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Protein

Collagen alpha-1(XXI) chain

Gene

COL21A1

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 transcript 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

<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

  • growth plate cartilage chondrocyte morphogenesis Source: GO_Central

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
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(XXI) 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:COL21A1
Synonyms:COL1AL
ORF Names:FP633
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000124749.16

Human Gene Nomenclature Database

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HGNCi
HGNC:17025 COL21A1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610002 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q96P44

<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

Cytoplasm, 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

Organism-specific databases

DisGeNET

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DisGeNETi
81578

Open Targets

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OpenTargetsi
ENSG00000124749

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26714

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
COL21A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74752071

<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 – 22Sequence analysisAdd BLAST22
<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_000031761323 – 957Collagen alpha-1(XXI) chainAdd BLAST935

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>Glycosylationi62N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

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

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PaxDbi
Q96P44

PeptideAtlas

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PeptideAtlasi
Q96P44

PRoteomics IDEntifications database

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PRIDEi
Q96P44

ProteomicsDB human proteome resource

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ProteomicsDBi
77615
77616 [Q96P44-2]
77617 [Q96P44-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96P44

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

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PhosphoSitePlusi
Q96P44

<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

Highly expressed in lymph node, jejunum, pancreas, stomach, trachea, testis, uterus and placenta; moderately expressed in brain, colon, lung, prostate, spinal cord, salivary gland and vascular smooth-muscle cells and very weakly expressed in heart, liver, kidney, bone marrow, spleen, thymus, skeletal muscle, adrenal gland and peripheral leukocytes. Expression in heart was higher in the right ventricle and atrium than in the left ventricle and atrium.2 Publications

<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

Highest expression observed at the fetal stage. Expressed by smooth-muscle cells in the artery wall in a PDGF-dependent way.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Stimulated by PDGF/platelet-derived growth factor.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000124749 Expressed in 192 organ(s), highest expression level in metanephros

CleanEx database of gene expression profiles

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CleanExi
HS_COL21A1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96P44 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96P44 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA031212

<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
123538, 5 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1762 Collagen type XXI trimer

STRING: functional protein association networks

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STRINGi
9606.ENSP00000244728

<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
Q96P44

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

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SMRi
Q96P44

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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>Domaini37 – 211VWFAPROSITE-ProRule annotationAdd BLAST175
Domaini230 – 412Laminin G-likeAdd BLAST183
Domaini448 – 500Collagen-like 1Add BLAST53
Domaini501 – 542Collagen-like 2Add BLAST42
Domaini543 – 594Collagen-like 3Add BLAST52
Domaini681 – 733Collagen-like 4Add BLAST53
Domaini734 – 787Collagen-like 5Add BLAST54
Domaini825 – 882Collagen-like 6Add BLAST58
Domaini884 – 934Collagen-like 7Add BLAST51

<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

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eggNOGi
ENOG410IS78 Eukaryota
ENOG41100RI LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000162318

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG106599

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96P44

KEGG Orthology (KO)

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KOi
K16629

Identification of Orthologs from Complete Genome Data

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OMAi
DGLMGPA

Database of Orthologous Groups

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OrthoDBi
EOG091G002N

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96P44

TreeFam database of animal gene trees

More...
TreeFami
TF332934

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.50.410, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR008160 Collagen
IPR013320 ConA-like_dom_sf
IPR001791 Laminin_G
IPR002035 VWF_A
IPR036465 vWFA_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01391 Collagen, 6 hits
PF00092 VWA, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00210 TSPN, 1 hit
SM00327 VWA, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49899 SSF49899, 1 hit
SSF53300 SSF53300, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50234 VWFA, 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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96P44-1) [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
MAHYITFLCM VLVLLLQNSV LAEDGEVRSS CRTAPTDLVF ILDGSYSVGP
60 70 80 90 100
ENFEIVKKWL VNITKNFDIG PKFIQVGVVQ YSDYPVLEIP LGSYDSGEHL
110 120 130 140 150
TAAVESILYL GGNTKTGKAI QFALDYLFAK SSRFLTKIAV VLTDGKSQDD
160 170 180 190 200
VKDAAQAARD SKITLFAIGV GSETEDAELR AIANKPSSTY VFYVEDYIAI
210 220 230 240 250
SKIREVMKQK LCEESVCPTR IPVAARDERG FDILLGLDVN KKVKKRIQLS
260 270 280 290 300
PKKIKGYEVT SKVDLSELTS NVFPEGLPPS YVFVSTQRFK VKKIWDLWRI
310 320 330 340 350
LTIDGRPQIA VTLNGVDKIL LFTTTSVING SQVVTFANPQ VKTLFDEGWH
360 370 380 390 400
QIRLLVTEQD VTLYIDDQQI ENKPLHPVLG ILINGQTQIG KYSGKEETVQ
410 420 430 440 450
FDVQKLRIYC DPEQNNRETA CEIPGFNGEC LNGPSDVGST PAPCICPPGK
460 470 480 490 500
PGLQGPKGDP GLPGNPGYPG QPGQDGKPGY QGIAGTPGVP GSPGIQGARG
510 520 530 540 550
LPGYKGEPGR DGDKGDRGLP GFPGLHGMPG SKGEMGAKGD KGSPGFYGKK
560 570 580 590 600
GAKGEKGNAG FPGLPGPAGE PGRHGKDGLM GSPGFKGEAG SPGAPGQDGT
610 620 630 640 650
RGEPGIPGFP GNRGLMGQKG EIGPPGQQGK KGAPGMPGLM GSNGSPGQPG
660 670 680 690 700
TPGSKGSKGE PGIQGMPGAS GLKGEPGATG SPGEPGYMGL PGIQGKKGDK
710 720 730 740 750
GNQGEKGIQG QKGENGRQGI PGQQGIQGHH GAKGERGEKG EPGVRGAIGS
760 770 780 790 800
KGESGVDGLM GPAGPKGQPG DPGPQGPPGL DGKPGREFSE QFIRQVCTDV
810 820 830 840 850
IRAQLPVLLQ SGRIRNCDHC LSQHGSPGIP GPPGPIGPEG PRGLPGLPGR
860 870 880 890 900
DGVPGLVGVP GRPGVRGLKG LPGRNGEKGS QGFGYPGEQG PPGPPGPEGP
910 920 930 940 950
PGISKEGPPG DPGLPGKDGD HGKPGIQGQP GPPGICDPSL CFSVIARRDP

