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Protein

Collagen alpha-1(XXVII) chain

Gene

COL27A1

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

Plays a role during the calcification of cartilage and the transition of cartilage to bone.1 Publication

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 bindingi1708CalciumBy similarity1
Metal bindingi1710CalciumBy similarity1
Metal bindingi1713Calcium; via carbonyl oxygenBy similarity1
Metal bindingi1716CalciumBy 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-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-8874081 MET activates PTK2 signaling
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(XXVII) 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:COL27A1
Synonyms:KIAA1870
<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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000196739.14

Human Gene Nomenclature Database

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HGNCi
HGNC:22986 COL27A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608461 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IZC6

<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

Steel syndrome (STLS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by dislocated hips and radial heads, fusion of carpal bones, short stature, scoliosis, and cervical spine anomalies. Facial features include prominent forehead, long oval-shaped face, hypertelorism and broad nasal bridge.
See also OMIM:615155
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_072564697G → R in STLS. 1 PublicationCorresponds to variant dbSNP:rs140950220EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
85301

MalaCards human disease database

More...
MalaCardsi
COL27A1
MIMi615155 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000196739

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

More...
Orphaneti
438117 Steel syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134990818

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
COL27A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74762504

<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 – 41Sequence analysisAdd BLAST41
<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_000031466742 – 624N-terminal propeptideAdd BLAST583
<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_5000089163625 – 1621Collagen alpha-1(XXVII) chainAdd BLAST997
PropeptideiPRO_00003146681622 – 1860C-terminal propeptideAdd BLAST239

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>Glycosylationi271N-linked (GlcNAc...) asparagineSequence analysis1
<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 bondi1690 ↔ 1722PROSITE-ProRule annotation
Disulfide bondi1696Interchain (with C-1285)PROSITE-ProRule annotation
Disulfide bondi1713Interchain (with C-1268)PROSITE-ProRule annotation
Disulfide bondi1731 ↔ 1858PROSITE-ProRule annotation
Disulfide bondi1767 ↔ 1811PROSITE-ProRule annotation
Glycosylationi1769N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

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

More...
PaxDbi
Q8IZC6

PeptideAtlas

More...
PeptideAtlasi
Q8IZC6

PRoteomics IDEntifications database

More...
PRIDEi
Q8IZC6

ProteomicsDB human proteome resource

More...
ProteomicsDBi
71316
71317 [Q8IZC6-2]
71318 [Q8IZC6-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IZC6

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

More...
PhosphoSitePlusi
Q8IZC6

<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 the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Detected at E67 in the primary ossification center and is tightly restricted to the pericellular region of the hypertrophic chondrocytes and lacunae at the very center of the future diaphysis. At fetal 20-week highly abundant in the hypertrophic zone at the chondroosseous junction. Weakly detected around cells in the resting and proliferative zone of the cartilaginous plate, but the intense detection occurred deep in the hypertrophic zone near the newly formed bone. Detected throughout the extracellular matrix (ECM) in this zone it is also closely situated around hypertrophic chondrocytes.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000196739 Expressed in 202 organ(s), highest expression level in tibia

CleanEx database of gene expression profiles

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CleanExi
HS_COL27A1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8IZC6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8IZC6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA021884
HPA048471

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
124464, 1 interactor

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1768 Collagen type XXVII trimer

Protein interaction database and analysis system

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IntActi
Q8IZC6, 2 interactors

Molecular INTeraction database

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MINTi
Q8IZC6

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000348385

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q8IZC6

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

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SMRi
Q8IZC6

Database of comparative protein structure models

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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

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 – 236Laminin G-likeAdd BLAST166
Domaini625 – 679Collagen-like 1Add BLAST55
Domaini688 – 747Collagen-like 2Add BLAST60
Domaini748 – 807Collagen-like 3Add BLAST60
Domaini808 – 867Collagen-like 4Add BLAST60
Domaini871 – 930Collagen-like 5Add BLAST60
Domaini931 – 990Collagen-like 6Add BLAST60
Domaini1003 – 1062Collagen-like 7Add BLAST60
Domaini1066 – 1125Collagen-like 8Add BLAST60
Domaini1126 – 1185Collagen-like 9Add BLAST60
Domaini1192 – 1251Collagen-like 10Add BLAST60
Domaini1258 – 1317Collagen-like 11Add BLAST60
Domaini1318 – 1378Collagen-like 12Add BLAST61
Domaini1382 – 1441Collagen-like 13Add BLAST60
Domaini1442 – 1501Collagen-like 14Add BLAST60
Domaini1502 – 1561Collagen-like 15Add BLAST60
Domaini1562 – 1621Collagen-like 16Add BLAST60
Domaini1660 – 1860Fibrillar collagen NC1PROSITE-ProRule annotationAdd BLAST201

