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Protein

Collagen alpha-1(XXIII) chain

Gene

COL23A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Enzyme and pathway databases

ReactomeiR-HSA-1442490. Collagen degradation.
R-HSA-1650814. Collagen biosynthesis and modifying enzymes.
R-HSA-216083. Integrin cell surface interactions.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-1(XXIII) chain
Gene namesi
Name:COL23A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:22990. COL23A1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 34CytoplasmicSequence analysisAdd BLAST34
Transmembranei35 – 56Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST22
Topological domaini57 – 540ExtracellularSequence analysisAdd BLAST484

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi91522.
OpenTargetsiENSG00000050767.
PharmGKBiPA134899251.

Polymorphism and mutation databases

BioMutaiCOL23A1.
DMDMi74723551.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002452261 – 540Collagen alpha-1(XXIII) chainAdd BLAST540

Post-translational modificationi

Undergoes proteolytic cleavage by furin protease to yield a 60 kDa soluble form that forms a homotrimer and exhibits a low affinity interaction with heparin.By similarity

Proteomic databases

EPDiQ86Y22.
PaxDbiQ86Y22.
PeptideAtlasiQ86Y22.
PRIDEiQ86Y22.

PTM databases

iPTMnetiQ86Y22.
PhosphoSitePlusiQ86Y22.

Expressioni

Gene expression databases

BgeeiENSG00000050767.
CleanExiHS_COL23A1.
ExpressionAtlasiQ86Y22. baseline and differential.
GenevisibleiQ86Y22. HS.

Organism-specific databases

HPAiHPA067824.

Interactioni

Subunit structurei

Homotrimer.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
EXOSC8Q96B263EBI-373279,EBI-371922

Protein-protein interaction databases

BioGridi124839. 2 interactors.
IntActiQ86Y22. 2 interactors.
STRINGi9606.ENSP00000375069.

Structurei

3D structure databases

ProteinModelPortaliQ86Y22.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini124 – 243Collagen-like 1Add BLAST120
Domaini251 – 305Collagen-like 2Add BLAST55
Domaini321 – 380Collagen-like 3Add BLAST60
Domaini412 – 460Collagen-like 4Add BLAST49
Domaini463 – 522Collagen-like 5Add BLAST60

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi2 – 536Gly-richAdd BLAST535

Sequence similaritiesi

Contains 5 collagen-like domains.Curated

Keywords - Domaini

Collagen, Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00840000129701.
HOGENOMiHOG000085653.
HOVERGENiHBG004933.
InParanoidiQ86Y22.
OMAiDDGMPSQ.
OrthoDBiEOG091G0G3Y.
PhylomeDBiQ86Y22.
TreeFamiTF338175.

Family and domain databases

InterProiIPR008160. Collagen.
[Graphical view]
PfamiPF01391. Collagen. 7 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86Y22-1) [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
MGPGERAGGG GDAGKGNAAG GGGGGRSATT AGSRAVSALC LLLSVGSAAA
60 70 80 90 100
CLLLGVQAAA LQGRVAALEE ERELLRRAGP PGALDAWAEP HLERLLREKL
110 120 130 140 150
DGLAKIRTAR EAPSECVCPP GPPGRRGKPG RRGDPGPPGQ SGRDGYPGPL
160 170 180 190 200
GLDGKPGLPG PKGEKGAPGD FGPRGDQGQD GAAGPPGPPG PPGARGPPGD
210 220 230 240 250
TGKDGPRGAQ GPAGPKGEPG QDGEMGPKGP PGPKGEPGVP GKKGDDGTPS
260 270 280 290 300
QPGPPGPKGE PGSMGPRGEN GVDGAPGPKG EPGHRGTDGA AGPRGAPGLK
310 320 330 340 350
GEQGDTVVID YDGRILDALK GPPGPQGPPG PPGIPGAKGE LGLPGAPGID
360 370 380 390 400
GEKGPKGQKG DPGEPGPAGL KGEAGEMGLS GLPGADGLKG EKGESASDSL
410 420 430 440 450
QESLAQLIVE PGPPGPPGPP GPMGLQGIQG PKGLDGAKGE KGASGERGPS
460 470 480 490 500
GLPGPVGPPG LIGLPGTKGE KGRPGEPGLD GFPGPRGEKG DRSERGEKGE
510 520 530 540
RGVPGRKGVK GQKGEPGPPG LDQPCPVGPD GLPVPGCWHK
Length:540
Mass (Da):51,944
Last modified:June 1, 2003 - v1
Checksum:iD64D3CA50F729297
GO
Isoform 2 (identifier: Q86Y22-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-27: Missing.
     28-98: ATTAGSRAVS...EPHLERLLRE → MESRSGIQAG...GTNSRHTLTV
     140-148: Missing.
     296-345: APGLKGEQGD...GAKGELGLPG → DVRDPGLGSV...RAGRHSGDRL
     346-540: Missing.