FRKGPNY
Length:957
Mass (Da):99,369
Last modified:December 1, 2001 - 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:i4C5CDF5E6656A675
GO
Isoform 2 (identifier: Q96P44-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-600: Missing.
     601-604: RGEP → MIAS
     803-836: Missing.

Note: No experimental confirmation available.
Show »
Length:323
Mass (Da):31,650
Checksum:i71FB0C48E750734C
GO
Isoform 3 (identifier: Q96P44-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     427-429: Missing.

Note: No experimental confirmation available.
Show »
Length:954
Mass (Da):99,068
Checksum:iC3514675DDACDF23
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GZK2F5GZK2_HUMAN
Collagen alpha-1(XXI) chain
COL21A1
956Annotation 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>
A6PVD9A6PVD9_HUMAN
Collagen alpha-1(XXI) chain
COL21A1
136Annotation 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>
H0YDH6H0YDH6_HUMAN
Collagen alpha-1(XXI) chain
COL21A1
79Annotation 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>
H0Y4C9H0Y4C9_HUMAN
Collagen alpha-1(XXI) chain
COL21A1
125Annotation 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 AAH45597 differs from that shown. Reason: Frameshift at position 478.Curated

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 conflicti129A → D in CAB66559 (PubMed:11230166).Curated1
Sequence conflicti780L → W in AAH45597 (PubMed:15489334).Curated1
Sequence conflicti802R → K in AAH45597 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_038555277L → P. Corresponds to variant dbSNP:rs2764043Ensembl.1
Natural variantiVAR_038556343T → M1 PublicationCorresponds to variant dbSNP:rs35471617Ensembl.1
Natural variantiVAR_038557495I → T. Corresponds to variant dbSNP:rs35583895Ensembl.1
Natural variantiVAR_038558560G → S. Corresponds to variant dbSNP:rs9382581Ensembl.1
Natural variantiVAR_038559747A → D. Corresponds to variant dbSNP:rs9464337Ensembl.1
Natural variantiVAR_038560821L → P. Corresponds to variant dbSNP:rs12209452Ensembl.1
Natural variantiVAR_038561827P → A. Corresponds to variant dbSNP:rs1555131Ensembl.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_0310831 – 600Missing in isoform 2. 1 PublicationAdd BLAST600
Alternative sequenceiVSP_031084427 – 429Missing in isoform 3. 1 Publication3
Alternative sequenceiVSP_031085601 – 604RGEP → MIAS in isoform 2. 1 Publication4
Alternative sequenceiVSP_031086803 – 836Missing in isoform 2. 1 PublicationAdd BLAST34

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF414088 mRNA Translation: AAL02227.1
AF330693 mRNA Translation: AAL50033.1
AF438327 Genomic DNA Translation: AAL86699.1
AL136624 mRNA Translation: CAB66559.1
AF370383 mRNA Translation: AAQ15219.1
AK313398 mRNA Translation: BAG36196.1
AL031782 Genomic DNA No translation available.
AL034452 Genomic DNA No translation available.
AL513530 Genomic DNA No translation available.
BC045597 mRNA Translation: AAH45597.1 Frameshift.
BC126108 mRNA Translation: AAI26109.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS55025.1 [Q96P44-1]
CCDS83099.1 [Q96P44-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001305680.1, NM_001318751.1 [Q96P44-1]
NP_001305681.1, NM_001318752.1 [Q96P44-3]
NP_001305682.1, NM_001318753.1
NP_001305683.1, NM_001318754.1
NP_110447.2, NM_030820.3 [Q96P44-1]
XP_011513226.1, XM_011514924.2 [Q96P44-1]
XP_011513227.1, XM_011514925.2 [Q96P44-1]
XP_011513228.1, XM_011514926.1 [Q96P44-1]
XP_011513229.1, XM_011514927.1 [Q96P44-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.47629

