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Protein

Collagen alpha-1(IX) chain

Gene

COL9A1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Structural component of hyaline cartilage and vitreous of the eye.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi213Zinc1
Metal bindingi215Zinc1
Metal bindingi253Zinc1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • extracellular matrix structural constituent Source: GO_Central
  • extracellular matrix structural constituent conferring tensile strength Source: BHF-UCL
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

  • animal organ morphogenesis Source: ProtInc
  • extracellular matrix organization Source: GO_Central

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1442490 Collagen degradation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-186797 Signaling by PDGF
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-216083 Integrin cell surface interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-419037 NCAM1 interactions
R-HSA-8948216 Collagen chain trimerization

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Collagen alpha-1(IX) chain
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:COL9A1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000112280.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2217 COL9A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
120210 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P20849

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Multiple epiphyseal dysplasia 6 (EDM6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal.
See also OMIM:614135
Stickler syndrome 4 (STL4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable.
See also OMIM:614134

Keywords - Diseasei

Deafness, Stickler syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
1297

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
COL9A1

MalaCards human disease database

More...
MalaCardsi
COL9A1
MIMi614134 phenotype
614135 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000112280

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
250984 Autosomal recessive Stickler syndrome
166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26733

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COL9A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439373

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 23Add BLAST23
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000576524 – 921Collagen alpha-1(IX) chainAdd BLAST898

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi44 ↔ 2421 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi171N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi198 ↔ 2521 Publication
Disulfide bondi411Interchain1 Publication
Disulfide bondi415Interchain1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links.
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P20849

PeptideAtlas

More...
PeptideAtlasi
P20849

PRoteomics IDEntifications database

More...
PRIDEi
P20849

ProteomicsDB human proteome resource

More...
ProteomicsDBi
53816
53817 [P20849-2]
53818 [P20849-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P20849

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P20849

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000112280 Expressed in 101 organ(s), highest expression level in tibia

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P20849 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA074749

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterotrimer of an alpha 1(IX), an alpha 2(IX) and an alpha 3(IX) chain.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107694, 8 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1748 Collagen type IX trimer

STRING: functional protein association networks

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STRINGi
9606.ENSP00000349790

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1921
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P20849

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P20849

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P20849

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini50 – 244Laminin G-likeAdd BLAST195
Domaini269 – 324Collagen-like 1Add BLAST56
Domaini325 – 356Collagen-like 2Add BLAST32
Domaini358 – 403Collagen-like 3Add BLAST46
Domaini416 – 472Collagen-like 4Add BLAST57
Domaini473 – 516Collagen-like 5Add BLAST44
Domaini587 – 643Collagen-like 6Add BLAST57
Domaini655 – 712Collagen-like 7Add BLAST58
Domaini713 – 755Collagen-like 8Add BLAST43
Domaini790 – 847Collagen-like 9Add BLAST58
Domaini848 – 899Collagen-like 10Add BLAST52

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni24 – 268Nonhelical region (NC4)Add BLAST245
Regioni269 – 405Triple-helical region (COL3)Add BLAST137
Regioni406 – 417Nonhelical region (NC3)Add BLAST12
Regioni418 – 756Triple-helical region (COL2)Add BLAST339
Regioni757 – 786Nonhelical region (NC2)Add BLAST30
Regioni787 – 901Triple-helical region (COL1)Add BLAST115
Regioni902 – 921Nonhelical region (NC1)Add BLAST20

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Each subunit is composed of three triple-helical domains interspersed with non-collagenous domains. The globular domain at the N-terminus of type IX collagen molecules represents the NC4 domain which may participate in electrostatic interactions with polyanionic glycosaminoglycans in cartilage.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3544 Eukaryota
ENOG410Y4B3 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157935

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG004933

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P20849

KEGG Orthology (KO)

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KOi
K08131

Identification of Orthologs from Complete Genome Data

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OMAi
FPGQMGL

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0ESN

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P20849

TreeFam database of animal gene trees

More...
TreeFami
TF332900

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR008160 Collagen
IPR013320 ConA-like_dom_sf
IPR001791 Laminin_G

