Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Collagen alpha-3(IX) chain

Gene

COL9A3

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.

<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

GO - Biological processi

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-3(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:COL9A3
<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 20

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000092758.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2219 COL9A3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
120270 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14050

<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

<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>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 3 (EDM3)2 Publications
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:600969
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_07273635G → D in EDM3. 1 PublicationCorresponds to variant dbSNP:rs1390736361Ensembl.1
Intervertebral disc disease (IDD)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry. Susceptibility to intervertebral disk disease is conferred by variant p.Arg103Trp (PubMed:11308397).1 Publication
Disease descriptionA common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain.
See also OMIM:603932

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
1299

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

More...
GeneReviewsi
COL9A3

MalaCards human disease database

More...
MalaCardsi
COL9A3
MIMi600969 phenotype
603932 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000092758

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
PA26735

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COL9A3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20137327

<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 – 25Sequence analysisAdd BLAST25
<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_000000584826 – 684Collagen alpha-3(IX) chainAdd BLAST659

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Glycosylationi483N-linked (GlcNAc...) asparagineSequence analysis1

<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

Glycoprotein, Hydroxylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q14050

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q14050

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

More...
PaxDbi
Q14050

PeptideAtlas

More...
PeptideAtlasi
Q14050

PRoteomics IDEntifications database

More...
PRIDEi
Q14050

ProteomicsDB human proteome resource

More...
ProteomicsDBi
59803

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q14050

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

More...
PhosphoSitePlusi
Q14050

<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
ENSG00000092758 Expressed in 181 organ(s), highest expression level in tibia

CleanEx database of gene expression profiles

More...
CleanExi
HS_COL9A3

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q14050 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q14050 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA040125
HPA058323

<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)

More...
BioGridi
107696, 1 interactor

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-1748 Collagen type IX trimer

Protein interaction database and analysis system

More...
IntActi
Q14050, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000341640

<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

1684
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q14050

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

More...
SMRi
Q14050

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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

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>Regioni29 – 519Triple-helical region 3 (COL3)Add BLAST491
Regioni520 – 550Nonhelical region 3 (NC3)Add BLAST31
Regioni551 – 630Triple-helical region 2 (COL2)Add BLAST80
Regioni631 – 632Nonhelical region 2 (NC2)2
Regioni633 – 661Triple-helical region 1 (COL1)Add BLAST29
Regioni662 – 684Nonhelical region 1 (NC1)Add BLAST23

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi423 – 425Cell attachment siteSequence analysis3
Motifi601 – 603Cell attachment siteSequence analysis3

<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
ENOG410XNMM LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000163687

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000085653

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG004933

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q14050

KEGG Orthology (KO)

More...
KOi
K08131

Identification of Orthologs from Complete Genome Data

More...
OMAi
FKGPTGY

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0C0F

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q14050

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR008160 Collagen

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01391 Collagen, 6 hits

<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>Sequence (1+)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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q14050-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAGPRACAPL LLLLLLGELL AAAGAQRVGL PGPPGPPGPP GKPGQDGIDG
60 70 80 90 100
EAGPPGLPGP PGPKGAPGKP GKPGEAGLPG LPGVDGLTGR DGPPGPKGAP
110 120 130 140 150
GERGSLGPPG PPGLGGKGLP GPPGEAGVSG PPGGIGLRGP PGPSGLPGLP
160 170 180 190 200
GPPGPPGPPG HPGVLPEGAT DLQCPSICPP GPPGPPGMPG FKGPTGYKGE
210 220 230 240 250
QGEVGKDGEK GDPGPPGPAG LPGSVGLQGP RGLRGLPGPL GPPGDRGPIG
260 270 280 290 300
FRGPPGIPGA PGKAGDRGER GPEGFRGPKG DLGRPGPKGT PGVAGPSGEP
310 320 330 340 350
GMPGKDGQNG VPGLDGQKGE AGRNGAPGEK GPNGLPGLPG RAGSKGEKGE
360 370 380 390 400
RGRAGELGEA GPSGEPGVPG DAGMPGERGE AGHRGSAGAL GPQGPPGAPG
410 420 430 440 450
VRGFQGQKGS MGDPGLPGPQ GLRGDVGDRG PGGAAGPKGD QGIAGSDGLP
460 470 480 490 500
GDKGELGPSG LVGPKGESGS RGELGPKGTQ GPNGTSGVQG VPGPPGPLGL
510 520 530 540 550
QGVPGVPGIT GKPGVPGKEA SEQRIRELCG GMISEQIAQL AAHLRKPLAP
560 570 580 590 600
GSIGRPGPAG PPGPPGPPGS IGHPGARGPP GYRGPTGELG DPGPRGNQGD
610 620 630 640 650
RGDKGAAGAG LDGPEGDQGP QGPQGVPGTS KDGQDGAPGE PGPPGDPGLP
660 670 680
GAIGAQGTPG ICDTSACQGA VLGGVGEKSG SRSS
Length:684
Mass (Da):63,616
Last modified:January 23, 2002 - v2
<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:i892F035CF6E06733
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
Q4VXW1Q4VXW1_HUMAN
Collagen alpha-3(IX) chain
COL9A3
191Annotation 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 conflicti18E → Q in AAC41947 (PubMed:8586434).Curated1
Sequence conflicti18E → Q in AAD47357 (PubMed:10428822).Curated1
Sequence conflicti39P → R in AAC41947 (PubMed:8586434).Curated1
Sequence conflicti144S → P in AAC41947 (PubMed:8586434).Curated1
Sequence conflicti524R → H in CAA62495 (PubMed:9164858).Curated1
Sequence conflicti576A → T in CAA62495 (PubMed:9164858).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07273635G → D in EDM3. 1 PublicationCorresponds to variant dbSNP:rs1390736361Ensembl.1
Natural variantiVAR_04880894P → S. Corresponds to variant dbSNP:rs35908728EnsemblClinVar.1
Natural variantiVAR_026467103R → Q1 PublicationCorresponds to variant dbSNP:rs142639450EnsemblClinVar.1
Natural variantiVAR_026468103R → W Associated with an increased risk for intervertebral disk disease. 1 PublicationCorresponds to variant dbSNP:rs61734651EnsemblClinVar.1
Natural variantiVAR_026469296P → L1 PublicationCorresponds to variant dbSNP:rs45628843EnsemblClinVar.1
Natural variantiVAR_026470402R → Q1 PublicationCorresponds to variant dbSNP:rs373519549Ensembl.1
Natural variantiVAR_026471435A → E2 PublicationsCorresponds to variant dbSNP:rs751557EnsemblClinVar.1
Natural variantiVAR_012660563 – 565Missing 1 Publication3
Natural variantiVAR_012661564 – 566Missing 1 Publication3

