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Q2UY09

- COSA1_HUMAN

UniProt

Q2UY09 - COSA1_HUMAN

Protein

Collagen alpha-1(XXVIII) chain

Gene

COL28A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 85 (01 Oct 2014)
      Sequence version 2 (05 Feb 2008)
      Previous versions | rss
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    Functioni

    May act as a cell-binding protein.

    GO - Molecular functioni

    1. serine-type endopeptidase inhibitor activity Source: UniProtKB-KW

    GO - Biological processi

    1. cell adhesion Source: UniProtKB-KW
    2. extracellular matrix organization Source: Reactome

    Keywords - Molecular functioni

    Protease inhibitor, Serine protease inhibitor

    Keywords - Biological processi

    Cell adhesion

    Enzyme and pathway databases

    ReactomeiREACT_121139. Collagen biosynthesis and modifying enzymes.

    Protein family/group databases

    MEROPSiI02.974.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Collagen alpha-1(XXVIII) chain
    Gene namesi
    Name:COL28A1
    Synonyms:COL28
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:22442. COL28A1.

    Subcellular locationi

    GO - Cellular componenti

    1. basement membrane Source: UniProtKB-SubCell
    2. collagen trimer Source: UniProtKB-KW
    3. endoplasmic reticulum lumen Source: Reactome
    4. extracellular region Source: Reactome

    Keywords - Cellular componenti

    Basement membrane, Extracellular matrix, Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA143485437.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2323Sequence AnalysisAdd
    BLAST
    Chaini24 – 11251102Collagen alpha-1(XXVIII) chainPRO_5000074667Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi1072 ↔ 1122PROSITE-ProRule annotation
    Disulfide bondi1081 ↔ 1105PROSITE-ProRule annotation
    Disulfide bondi1097 ↔ 1118PROSITE-ProRule annotation

    Keywords - PTMi

    Disulfide bond

    Proteomic databases

    PaxDbiQ2UY09.
    PRIDEiQ2UY09.

    PTM databases

    PhosphoSiteiQ2UY09.

    Expressioni

    Gene expression databases

    ArrayExpressiQ2UY09.
    BgeeiQ2UY09.
    CleanExiHS_COL28A1.
    GenevestigatoriQ2UY09.

    Organism-specific databases

    HPAiHPA060468.

    Interactioni

    Subunit structurei

    Trimer or homomer. Secreted into as a 135 kDa monomer under reducing conditions and as a homotrimer under non-reducing conditions By similarity.By similarity

    Protein-protein interaction databases

    STRINGi9606.ENSP00000382356.

    Structurei

    3D structure databases

    ProteinModelPortaliQ2UY09.
    SMRiQ2UY09. Positions 44-231, 795-977, 1079-1122.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini48 – 227180VWFA 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini243 – 27432Collagen-like 1Add
    BLAST
    Domaini301 – 36060Collagen-like 2Add
    BLAST
    Domaini383 – 40523Collagen-like 3Add
    BLAST
    Domaini501 – 54444Collagen-like 4Add
    BLAST
    Domaini545 – 58339Collagen-like 5Add
    BLAST
    Domaini730 – 76940Collagen-like 6Add
    BLAST
    Domaini798 – 980183VWFA 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1072 – 112251BPTI/Kunitz inhibitorPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the VWA-containing collagen family.Curated
    Contains 1 BPTI/Kunitz inhibitor domain.PROSITE-ProRule annotation
    Contains 6 collagen-like domains.Curated
    Contains 2 VWFA domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Collagen, Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG236064.
    HOVERGENiHBG104822.
    InParanoidiQ2UY09.
    OMAiQAANDMF.
    OrthoDBiEOG7NSB1W.
    PhylomeDBiQ2UY09.
    TreeFamiTF331207.

    Family and domain databases

    Gene3Di3.40.50.410. 2 hits.
    4.10.410.10. 1 hit.
    InterProiIPR008160. Collagen.
    IPR002223. Prot_inh_Kunz-m.
    IPR020901. Prtase_inh_Kunz-CS.
    IPR002035. VWF_A.
    [Graphical view]
    PfamiPF01391. Collagen. 5 hits.
    PF00014. Kunitz_BPTI. 1 hit.
    PF00092. VWA. 2 hits.
    [Graphical view]
    SMARTiSM00131. KU. 1 hit.
    SM00327. VWA. 2 hits.
    [Graphical view]
    SUPFAMiSSF53300. SSF53300. 2 hits.
    SSF57362. SSF57362. 1 hit.
    PROSITEiPS00280. BPTI_KUNITZ_1. 1 hit.
    PS50279. BPTI_KUNITZ_2. 1 hit.
    PS50234. VWFA. 2 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