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01391 Collagen, 8 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00210 TSPN, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49899 SSF49899, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P20849-1) [UniParc]FASTAAdd to basket
Also known as: Long

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
MKTCWKIPVF FFVCSFLEPW ASAAVKRRPR FPVNSNSNGG NELCPKIRIG
60 70 80 90 100
QDDLPGFDLI SQFQVDKAAS RRAIQRVVGS ATLQVAYKLG NNVDFRIPTR
110 120 130 140 150
NLYPSGLPEE YSFLTTFRMT GSTLKKNWNI WQIQDSSGKE QVGIKINGQT
160 170 180 190 200
QSVVFSYKGL DGSLQTAAFS NLSSLFDSQW HKIMIGVERS SATLFVDCNR
210 220 230 240 250
IESLPIKPRG PIDIDGFAVL GKLADNPQVS VPFELQWMLI HCDPLRPRRE
260 270 280 290 300
TCHELPARIT PSQTTDERGP PGEQGPPGPP GPPGVPGIDG IDGDRGPKGP
310 320 330 340 350
PGPPGPAGEP GKPGAPGKPG TPGADGLTGP DGSPGSIGSK GQKGEPGVPG
360 370 380 390 400
SRGFPGRGIP GPPGPPGTAG LPGELGRVGP VGDPGRRGPP GPPGPPGPRG
410 420 430 440 450
TIGFHDGDPL CPNACPPGRS GYPGLPGMRG HKGAKGEIGE PGRQGHKGEE
460 470 480 490 500
GDQGELGEVG AQGPPGAQGL RGITGIVGDK GEKGARGLDG EPGPQGLPGA
510 520 530 540 550
PGDQGQRGPP GEAGPKGDRG AEGARGIPGL PGPKGDTGLP GVDGRDGIPG
560 570 580 590 600
MPGTKGEPGK PGPPGDAGLQ GLPGVPGIPG AKGVAGEKGS TGAPGKPGQM
610 620 630 640 650
GNSGKPGQQG PPGEVGPRGP QGLPGSRGEL GPVGSPGLPG KLGSLGSPGL
660 670 680 690 700
PGLPGPPGLP GMKGDRGVVG EPGPKGEQGA SGEEGEAGER GELGDIGLPG
710 720 730 740 750
PKGSAGNPGE PGLRGPEGSR GLPGVEGPRG PPGPRGVQGE QGATGLPGVQ
760 770 780 790 800
GPPGRAPTDQ HIKQVCMRVI QEHFAEMAAS LKRPDSGATG LPGRPGPPGP
810 820 830 840 850
PGPPGENGFP GQMGIRGLPG IKGPPGALGL RGPKGDLGEK GERGPPGRGP
860 870 880 890 900
NGLPGAIGLP GDPGPASYGR NGRDGERGPP GVAGIPGVPG PPGPPGLPGF
910 920
CEPASCTMQA GQRAFNKGPD P
Length:921
Mass (Da):91,869
Last modified:May 18, 2010 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA69BF076127283D0
GO
Isoform 2 (identifier: P20849-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     1-243: Missing.
     244-267: PLRPRRETCHELPARITPSQTTDE → MAWTARDRGALGLLLLGLCLCAAQ

Show »
Length:678
Mass (Da):64,372
Checksum:iAD0E99997DF2896E
GO
Isoform 3 (identifier: P20849-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     326-328: GLT → TSP
     329-921: Missing.

