Q2UY09 (COSA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Collagen alpha-1(XXVIII) chain

Gene names

Name:	COL28A1
Synonyms:	COL28

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1125 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	May act as a cell-binding protein.
Subunit structure	Trimer or homomer. Secreted into as a 135 kDa monomer under reducing conditions and as a homotrimer under non-reducing conditions By similarity.
Subcellular location	Secreted › extracellular space › extracellular matrix › basement membrane By similarity.
Sequence similarities	Belongs to the VWA-containing collagen family. Contains 1 BPTI/Kunitz inhibitor domain. Contains 6 collagen-like domains. Contains 2 VWFA domains.
Sequence caution	The sequence EAL24305.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence EAL24306.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence EAL24307.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Basement membrane Extracellular matrix Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Collagen Repeat Signal
Molecular function	Protease inhibitor Serine protease inhibitor
PTM	Disulfide bond
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell adhesion Inferred from electronic annotation. Source: UniProtKB-KW extracellular matrix organization Traceable author statement. Source: Reactome
Cellular_component	basement membrane Inferred from electronic annotation. Source: UniProtKB-SubCell collagen Inferred from electronic annotation. Source: UniProtKB-KW endoplasmic reticulum lumen Traceable author statement. Source: Reactome extracellular region Traceable author statement. Source: Reactome
Molecular_function	serine-type endopeptidase inhibitor activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q2UY09-1)

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: Q2UY09-2)

The sequence of this isoform differs from the canonical sequence as follows:
     667-713: GEPGVRGPPG...PGYGSQGIKG → TLNTSHGLED...IPASGTRQDG
     714-1125: Missing.

Isoform 3 (identifier: Q2UY09-3)

The sequence of this isoform differs from the canonical sequence as follows:
     295-334: GERGECGKPG...GITGPPGDPG → QYSREDREVE...SLTHHGTCSH
     335-1125: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 23	23	Potential
	Chain	24 – 1125	1102	Collagen alpha-1(XXVIII) chain		PRO_5000074667
Regions
	Domain	48 – 227	180	VWFA 1
	Domain	243 – 274	32	Collagen-like 1
	Domain	301 – 360	60	Collagen-like 2
	Domain	383 – 405	23	Collagen-like 3
	Domain	501 – 544	44	Collagen-like 4
	Domain	545 – 583	39	Collagen-like 5
	Domain	730 – 769	40	Collagen-like 6
	Domain	798 – 980	183	VWFA 2
	Domain	1072 – 1122	51	BPTI/Kunitz inhibitor
Amino acid modifications
	Disulfide bond	1072 ↔ 1122		By similarity
	Disulfide bond	1081 ↔ 1105		By similarity
	Disulfide bond	1097 ↔ 1118		By similarity
Natural variations
	Alternative sequence	295 – 334	40	GERGE…PGDPG → QYSREDREVEHNNEKYVACL LPSPALLQQSSLTHHGTCSH in isoform 3.		VSP_031091
	Alternative sequence	335 – 1125	791	Missing in isoform 3.		VSP_031092
	Alternative sequence	667 – 713	47	GEPGV…QGIKG → TLNTSHGLEDPSCPDCSFCH FSLAADIQPKWPALLQLIPA SGTRQDG in isoform 2.		VSP_031093
	Alternative sequence	714 – 1125	412	Missing in isoform 2.		VSP_031094
	Natural variant	189	1	A → G. Ref.3 Ref.4 Corresponds to variant rs7804532 [ dbSNP | Ensembl ].		VAR_038566
	Natural variant	239	1	I → V. Corresponds to variant rs10486180 [ dbSNP | Ensembl ].		VAR_038567
	Natural variant	327	1	T → S. Corresponds to variant rs10486176 [ dbSNP | Ensembl ].		VAR_038568
	Natural variant	433	1	E → D. Corresponds to variant rs6952195 [ dbSNP | Ensembl ].		VAR_038569
	Natural variant	437	1	I → M. Corresponds to variant rs55745506 [ dbSNP | Ensembl ].		VAR_061117
	Natural variant	472	1	A → P. Corresponds to variant rs17167927 [ dbSNP | Ensembl ].		VAR_038570
	Natural variant	741	1	R → Q. Corresponds to variant rs17167102 [ dbSNP | Ensembl ].		VAR_038571