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000244728; ENSP00000244728; ENSG00000124749 [Q96P44-1]
ENST00000370819; ENSP00000359855; ENSG00000124749 [Q96P44-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
81578

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:81578

UCSC genome browser

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UCSCi
uc003pcs.4 human [Q96P44-1]

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
AF414088 mRNA Translation: AAL02227.1
AF330693 mRNA Translation: AAL50033.1
AF438327 Genomic DNA Translation: AAL86699.1
AL136624 mRNA Translation: CAB66559.1
AF370383 mRNA Translation: AAQ15219.1
AK313398 mRNA Translation: BAG36196.1
AL031782 Genomic DNA No translation available.
AL034452 Genomic DNA No translation available.
AL513530 Genomic DNA No translation available.
BC045597 mRNA Translation: AAH45597.1 Frameshift.
BC126108 mRNA Translation: AAI26109.1
CCDSiCCDS55025.1 [Q96P44-1]
CCDS83099.1 [Q96P44-3]
RefSeqiNP_001305680.1, NM_001318751.1 [Q96P44-1]
NP_001305681.1, NM_001318752.1 [Q96P44-3]
NP_001305682.1, NM_001318753.1
NP_001305683.1, NM_001318754.1
NP_110447.2, NM_030820.3 [Q96P44-1]
XP_011513226.1, XM_011514924.2 [Q96P44-1]
XP_011513227.1, XM_011514925.2 [Q96P44-1]
XP_011513228.1, XM_011514926.1 [Q96P44-1]
XP_011513229.1, XM_011514927.1 [Q96P44-1]
UniGeneiHs.47629

3D structure databases

ProteinModelPortaliQ96P44
SMRiQ96P44
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123538, 5 interactors
ComplexPortaliCPX-1762 Collagen type XXI trimer
STRINGi9606.ENSP00000244728

PTM databases

iPTMnetiQ96P44
PhosphoSitePlusiQ96P44

Polymorphism and mutation databases

BioMutaiCOL21A1
DMDMi74752071

Proteomic databases

PaxDbiQ96P44
PeptideAtlasiQ96P44
PRIDEiQ96P44
ProteomicsDBi77615
77616 [Q96P44-2]
77617 [Q96P44-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000244728; ENSP00000244728; ENSG00000124749 [Q96P44-1]
ENST00000370819; ENSP00000359855; ENSG00000124749 [Q96P44-3]
GeneIDi81578
KEGGihsa:81578
UCSCiuc003pcs.4 human [Q96P44-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
81578
DisGeNETi81578
EuPathDBiHostDB:ENSG00000124749.16

GeneCards: human genes, protein and diseases

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GeneCardsi
COL21A1
HGNCiHGNC:17025 COL21A1
HPAiHPA031212
MIMi610002 gene
neXtProtiNX_Q96P44
OpenTargetsiENSG00000124749
PharmGKBiPA26714

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IS78 Eukaryota
ENOG41100RI LUCA
GeneTreeiENSGT00940000162318
HOVERGENiHBG106599
InParanoidiQ96P44
KOiK16629
OMAiDGLMGPA
OrthoDBiEOG091G002N
PhylomeDBiQ96P44
TreeFamiTF332934

Enzyme and pathway databases

ReactomeiR-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-8948216 Collagen chain trimerization

Miscellaneous databases

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

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GenomeRNAii
81578

Protein Ontology

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PROi
PR:Q96P44

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000124749 Expressed in 192 organ(s), highest expression level in metanephros
CleanExiHS_COL21A1
ExpressionAtlasiQ96P44 baseline and differential
GenevisibleiQ96P44 HS

Family and domain databases

Gene3Di3.40.50.410, 1 hit
InterProiView protein in InterPro
IPR008160 Collagen
IPR013320 ConA-like_dom_sf
IPR001791 Laminin_G
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PfamiView protein in Pfam
PF01391 Collagen, 6 hits
PF00092 VWA, 1 hit
SMARTiView protein in SMART
SM00210 TSPN, 1 hit
SM00327 VWA, 1 hit
SUPFAMiSSF49899 SSF49899, 1 hit
SSF53300 SSF53300, 1 hit
PROSITEiView protein in PROSITE
PS50234 VWFA, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiCOLA1_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: Q96P44
Secondary accession number(s): A6NIX5
, B2R8J9, Q49A51, Q71RF4, Q8WXV8, Q9H0V3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: December 1, 2001
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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  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
UniProt is an ELIXIR core data resource
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