Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 216 (16 Oct 2019)
Sequence version 4 (25 Nov 2008)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Collagen alpha-1(XI) chain

Gene

COL11A1

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

May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 bindingi1625CalciumBy similarity1
Metal bindingi1627CalciumBy similarity1
Metal bindingi1628Calcium; via carbonyl oxygenBy similarity1
Metal bindingi1630Calcium; via carbonyl oxygenBy similarity1
Metal bindingi1633CalciumBy similarity1

<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

GO - Biological processi

<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

LigandCalcium, Metal-binding

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-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-8874081 MET activates PTK2 signaling
R-HSA-8948216 Collagen chain trimerization

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P12107

<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(XI) 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:COL11A1
Synonyms:COLL6
<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 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2186 COL11A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
120280 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P12107

<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 & Seán O’Donoghue; 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

Stickler syndrome 2 (STL2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant 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.
Related information in OMIM
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_063675565G → V in STL2. 1 Publication1
Natural variantiVAR_013583625G → V in STL2. 1 PublicationCorresponds to variant dbSNP:rs121912943EnsemblClinVar.1
Natural variantiVAR_013584676G → R in STL2; overlapping phenotype with Marshall syndrome. 1 PublicationCorresponds to variant dbSNP:rs749663226Ensembl.1
Natural variantiVAR_013585921 – 926Missing in STL2; overlapping phenotype with Marshall syndrome. 1 Publication6
Natural variantiVAR_0636761027G → R in STL2. 1 Publication1
Natural variantiVAR_0636771110 – 1118Missing in STL2. 1 Publication9
Natural variantiVAR_0135861313 – 1315Missing in STL2; overlapping phenotype with Marshall syndrome. 1 Publication3
Natural variantiVAR_0636781513G → D in STL2. 1 PublicationCorresponds to variant dbSNP:rs1553193913EnsemblClinVar.1
Natural variantiVAR_0135871516G → V in STL2; overlapping phenotype with Marshall syndrome. 2 PublicationsCorresponds to variant dbSNP:rs1553193910EnsemblClinVar.1
Marshall syndrome (MRSHS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by ocular abnormalities, deafness, craniofacial anomalies, and anhidrotic ectodermal dysplasia. Clinical features include short stature; flat or retruded midface with short, depressed nose, flat nasal bridge and anteverted nares; cleft palate with or without the Pierre Robin sequence; appearance of large eyes with ocular hypertelorism; cataracts, either congenital or juvenile; esotropia; high myopia; sensorineural hearing loss; spondyloepiphyseal abnormalities; calcification of the falx cerebri; ectodermal abnormalities, including defects in sweating and dental structures.
Related information in OMIM
Fibrochondrogenesis 1 (FBCG1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe short-limbed skeletal dysplasia characterized by broad long-bone metaphyses, pear-shaped vertebral bodies, and characteristic morphology of the growth plate, in which the chondrocytes have a fibroblastic appearance and there are regions of fibrous cartilage extracellular matrix. Clinical features include a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065904796G → R in FBCG1. 1 Publication1
Natural variantiVAR_0659051042G → R in FBCG1. 1 Publication1

Keywords - Diseasei

Cataract, Deafness, Disease mutation, Dwarfism, Ectodermal dysplasia, Stickler syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
1301

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

More...
GeneReviewsi
COL11A1

MalaCards human disease database

More...
MalaCardsi
COL11A1
MIMi154780 phenotype
228520 phenotype
604841 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000060718

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

More...
Orphaneti
440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
250984 Autosomal recessive Stickler syndrome
2021 Fibrochondrogenesis
560 Marshall syndrome
90654 Stickler syndrome type 2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26702

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P12107

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2364188

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COL11A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
215274245

<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 – 35Sequence analysisAdd BLAST35
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000000577436 – 511N-terminal propeptideSequence analysisAdd BLAST476
<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_0000005775512 – 1563Collagen alpha-1(XI) chainAdd BLAST1052
PropeptideiPRO_00000057761564 – 1806C-terminal propeptideAdd BLAST243