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>Regioni625 – 1618Triple-helical regionAdd BLAST994

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi283 – 1621Pro-richAdd BLAST1339

<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

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eggNOGi
KOG3544 Eukaryota
ENOG410XNMM LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000163466

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000085654

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG098141

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8IZC6

KEGG Orthology (KO)

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KOi
K19721

Identification of Orthologs from Complete Genome Data

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OMAi
SFACHLA

Database of Orthologous Groups

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OrthoDBi
EOG091G00WS

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8IZC6

TreeFam database of animal gene trees

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TreeFami
TF344135

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
IPR000885 Fib_collagen_C
IPR001791 Laminin_G

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01410 COLFI, 2 hits
PF01391 Collagen, 13 hits

ProDom; a protein domain database

More...
ProDomi
View protein in ProDom or Entries sharing at least one domain
PD002078 Fib_collagen_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00038 COLFI, 1 hit
SM00210 TSPN, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49899 SSF49899, 1 hit

PROSITE; a protein domain and family database

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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>.<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

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IZC6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGAGSARGAR GTAAAAAARG GGFLFSWILV SFACHLASTQ GAPEDVDILQ
60 70 80 90 100
RLGLSWTKAG SPAPPGVIPF QSGFIFTQRA RLQAPTGTVI PAALGTELAL
110 120 130 140 150
VLSLCSHRVN HAFLFAVRSQ KRKLQLGLQF LPGKTVVHLG SRRSVAFDLD
160 170 180 190 200
MHDGRWHHLA LELRGRTVTL VTACGQRRVP VLLPFHRDPA LDPGGSFLFG
210 220 230 240 250
KMNPHAVQFE GALCQFSIYP VTQVAHNYCT HLRKQCGQAD TYQSPLGPLF
260 270 280 290 300
SQDSGRPFTF QSDLALLGLE NLTTATPALG SLPAGRGPRG TVAPATPTKP
310 320 330 340 350
QRTSPTNPHQ HMAVGGPAQT PLLPAKLSAS NALDPMLPAS VGGSTRTPRP
360 370 380 390 400
AAAQPSQKIT ATKIPKSLPT KPSAPSTSIV PIKSPHPTQK TAPSSFTKSA
410 420 430 440 450
LPTQKQVPPT SRPVPARVSR PAEKPIQRNP GMPRPPPPST RPLPPTTSSS
460 470 480 490 500
KKPIPTLART EAKITSHASK PASARTSTHK PPPFTALSSS PAPTPGSTRS
510 520 530 540 550
TRPPATMVPP TSGTSTPRTA PAVPTPGSAP TGSKKPIGSE ASKKAGPKSS
560 570 580 590 600
PRKPVPLRPG KAARDVPLSD LTTRPSPRQP QPSQQTTPAL VLAPAQFLSS
610 620 630 640 650
SPRPTSSGYS IFHLAGSTPF PLLMGPPGPK GDCGLPGPPG LPGLPGIPGA
660 670 680 690 700
RGPRGPPGPY GNPGLPGPPG AKGQKGDPGL SPGKAHDGAK GDMGLPGLSG
710 720 730 740 750
NPGPPGRKGH KGYPGPAGHP GEQGQPGPEG SPGAKGYPGR QGLPGPVGDP
760 770 780 790 800
GPKGSRGYIG LPGLFGLPGS DGERGLPGVP GKRGKMGMPG FPGVFGERGP
810 820 830 840 850
PGLDGNPGEL GLPGPPGVPG LIGDLGVLGP IGYPGPKGMK GLMGSVGEPG
860 870 880 890 900
LKGDKGEQGV PGVSGDPGFQ GDKGSQGLPG FPGARGKPGP LGKVGDKGSI
910 920 930 940 950
GFPGPPGPEG FPGDIGPPGD NGPEGMKGKP GARGLPGPRG QLGPEGDEGP
960 970 980 990 1000
MGPPGAPGLE GQPGRKGFPG RPGLDGVKGE PGDPGRPGPV GEQGFMGFIG
1010 1020 1030 1040 1050
LVGEPGIVGE KGDRGMMGPP GVPGPKGSMG HPGMPGGMGT PGEPGPQGPP
1060 1070 1080 1090 1100
GSRGPPGMRG AKGRRGPRGP DGPAGEQGSR GLKGPPGPQG RPGRPGQQGV
1110 1120 1130 1140 1150
AGERGHLGSR GFPGIPGPSG PPGTKGLPGE PGPQGPQGPI GPPGEMGPKG
1160 1170 1180 1190 1200
PPGAVGEPGL PGEAGMKGDL GPLGTPGEQG LIGQRGEPGL EGDSGPMGPD
1210 1220 1230 1240 1250
GLKGDRGDPG PDGEHGEKGQ EGLMGEDGPP GPPGVTGVRG PEGKSGKQGE
1260 1270 1280 1290 1300
KGRTGAKGAK GYQGQLGEMG VPGDPGPPGT PGPKGSRGSL GPTGAPGRMG
1310 1320 1330 1340 1350
AQGEPGLAGY DGHKGIVGPL GPPGPKGEKG EQGEDGKAEG PPGPPGDRGP
1360 1370 1380 1390 1400
VGDRGDRGEP GDPGYPGQEG VQGLRGKPGQ QGQPGHPGPR GWPGPKGSKG
1410 1420 1430 1440 1450
AEGPKGKQGK AGAPGRRGVQ GLQGLPGPRG VVGRQGLEGI AGPDGLPGRD
1460 1470 1480 1490 1500
GQAGQQGEQG DDGDPGPMGP AGKRGNPGVA GLPGAQGPPG FKGESGLPGQ
1510 1520 1530 1540 1550
LGPPGKRGTE GRTGLPGNQG EPGSKGQPGD SGEMGFPGMA GLFGPKGPPG
1560 1570 1580 1590 1600
DIGFKGIQGP RGPPGLMGKE GIVGPLGILG PSGLPGPKGD KGSRGDWGLQ
1610 1620 1630 1640 1650
GPRGPPGPRG RPGPPGPPGG PIQLQQDDLG AAFQTWMDTS GALRPESYSY
1660 1670 1680 1690 1700
PDRLVLDQGG EIFKTLHYLS NLIQSIKTPL GTKENPARVC RDLMDCEQKM
1710 1720 1730 1740 1750
VDGTYWVDPN LGCSSDTIEV SCNFTHGGQT CLKPITASKV EFAISRVQMN
1760 1770 1780 1790 1800
FLHLLSSEVT QHITIHCLNM TVWQEGTGQT PAKQAVRFRA WNGQIFEAGG
1810 1820 1830 1840 1850
QFRPEVSMDG CKVQDGRWHQ TLFTFRTQDP QQLPIISVDN LPPASSGKQY
1860
RLEVGPACFL
Length:1,860
Mass (Da):186,892
Last modified:March 1, 2003 - v1
<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:i5F8CDFAF4B6014EC
GO
Isoform 2 (identifier: Q8IZC6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1033: Missing.