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

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q2UY09-1) [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

    MWNRYFVFYL LLLSAFTSQT VSGQRKKGPK SNLLARKSDV QGSICFIDIV     50
    FIVDSSESSK IALFDKQKDF VDSLSDKIFQ LTPGRSLEYD IKLAALQFSS 100
    SVQIDPPFSS WKDLQTFKQK VKSMNLIGQG TFSYYAISNA TRLLKREGRK 150
    DGVKVVLLMT DGIDHPKNPD VQSISEDARI SGISFITIAL STVVNEAKLR 200
    LISGDSSSEP TLLLSDPTLV DKIQDRLDIL FEKKCERKIC ECEKGDPGDP 250
    GPPGTHGNPG IKGERGPKGN PGNAQKGEAG ERGPGGIPGY KGDKGERGEC 300
    GKPGIKGDKG SPGPYGPKGP RGIQGITGPP GDPGPKGFQG NKGEPGPPGP 350
    YGSPGAPGIG QQGIKGERGQ EGRPGAPGPI GVGEPGQPGP RGPEGVPGER 400
    GLPGEGFPGP KGEKGSEGPT GPQGLQGLSI KGEKGDIGPV GPQGPMGIPG 450
    IGSQGEQGIQ GPIGPPGPQG PAGQGLPGSK GEVGQMGPTG PRGPVGIGVQ 500
    GPKGEPGSIG LPGQPGVPGE DGAAGKKGEA GLPGARGPEG PPGKGQPGPK 550
    GDEGKKGSKG NQGQRGLPGP EGPKGEPGIM GPFGMPGTSI PGPPGPKGDR 600
    GGPGIPGFKG EPGLSIRGPK GVQGPRGPVG APGLKGDGYP GVPGPRGLPG 650
    PPGPMGLRGV GDTGAKGEPG VRGPPGPSGP RGVGTQGPKG DTGQKGLPGP 700
    PGPPGYGSQG IKGEQGPQGF PGPKGTMGHG LPGQKGEHGE RGDVGKKGDK 750
    GEIGEPGSPG KQGLQGPKGD LGLTKEEIIK LITEICGCGP KCKETPLELV 800
    FVIDSSESVG PENFQIIKNF VKTMADRVAL DLATARIGII NYSHKVEKVA 850
    NLKQFSSKDD FKLAVDNMQY LGEGTYTATA LQAANDMFED ARPGVKKVAL 900
    VITDGQTDSR DKEKLTEVVK NASDTNVEIF VIGVVKKNDP NFEIFHKEMN 950
    LIATDPEHVY QFDDFFTLQD TLKQKLFQKI CEDFDSYLVQ IFGSSSPQPG 1000
    FGMSGEELSE STPEPQKEIS ESLSVTRDQD EDDKAPEPTW ADDLPATTSS 1050
    EATTTPRPLL STPVDGAEDP RCLEALKPGN CGEYVVRWYY DKQVNSCARF 1100
    WFSGCNGSGN RFNSEKECQE TCIQG 1125
    Length:1,125
    Mass (Da):116,657
    Last modified:February 5, 2008 - v2
    Checksum:i0969733A0D1095F2
    GO
    Isoform 2 (identifier: Q2UY09-2) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:713
    Mass (Da):72,210
    Checksum:iA1EF4CE194D7C78A
    GO
    Isoform 3 (identifier: Q2UY09-3) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:334
    Mass (Da):36,755
    Checksum:i4CA00ED002DB706A
    GO

    Sequence cautioni

    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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti189 – 1891A → G.2 Publications
    Corresponds to variant rs7804532 [ dbSNP | Ensembl ].
    VAR_038566
    Natural varianti239 – 2391I → V.
    Corresponds to variant rs10486180 [ dbSNP | Ensembl ].
    VAR_038567
    Natural varianti327 – 3271T → S.
    Corresponds to variant rs10486176 [ dbSNP | Ensembl ].
    VAR_038568
    Natural varianti433 – 4331E → D.
    Corresponds to variant rs6952195 [ dbSNP | Ensembl ].
    VAR_038569
    Natural varianti437 – 4371I → M.
    Corresponds to variant rs55745506 [ dbSNP | Ensembl ].
    VAR_061117
    Natural varianti472 – 4721A → P.
    Corresponds to variant rs17167927 [ dbSNP | Ensembl ].
    VAR_038570
    Natural varianti741 – 7411R → Q.
    Corresponds to variant rs17167102 [ dbSNP | Ensembl ].
    VAR_038571

