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Q17RW2 (COOA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 67. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Collagen alpha-1(XXIV) chain
Gene names
Name:COL24A1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1714 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Subcellular location

Secretedextracellular spaceextracellular matrix By similarity.

Sequence similarities

Belongs to the fibrillar collagen family.

Contains 17 collagen-like domains.

Contains 1 fibrillar collagen NC1 domain.

Contains 1 laminin G-like domain.

Ontologies

Keywords
   Cellular componentExtracellular matrix
Secreted
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCollagen
Repeat
Signal
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processextracellular matrix organization

Traceable author statement. Source: Reactome

   Cellular_componentcollagen

Inferred from electronic annotation. Source: UniProtKB-KW

endoplasmic reticulum lumen

Traceable author statement. Source: Reactome

extracellular region

Traceable author statement. Source: Reactome

   Molecular_functionextracellular matrix structural constituent

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q17RW2-1)

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.
Isoform 2 (identifier: Q17RW2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1459-1479: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3535 Potential
Chain36 – 17141679Collagen alpha-1(XXIV) chain
PRO_0000317616

Regions

Domain141 – 21777Laminin G-like
Domain487 – 54256Collagen-like 1
Domain552 – 61160Collagen-like 2
Domain660 – 71960Collagen-like 3
Domain741 – 79757Collagen-like 4
Domain798 – 85760Collagen-like 5
Domain858 – 88730Collagen-like 6
Domain888 – 94760Collagen-like 7
Domain948 – 100760Collagen-like 8
Domain1011 – 105242Collagen-like 9
Domain1053 – 111260Collagen-like 10
Domain1116 – 117055Collagen-like 11
Domain1172 – 119625Collagen-like 12
Domain1201 – 124949Collagen-like 13
Domain1252 – 130655Collagen-like 14
Domain1309 – 135345Collagen-like 15
Domain1354 – 141360Collagen-like 16
Domain1420 – 147960Collagen-like 17
Domain1515 – 1714200Fibrillar collagen NC1
Compositional bias470 – 4756Poly-Tyr

Amino acid modifications

Glycosylation1551N-linked (GlcNAc...) Potential
Glycosylation3211N-linked (GlcNAc...) Potential
Glycosylation3761N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1459 – 147921Missing in isoform 2.
VSP_031090
Natural variant611A → V. Ref.1 Ref.4
Corresponds to variant rs11161747 [ dbSNP | Ensembl ].
VAR_062865
Natural variant1511P → L.
Corresponds to variant rs1027819 [ dbSNP | Ensembl ].
VAR_055672
Natural variant2931I → T.
Corresponds to variant rs17128866 [ dbSNP | Ensembl ].
VAR_055673
Natural variant4811M → L.
Corresponds to variant rs10493784 [ dbSNP | Ensembl ].
VAR_055674
Natural variant5461P → S. Ref.1
Corresponds to variant rs11161732 [ dbSNP | Ensembl ].
VAR_055675
Natural variant6411R → H.
Corresponds to variant rs60891279 [ dbSNP | Ensembl ].
VAR_061116
Natural variant7311P → S. Ref.1
Corresponds to variant rs641712 [ dbSNP | Ensembl ].
VAR_055676
Natural variant14231G → R.
Corresponds to variant rs7520146 [ dbSNP | Ensembl ].
VAR_038565

Experimental info

Sequence conflict828 – 84922GYAGE…QGNIG → ITVFATLYSFLTGRSRRSRK YW in BAD92923. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 2, 2010. Version 2.
Checksum: 2AC82E13DB5BBD3D

FASTA1,714175,496
        10         20         30         40         50         60 
MHLRAHRTRR GKVSPTAKTK SLLHFIVLCV AGVVVHAQEQ GIDILHQLGL GGKDVRHSSP 

        70         80         90        100        110        120 
ATAVPSASTP LPQGVHLTES GVIFKNDAYI ETPFVKILPV NLGQPFTILT GLQSHRVNNA 

       130        140        150        160        170        180 
FLFSIRNKNR LQLGVQLLPK KLVVHIRGKQ PAVFNYSVHD EQWHSFAITI RNQSVSMFVE 

       190        200        210        220        230        240 
CGKKYFSTET IPEVQTFDSN SVFTLGSMNN NSIHFEGIVC QLDIIPSAEA SADYCRYVKQ 