Note: No experimental confirmation available.
Show »
Length:827
Mass (Da):82,801
Checksum:i3941B3A8696704BB
GO
Isoform 3 (identifier: Q8IZC6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     637-703: GPPGLPGLPG...GLPGLSGNPG → VRLSGVCMLL...CIIAHPAPDS
     704-1860: Missing.

Note: No experimental confirmation available.
Show »
Length:703
Mass (Da):73,105
Checksum:i9D3751FE90AE9E0D
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T1U7Q5T1U7_HUMAN
Collagen alpha-1(XXVII) chain
COL27A1
714Annotation 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>
H0YD40H0YD40_HUMAN
Collagen alpha-1(XXVII) chain
COL27A1
485Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB47499 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04878489V → I. Corresponds to variant dbSNP:rs2567707Ensembl.1
Natural variantiVAR_048785120Q → R. Corresponds to variant dbSNP:rs2567706Ensembl.1
Natural variantiVAR_048786265A → T. Corresponds to variant dbSNP:rs34578955Ensembl.1
Natural variantiVAR_048787349R → C. Corresponds to variant dbSNP:rs34973417Ensembl.1
Natural variantiVAR_048788422A → T1 PublicationCorresponds to variant dbSNP:rs2241671Ensembl.1
Natural variantiVAR_048789537I → T1 PublicationCorresponds to variant dbSNP:rs2808770Ensembl.1
Natural variantiVAR_048790611I → F1 PublicationCorresponds to variant dbSNP:rs2567705Ensembl.1
Natural variantiVAR_072564697G → R in STLS. 1 PublicationCorresponds to variant dbSNP:rs140950220EnsemblClinVar.1
Natural variantiVAR_048791720P → R. Corresponds to variant dbSNP:rs35446342Ensembl.1
Natural variantiVAR_0487921116P → Q. Corresponds to variant dbSNP:rs7048607Ensembl.1
Natural variantiVAR_0487931348R → Q. Corresponds to variant dbSNP:rs1631319Ensembl.1
Natural variantiVAR_0487941354R → Q. Corresponds to variant dbSNP:rs10982134Ensembl.1
Natural variantiVAR_0487951808M → V. Corresponds to variant dbSNP:rs3736252Ensembl.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_0303471 – 1033Missing in isoform 2. 1 PublicationAdd BLAST1033
Alternative sequenceiVSP_030348637 – 703GPPGL…SGNPG → VRLSGVCMLLGAPVGDWGIG QVVAPSKDRKRSSLEQGAGY GYILGSSQAPGSSGSAKCII AHPAPDS in isoform 3. 1 PublicationAdd BLAST67
Alternative sequenceiVSP_030349704 – 1860Missing in isoform 3. 1 PublicationAdd BLAST1157

