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Protein

Collagen alpha-1(XXIV) chain

Gene

COL24A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May participate in regulating type I collagen fibrillogenesis at specific anatomical locations during fetal development.1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-1(XXIV) chain
Gene namesi
Name:COL24A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:20821. COL24A1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi255631.
OpenTargetsiENSG00000171502.
PharmGKBiPA134932695.

Chemistry databases

ChEMBLiCHEMBL2364188.

Polymorphism and mutation databases

BioMutaiCOL24A1.
DMDMi290457636.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 35Sequence analysisAdd BLAST35
ChainiPRO_000031761636 – 1714Collagen alpha-1(XXIV) chainAdd BLAST1679

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi155N-linked (GlcNAc...)Sequence analysis1
Glycosylationi321N-linked (GlcNAc...)Sequence analysis1
Glycosylationi376N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ17RW2.
PaxDbiQ17RW2.
PeptideAtlasiQ17RW2.
PRIDEiQ17RW2.

PTM databases

iPTMnetiQ17RW2.
PhosphoSitePlusiQ17RW2.

Expressioni

Gene expression databases

BgeeiENSG00000171502.
CleanExiHS_COL24A1.
ExpressionAtlasiQ17RW2. baseline and differential.
GenevisibleiQ17RW2. HS.

Organism-specific databases

HPAiCAB033120.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
APPBP2Q926245EBI-2529266,EBI-743771

Protein-protein interaction databases

BioGridi129112. 1 interactor.
IntActiQ17RW2. 1 interactor.
STRINGi9606.ENSP00000359603.

Structurei

3D structure databases

ProteinModelPortaliQ17RW2.
SMRiQ17RW2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini141 – 217Laminin G-likeAdd BLAST77
Domaini487 – 542Collagen-like 1Add BLAST56
Domaini552 – 611Collagen-like 2Add BLAST60
Domaini660 – 719Collagen-like 3Add BLAST60
Domaini741 – 797Collagen-like 4Add BLAST57
Domaini798 – 857Collagen-like 5Add BLAST60
Domaini858 – 887Collagen-like 6Add BLAST30
Domaini888 – 947Collagen-like 7Add BLAST60
Domaini948 – 1007Collagen-like 8Add BLAST60
Domaini1011 – 1052Collagen-like 9Add BLAST42
Domaini1053 – 1112Collagen-like 10Add BLAST60
Domaini1116 – 1170Collagen-like 11Add BLAST55
Domaini1172 – 1196Collagen-like 12Add BLAST25
Domaini1201 – 1249Collagen-like 13Add BLAST49
Domaini1252 – 1306Collagen-like 14Add BLAST55
Domaini1309 – 1353Collagen-like 15Add BLAST45
Domaini1354 – 1413Collagen-like 16Add BLAST60
Domaini1420 – 1479Collagen-like 17Add BLAST60
Domaini1515 – 1714Fibrillar collagen NC1PROSITE-ProRule annotationAdd BLAST200

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi470 – 475Poly-Tyr6

Sequence similaritiesi

Belongs to the fibrillar collagen family.PROSITE-ProRule annotation
Contains 17 collagen-like domains.Curated
Contains 1 fibrillar collagen NC1 domain.PROSITE-ProRule annotation
Contains 1 laminin G-like domain.Curated

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00840000129673.
HOGENOMiHOG000085654.
HOVERGENiHBG098141.
InParanoidiQ17RW2.
KOiK19721.
OMAiKTGNPGE.
OrthoDBiEOG091G00WS.
PhylomeDBiQ17RW2.
TreeFamiTF344135.