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 bondi61 ↔ 243PROSITE-ProRule annotation
Disulfide bondi182 ↔ 236PROSITE-ProRule annotation
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei612Allysine1 Publication1
Modified residuei1452Allysine1 Publication1
Disulfide bondi1607 ↔ 1639PROSITE-ProRule annotation
Disulfide bondi1630InterchainPROSITE-ProRule annotation
<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>Glycosylationi1640N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1648 ↔ 1803PROSITE-ProRule annotation
Disulfide bondi1714 ↔ 1757PROSITE-ProRule annotation

<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

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
N-glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation

Proteomic databases

The CPTAC Assay portal

More...
CPTACi
CPTAC-1201
CPTAC-1202

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P12107

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P12107

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P12107

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

More...
PaxDbi
P12107

PeptideAtlas

More...
PeptideAtlasi
P12107

PRoteomics IDEntifications database

More...
PRIDEi
P12107

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
19514
52826 [P12107-1]
52827 [P12107-2]
52828 [P12107-3]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1130

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P12107

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

More...
PhosphoSitePlusi
P12107

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Cartilage, placenta and some tumor or virally transformed cell lines. Isoforms using exon IIA or IIB are found in the cartilage while isoforms using only exon IIB are found in the tendon.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000060718 Expressed in 148 organ(s), highest expression level in tibia

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P12107 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P12107 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA058335

<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

Trimers composed of three different chains: alpha 1(XI), alpha 2(XI), and alpha 3(XI). Alpha 3(XI) is a post-translational modification of alpha 1(II). Alpha 1(V) can also be found instead of alpha 3(XI)=1(II).

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107698, 2 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-1750 Collagen type XI trimer variant 1
CPX-1751 Collagen type XI trimer variant 2
CPX-1752 Collagen type XI trimer variant 3

Protein interaction database and analysis system

More...
IntActi
P12107, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000359114

<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

3D structure databases

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

More...
SMRi
P12107

Database of comparative protein structure models

More...
ModBasei
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

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>Domaini71 – 243Laminin G-likeAdd BLAST173
Domaini442 – 490Collagen-like 1Add BLAST49
Domaini532 – 586Collagen-like 2Add BLAST55
Domaini583 – 641Collagen-like 3Add BLAST59
Domaini616 – 674Collagen-like 4Add BLAST59
Domaini643 – 699Collagen-like 5Add BLAST57
Domaini1393 – 1450Collagen-like 6Add BLAST58
Domaini1429 – 1487Collagen-like 7Add BLAST59
Domaini1483 – 1541Collagen-like 8Add BLAST59
Domaini1577 – 1805Fibrillar collagen NC1PROSITE-ProRule annotationAdd BLAST229

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>Regioni230 – 419Nonhelical regionAdd BLAST190
Regioni420 – 508Triple-helical region (interrupted)Add BLAST89
Regioni509 – 511Short nonhelical segment3
Regioni512 – 528TelopeptideAdd BLAST17
Regioni529 – 1542Triple-helical regionAdd BLAST1014
Regioni1543 – 1563Nonhelical region (C-terminal)Add BLAST21

<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

The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).By similarity

<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

Belongs to the fibrillar collagen family.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3544 Eukaryota
ENOG41112UQ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154535

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000085654

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P12107

KEGG Orthology (KO)

More...
KOi
K19721

Identification of Orthologs from Complete Genome Data

More...
OMAi
RWSSRWK

Database of Orthologous Groups

More...
OrthoDBi
933605at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P12107

TreeFam database of animal gene trees

More...
TreeFami
TF323987

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR008160 Collagen
IPR013320 ConA-like_dom_sf
IPR000885 Fib_collagen_C
IPR001791 Laminin_G

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01410 COLFI, 1 hit
PF01391 Collagen, 7 hits
PF02210 Laminin_G_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00038 COLFI, 1 hit
SM00282 LamG, 1 hit
SM00210 TSPN, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49899 SSF49899, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51461 NC1_FIB, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)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 4 <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. There is alternative usage of exon IIA or exon IIB. Transcripts containing exon IIA or IIB are present in cartilage, but exon IIB is preferentially utilized in transcripts from tendon.

