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Entry version 136 (13 Feb 2019)
Sequence version 2 (18 May 2010)
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Protein

Collagen alpha-1(XXII) chain

Gene

COL22A1

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

Annotation score:4 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

Acts as a cell adhesion ligand for skin epithelial cells and fibroblasts.

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

  • extracellular matrix structural constituent Source: GO_Central

GO - Biological processi

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(XXII) 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:COL22A1
<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 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000169436.16

Human Gene Nomenclature Database

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HGNCi
HGNC:22989 COL22A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610026 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NFW1

<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

<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

More...
DisGeNETi
169044

Open Targets

More...
OpenTargetsi
ENSG00000169436

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134914705

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COL22A1

Domain mapping of disease mutations (DMDM)

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DMDMi
296434458

<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 – 27Sequence analysisAdd BLAST27
<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_000031761528 – 1626Collagen alpha-1(XXII) chainAdd BLAST1599

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>Glycosylationi375N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8NFW1

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

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PaxDbi
Q8NFW1

PeptideAtlas

More...
PeptideAtlasi
Q8NFW1

PRoteomics IDEntifications database

More...
PRIDEi
Q8NFW1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
73370
73371 [Q8NFW1-2]
73372 [Q8NFW1-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NFW1

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

More...
PhosphoSitePlusi
Q8NFW1

<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

Restrictive expression is observed at tissue junctions such as the myotendinous junction in skeletal and heart muscle, the articular cartilage-synovial fluid junction, or the border between the anagen hair follicle and the dermis in the skin. It is deposited in the basement membrane zone of the myotendinous junction and the hair follicle and associated with the extrafibrillar matrix in cartilage.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000169436 Expressed in 98 organ(s), highest expression level in pituitary gland

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8NFW1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NFW1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA024830

<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

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-1763 Collagen type XXII trimer

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000303153

<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

More...
ProteinModelPortali
Q8NFW1

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

More...
SMRi
Q8NFW1

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

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

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>Domaini38 – 213VWFAPROSITE-ProRule annotationAdd BLAST176
Domaini239 – 427Laminin G-likeAdd BLAST189
Domaini481 – 520Collagen-like 1Add BLAST40
Domaini526 – 565Collagen-like 2Add BLAST40
Domaini566 – 625Collagen-like 3Add BLAST60
Domaini657 – 708Collagen-like 4Add BLAST52
Domaini714 – 773Collagen-like 5Add BLAST60
Domaini774 – 833Collagen-like 6Add BLAST60
Domaini868 – 922Collagen-like 7Add BLAST55
Domaini925 – 984Collagen-like 8Add BLAST60
Domaini1047 – 1095Collagen-like 9Add BLAST49
Domaini1118 – 1155Collagen-like 10Add BLAST38
Domaini1156 – 1215Collagen-like 11Add BLAST60
Domaini1249 – 1308Collagen-like 12Add BLAST60
Domaini1315 – 1374Collagen-like 13Add BLAST60
Domaini1387 – 1446Collagen-like 14Add BLAST60
Domaini1495 – 1550Collagen-like 15Add BLAST56
Domaini1575 – 1604Collagen-like 16Add BLAST30

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 biasi161 – 165Poly-Ala5
Compositional biasi451 – 1607Pro-richAdd BLAST1157
Compositional biasi481 – 1603Gly-richAdd BLAST1123

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

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1217 Eukaryota
KOG3544 Eukaryota
ENOG410XNMM LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159308

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000085653

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG106599

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8NFW1

KEGG Orthology (KO)

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KOi
K16630

Identification of Orthologs from Complete Genome Data

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OMAi
NPGPHGQ

Database of Orthologous Groups

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OrthoDBi
1295141at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8NFW1