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 5, 2008. Version 2. Checksum: 0969733A0D1095F2	FASTA	1,125	116,657
	10 20 30 40 50 60 MWNRYFVFYL LLLSAFTSQT VSGQRKKGPK SNLLARKSDV QGSICFIDIV FIVDSSESSK 70 80 90 100 110 120 IALFDKQKDF VDSLSDKIFQ LTPGRSLEYD IKLAALQFSS SVQIDPPFSS WKDLQTFKQK 130 140 150 160 170 180 VKSMNLIGQG TFSYYAISNA TRLLKREGRK DGVKVVLLMT DGIDHPKNPD VQSISEDARI 190 200 210 220 230 240 SGISFITIAL STVVNEAKLR LISGDSSSEP TLLLSDPTLV DKIQDRLDIL FEKKCERKIC 250 260 270 280 290 300 ECEKGDPGDP GPPGTHGNPG IKGERGPKGN PGNAQKGEAG ERGPGGIPGY KGDKGERGEC 310 320 330 340 350 360 GKPGIKGDKG SPGPYGPKGP RGIQGITGPP GDPGPKGFQG NKGEPGPPGP YGSPGAPGIG 370 380 390 400 410 420 QQGIKGERGQ EGRPGAPGPI GVGEPGQPGP RGPEGVPGER GLPGEGFPGP KGEKGSEGPT 430 440 450 460 470 480 GPQGLQGLSI KGEKGDIGPV GPQGPMGIPG IGSQGEQGIQ GPIGPPGPQG PAGQGLPGSK 490 500 510 520 530 540 GEVGQMGPTG PRGPVGIGVQ GPKGEPGSIG LPGQPGVPGE DGAAGKKGEA GLPGARGPEG 550 560 570 580 590 600 PPGKGQPGPK GDEGKKGSKG NQGQRGLPGP EGPKGEPGIM GPFGMPGTSI PGPPGPKGDR 610 620 630 640 650 660 GGPGIPGFKG EPGLSIRGPK GVQGPRGPVG APGLKGDGYP GVPGPRGLPG PPGPMGLRGV 670 680 690 700 710 720 GDTGAKGEPG VRGPPGPSGP RGVGTQGPKG DTGQKGLPGP PGPPGYGSQG IKGEQGPQGF 730 740 750 760 770 780 PGPKGTMGHG LPGQKGEHGE RGDVGKKGDK GEIGEPGSPG KQGLQGPKGD LGLTKEEIIK 790 800 810 820 830 840 LITEICGCGP KCKETPLELV FVIDSSESVG PENFQIIKNF VKTMADRVAL DLATARIGII 850 860 870 880 890 900 NYSHKVEKVA NLKQFSSKDD FKLAVDNMQY LGEGTYTATA LQAANDMFED ARPGVKKVAL 910 920 930 940 950 960 VITDGQTDSR DKEKLTEVVK NASDTNVEIF VIGVVKKNDP NFEIFHKEMN LIATDPEHVY 970 980 990 1000 1010 1020 QFDDFFTLQD TLKQKLFQKI CEDFDSYLVQ IFGSSSPQPG FGMSGEELSE STPEPQKEIS 1030 1040 1050 1060 1070 1080 ESLSVTRDQD EDDKAPEPTW ADDLPATTSS EATTTPRPLL STPVDGAEDP RCLEALKPGN 1090 1100 1110 1120 CGEYVVRWYY DKQVNSCARF WFSGCNGSGN RFNSEKECQE TCIQG
	Isoform 2 [UniParc]. Checksum: A1EF4CE194D7C78A	FASTA	713	72,210
	10 20 30 40 50 60 MWNRYFVFYL LLLSAFTSQT VSGQRKKGPK SNLLARKSDV QGSICFIDIV FIVDSSESSK 70 80 90 100 110 120 IALFDKQKDF VDSLSDKIFQ LTPGRSLEYD IKLAALQFSS SVQIDPPFSS WKDLQTFKQK 130 140 150 160 170 180 VKSMNLIGQG TFSYYAISNA TRLLKREGRK DGVKVVLLMT DGIDHPKNPD VQSISEDARI 190 200 210 220 230 240 SGISFITIAL STVVNEAKLR LISGDSSSEP TLLLSDPTLV DKIQDRLDIL FEKKCERKIC 250 260 270 280 290 300 ECEKGDPGDP GPPGTHGNPG IKGERGPKGN PGNAQKGEAG ERGPGGIPGY KGDKGERGEC 310 320 330 340 350 360 GKPGIKGDKG SPGPYGPKGP RGIQGITGPP GDPGPKGFQG NKGEPGPPGP YGSPGAPGIG 370 380 390 400 410 420 QQGIKGERGQ EGRPGAPGPI GVGEPGQPGP RGPEGVPGER GLPGEGFPGP KGEKGSEGPT 430 440 450 460 470 480 GPQGLQGLSI KGEKGDIGPV GPQGPMGIPG IGSQGEQGIQ GPIGPPGPQG PAGQGLPGSK 490 500 510 520 530 540 GEVGQMGPTG PRGPVGIGVQ GPKGEPGSIG LPGQPGVPGE DGAAGKKGEA GLPGARGPEG 550 560 570 580 590 600 PPGKGQPGPK GDEGKKGSKG NQGQRGLPGP EGPKGEPGIM GPFGMPGTSI PGPPGPKGDR 610 620 630 640 650 660 GGPGIPGFKG EPGLSIRGPK GVQGPRGPVG APGLKGDGYP GVPGPRGLPG PPGPMGLRGV 670 680 690 700 710 GDTGAKTLNT SHGLEDPSCP DCSFCHFSLA ADIQPKWPAL LQLIPASGTR QDG
	Isoform 3 [UniParc]. Checksum: 4CA00ED002DB706A	FASTA	334	36,755
