COSA1_HUMAN
ID COSA1_HUMAN Reviewed; 1125 AA.
AC Q2UY09; A4D101; A4D106; A4D107; A8MVR2; B9EGX9; Q2UY07; Q2UY08;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Collagen alpha-1(XXVIII) chain;
DE Flags: Precursor;
GN Name=COL28A1; Synonyms=COL28;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3).
RC TISSUE=Endometrial adenocarcinoma, Germ cell, and Lung;
RX PubMed=16330543; DOI=10.1074/jbc.m509333200;
RA Veit G., Kobbe B., Keene D.R., Paulsson M., Koch M., Wagener R.;
RT "Collagen XXVIII, a novel von Willebrand factor A domain-containing protein
RT with many imperfections in the collagenous domain.";
RL J. Biol. Chem. 281:3494-3504(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT GLY-189.
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT GLY-189.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: May act as a cell-binding protein.
CC -!- SUBUNIT: Trimer or homomer. Secreted as a 135 kDa monomer under
CC reducing conditions and as a homotrimer under non-reducing conditions
CC (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC matrix, basement membrane {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q2UY09-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q2UY09-2; Sequence=VSP_031093, VSP_031094;
CC Name=3;
CC IsoId=Q2UY09-3; Sequence=VSP_031091, VSP_031092;
CC -!- SIMILARITY: Belongs to the VWA-containing collagen family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=EAL24305.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=EAL24306.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=EAL24307.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AJ890451; CAI67595.1; -; mRNA.
DR EMBL; AJ890452; CAI67596.1; -; mRNA.
DR EMBL; AJ890453; CAI67597.1; -; mRNA.
DR EMBL; AC004982; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH236948; EAL24305.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH236948; EAL24306.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH236948; EAL24307.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC136892; AAI36893.1; -; mRNA.
DR CCDS; CCDS43553.1; -. [Q2UY09-1]
DR RefSeq; NP_001032852.2; NM_001037763.2. [Q2UY09-1]
DR RefSeq; XP_011513660.1; XM_011515358.2. [Q2UY09-1]
DR RefSeq; XP_011513661.1; XM_011515359.2. [Q2UY09-1]
DR RefSeq; XP_011513662.1; XM_011515360.2. [Q2UY09-1]
DR RefSeq; XP_011513665.1; XM_011515363.2. [Q2UY09-2]
DR RefSeq; XP_016867620.1; XM_017012131.1. [Q2UY09-1]
DR RefSeq; XP_016867621.1; XM_017012132.1. [Q2UY09-1]
DR AlphaFoldDB; Q2UY09; -.
DR SMR; Q2UY09; -.
DR BioGRID; 131026; 2.
DR ComplexPortal; CPX-1769; Collagen type XXVIII trimer.
DR STRING; 9606.ENSP00000382356; -.
DR ChEMBL; CHEMBL2364188; -.
DR MEROPS; I02.974; -.
DR GlyGen; Q2UY09; 3 sites, 2 O-linked glycans (3 sites).
DR iPTMnet; Q2UY09; -.
DR PhosphoSitePlus; Q2UY09; -.
DR BioMuta; COL28A1; -.
DR DMDM; 167009138; -.
DR jPOST; Q2UY09; -.
DR MassIVE; Q2UY09; -.
DR PaxDb; Q2UY09; -.
DR PeptideAtlas; Q2UY09; -.
DR PRIDE; Q2UY09; -.
DR ProteomicsDB; 61505; -. [Q2UY09-1]
DR ProteomicsDB; 61506; -. [Q2UY09-2]
DR ProteomicsDB; 61507; -. [Q2UY09-3]
DR TopDownProteomics; Q2UY09-2; -. [Q2UY09-2]
DR Antibodypedia; 71450; 23 antibodies from 11 providers.
DR DNASU; 340267; -.
DR Ensembl; ENST00000399429.8; ENSP00000382356.3; ENSG00000215018.10. [Q2UY09-1]
DR GeneID; 340267; -.
DR KEGG; hsa:340267; -.
DR MANE-Select; ENST00000399429.8; ENSP00000382356.3; NM_001037763.3; NP_001032852.2.
DR UCSC; uc003src.2; human. [Q2UY09-1]
DR CTD; 340267; -.
DR DisGeNET; 340267; -.
DR GeneCards; COL28A1; -.
DR HGNC; HGNC:22442; COL28A1.
DR HPA; ENSG00000215018; Tissue enhanced (salivary).
DR MIM; 609996; gene.
DR neXtProt; NX_Q2UY09; -.
