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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-Experimental evidence at transcript leveli

Functioni

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169436-MONOMER.
ReactomeiR-HSA-1650814. Collagen biosynthesis and modifying enzymes.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-1(XXII) chain
Gene namesi
Name:COL22A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:22989. COL22A1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi169044.
OpenTargetsiENSG00000169436.
PharmGKBiPA134914705.

Polymorphism and mutation databases

BioMutaiCOL22A1.
DMDMi296434458.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
ChainiPRO_000031761528 – 1626Collagen alpha-1(XXII) chainAdd BLAST1599

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi375N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8NFW1.
PeptideAtlasiQ8NFW1.
PRIDEiQ8NFW1.

PTM databases

iPTMnetiQ8NFW1.
PhosphoSitePlusiQ8NFW1.

Expressioni

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

BgeeiENSG00000169436.
CleanExiHS_COL22A1.
ExpressionAtlasiQ8NFW1. baseline and differential.
GenevisibleiQ8NFW1. HS.

Organism-specific databases

HPAiHPA024830.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000303153.

Structurei

3D structure databases

ProteinModelPortaliQ8NFW1.
SMRiQ8NFW1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Compositional biasi161 – 165Poly-Ala5
Compositional biasi451 – 1607Pro-richAdd BLAST1157
Compositional biasi481 – 1603Gly-richAdd BLAST1123

Sequence similaritiesi

Contains 16 collagen-like domains.Curated
Contains 1 laminin G-like domain.Curated
Contains 1 VWFA domain.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiKOG1217. Eukaryota.
KOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00840000129701.
HOGENOMiHOG000085653.
HOVERGENiHBG106599.
InParanoidiQ8NFW1.
KOiK16630.
OMAiNCALGGQ.
OrthoDBiEOG091G002N.
PhylomeDBiQ8NFW1.
TreeFamiTF332934.

Family and domain databases

Gene3Di3.40.50.410. 1 hit.
InterProiIPR008160. Collagen.
IPR013320. ConA-like_dom.
IPR001791. Laminin_G.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 13 hits.
PF00092. VWA. 1 hit.
[Graphical view]
SMARTiSM00210. TSPN. 1 hit.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
SSF53300. SSF53300. 1 hit.
PROSITEiPS50234. VWFA. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti753 – 767GKDGP…PPGTK → CILAAKTAPGLKQLN in AAH42075 (PubMed:16421571).CuratedAdd BLAST15

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038562320S → G.2 PublicationsCorresponds to variant rs2292927dbSNPEnsembl.1
Natural variantiVAR_038563703P → T.Corresponds to variant rs10111520dbSNPEnsembl.1
Natural variantiVAR_038564938A → D.1 PublicationCorresponds to variant rs4909444dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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

STRINGi9606.ENSP00000303153.

PTM databases

iPTMnetiQ8NFW1.
PhosphoSitePlusiQ8NFW1.

Polymorphism and mutation databases

BioMutaiCOL22A1.
DMDMi296434458.

Proteomic databases

PaxDbiQ8NFW1.
PeptideAtlasiQ8NFW1.
PRIDEiQ8NFW1.

Protocols and materials databases

DNASUi169044.
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

CTDi169044.
DisGeNETi169044.
GeneCardsiCOL22A1.
H-InvDBHIX0034283.
HGNCiHGNC:22989. COL22A1.
HPAiHPA024830.
MIMi610026. gene.
neXtProtiNX_Q8NFW1.
OpenTargetsiENSG00000169436.
PharmGKBiPA134914705.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1217. Eukaryota.
KOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00840000129701.
HOGENOMiHOG000085653.
HOVERGENiHBG106599.
InParanoidiQ8NFW1.
KOiK16630.
OMAiNCALGGQ.
OrthoDBiEOG091G002N.
PhylomeDBiQ8NFW1.
TreeFamiTF332934.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169436-MONOMER.
ReactomeiR-HSA-1650814. Collagen biosynthesis and modifying enzymes.

Miscellaneous databases

GenomeRNAii169044.
PROiQ8NFW1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169436.
CleanExiHS_COL22A1.
ExpressionAtlasiQ8NFW1. baseline and differential.
GenevisibleiQ8NFW1. HS.

Family and domain databases

Gene3Di3.40.50.410. 1 hit.
InterProiIPR008160. Collagen.
IPR013320. ConA-like_dom.
IPR001791. Laminin_G.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 13 hits.
PF00092. VWA. 1 hit.
[Graphical view]
SMARTiSM00210. TSPN. 1 hit.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
SSF53300. SSF53300. 1 hit.
PROSITEiPS50234. VWFA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCOMA1_HUMAN
AccessioniPrimary (citable) accession number: Q8NFW1
Secondary accession number(s): B7ZMH0, C9K0G4, Q8IVT9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 121 of the entry and version 2 of the sequence. [Complete history]
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.

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.