       250        260        270        280        290        300 
QCRQADKYQP ETSIPCTTLI PTKIPEHSPP PKLFAEKVLS EDTFTEGKSI PNIIKNDSET 

       310        320        330        340        350        360 
VYKRQEHQIS RSQLSSLQSG NVSAVDLTNH GIQAKEMITE EDTQTNFSLS VTTHRISEAK 

       370        380        390        400        410        420 
MNTKEKFSSL LNMSDNITQH DDRVTGLSLF KKMPSILPQI KQDTITNLKK AITANLHTNE 

       430        440        450        460        470        480 
LMEMQPILNT SLHRVTNEPS VDNHLDLRKE GEFYPDATYP IENSYETELY DYYYYEDLNT 

       490        500        510        520        530        540 
MLEMEYLRGP KGDTGPPGPP GPAGIPGPSG KRGPRGIPGP HGNPGLPGLP GPKGPKGDPG 

       550        560        570        580        590        600 
FSPGQPVPGE KGDQGLSGLM GPPGMQGDKG LKGHPGLPGL PGEQGIPGFA GNIGSPGYPG 

       610        620        630        640        650        660 
RQGLAGPEGN PGPKGAQGFI GSPGEAGQLG PEGERGIPGI RGKKGFKGRQ GFPGDFGDRG 

       670        680        690        700        710        720 
PAGLDGSPGL VGGTGPPGFP GLRGSVGPVG PIGPAGIPGP MGLSGNKGLP GIKGDKGEQG 

       730        740        750        760        770        780 
TAGELGEPGY PGDKGAVGLP GPPGMRGKSG PSGQTGDPGL QGPSGPPGPE GFPGDIGIPG 

       790        800        810        820        830        840 
QNGPEGPKGL LGNRGPPGPP GLKGTQGEEG PIGAFGELGP RGKPGQKGYA GEPGPEGLKG 

       850        860        870        880        890        900 
EVGDQGNIGK IGETGPVGLP GEVGMTGSIG EKGERGSPGP LGPQGEKGVM GYPGPPGVPG 

       910        920        930        940        950        960 
PIGPLGLPGH VGARGPPGSQ GPKGQRGSRG PDGLLGEQGI QGAKGEKGDQ GKRGPHGLIG 

       970        980        990       1000       1010       1020 
KTGNPGERGF QGKPGLQGLP GSTGDRGLPG EPGLRGLQGD VGPPGEMGME GPPGTEGESG 

      1030       1040       1050       1060       1070       1080 
LQGEPGAKGD VGTAGSVGGT GEPGLRGEPG APGEEGLQGK DGLKGVPGGR GLPGEDGEKG 

      1090       1100       1110       1120       1130       1140 
EMGLPGIIGP LGRSGQTGLP GPEGIVGIPG QRGRPGKKGD KGQIGPTGEV GSRGPPGKIG 

      1150       1160       1170       1180       1190       1200 
KSGPKGARGT RGAVGHLGLM GPDGEPGIPG YRGHQGQPGP SGLPGPKGEK GYPGEDSTVL 

      1210       1220       1230       1240       1250       1260 
GPPGPRGEPG PVGDQGERGE PGAEGYKGHV GVPGLRGATG QQGPPGEPGD QGEQGLKGER 

      1270       1280       1290       1300       1310       1320 
GSEGNKGKKG APGPSGKPGI PGLQGLLGPK GIQGYHGADG ISGNPGKIGP PGKQGLPGIR 

      1330       1340       1350       1360       1370       1380 
GGPGRTGLAG APGPPGVKGS SGLPGSPGIQ GPKGEQGLPG QPGIQGKRGH RGAQGDQGPC 

      1390       1400       1410       1420       1430       1440 
GDPGLKGQPG EYGVQGLTGF QGFPGPKGPE GDAGIVGISG PKGPIGHRGN TGPLGREGII 

      1450       1460       1470       1480       1490       1500 
GPTGRTGPRG EKGFRGETGP QGPRGQPGPP GPPGAPGPRK QMDINAAIQA LIESNTALQM 

      1510       1520       1530       1540       1550       1560 
ESYQNTEVTL IDHSEEIFKT LNYLSNLLHS IKNPLGTRDN PARICKDLLN CEQKVSDGKY 

      1570       1580       1590       1600       1610       1620 
WIDPNLGCPS DAIEVFCNFS AGGQTCLPPV SVTKLEFGVG KVQMNFLHLL SSEATHIITI 

      1630       1640       1650       1660       1670       1680 
HCLNTPRWTS TQTSGPGLPI GFKGWNGQIF KVNTLLEPKV LSDDCKIQDG SWHKATFLFH 

      1690       1700       1710 
TQEPNQLPVI EVQKLPHLKT ERKYYIDSSS VCFL 

« Hide

Isoform 2 [UniParc].