DR OpenTargets; ENSG00000215018; -.
DR PharmGKB; PA143485437; -.
DR VEuPathDB; HostDB:ENSG00000215018; -.
DR eggNOG; KOG1217; Eukaryota.
DR eggNOG; KOG3544; Eukaryota.
DR GeneTree; ENSGT00940000161647; -.
DR HOGENOM; CLU_009158_0_0_1; -.
DR InParanoid; Q2UY09; -.
DR OMA; VINYSHK; -.
DR OrthoDB; 293907at2759; -.
DR PhylomeDB; Q2UY09; -.
DR TreeFam; TF331207; -.
DR PathwayCommons; Q2UY09; -.
DR Reactome; R-HSA-1650814; Collagen biosynthesis and modifying enzymes.
DR Reactome; R-HSA-8948216; Collagen chain trimerization.
DR BioGRID-ORCS; 340267; 10 hits in 1064 CRISPR screens.
DR ChiTaRS; COL28A1; human.
DR GeneWiki; COL28A1; -.
DR GenomeRNAi; 340267; -.
DR Pharos; Q2UY09; Tdark.
DR PRO; PR:Q2UY09; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q2UY09; protein.
DR Bgee; ENSG00000215018; Expressed in sural nerve and 114 other tissues.
DR ExpressionAtlas; Q2UY09; baseline and differential.
DR Genevisible; Q2UY09; HS.
DR GO; GO:0005604; C:basement membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005581; C:collagen trimer; IEA:UniProtKB-KW.
DR GO; GO:0062023; C:collagen-containing extracellular matrix; HDA:BHF-UCL.
DR GO; GO:0005788; C:endoplasmic reticulum lumen; TAS:Reactome.
DR GO; GO:0031012; C:extracellular matrix; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0005201; F:extracellular matrix structural constituent; IBA:GO_Central.
DR GO; GO:0004867; F:serine-type endopeptidase inhibitor activity; IEA:UniProtKB-KW.
DR GO; GO:0007155; P:cell adhesion; IEA:UniProtKB-KW.
DR GO; GO:0030198; P:extracellular matrix organization; IBA:GO_Central.
DR CDD; cd00109; KU; 1.
DR Gene3D; 3.40.50.410; -; 2.
DR Gene3D; 4.10.410.10; -; 1.
DR InterPro; IPR008160; Collagen.
DR InterPro; IPR002223; Kunitz_BPTI.
DR InterPro; IPR036880; Kunitz_BPTI_sf.
DR InterPro; IPR020901; Prtase_inh_Kunz-CS.
DR InterPro; IPR002035; VWF_A.
DR InterPro; IPR036465; vWFA_dom_sf.
DR Pfam; PF01391; Collagen; 4.
DR Pfam; PF00014; Kunitz_BPTI; 1.
DR Pfam; PF00092; VWA; 2.
DR SMART; SM00131; KU; 1.
DR SMART; SM00327; VWA; 2.
DR SUPFAM; SSF53300; SSF53300; 2.
DR SUPFAM; SSF57362; SSF57362; 1.
DR PROSITE; PS00280; BPTI_KUNITZ_1; 1.
DR PROSITE; PS50279; BPTI_KUNITZ_2; 1.
DR PROSITE; PS50234; VWFA; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Basement membrane; Cell adhesion; Collagen;
KW Disulfide bond; Extracellular matrix; Protease inhibitor;
KW Reference proteome; Repeat; Secreted; Serine protease inhibitor; Signal.