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei295 – 33440GERGE…PGDPG → QYSREDREVEHNNEKYVACL LPSPALLQQSSLTHHGTCSH in isoform 3. 1 PublicationVSP_031091Add
    BLAST
    Alternative sequencei335 – 1125791Missing in isoform 3. 1 PublicationVSP_031092Add
    BLAST
    Alternative sequencei667 – 71347GEPGV…QGIKG → TLNTSHGLEDPSCPDCSFCH FSLAADIQPKWPALLQLIPA SGTRQDG in isoform 2. 1 PublicationVSP_031093Add
    BLAST
    Alternative sequencei714 – 1125412Missing in isoform 2. 1 PublicationVSP_031094Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS43553.1. [Q2UY09-1]
    RefSeqiNP_001032852.2. NM_001037763.2. [Q2UY09-1]
    UniGeneiHs.491104.

    Genome annotation databases

    EnsembliENST00000399429; ENSP00000382356; ENSG00000215018. [Q2UY09-1]
    ENST00000435823; ENSP00000410557; ENSG00000215018.
    ENST00000444268; ENSP00000408401; ENSG00000215018.
    GeneIDi340267.
    KEGGihsa:340267.
    UCSCiuc003src.1. human. [Q2UY09-1]

    Polymorphism databases

    DMDMi167009138.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS43553.1. [Q2UY09-1 ]
    RefSeqi NP_001032852.2. NM_001037763.2. [Q2UY09-1 ]
    UniGenei Hs.491104.

    3D structure databases

    ProteinModelPortali Q2UY09.
    SMRi Q2UY09. Positions 44-231, 795-977, 1079-1122.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000382356.

    Chemistry

    ChEMBLi CHEMBL2364188.

    Protein family/group databases

    MEROPSi I02.974.

    PTM databases

    PhosphoSitei Q2UY09.

    Polymorphism databases

    DMDMi 167009138.

    Proteomic databases

    PaxDbi Q2UY09.
    PRIDEi Q2UY09.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000399429 ; ENSP00000382356 ; ENSG00000215018 . [Q2UY09-1 ]
    ENST00000435823 ; ENSP00000410557 ; ENSG00000215018 .
    ENST00000444268 ; ENSP00000408401 ; ENSG00000215018 .
    GeneIDi 340267.
    KEGGi hsa:340267.
    UCSCi uc003src.1. human. [Q2UY09-1 ]

    Organism-specific databases

    CTDi 340267.
    GeneCardsi GC07M007364.
    H-InvDB HIX0034009.
    HGNCi HGNC:22442. COL28A1.
    HPAi HPA060468.
    MIMi 609996. gene.
    neXtProti NX_Q2UY09.
    PharmGKBi PA143485437.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG236064.
    HOVERGENi HBG104822.
    InParanoidi Q2UY09.
    OMAi QAANDMF.
    OrthoDBi EOG7NSB1W.
    PhylomeDBi Q2UY09.
    TreeFami TF331207.

    Enzyme and pathway databases

    Reactomei REACT_121139. Collagen biosynthesis and modifying enzymes.

    Miscellaneous databases

    GeneWikii COL28A1.
    GenomeRNAii 340267.
    NextBioi 97768.
    PROi Q2UY09.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q2UY09.
    Bgeei Q2UY09.
    CleanExi HS_COL28A1.
    Genevestigatori Q2UY09.

    Family and domain databases

    Gene3Di 3.40.50.410. 2 hits.
    4.10.410.10. 1 hit.
    InterProi IPR008160. Collagen.
    IPR002223. Prot_inh_Kunz-m.
    IPR020901. Prtase_inh_Kunz-CS.
    IPR002035. VWF_A.
    [Graphical view ]
    Pfami PF01391. Collagen. 5 hits.
    PF00014. Kunitz_BPTI. 1 hit.
    PF00092. VWA. 2 hits.
    [Graphical view ]
    SMARTi SM00131. KU. 1 hit.
    SM00327. VWA. 2 hits.
    [Graphical view ]
    SUPFAMi SSF53300. SSF53300. 2 hits.
    SSF57362. SSF57362. 1 hit.
    PROSITEi PS00280. BPTI_KUNITZ_1. 1 hit.
    PS50279. BPTI_KUNITZ_2. 1 hit.
    PS50234. VWFA. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.

    Entry informationi

    Entry nameiCOSA1_HUMAN
    AccessioniPrimary (citable) accession number: Q2UY09
    Secondary accession number(s): A4D101
    , A4D106, A4D107, A8MVR2, B9EGX9, Q2UY07, Q2UY08
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 5, 2008
    Last sequence update: February 5, 2008
    Last modified: October 1, 2014
    This is version 85 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 7
      Human chromosome 7: 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

    External Data

    Dasty 3