Family and domain databases

Gene3Di2.60.120.200. 1 hit.
InterProiIPR008160. Collagen.
IPR013320. ConA-like_dom.
IPR000885. Fib_collagen_C.
IPR001791. Laminin_G.
[Graphical view]
PfamiPF01410. COLFI. 2 hits.
PF01391. Collagen. 13 hits.
PF02210. Laminin_G_2. 1 hit.
[Graphical view]
ProDomiPD002078. Fib_collagen_C. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00038. COLFI. 1 hit.
SM00210. TSPN. 1 hit.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
PROSITEiPS51461. NC1_FIB. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

Isoform 1 (identifier: Q17RW2-1) [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
MHLRAHRTRR GKVSPTAKTK SLLHFIVLCV AGVVVHAQEQ GIDILHQLGL
60 70 80 90 100
GGKDVRHSSP ATAVPSASTP LPQGVHLTES GVIFKNDAYI ETPFVKILPV
110 120 130 140 150
NLGQPFTILT GLQSHRVNNA FLFSIRNKNR LQLGVQLLPK KLVVHIRGKQ
160 170 180 190 200
PAVFNYSVHD EQWHSFAITI RNQSVSMFVE CGKKYFSTET IPEVQTFDSN
210 220 230 240 250
SVFTLGSMNN NSIHFEGIVC QLDIIPSAEA SADYCRYVKQ QCRQADKYQP
260 270 280 290 300
ETSIPCTTLI PTKIPEHSPP PKLFAEKVLS EDTFTEGKSI PNIIKNDSET
310 320 330 340 350
VYKRQEHQIS RSQLSSLQSG NVSAVDLTNH GIQAKEMITE EDTQTNFSLS
360 370 380 390 400
VTTHRISEAK MNTKEKFSSL LNMSDNITQH DDRVTGLSLF KKMPSILPQI
410 420 430 440 450
KQDTITNLKK AITANLHTNE LMEMQPILNT SLHRVTNEPS VDNHLDLRKE
460 470 480 490 500
GEFYPDATYP IENSYETELY DYYYYEDLNT MLEMEYLRGP KGDTGPPGPP
510 520 530 540 550
GPAGIPGPSG KRGPRGIPGP HGNPGLPGLP GPKGPKGDPG FSPGQPVPGE
560 570 580 590 600
KGDQGLSGLM GPPGMQGDKG LKGHPGLPGL PGEQGIPGFA GNIGSPGYPG
610 620 630 640 650
RQGLAGPEGN PGPKGAQGFI GSPGEAGQLG PEGERGIPGI RGKKGFKGRQ
660 670 680 690 700
GFPGDFGDRG PAGLDGSPGL VGGTGPPGFP GLRGSVGPVG PIGPAGIPGP
710 720 730 740 750
MGLSGNKGLP GIKGDKGEQG TAGELGEPGY PGDKGAVGLP GPPGMRGKSG
760 770 780 790 800
PSGQTGDPGL QGPSGPPGPE GFPGDIGIPG QNGPEGPKGL LGNRGPPGPP
810 820 830 840 850
GLKGTQGEEG PIGAFGELGP RGKPGQKGYA GEPGPEGLKG EVGDQGNIGK
860 870 880 890 900
IGETGPVGLP GEVGMTGSIG EKGERGSPGP LGPQGEKGVM GYPGPPGVPG
910 920 930 940 950
PIGPLGLPGH VGARGPPGSQ GPKGQRGSRG PDGLLGEQGI QGAKGEKGDQ
960 970 980 990 1000
GKRGPHGLIG KTGNPGERGF QGKPGLQGLP GSTGDRGLPG EPGLRGLQGD
1010 1020 1030 1040 1050
VGPPGEMGME GPPGTEGESG LQGEPGAKGD VGTAGSVGGT GEPGLRGEPG
1060 1070 1080 1090 1100
APGEEGLQGK DGLKGVPGGR GLPGEDGEKG EMGLPGIIGP LGRSGQTGLP
1110 1120 1130 1140 1150
GPEGIVGIPG QRGRPGKKGD KGQIGPTGEV GSRGPPGKIG KSGPKGARGT
1160 1170 1180 1190 1200
RGAVGHLGLM GPDGEPGIPG YRGHQGQPGP SGLPGPKGEK GYPGEDSTVL
1210 1220 1230 1240 1250
GPPGPRGEPG PVGDQGERGE PGAEGYKGHV GVPGLRGATG QQGPPGEPGD
1260 1270 1280 1290 1300
QGEQGLKGER GSEGNKGKKG APGPSGKPGI PGLQGLLGPK GIQGYHGADG
1310 1320 1330 1340 1350
ISGNPGKIGP PGKQGLPGIR GGPGRTGLAG APGPPGVKGS SGLPGSPGIQ
1360 1370 1380 1390 1400
GPKGEQGLPG QPGIQGKRGH RGAQGDQGPC GDPGLKGQPG EYGVQGLTGF
1410 1420 1430 1440 1450
QGFPGPKGPE GDAGIVGISG PKGPIGHRGN TGPLGREGII GPTGRTGPRG
1460 1470 1480 1490 1500
EKGFRGETGP QGPRGQPGPP GPPGAPGPRK QMDINAAIQA LIESNTALQM
1510 1520 1530 1540 1550
ESYQNTEVTL IDHSEEIFKT LNYLSNLLHS IKNPLGTRDN PARICKDLLN
1560 1570 1580 1590 1600
CEQKVSDGKY WIDPNLGCPS DAIEVFCNFS AGGQTCLPPV SVTKLEFGVG
1610 1620 1630 1640 1650
KVQMNFLHLL SSEATHIITI HCLNTPRWTS TQTSGPGLPI GFKGWNGQIF
1660 1670 1680 1690 1700
KVNTLLEPKV LSDDCKIQDG SWHKATFLFH TQEPNQLPVI EVQKLPHLKT
1710
ERKYYIDSSS VCFL
Length:1,714
Mass (Da):175,496
Last modified:March 2, 2010 - v2
Checksum:i2AC82E13DB5BBD3D
GO
Isoform 2 (identifier: Q17RW2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1459-1479: Missing.