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
AY149237 mRNA Translation: AAN41263.1
AB058773 mRNA Translation: BAB47499.1 Different initiation.
AL356796 Genomic DNA No translation available.
AL445543 Genomic DNA No translation available.
BC080610 mRNA Translation: AAH80610.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6802.1 [Q8IZC6-1]

NCBI Reference Sequences

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RefSeqi
NP_116277.2, NM_032888.3 [Q8IZC6-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.494892
Hs.593318

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000356083; ENSP00000348385; ENSG00000196739 [Q8IZC6-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
85301

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:85301

UCSC genome browser

More...
UCSCi
uc011lxl.3 human [Q8IZC6-1]

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
AY149237 mRNA Translation: AAN41263.1
AB058773 mRNA Translation: BAB47499.1 Different initiation.
AL356796 Genomic DNA No translation available.
AL445543 Genomic DNA No translation available.
BC080610 mRNA Translation: AAH80610.1
CCDSiCCDS6802.1 [Q8IZC6-1]
RefSeqiNP_116277.2, NM_032888.3 [Q8IZC6-1]
UniGeneiHs.494892
Hs.593318

3D structure databases

ProteinModelPortaliQ8IZC6
SMRiQ8IZC6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124464, 1 interactor
ComplexPortaliCPX-1768 Collagen type XXVII trimer
IntActiQ8IZC6, 2 interactors
MINTiQ8IZC6
STRINGi9606.ENSP00000348385

Chemistry databases

ChEMBLiCHEMBL2364188

PTM databases

iPTMnetiQ8IZC6
PhosphoSitePlusiQ8IZC6

Polymorphism and mutation databases

BioMutaiCOL27A1
DMDMi74762504

Proteomic databases

PaxDbiQ8IZC6
PeptideAtlasiQ8IZC6
PRIDEiQ8IZC6
ProteomicsDBi71316
71317 [Q8IZC6-2]
71318 [Q8IZC6-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356083; ENSP00000348385; ENSG00000196739 [Q8IZC6-1]
GeneIDi85301
KEGGihsa:85301
UCSCiuc011lxl.3 human [Q8IZC6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
85301
DisGeNETi85301
EuPathDBiHostDB:ENSG00000196739.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
COL27A1
HGNCiHGNC:22986 COL27A1
HPAiHPA021884
HPA048471
MalaCardsiCOL27A1
MIMi608461 gene
615155 phenotype
neXtProtiNX_Q8IZC6
OpenTargetsiENSG00000196739
Orphaneti438117 Steel syndrome
PharmGKBiPA134990818

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG410XNMM LUCA
GeneTreeiENSGT00940000163466
HOGENOMiHOG000085654
HOVERGENiHBG098141
InParanoidiQ8IZC6
KOiK19721
OMAiSFACHLA
OrthoDBiEOG091G00WS
PhylomeDBiQ8IZC6
TreeFamiTF344135

Enzyme and pathway databases

ReactomeiR-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-8874081 MET activates PTK2 signaling
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
COL27A1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Collagen,_type_XXVII,_alpha_1

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

More...
GenomeRNAii
85301

Protein Ontology

More...
PROi
PR:Q8IZC6

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000196739 Expressed in 202 organ(s), highest expression level in tibia
CleanExiHS_COL27A1
ExpressionAtlasiQ8IZC6 baseline and differential
GenevisibleiQ8IZC6 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, 2 hits
PF01391 Collagen, 13 hits
ProDomiView protein in ProDom or Entries sharing at least one domain
PD002078 Fib_collagen_C, 1 hit
SMARTiView protein in SMART
SM00038 COLFI, 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...

<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 nameiCORA1_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: Q8IZC6
Secondary accession number(s): Q66K43, Q96JF7
<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 15, 2008
Last sequence update: March 1, 2003
Last modified: December 5, 2018
This is version 149 of the entry and version 1 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, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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