Note: No experimental confirmation available.
Show »
Length:328
Mass (Da):35,509
Checksum:iBDD662939FECAD21
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YG47A0A2R8YG47_HUMAN
Collagen alpha-1(IX) chain
COL9A1
112Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti279 – 280PP → AS in CAA38276 (PubMed:2209617).Curated2
Sequence conflicti279 – 280PP → AS in CAA38277 (PubMed:2209617).Curated2
Sequence conflicti476I → L in CAA38276 (PubMed:2209617).Curated1
Sequence conflicti570Q → H in AAC33527 (PubMed:9707347).Curated1
Sequence conflicti570Q → H in AAC33528 (PubMed:9707347).Curated1
Sequence conflicti910 – 921AGQRA…KGPDP → LVSEHLTKGLTLERLTAAWL SA in AAA53475 (PubMed:2209617).CuratedAdd BLAST12

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_026463339S → P1 PublicationCorresponds to variant dbSNP:rs592121EnsemblClinVar.1
Natural variantiVAR_026464621Q → R2 PublicationsCorresponds to variant dbSNP:rs1135056EnsemblClinVar.1
Natural variantiVAR_055668684E → K. Corresponds to variant dbSNP:rs35470562Ensembl.1
Natural variantiVAR_055669767M → V. Corresponds to variant dbSNP:rs6910140EnsemblClinVar.1
Natural variantiVAR_023326870R → K3 PublicationsCorresponds to variant dbSNP:rs1056921Ensembl.1
Natural variantiVAR_023327882V → L3 PublicationsCorresponds to variant dbSNP:rs1056923Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0011411 – 243Missing in isoform 2. 2 PublicationsAdd BLAST243
Alternative sequenceiVSP_001142244 – 267PLRPR…QTTDE → MAWTARDRGALGLLLLGLCL CAAQ in isoform 2. 2 PublicationsAdd BLAST24
Alternative sequenceiVSP_015250326 – 328GLT → TSP in isoform 3. 1 Publication3
Alternative sequenceiVSP_015251329 – 921Missing in isoform 3. 1 PublicationAdd BLAST593

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
X54412 mRNA Translation: CAA38276.1
X54413 mRNA Translation: CAA38277.1
AF036130
, AF036110, AF036111, AF036112, AF036113, AF036114, AF036115, AF036116, AF036117, AF036118, AF036119, AF036120, AF036121, AF036122, AF036123, AF036124, AF036125, AF036126, AF036127, AF036128, AF036129 Genomic DNA Translation: AAC33527.1
AF036130
, AF036112, AF036113, AF036114, AF036115, AF036116, AF036117, AF036118, AF036119, AF036120, AF036121, AF036122, AF036123, AF036124, AF036125, AF036126, AF036127, AF036128, AF036129 Genomic DNA Translation: AAC33528.1
AL080275 Genomic DNA No translation available.
AL160262 Genomic DNA No translation available.
BC015409 mRNA Translation: AAH15409.1
BC063646 mRNA Translation: AAH63646.1
M32137, M32133 Genomic DNA Translation: AAA53474.1
M32137, M32135 Genomic DNA Translation: AAA53475.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47447.1 [P20849-2]
CCDS4971.1 [P20849-1]

Protein sequence database of the Protein Information Resource

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PIRi
S13580
S13581

NCBI Reference Sequences

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RefSeqi
NP_001842.3, NM_001851.4 [P20849-1]
NP_511040.2, NM_078485.3 [P20849-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.590892

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000320755; ENSP00000315252; ENSG00000112280 [P20849-2]
ENST00000357250; ENSP00000349790; ENSG00000112280 [P20849-1]
ENST00000370496; ENSP00000359527; ENSG00000112280 [P20849-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
1297