	10 20 30 40 50 60 MWNRYFVFYL LLLSAFTSQT VSGQRKKGPK SNLLARKSDV QGSICFIDIV FIVDSSESSK 70 80 90 100 110 120 IALFDKQKDF VDSLSDKIFQ LTPGRSLEYD IKLAALQFSS SVQIDPPFSS WKDLQTFKQK 130 140 150 160 170 180 VKSMNLIGQG TFSYYAISNA TRLLKREGRK DGVKVVLLMT DGIDHPKNPD VQSISEDARI 190 200 210 220 230 240 SGISFITIAL STVVNEAKLR LISGDSSSEP TLLLSDPTLV DKIQDRLDIL FEKKCERKIC 250 260 270 280 290 300 ECEKGDPGDP GPPGTHGNPG IKGERGPKGN PGNAQKGEAG ERGPGGIPGY KGDKQYSRED 310 320 330 REVEHNNEKY VACLLPSPAL LQQSSLTHHG TCSH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Collagen XXVIII, a novel von Willebrand factor A domain-containing protein with many imperfections in the collagenous domain." Veit G., Kobbe B., Keene D.R., Paulsson M., Koch M., Wagener R. J. Biol. Chem. 281:3494-3504(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3). Tissue: Endometrial adenocarcinoma, Germ cell and Lung.
[2]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Human chromosome 7: DNA sequence and biology." Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C. Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLY-189.
[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 GLY-189.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ890451 mRNA. Translation: CAI67595.1. AJ890452 mRNA. Translation: CAI67596.1. AJ890453 mRNA. Translation: CAI67597.1. AC004982 Genomic DNA. No translation available. CH236948 Genomic DNA. Translation: EAL24305.1. Sequence problems. CH236948 Genomic DNA. Translation: EAL24306.1. Sequence problems. CH236948 Genomic DNA. Translation: EAL24307.1. Sequence problems. BC136892 mRNA. Translation: AAI36893.1.
IPI	IPI00235632. IPI00657936. IPI00885128.
RefSeq	NP_001032852.2. NM_001037763.2.
UniGene	Hs.491104.
3D structure databases
HSSP	HSSP built from PDB template 2B2X based on UniProtKB P18614.
ProteinModelPortal	Q2UY09.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000382356.
Protein family/group databases
MEROPS	I02.974.
PTM databases
PhosphoSite	Q2UY09.
Polymorphism databases
DMDM	167009138.
Proteomic databases
PaxDb	Q2UY09.
PRIDE	Q2UY09.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000399429; ENSP00000382356; ENSG00000215018. ENST00000435823; ENSP00000410557; ENSG00000215018. ENST00000444268; ENSP00000408401; ENSG00000215018.
GeneID	340267.
KEGG	hsa:340267.
UCSC	uc003src.1. human.
Organism-specific databases
CTD	340267.
GeneCards	GC07M007364.
H-InvDB	HIX0034009.
HGNC	HGNC:22442. COL28A1.
MIM	609996. gene.
neXtProt	NX_Q2UY09.
PharmGKB	PA143485437.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG236064.
HOVERGEN	HBG104822.
InParanoid	Q2UY09.
OMA	DPNFEIF.
OrthoDB	EOG42JNR4.
Enzyme and pathway databases
Reactome	REACT_118779. Extracellular matrix organization.
Gene expression databases
ArrayExpress	Q2UY09.
Bgee	Q2UY09.
CleanEx	HS_COL28A1.
Genevestigator	Q2UY09.
Family and domain databases
Gene3D	4.10.410.10. 1 hit.
InterPro	IPR008160. Collagen. IPR002223. Prot_inh_Kunz-m. IPR020901. Prtase_inh_Kunz-CS. IPR002035. VWF_A. [Graphical view]
Pfam	PF01391. Collagen. 5 hits. PF00014. Kunitz_BPTI. 1 hit. PF00092. VWA. 2 hits. [Graphical view]
SMART	SM00131. KU. 1 hit. SM00327. VWA. 2 hits. [Graphical view]
SUPFAM	SSF57362. Prot_inh_Kunz-m. 1 hit.
PROSITE	PS00280. BPTI_KUNITZ_1. 1 hit. PS50279. BPTI_KUNITZ_2. 1 hit. PS50234. VWFA. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	340267.
NextBio	97768.
SOURCE	Search...

Entry information

Entry name

COSA1_HUMAN

Accession

Primary (citable) accession number: Q2UY09
Secondary accession number(s): A4D101 , A4D106, A4D107, A8MVR2, B9EGX9, Q2UY07, Q2UY08

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 5, 2008
Last sequence update:	February 5, 2008
Last modified:	May 1, 2013
This is version 70 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.