Note: No experimental confirmation available.
Show »
Length:309
Mass (Da):30,672
Checksum:iC5FE20DAFA84FBE9
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026964287T → A.Corresponds to variant rs890802dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0196271 – 27Missing in isoform 2. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_01962828 – 98ATTAG…RLLRE → MESRSGIQAGVRCRDLGSLQ PPPLALKQFSSLSLPSSWDY RRLPPRCGFLFEVSETTNPP AGTNSRHTLTV in isoform 2. 1 PublicationAdd BLAST71
Alternative sequenceiVSP_019629140 – 148Missing in isoform 2. 1 Publication9
Alternative sequenceiVSP_019630296 – 345APGLK…LGLPG → DVRDPGLGSVSSCSQRLASS SKKNGSEPPPGCAGCPRPQG RAGRHSGDRL in isoform 2. 1 PublicationAdd BLAST50
Alternative sequenceiVSP_019631346 – 540Missing in isoform 2. 1 PublicationAdd BLAST195

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY158895 mRNA. Translation: AAO18361.1.
AY898961 mRNA. Translation: AAX84028.1.
BC042428 mRNA. Translation: AAH42428.1.
AL137461 mRNA. Translation: CAB70749.1.
CCDSiCCDS4436.1. [Q86Y22-1]
PIRiT46404.
RefSeqiNP_775736.2. NM_173465.3. [Q86Y22-1]
UniGeneiHs.660026.

Genome annotation databases

EnsembliENST00000390654; ENSP00000375069; ENSG00000050767. [Q86Y22-1]
GeneIDi91522.
KEGGihsa:91522.
UCSCiuc063kkp.1. human. [Q86Y22-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY158895 mRNA. Translation: AAO18361.1.
AY898961 mRNA. Translation: AAX84028.1.
BC042428 mRNA. Translation: AAH42428.1.
AL137461 mRNA. Translation: CAB70749.1.
CCDSiCCDS4436.1. [Q86Y22-1]
PIRiT46404.
RefSeqiNP_775736.2. NM_173465.3. [Q86Y22-1]
UniGeneiHs.660026.

3D structure databases

ProteinModelPortaliQ86Y22.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124839. 2 interactors.
IntActiQ86Y22. 2 interactors.
STRINGi9606.ENSP00000375069.

PTM databases

iPTMnetiQ86Y22.
PhosphoSitePlusiQ86Y22.

Polymorphism and mutation databases

BioMutaiCOL23A1.
DMDMi74723551.

Proteomic databases

EPDiQ86Y22.
PaxDbiQ86Y22.
PeptideAtlasiQ86Y22.
PRIDEiQ86Y22.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000390654; ENSP00000375069; ENSG00000050767. [Q86Y22-1]
GeneIDi91522.
KEGGihsa:91522.
UCSCiuc063kkp.1. human. [Q86Y22-1]

Organism-specific databases

CTDi91522.
DisGeNETi91522.
GeneCardsiCOL23A1.
HGNCiHGNC:22990. COL23A1.
HPAiHPA067824.
MIMi610043. gene.
neXtProtiNX_Q86Y22.
OpenTargetsiENSG00000050767.
PharmGKBiPA134899251.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00840000129701.
HOGENOMiHOG000085653.
HOVERGENiHBG004933.
InParanoidiQ86Y22.
OMAiDDGMPSQ.
OrthoDBiEOG091G0G3Y.
PhylomeDBiQ86Y22.
TreeFamiTF338175.

Enzyme and pathway databases

ReactomeiR-HSA-1442490. Collagen degradation.
R-HSA-1650814. Collagen biosynthesis and modifying enzymes.
R-HSA-216083. Integrin cell surface interactions.

Miscellaneous databases

GenomeRNAii91522.
PROiQ86Y22.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000050767.
CleanExiHS_COL23A1.
ExpressionAtlasiQ86Y22. baseline and differential.
GenevisibleiQ86Y22. HS.

Family and domain databases

InterProiIPR008160. Collagen.
[Graphical view]
PfamiPF01391. Collagen. 7 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCONA1_HUMAN
AccessioniPrimary (citable) accession number: Q86Y22
Secondary accession number(s): Q8IVR4, Q9NT93
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: June 1, 2003
Last modified: November 2, 2016
This is version 122 of the entry and version 1 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 5
    Human chromosome 5: 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.