FT SIGNAL 1..23
FT /evidence="ECO:0000255"
FT CHAIN 24..1125
FT /note="Collagen alpha-1(XXVIII) chain"
FT /id="PRO_5000074667"
FT DOMAIN 48..227
FT /note="VWFA 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00219"
FT DOMAIN 243..274
FT /note="Collagen-like 1"
FT DOMAIN 301..360
FT /note="Collagen-like 2"
FT DOMAIN 383..405
FT /note="Collagen-like 3"
FT DOMAIN 501..544
FT /note="Collagen-like 4"
FT DOMAIN 545..583
FT /note="Collagen-like 5"
FT DOMAIN 730..769
FT /note="Collagen-like 6"
FT DOMAIN 798..980
FT /note="VWFA 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00219"
FT DOMAIN 1072..1122
FT /note="BPTI/Kunitz inhibitor"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00031"
FT REGION 242..769
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 999..1066
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 734..754
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1043..1060
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT DISULFID 1072..1122
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00031"
FT DISULFID 1081..1105
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00031"
FT DISULFID 1097..1118
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00031"
FT VAR_SEQ 295..334
FT /note="GERGECGKPGIKGDKGSPGPYGPKGPRGIQGITGPPGDPG -> QYSREDRE
FT VEHNNEKYVACLLPSPALLQQSSLTHHGTCSH (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16330543"
FT /id="VSP_031091"
FT VAR_SEQ 335..1125
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16330543"
FT /id="VSP_031092"
FT VAR_SEQ 667..713
FT /note="GEPGVRGPPGPSGPRGVGTQGPKGDTGQKGLPGPPGPPGYGSQGIKG -> T
FT LNTSHGLEDPSCPDCSFCHFSLAADIQPKWPALLQLIPASGTRQDG (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:16330543"
FT /id="VSP_031093"
FT VAR_SEQ 714..1125
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16330543"
FT /id="VSP_031094"
FT VARIANT 189
FT /note="A -> G (in dbSNP:rs7804532)"
FT /evidence="ECO:0000269|PubMed:12690205,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_038566"
FT VARIANT 239
FT /note="I -> V (in dbSNP:rs10486180)"
FT /id="VAR_038567"
FT VARIANT 327
FT /note="T -> S (in dbSNP:rs10486176)"
FT /id="VAR_038568"
FT VARIANT 433
FT /note="E -> D (in dbSNP:rs6952195)"
FT /id="VAR_038569"
FT VARIANT 437
FT /note="I -> M (in dbSNP:rs55745506)"
FT /id="VAR_061117"
FT VARIANT 472
FT /note="A -> P (in dbSNP:rs17167927)"
FT /id="VAR_038570"
FT VARIANT 741
FT /note="R -> Q (in dbSNP:rs17167102)"
FT /id="VAR_038571"
SQ SEQUENCE 1125 AA; 116657 MW; 0969733A0D1095F2 CRC64;
MWNRYFVFYL LLLSAFTSQT VSGQRKKGPK SNLLARKSDV QGSICFIDIV FIVDSSESSK
IALFDKQKDF VDSLSDKIFQ LTPGRSLEYD IKLAALQFSS SVQIDPPFSS WKDLQTFKQK
VKSMNLIGQG TFSYYAISNA TRLLKREGRK DGVKVVLLMT DGIDHPKNPD VQSISEDARI
SGISFITIAL STVVNEAKLR LISGDSSSEP TLLLSDPTLV DKIQDRLDIL FEKKCERKIC
ECEKGDPGDP GPPGTHGNPG IKGERGPKGN PGNAQKGEAG ERGPGGIPGY KGDKGERGEC
GKPGIKGDKG SPGPYGPKGP RGIQGITGPP GDPGPKGFQG NKGEPGPPGP YGSPGAPGIG
QQGIKGERGQ EGRPGAPGPI GVGEPGQPGP RGPEGVPGER GLPGEGFPGP KGEKGSEGPT
GPQGLQGLSI KGEKGDIGPV GPQGPMGIPG IGSQGEQGIQ GPIGPPGPQG PAGQGLPGSK
GEVGQMGPTG PRGPVGIGVQ GPKGEPGSIG LPGQPGVPGE DGAAGKKGEA GLPGARGPEG
PPGKGQPGPK GDEGKKGSKG NQGQRGLPGP EGPKGEPGIM GPFGMPGTSI PGPPGPKGDR
GGPGIPGFKG EPGLSIRGPK GVQGPRGPVG APGLKGDGYP GVPGPRGLPG PPGPMGLRGV
GDTGAKGEPG VRGPPGPSGP RGVGTQGPKG DTGQKGLPGP PGPPGYGSQG IKGEQGPQGF
PGPKGTMGHG LPGQKGEHGE RGDVGKKGDK GEIGEPGSPG KQGLQGPKGD LGLTKEEIIK
LITEICGCGP KCKETPLELV FVIDSSESVG PENFQIIKNF VKTMADRVAL DLATARIGII
NYSHKVEKVA NLKQFSSKDD FKLAVDNMQY LGEGTYTATA LQAANDMFED ARPGVKKVAL
VITDGQTDSR DKEKLTEVVK NASDTNVEIF VIGVVKKNDP NFEIFHKEMN LIATDPEHVY
QFDDFFTLQD TLKQKLFQKI CEDFDSYLVQ IFGSSSPQPG FGMSGEELSE STPEPQKEIS
ESLSVTRDQD EDDKAPEPTW ADDLPATTSS EATTTPRPLL STPVDGAEDP RCLEALKPGN
CGEYVVRWYY DKQVNSCARF WFSGCNGSGN RFNSEKECQE TCIQG