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

More...
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, 13 hits
PF00092 VWA, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NFW1-1) [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
MAGLRGNAVA GLLWMLLLWS GGGGCQAQRA GCKSVHYDLV FLLDTSSSVG
60 70 80 90 100
KEDFEKVRQW VANLVDTFEV GPDRTRVGVV RYSDRPTTAF ELGLFGSQEE
110 120 130 140 150
VKAAARRLAY HGGNTNTGDA LRYITARSFS PHAGGRPRDR AYKQVAILLT
160 170 180 190 200
DGRSQDLVLD AAAAAHRAGI RIFAVGVGEA LKEELEEIAS EPKSAHVFHV
210 220 230 240 250
SDFNAIDKIR GKLRRRLCEN VLCPSVRVEG DRFKHTNGGT KEITGFDLMD
260 270 280 290 300
LFSVKEILGK RENGAQSSYV RMGSFPVVQS TEDVFPQGLP DEYAFVTTFR
310 320 330 340 350
FRKTSRKEDW YIWQVIDQYS IPQVSIRLDG ENKAVEYNAV GAMKDAVRVV
360 370 380 390 400
FRGSRVNDLF DRDWHKMALS IQAQNVSLHI DCALVQTLPI EERENIDIQG
410 420 430 440 450
KTVIGKRLYD SVPIDFDLQR IVIYCDSRHA ELETCCDIPS GPCQVTVVTE
460 470 480 490 500
PPPPPPPQRP PTPGSEQIGF LKTINCSCPA GEKGEMGVAG PMGLPGPKGD
510 520 530 540 550
IGAIGPVGAP GPKGEKGDVG IGPFGQGEKG EKGSLGLPGP PGRDGSKGMR
560 570 580 590 600
GEPGELGEPG LPGEVGMRGP QGPPGLPGPP GRVGAPGLQG ERGEKGTRGE
610 620 630 640 650
KGERGLDGFP GKPGDTGQQG RPGPSGVAGP QGEKGDVGPA GPPGVPGSVV
660 670 680 690 700
QQEGLKGEQG APGPRGHQGA PGPPGARGPI GPEGRDGPPG LQGLRGKKGD
710 720 730 740 750
MGPPGIPGLL GLQGPPGPPG VPGPPGPGGS PGLPGEIGFP GKPGPPGPTG
760 770 780 790 800
PPGKDGPNGP PGPPGTKGEP GERGEDGLPG KPGLRGEIGE QGLAGRPGEK
810 820 830 840 850
GEAGLPGAPG FPGVRGEKGD QGEKGELGLP GLKGDRGEKG EAGPAGPPGL
860 870 880 890 900
PGTTSLFTPH PRMPGEQGPK GEKGDPGLPG EPGLQGRPGE LGPQGPTGPP
910 920 930 940 950
GAKGQEGAHG APGAAGNPGA PGHVGAPGPS GPPGSVGAPG LRGTPGKDGE
960 970 980 990 1000
RGEKGAAGEE GSPGPVGPRG DPGAPGLPGP PGKGKDGEPG LRGSPGLPGP
1010 1020 1030 1040 1050
LGTKAACGKV RGSENCALGG QCVKGDRGAP GIPGSPGSRG DPGIGVAGPP
1060 1070 1080 1090 1100
GPSGPPGDKG SPGSRGLPGF PGPQGPAGRD GAPGNPGERG PPGKPGLSSL
1110 1120 1130 1140 1150
LSPGDINLLA KDVCNDCPPG PPGLPGLPGF KGDKGVPGKP GREGTEGKKG
1160 1170 1180 1190 1200
EAGPPGLPGP PGIAGPQGSQ GERGADGEVG QKGDQGHPGV PGFMGPPGNP
1210 1220 1230 1240 1250
GPPGADGIAG AAGPPGIQGS PGKEGPPGPQ GPSGLPGIPG EEGKEGRDGK
1260 1270 1280 1290 1300
PGPPGEPGKA GEPGLPGPEG ARGPPGFKGH TGDSGAPGPR GESGAMGLPG
1310 1320 1330 1340 1350
QEGLPGKDGD TGPTGPQGPQ GPRGPPGKNG SPGSPGEPGP SGTPGQKGSK
1360 1370 1380 1390 1400
GENGSPGLPG FLGPRGPPGE PGEKGVPGKE GVPGKPGEPG FKGERGDPGI
1410 1420 1430 1440 1450
KGDKGPPGGK GQPGDPGIPG HKGHTGLMGP QGLPGENGPV GPPGPPGQPG
1460 1470 1480 1490 1500
FPGLRGESPS METLRRLIQE ELGKQLETRL AYLLAQMPPA YMKSSQGRPG
1510 1520 1530 1540 1550
PPGPPGKDGL PGRAGPMGEP GRPGQGGLEG PSGPIGPKGE RGAKGDPGAP
1560 1570 1580 1590 1600
GVGLRGEMGP PGIPGQPGEP GYAKDGLPGI PGPQGETGPA GHPGLPGPPG
1610 1620
PPGQCDPSQC AYFASLAARP GNVKGP
Length:1,626
Mass (Da):161,145
Last modified:May 18, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i91018ABA2DD670EC
GO
Isoform 2 (identifier: Q8NFW1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1005-1024: Missing.

Note: No experimental confirmation available.
Show »
Length:1,606
Mass (Da):159,212
Checksum:i29DC16D688B93F35
GO
Isoform 3 (identifier: Q8NFW1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     341-627: Missing.
     1005-1024: Missing.