This entry has 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: P12107-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MEPWSSRWKT KRWLWDFTVT TLALTFLFQA REVRGAAPVD VLKALDFHNS
60 70 80 90 100
PEGISKTTGF CTNRKNSKGS DTAYRVSKQA QLSAPTKQLF PGGTFPEDFS
110 120 130 140 150
ILFTVKPKKG IQSFLLSIYN EHGIQQIGVE VGRSPVFLFE DHTGKPAPED
160 170 180 190 200
YPLFRTVNIA DGKWHRVAIS VEKKTVTMIV DCKKKTTKPL DRSERAIVDT
210 220 230 240 250
NGITVFGTRI LDEEVFEGDI QQFLITGDPK AAYDYCEHYS PDCDSSAPKA
260 270 280 290 300
AQAQEPQIDE YAPEDIIEYD YEYGEAEYKE AESVTEGPTV TEETIAQTEA
310 320 330 340 350
NIVDDFQEYN YGTMESYQTE APRHVSGTNE PNPVEEIFTE EYLTGEDYDS
360 370 380 390 400
QRKNSEDTLY ENKEIDGRDS DLLVDGDLGE YDFYEYKEYE DKPTSPPNEE
410 420 430 440 450
FGPGVPAETD ITETSINGHG AYGEKGQKGE PAVVEPGMLV EGPPGPAGPA
460 470 480 490 500
GIMGPPGLQG PTGPPGDPGD RGPPGRPGLP GADGLPGPPG TMLMLPFRYG
510 520 530 540 550
GDGSKGPTIS AQEAQAQAIL QQARIALRGP PGPMGLTGRP GPVGGPGSSG
560 570 580 590 600
AKGESGDPGP QGPRGVQGPP GPTGKPGKRG RPGADGGRGM PGEPGAKGDR
610 620 630 640 650
GFDGLPGLPG DKGHRGERGP QGPPGPPGDD GMRGEDGEIG PRGLPGEAGP
660 670 680 690 700
RGLLGPRGTP GAPGQPGMAG VDGPPGPKGN MGPQGEPGPP GQQGNPGPQG
710 720 730 740 750
LPGPQGPIGP PGEKGPQGKP GLAGLPGADG PPGHPGKEGQ SGEKGALGPP
760 770 780 790 800
GPQGPIGYPG PRGVKGADGV RGLKGSKGEK GEDGFPGFKG DMGLKGDRGE
810 820 830 840 850
VGQIGPRGED GPEGPKGRAG PTGDPGPSGQ AGEKGKLGVP GLPGYPGRQG
860 870 880 890 900
PKGSTGFPGF PGANGEKGAR GVAGKPGPRG QRGPTGPRGS RGARGPTGKP
910 920 930 940 950
GPKGTSGGDG PPGPPGERGP QGPQGPVGFP GPKGPPGPPG KDGLPGHPGQ
960 970 980 990 1000
RGETGFQGKT GPPGPGGVVG PQGPTGETGP IGERGHPGPP GPPGEQGLPG
1010 1020 1030 1040 1050
AAGKEGAKGD PGPQGISGKD GPAGLRGFPG ERGLPGAQGA PGLKGGEGPQ
1060 1070 1080 1090 1100
GPPGPVGSPG ERGSAGTAGP IGLPGRPGPQ GPPGPAGEKG APGEKGPQGP
1110 1120 1130 1140 1150
AGRDGVQGPV GLPGPAGPAG SPGEDGDKGE IGEPGQKGSK GDKGENGPPG
1160 1170 1180 1190 1200
PPGLQGPVGA PGIAGGDGEP GPRGQQGMFG QKGDEGARGF PGPPGPIGLQ
1210 1220 1230 1240 1250
GLPGPPGEKG ENGDVGPMGP PGPPGPRGPQ GPNGADGPQG PPGSVGSVGG
1260 1270 1280 1290 1300
VGEKGEPGEA GNPGPPGEAG VGGPKGERGE KGEAGPPGAA GPPGAKGPPG
1310 1320 1330 1340 1350
DDGPKGNPGP VGFPGDPGPP GEPGPAGQDG VGGDKGEDGD PGQPGPPGPS
1360 1370 1380 1390 1400
GEAGPPGPPG KRGPPGAAGA EGRQGEKGAK GEAGAEGPPG KTGPVGPQGP
1410 1420 1430 1440 1450
AGKPGPEGLR GIPGPVGEQG LPGAAGQDGP PGPMGPPGLP GLKGDPGSKG
1460 1470 1480 1490 1500
EKGHPGLIGL IGPPGEQGEK GDRGLPGTQG SPGAKGDGGI PGPAGPLGPP
1510 1520 1530 1540 1550
GPPGLPGPQG PKGNKGSTGP AGQKGDSGLP GPPGSPGPPG EVIQPLPILS
1560 1570 1580 1590 1600
SKKTRRHTEG MQADADDNIL DYSDGMEEIF GSLNSLKQDI EHMKFPMGTQ
1610 1620 1630 1640 1650
TNPARTCKDL QLSHPDFPDG EYWIDPNQGC SGDSFKVYCN FTSGGETCIY
1660 1670 1680 1690 1700
PDKKSEGVRI SSWPKEKPGS WFSEFKRGKL LSYLDVEGNS INMVQMTFLK
1710 1720 1730 1740 1750
LLTASARQNF TYHCHQSAAW YDVSSGSYDK ALRFLGSNDE EMSYDNNPFI
1760 1770 1780 1790 1800
KTLYDGCASR KGYEKTVIEI NTPKIDQVPI VDVMINDFGD QNQKFGFEVG