Note: No experimental confirmation available.
Show »
Length:1,693
Mass (Da):173,583
Checksum:iA8BEDD096C17C47F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti828 – 849GYAGE…QGNIG → ITVFATLYSFLTGRSRRSRK YW in BAD92923 (Ref. 5) CuratedAdd BLAST22

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06286561A → V.2 PublicationsCorresponds to variant rs11161747dbSNPEnsembl.1
Natural variantiVAR_055672151P → L.Corresponds to variant rs1027819dbSNPEnsembl.1
Natural variantiVAR_055673293I → T.Corresponds to variant rs17128866dbSNPEnsembl.1
Natural variantiVAR_055674481M → L.Corresponds to variant rs10493784dbSNPEnsembl.1
Natural variantiVAR_055675546P → S.1 PublicationCorresponds to variant rs11161732dbSNPEnsembl.1
Natural variantiVAR_061116641R → H.Corresponds to variant rs60891279dbSNPEnsembl.1
Natural variantiVAR_055676731P → S.1 PublicationCorresponds to variant rs641712dbSNPEnsembl.1
Natural variantiVAR_0385651423G → R.Corresponds to variant rs7520146dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0310901459 – 1479Missing in isoform 2. 1 PublicationAdd BLAST21

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY244357 mRNA. Translation: AAP80185.1.
AL356059
, AC099561, AC104455, AL359971, AL445427 Genomic DNA. Translation: CAH71121.1.
AL359971
, AC099561, AC104455, AL356059, AL445427 Genomic DNA. Translation: CAI16233.1.
AL445427
, AC099561, AC104455, AL356059, AL359971 Genomic DNA. Translation: CAI19120.1.
CH471097 Genomic DNA. Translation: EAW73193.1.
BC113654 mRNA. Translation: AAI13655.1.
BC117170 mRNA. Translation: AAI17171.1.
AB209686 mRNA. Translation: BAD92923.1.
CCDSiCCDS41353.1. [Q17RW2-1]
RefSeqiNP_690850.2. NM_152890.5. [Q17RW2-1]
UniGeneiHs.659516.