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L41162 mRNA Translation: AAC41947.1
AF026802, AF026801 Genomic DNA Translation: AAD47357.1
AL035669 Genomic DNA No translation available.
BC011705 mRNA Translation: AAH11705.1
X91013 mRNA Translation: CAA62495.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13505.1

NCBI Reference Sequences

More...
RefSeqi
NP_001844.3, NM_001853.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.716639

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000343916; ENSP00000341640; ENSG00000092758
ENST00000649368; ENSP00000496793; ENSG00000092758

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1299

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1299

UCSC genome browser

More...
UCSCi
uc002ydm.3 human

Keywords - Coding sequence diversityi

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
L41162 mRNA Translation: AAC41947.1
AF026802, AF026801 Genomic DNA Translation: AAD47357.1
AL035669 Genomic DNA No translation available.
BC011705 mRNA Translation: AAH11705.1
X91013 mRNA Translation: CAA62495.1
CCDSiCCDS13505.1
RefSeqiNP_001844.3, NM_001853.3
UniGeneiHs.716639

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5CTDX-ray1.60C517-553[»]
5CTIX-ray1.90C517-553[»]
5CVAX-ray2.10C/F517-553[»]
5CVBX-ray2.25C/F517-553[»]
ProteinModelPortaliQ14050
SMRiQ14050
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107696, 1 interactor
ComplexPortaliCPX-1748 Collagen type IX trimer
IntActiQ14050, 1 interactor
STRINGi9606.ENSP00000341640

PTM databases

iPTMnetiQ14050
PhosphoSitePlusiQ14050

Polymorphism and mutation databases

BioMutaiCOL9A3
DMDMi20137327

Proteomic databases

EPDiQ14050
MaxQBiQ14050
PaxDbiQ14050
PeptideAtlasiQ14050
PRIDEiQ14050
ProteomicsDBi59803

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1299
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343916; ENSP00000341640; ENSG00000092758
ENST00000649368; ENSP00000496793; ENSG00000092758
GeneIDi1299
KEGGihsa:1299
UCSCiuc002ydm.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1299
DisGeNETi1299
EuPathDBiHostDB:ENSG00000092758.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
COL9A3
GeneReviewsiCOL9A3
HGNCiHGNC:2219 COL9A3
HPAiHPA040125
HPA058323
MalaCardsiCOL9A3
MIMi120270 gene
600969 phenotype
603932 phenotype
neXtProtiNX_Q14050
OpenTargetsiENSG00000092758
Orphaneti250984 Autosomal recessive Stickler syndrome
166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly
PharmGKBiPA26735

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG410XNMM LUCA
GeneTreeiENSGT00940000163687
HOGENOMiHOG000085653
HOVERGENiHBG004933
InParanoidiQ14050
KOiK08131
OMAiFKGPTGY
OrthoDBiEOG091G0C0F
PhylomeDBiQ14050

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
COL9A3 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
COL9A3

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

More...
GenomeRNAii
1299

Protein Ontology

More...
PROi
PR:Q14050

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000092758 Expressed in 181 organ(s), highest expression level in tibia
CleanExiHS_COL9A3
ExpressionAtlasiQ14050 baseline and differential
GenevisibleiQ14050 HS

Family and domain databases

InterProiView protein in InterPro
IPR008160 Collagen
PfamiView protein in Pfam
PF01391 Collagen, 6 hits

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 nameiCO9A3_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: Q14050
Secondary accession number(s): Q13681, Q9H4G9, Q9UPE2
<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: January 23, 2002
Last sequence update: January 23, 2002
Last modified: December 5, 2018
This is version 177 of the entry and version 2 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, 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 20
    Human chromosome 20: 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again