PVCFLG
Length:1,806
Mass (Da):181,065
Last modified:November 25, 2008 - v4
<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:i7CBF744263321B43
GO
Isoform B (identifier: P12107-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     261-299: YAPEDIIEYD...VTEETIAQTE → KKKSNFKKKM...ASAKAKLGVK

Show »
Length:1,818
Mass (Da):182,422
Checksum:iD86BD1303BA45C99
GO
Isoform C (identifier: P12107-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     261-299: Missing.

Show »
Length:1,767
Mass (Da):176,619
Checksum:iDE451EE638FDBCA9
GO
Isoform 4 (identifier: P12107-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     300-415: Missing.

Note: No experimental confirmation available.
Show »
Length:1,690
Mass (Da):167,752
Checksum:iA612FE4054F2F34E
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 are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JMN2C9JMN2_HUMAN
Collagen alpha-1(XI) chain
COL11A1
569Annotation 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>
A0A2R8Y4I5A0A2R8Y4I5_HUMAN
Collagen alpha-1(XI) chain
COL11A1
736Annotation 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>
A0A2R8Y4M5A0A2R8Y4M5_HUMAN
Collagen alpha-1(XI) chain
COL11A1
729Annotation 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>
A0A2R8Y5N4A0A2R8Y5N4_HUMAN
Collagen alpha-1(XI) chain
COL11A1
756Annotation 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>
A0A2R8YDU3A0A2R8YDU3_HUMAN
Collagen alpha-1(XI) chain
COL11A1
780Annotation 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>
A0A0U1RRA7A0A0U1RRA7_HUMAN
Collagen alpha-1(XI) chain
COL11A1
694Annotation 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>
H7C381H7C381_HUMAN
Collagen alpha-1(XI) chain
COL11A1
200Annotation 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 conflicti941 – 944KDGL → RMGC in AAA51891 (PubMed:1690726).Curated4
Sequence conflicti986H → Y in AAA51891 (PubMed:1690726).Curated1
Sequence conflicti1074P → R in AAA51891 (PubMed:1690726).Curated1
Sequence conflicti1142D → G in AAA51891 (PubMed:1690726).Curated1
Sequence conflicti1218M → W in AAA51891 (PubMed:1690726).Curated1
Sequence conflicti1758A → T in AAA51891 (PubMed:1690726).Curated1
Sequence conflicti1786N → S in AAA51891 (PubMed:1690726).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0477238W → G. Corresponds to variant dbSNP:rs12025888Ensembl.1
Natural variantiVAR_04772446D → E. Corresponds to variant dbSNP:rs11164663EnsemblClinVar.1
Natural variantiVAR_047725559G → S. Corresponds to variant dbSNP:rs12143815Ensembl.1
Natural variantiVAR_063675565G → V in STL2. 1 Publication1
Natural variantiVAR_013583625G → V in STL2. 1 PublicationCorresponds to variant dbSNP:rs121912943EnsemblClinVar.1
Natural variantiVAR_013584676G → R in STL2; overlapping phenotype with Marshall syndrome. 1 PublicationCorresponds to variant dbSNP:rs749663226Ensembl.1
Natural variantiVAR_065904796G → R in FBCG1. 1 Publication1
Natural variantiVAR_013585921 – 926Missing in STL2; overlapping phenotype with Marshall syndrome. 1 Publication6
Natural variantiVAR_0636761027G → R in STL2. 1 Publication1