Note: No experimental confirmation available.
Show »
Length:1,319
Mass (Da):129,678
Checksum:i249B873904A41A55
GO

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

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YAX7H0YAX7_HUMAN
Collagen alpha-1(XXII) chain
COL22A1
65Annotation 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 conflicti753 – 767GKDGP…PPGTK → CILAAKTAPGLKQLN in AAH42075 (PubMed:16421571).CuratedAdd BLAST15

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_038562320S → G2 PublicationsCorresponds to variant dbSNP:rs2292927Ensembl.1
Natural variantiVAR_038563703P → T. Corresponds to variant dbSNP:rs10111520Ensembl.1
Natural variantiVAR_038564938A → D1 PublicationCorresponds to variant dbSNP:rs4909444Ensembl.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_038200341 – 627Missing in isoform 3. 1 PublicationAdd BLAST287
Alternative sequenceiVSP_0310871005 – 1024Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST20

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

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DDBJi
Links Updated
AF406780 mRNA Translation: AAN03620.1
AC068476 Genomic DNA No translation available.
AC105130 Genomic DNA No translation available.
AC115720 Genomic DNA No translation available.
AP006262 Genomic DNA No translation available.
BC042075 mRNA Translation: AAH42075.1
BC144535 mRNA Translation: AAI44536.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS6376.1 [Q8NFW1-1]

NCBI Reference Sequences

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RefSeqi
NP_690848.1, NM_152888.2 [Q8NFW1-1]
XP_011515185.1, XM_011516883.2 [Q8NFW1-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.117169

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000303045; ENSP00000303153; ENSG00000169436 [Q8NFW1-1]
ENST00000435777; ENSP00000387655; ENSG00000169436 [Q8NFW1-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
169044

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:169044

UCSC genome browser

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UCSCi
uc003yvd.3 human [Q8NFW1-1]

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
AF406780 mRNA Translation: AAN03620.1
AC068476 Genomic DNA No translation available.
AC105130 Genomic DNA No translation available.
AC115720 Genomic DNA No translation available.
AP006262 Genomic DNA No translation available.
BC042075 mRNA Translation: AAH42075.1
BC144535 mRNA Translation: AAI44536.1
CCDSiCCDS6376.1 [Q8NFW1-1]
RefSeqiNP_690848.1, NM_152888.2 [Q8NFW1-1]
XP_011515185.1, XM_011516883.2 [Q8NFW1-2]
UniGeneiHs.117169

3D structure databases

ProteinModelPortaliQ8NFW1
SMRiQ8NFW1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

ComplexPortaliCPX-1763 Collagen type XXII trimer
STRINGi9606.ENSP00000303153

PTM databases

iPTMnetiQ8NFW1
PhosphoSitePlusiQ8NFW1

Polymorphism and mutation databases

BioMutaiCOL22A1
DMDMi296434458

Proteomic databases

jPOSTiQ8NFW1
PaxDbiQ8NFW1
PeptideAtlasiQ8NFW1
PRIDEiQ8NFW1
ProteomicsDBi73370
73371 [Q8NFW1-2]
73372 [Q8NFW1-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
169044
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303045; ENSP00000303153; ENSG00000169436 [Q8NFW1-1]
ENST00000435777; ENSP00000387655; ENSG00000169436 [Q8NFW1-3]
GeneIDi169044
KEGGihsa:169044
UCSCiuc003yvd.3 human [Q8NFW1-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
169044
DisGeNETi169044
EuPathDBiHostDB:ENSG00000169436.16

GeneCards: human genes, protein and diseases

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GeneCardsi
COL22A1

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0034283
HGNCiHGNC:22989 COL22A1
HPAiHPA024830
MIMi610026 gene
neXtProtiNX_Q8NFW1
OpenTargetsiENSG00000169436
PharmGKBiPA134914705

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1217 Eukaryota
KOG3544 Eukaryota
ENOG410XNMM LUCA
GeneTreeiENSGT00940000159308
HOGENOMiHOG000085653
HOVERGENiHBG106599
InParanoidiQ8NFW1
KOiK16630
OMAiNPGPHGQ
OrthoDBi1295141at2759
PhylomeDBiQ8NFW1
TreeFamiTF332934

Enzyme and pathway databases

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

Miscellaneous databases

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

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ChiTaRSi
COL22A1 human

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

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GenomeRNAii
169044

Protein Ontology

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PROi
PR:Q8NFW1

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000169436 Expressed in 98 organ(s), highest expression level in pituitary gland
ExpressionAtlasiQ8NFW1 baseline and differential
GenevisibleiQ8NFW1 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, 13 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
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<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 nameiCOMA1_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: Q8NFW1
Secondary accession number(s): B7ZMH0, C9K0G4, Q8IVT9
<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: May 18, 2010
Last modified: February 13, 2019
This is version 136 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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
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