53300. SSF53300. 1 hit.
PROSITEiPS50853. FN3. 6 hits.
PS50234. VWFA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1013-1284 (ISOFORMS 2/3).
    Tissue: Brain.
  3. "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
    DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 158-1284 (ISOFORM 2).
    Tissue: Brain.
  4. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1053-1160 (ISOFORM 3).
  5. "Solution structures of the FN3 domains of human collagen alpha-1(xx) chain."
    RIKEN structural genomics initiative (RSGI)
    Submitted (OCT-2006) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 466-554.

Entry informationi

Entry nameiCOKA1_HUMAN
AccessioniPrimary (citable) accession number: Q9P218
Secondary accession number(s): Q4VXQ4
, Q6PI59, Q8WUT2, Q96CY9, Q9BQU6, Q9BQU7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: March 23, 2010
Last modified: June 8, 2016
This is version 151 of the entry and version 4 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.