Natural variantiVAR_0659051042G → R in FBCG1. 1 Publication1
Natural variantiVAR_0636771110 – 1118Missing in STL2. 1 Publication9
Natural variantiVAR_0135861313 – 1315Missing in STL2; overlapping phenotype with Marshall syndrome. 1 Publication3
Natural variantiVAR_0477261323P → L3 PublicationsCorresponds to variant dbSNP:rs3753841EnsemblClinVar.1
Natural variantiVAR_0357431326A → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0357441328Q → K in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs750014974Ensembl.1
Natural variantiVAR_0357451328Q → L in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0636781513G → D in STL2. 1 PublicationCorresponds to variant dbSNP:rs1553193913EnsemblClinVar.1
Natural variantiVAR_0135871516G → V in STL2; overlapping phenotype with Marshall syndrome. 2 PublicationsCorresponds to variant dbSNP:rs1553193910EnsemblClinVar.1
Natural variantiVAR_0477271535S → P4 PublicationsCorresponds to variant dbSNP:rs1676486EnsemblClinVar.1
Natural variantiVAR_0477281805L → F. Corresponds to variant dbSNP:rs1975916Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_001145261 – 299YAPED…IAQTE → KKKSNFKKKMRTVATKSKEK SKKFTPPKSEKFSSKKKKSY QASAKAKLGVK in isoform B. CuratedAdd BLAST39
Alternative sequenceiVSP_001146261 – 299Missing in isoform C. CuratedAdd BLAST39
Alternative sequenceiVSP_046318300 – 415Missing in isoform 4. 1 PublicationAdd BLAST116

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
J04177 mRNA Translation: AAA51891.1
AF101112
, AF101079, AF101080, AF101081, AF101082, AF101083, AF101084, AF101085, AF101086, AF101087, AF101088, AF101089, AF101090, AF101091, AF101092, AF101093, AF101094, AF101095, AF101096, AF101097, AF101098, AF101099, AF101100, AF101101, AF101102, AF101103, AF101104, AF101105, AF101106, AF101107, AF101108, AF101109, AF101110, AF101111 Genomic DNA Translation: AAF04724.1
AF101112
, AF101079, AF101080, AF101081, AF101082, AF101083, AF101084, AF101085, AF101086, AF101087, AF101088, AF101089, AF101090, AF101091, AF101092, AF101093, AF101094, AF101095, AF101096, AF101097, AF101098, AF101099, AF101100, AF101101, AF101102, AF101103, AF101104, AF101105, AF101106, AF101107, AF101108, AF101109, AF101110, AF101111 Genomic DNA Translation: AAF04725.1
AF101112
, AF101079, AF101080, AF101081, AF101082, AF101083, AF101084, AF101085, AF101086, AF101087, AF101088, AF101089, AF101090, AF101091, AF101092, AF101093, AF101094, AF101095, AF101096, AF101097, AF101098, AF101099, AF101100, AF101101, AF101102, AF101103, AF101104, AF101105, AF101106, AF101107, AF101108, AF101109, AF101110, AF101111 Genomic DNA Translation: AAF04726.1
AC093150 Genomic DNA No translation available.
AC099567 Genomic DNA No translation available.
AL627203 Genomic DNA No translation available.
CH471097 Genomic DNA Translation: EAW72908.1
CH471097 Genomic DNA Translation: EAW72910.1
BC117697 mRNA Translation: AAI17698.1
L38956 Genomic DNA Translation: AAA79171.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS53348.1 [P12107-3]
CCDS778.1 [P12107-1]
CCDS780.2 [P12107-4]