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1297

UCSC genome browser

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UCSCi
uc003pff.5 human [P20849-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X54412 mRNA Translation: CAA38276.1
X54413 mRNA Translation: CAA38277.1
AF036130
, AF036110, AF036111, AF036112, AF036113, AF036114, AF036115, AF036116, AF036117, AF036118, AF036119, AF036120, AF036121, AF036122, AF036123, AF036124, AF036125, AF036126, AF036127, AF036128, AF036129 Genomic DNA Translation: AAC33527.1
AF036130
, AF036112, AF036113, AF036114, AF036115, AF036116, AF036117, AF036118, AF036119, AF036120, AF036121, AF036122, AF036123, AF036124, AF036125, AF036126, AF036127, AF036128, AF036129 Genomic DNA Translation: AAC33528.1
AL080275 Genomic DNA No translation available.
AL160262 Genomic DNA No translation available.
BC015409 mRNA Translation: AAH15409.1
BC063646 mRNA Translation: AAH63646.1
M32137, M32133 Genomic DNA Translation: AAA53474.1
M32137, M32135 Genomic DNA Translation: AAA53475.1
CCDSiCCDS47447.1 [P20849-2]
CCDS4971.1 [P20849-1]
PIRiS13580
S13581
RefSeqiNP_001842.3, NM_001851.4 [P20849-1]
NP_511040.2, NM_078485.3 [P20849-2]
UniGeneiHs.590892

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2UURX-ray1.80A24-268[»]
5CTDX-ray1.60A754-789[»]
5CTIX-ray1.90A754-789[»]
5CVAX-ray2.10A/D754-789[»]
5CVBX-ray2.25A/D754-789[»]
ProteinModelPortaliP20849
SMRiP20849
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107694, 8 interactors
ComplexPortaliCPX-1748 Collagen type IX trimer
STRINGi9606.ENSP00000349790

PTM databases

iPTMnetiP20849
PhosphoSitePlusiP20849

Polymorphism and mutation databases

BioMutaiCOL9A1
DMDMi296439373

Proteomic databases

PaxDbiP20849
PeptideAtlasiP20849
PRIDEiP20849
ProteomicsDBi53816
53817 [P20849-2]
53818 [P20849-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1297
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320755; ENSP00000315252; ENSG00000112280 [P20849-2]
ENST00000357250; ENSP00000349790; ENSG00000112280 [P20849-1]
ENST00000370496; ENSP00000359527; ENSG00000112280 [P20849-3]
GeneIDi1297
KEGGihsa:1297
UCSCiuc003pff.5 human [P20849-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1297
DisGeNETi1297
EuPathDBiHostDB:ENSG00000112280.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
COL9A1
GeneReviewsiCOL9A1
HGNCiHGNC:2217 COL9A1
HPAiHPA074749
MalaCardsiCOL9A1
MIMi120210 gene
614134 phenotype
614135 phenotype
neXtProtiNX_P20849
OpenTargetsiENSG00000112280
Orphaneti250984 Autosomal recessive Stickler syndrome
166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly
PharmGKBiPA26733

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG410Y4B3 LUCA
GeneTreeiENSGT00940000157935
HOVERGENiHBG004933
InParanoidiP20849
KOiK08131
OMAiFPGQMGL
OrthoDBiEOG091G0ESN
PhylomeDBiP20849
TreeFamiTF332900

Enzyme and pathway databases

ReactomeiR-HSA-1442490 Collagen degradation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-186797 Signaling by PDGF
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-216083 Integrin cell surface interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-419037 NCAM1 interactions
R-HSA-8948216 Collagen chain trimerization

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
COL9A1 human
EvolutionaryTraceiP20849

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Collagen,_type_IX,_alpha_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
1297

Protein Ontology

More...
PROi
PR:P20849

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000112280 Expressed in 101 organ(s), highest expression level in tibia
GenevisibleiP20849 HS

Family and domain databases

InterProiView protein in InterPro
IPR008160 Collagen
IPR013320 ConA-like_dom_sf
IPR001791 Laminin_G
PfamiView protein in Pfam
PF01391 Collagen, 8 hits
SMARTiView protein in SMART
SM00210 TSPN, 1 hit
SUPFAMiSSF49899 SSF49899, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCO9A1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P20849
Secondary accession number(s): Q13699
, Q13700, Q5TF52, Q6P467, Q96BM8, Q99225, Q9H151, Q9H152, Q9Y6P2, Q9Y6P3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: May 18, 2010
Last modified: December 5, 2018
This is version 203 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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