Checksum: A8BEDD096C17C47F
Show »

FASTA1,693173,583

References

« Hide 'large scale' references
[1]"Collagen XXIV, a vertebrate fibrillar collagen with structural features of invertebrate collagens: selective expression in developing cornea and bone."
Koch M., Laub F., Zhou P., Hahn R.A., Tanaka S., Burgeson R.E., Gerecke D.R., Ramirez F., Gordon M.K.
J. Biol. Chem. 278:43236-43244(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS VAL-61; SER-546 AND SER-731.
Tissue: Cartilage.
[2]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-61.
[5]Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 827-1714 (ISOFORM 2).
Tissue: Brain.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY244357 mRNA. Translation: AAP80185.1.
AL356059 expand/collapse EMBL AC list , AC099561, AC104455, AL359971, AL445427 Genomic DNA. Translation: CAH71121.1.
AL359971 expand/collapse EMBL AC list , AC099561, AC104455, AL356059, AL445427 Genomic DNA. Translation: CAI16233.1.
AL445427 expand/collapse EMBL AC list , 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.
IPIIPI00168920.
IPI00878900.
RefSeqNP_690850.2. NM_152890.5.
UniGeneHs.659516.

3D structure databases

ProteinModelPortalQ17RW2.
SMRQ17RW2. Positions 1533-1714.
ModBaseSearch...

Protein-protein interaction databases

STRING9606.ENSP00000359603.

PTM databases

PhosphoSiteQ17RW2.

Polymorphism databases

DMDM290457636.

Proteomic databases

PaxDbQ17RW2.
PRIDEQ17RW2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000370571; ENSP00000359603; ENSG00000171502.
ENST00000436319; ENSP00000392531; ENSG00000171502.
GeneID255631.
KEGGhsa:255631.
UCSCuc001dlj.3. human.

Organism-specific databases

CTD255631.
GeneCardsGC01M086194.
H-InvDBHIX0018170.
HGNCHGNC:20821. COL24A1.
HPAHPA038423.
MIM610025. gene.
neXtProtNX_Q17RW2.
PharmGKBPA134932695.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOGENOMHOG000085654.
HOVERGENHBG098141.
InParanoidQ17RW2.
KOK06236.
OMAFPGDFGD.
OrthoDBEOG4WQ11P.
PhylomeDBQ17RW2.

Enzyme and pathway databases

ReactomeREACT_118779. Extracellular matrix organization.

Gene expression databases

ArrayExpressQ17RW2.
BgeeQ17RW2.
CleanExHS_COL24A1.
GenevestigatorQ17RW2.

Family and domain databases

Gene3D2.60.120.200. 1 hit.
InterProIPR008160. Collagen.
IPR008985. ConA-like_lec_gl_sf.
IPR013320. ConA-like_subgrp.
IPR000885. Fib_collagen_C.
IPR001791. Laminin_G.
[Graphical view]
PfamPF01410. COLFI. 2 hits.
PF01391. Collagen. 14 hits.
PF02210. Laminin_G_2. 1 hit.
[Graphical view]
ProDomPD002078. Fib_collagen_C. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00038. COLFI. 1 hit.
SM00210. TSPN. 1 hit.
[Graphical view]
SUPFAMSSF49899. ConA_like_lec_gl. 1 hit.
PROSITEPS50025. LAM_G_DOMAIN. False negative.
PS51461. NC1_FIB. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi255631.
NextBio92614.
SOURCESearch...

Entry information

Entry nameCOOA1_HUMAN
AccessionPrimary (citable) accession number: Q17RW2
Secondary accession number(s): C9J1X6 expand/collapse secondary AC list , Q14BD7, Q59EX5, Q5VY50, Q7Z5L5
Entry history
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: March 2, 2010
Last modified: May 1, 2013
This is version 67 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families