Protein sequence database of the Protein Information Resource

More...
PIRi
A35239 CGHU1E

NCBI Reference Sequences

More...
RefSeqi
NP_001177638.1, NM_001190709.1 [P12107-3]
NP_001845.3, NM_001854.3 [P12107-1]
NP_542196.2, NM_080629.2 [P12107-2]
NP_542197.3, NM_080630.3 [P12107-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000353414; ENSP00000302551; ENSG00000060718 [P12107-3]
ENST00000358392; ENSP00000351163; ENSG00000060718 [P12107-2]
ENST00000370096; ENSP00000359114; ENSG00000060718 [P12107-1]
ENST00000512756; ENSP00000426533; ENSG00000060718 [P12107-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1301

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1301

UCSC genome browser

More...
UCSCi
uc001dul.4 human [P12107-1]

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
J04177 mRNA Translation: AAA51891.1
AF101112
, AF101079, AF101080, AF101081, AF101082, AF101083, AF101084, AF101085, AF101086, AF101087, AF101088, AF101089, AF101090, AF101091, AF101092, AF101093, AF101094, AF101095, AF101096, AF101097, AF101098, AF101099, AF101100, AF101101, AF101102, AF101103, AF101104, AF101105, AF101106, AF101107, AF101108, AF101109, AF101110, AF101111 Genomic DNA Translation: AAF04724.1
AF101112
, AF101079, AF101080, AF101081, AF101082, AF101083, AF101084, AF101085, AF101086, AF101087, AF101088, AF101089, AF101090, AF101091, AF101092, AF101093, AF101094, AF101095, AF101096, AF101097, AF101098, AF101099, AF101100, AF101101, AF101102, AF101103, AF101104, AF101105, AF101106, AF101107, AF101108, AF101109, AF101110, AF101111 Genomic DNA Translation: AAF04725.1
AF101112
, AF101079, AF101080, AF101081, AF101082, AF101083, AF101084, AF101085, AF101086, AF101087, AF101088, AF101089, AF101090, AF101091, AF101092, AF101093, AF101094, AF101095, AF101096, AF101097, AF101098, AF101099, AF101100, AF101101, AF101102, AF101103, AF101104, AF101105, AF101106, AF101107, AF101108, AF101109, AF101110, AF101111 Genomic DNA Translation: AAF04726.1
AC093150 Genomic DNA No translation available.
AC099567 Genomic DNA No translation available.
AL627203 Genomic DNA No translation available.
CH471097 Genomic DNA Translation: EAW72908.1
CH471097 Genomic DNA Translation: EAW72910.1
BC117697 mRNA Translation: AAI17698.1
L38956 Genomic DNA Translation: AAA79171.1
CCDSiCCDS53348.1 [P12107-3]
CCDS778.1 [P12107-1]
CCDS780.2 [P12107-4]
PIRiA35239 CGHU1E
RefSeqiNP_001177638.1, NM_001190709.1 [P12107-3]
NP_001845.3, NM_001854.3 [P12107-1]
NP_542196.2, NM_080629.2 [P12107-2]
NP_542197.3, NM_080630.3 [P12107-4]

3D structure databases

SMRiP12107
ModBaseiSearch...