Genome annotation databases

EnsembliENST00000370571; ENSP00000359603; ENSG00000171502. [Q17RW2-1]
GeneIDi255631.
KEGGihsa:255631.
UCSCiuc001dlj.4. human. [Q17RW2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY244357 mRNA. Translation: AAP80185.1.
AL356059
, AC099561, AC104455, AL359971, AL445427 Genomic DNA. Translation: CAH71121.1.
AL359971
, AC099561, AC104455, AL356059, AL445427 Genomic DNA. Translation: CAI16233.1.
AL445427
, AC099561, AC104455, AL356059, AL359971 Genomic DNA. Translation: CAI19120.1.
CH471097 Genomic DNA. Translation: EAW73193.1.
BC113654 mRNA. Translation: AAI13655.1.
BC117170 mRNA. Translation: AAI17171.1.
AB209686 mRNA. Translation: BAD92923.1.
CCDSiCCDS41353.1. [Q17RW2-1]
RefSeqiNP_690850.2. NM_152890.5. [Q17RW2-1]
UniGeneiHs.659516.

3D structure databases

ProteinModelPortaliQ17RW2.
SMRiQ17RW2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129112. 1 interactor.
IntActiQ17RW2. 1 interactor.
STRINGi9606.ENSP00000359603.

Chemistry databases

ChEMBLiCHEMBL2364188.

PTM databases

iPTMnetiQ17RW2.
PhosphoSitePlusiQ17RW2.

Polymorphism and mutation databases

BioMutaiCOL24A1.
DMDMi290457636.

Proteomic databases

EPDiQ17RW2.
PaxDbiQ17RW2.
PeptideAtlasiQ17RW2.
PRIDEiQ17RW2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370571; ENSP00000359603; ENSG00000171502. [Q17RW2-1]
GeneIDi255631.
KEGGihsa:255631.
UCSCiuc001dlj.4. human. [Q17RW2-1]

Organism-specific databases

CTDi255631.
DisGeNETi255631.
GeneCardsiCOL24A1.
H-InvDBHIX0018170.
HGNCiHGNC:20821. COL24A1.
HPAiCAB033120.
MIMi610025. gene.
neXtProtiNX_Q17RW2.
OpenTargetsiENSG00000171502.
PharmGKBiPA134932695.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00840000129673.
HOGENOMiHOG000085654.
HOVERGENiHBG098141.
InParanoidiQ17RW2.
KOiK19721.
OMAiKTGNPGE.
OrthoDBiEOG091G00WS.
PhylomeDBiQ17RW2.
TreeFamiTF344135.

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiCOL24A1. human.
GenomeRNAii255631.
PROiQ17RW2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171502.
CleanExiHS_COL24A1.
ExpressionAtlasiQ17RW2. baseline and differential.
GenevisibleiQ17RW2. HS.

Family and domain databases

Gene3Di2.60.120.200. 1 hit.
InterProiIPR008160. Collagen.
IPR013320. ConA-like_dom.
IPR000885. Fib_collagen_C.
IPR001791. Laminin_G.
[Graphical view]
PfamiPF01410. COLFI. 2 hits.
PF01391. Collagen. 13 hits.
PF02210. Laminin_G_2. 1 hit.
[Graphical view]
ProDomiPD002078. Fib_collagen_C. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00038. COLFI. 1 hit.
SM00210. TSPN. 1 hit.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
PROSITEiPS51461. NC1_FIB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCOOA1_HUMAN
AccessioniPrimary (citable) accession number: Q17RW2
Secondary accession number(s): C9J1X6
, Q14BD7, Q59EX5, Q5VY50, Q7Z5L5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: March 2, 2010
Last modified: November 30, 2016
This is version 99 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 1
    Human chromosome 1: 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.