Protein-protein interaction databases

BioGridi107698, 2 interactors
ComplexPortaliCPX-1750 Collagen type XI trimer variant 1
CPX-1751 Collagen type XI trimer variant 2
CPX-1752 Collagen type XI trimer variant 3
IntActiP12107, 1 interactor
STRINGi9606.ENSP00000359114

Chemistry databases

ChEMBLiCHEMBL2364188

PTM databases

GlyConnecti1130
iPTMnetiP12107
PhosphoSitePlusiP12107

Polymorphism and mutation databases

BioMutaiCOL11A1
DMDMi215274245

Proteomic databases

CPTACiCPTAC-1201
CPTAC-1202
jPOSTiP12107
MassIVEiP12107
MaxQBiP12107
PaxDbiP12107
PeptideAtlasiP12107
PRIDEiP12107
ProteomicsDBi19514
52826 [P12107-1]
52827 [P12107-2]
52828 [P12107-3]

Genome annotation databases

EnsembliENST00000353414; ENSP00000302551; ENSG00000060718 [P12107-3]
ENST00000358392; ENSP00000351163; ENSG00000060718 [P12107-2]
ENST00000370096; ENSP00000359114; ENSG00000060718 [P12107-1]
ENST00000512756; ENSP00000426533; ENSG00000060718 [P12107-4]
GeneIDi1301
KEGGihsa:1301
UCSCiuc001dul.4 human [P12107-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1301
DisGeNETi1301

GeneCards: human genes, protein and diseases

More...
GeneCardsi
COL11A1
GeneReviewsiCOL11A1
HGNCiHGNC:2186 COL11A1
HPAiHPA058335
MalaCardsiCOL11A1
MIMi120280 gene
154780 phenotype
228520 phenotype
604841 phenotype
neXtProtiNX_P12107
OpenTargetsiENSG00000060718
Orphaneti440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
250984 Autosomal recessive Stickler syndrome
2021 Fibrochondrogenesis
560 Marshall syndrome
90654 Stickler syndrome type 2
PharmGKBiPA26702

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG41112UQ LUCA
GeneTreeiENSGT00940000154535
HOGENOMiHOG000085654
InParanoidiP12107
KOiK19721
OMAiRWSSRWK
OrthoDBi933605at2759
PhylomeDBiP12107
TreeFamiTF323987

Enzyme and pathway databases

ReactomeiR-HSA-1442490 Collagen degradation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-8874081 MET activates PTK2 signaling
R-HSA-8948216 Collagen chain trimerization
SIGNORiP12107

Miscellaneous databases

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

More...
ChiTaRSi
COL11A1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Collagen,_type_XI,_alpha_1

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

More...
GenomeRNAii
1301
PharosiP12107

Protein Ontology

More...
PROi
PR:P12107

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000060718 Expressed in 148 organ(s), highest expression level in tibia
ExpressionAtlasiP12107 baseline and differential
GenevisibleiP12107 HS

Family and domain databases

InterProiView protein in InterPro
IPR008160 Collagen
IPR013320 ConA-like_dom_sf
IPR000885 Fib_collagen_C
IPR001791 Laminin_G
PfamiView protein in Pfam
PF01410 COLFI, 1 hit
PF01391 Collagen, 7 hits
PF02210 Laminin_G_2, 1 hit
SMARTiView protein in SMART
SM00038 COLFI, 1 hit
SM00282 LamG, 1 hit
SM00210 TSPN, 1 hit
SUPFAMiSSF49899 SSF49899, 1 hit
PROSITEiView protein in PROSITE
PS51461 NC1_FIB, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiCOBA1_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: P12107
Secondary accession number(s): B1ASK7
, D3DT73, E9PCU0, Q14034, Q149N0, Q9UIT4, Q9UIT5, Q9UIT6
<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: October 1, 1989
Last sequence update: November 25, 2008
Last modified: October 16, 2019
This is version 216 of the entry and version 4 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. 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