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Q96A83

- COQA1_HUMAN

UniProt

Q96A83 - COQA1_HUMAN

Protein

Collagen alpha-1(XXVI) chain

Gene

COL26A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 96 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    GO - Biological processi

    1. collagen catabolic process Source: Reactome
    2. extracellular matrix disassembly Source: Reactome
    3. extracellular matrix organization Source: Reactome

    Enzyme and pathway databases

    ReactomeiREACT_121139. Collagen biosynthesis and modifying enzymes.
    REACT_150401. Collagen degradation.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Collagen alpha-1(XXVI) chain
    Alternative name(s):
    Alpha-1 type XXVI collagen
    EMI domain-containing protein 2
    Emilin and multimerin domain-containing protein 2
    Short name:
    Emu2
    Gene namesi
    Name:COL26A1
    Synonyms:EMID2, EMU2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:18038. COL26A1.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134887081.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2020Sequence AnalysisAdd
    BLAST
    Chaini21 – 441421Collagen alpha-1(XXVI) chainPRO_0000007825Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi56 ↔ 118PROSITE-ProRule annotation
    Glycosylationi70 – 701N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi83 ↔ 89PROSITE-ProRule annotation
    Disulfide bondi117 ↔ 126PROSITE-ProRule annotation
    Glycosylationi132 – 1321N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    Hydroxylated on proline residues.By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Hydroxylation

    Proteomic databases

    PaxDbiQ96A83.
    PRIDEiQ96A83.

    PTM databases

    PhosphoSiteiQ96A83.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96A83.
    BgeeiQ96A83.
    CleanExiHS_EMID2.
    GenevestigatoriQ96A83.

    Interactioni

    Subunit structurei

    Homotrimer or heterotrimer.By similarity

    Protein-protein interaction databases

    BioGridi126448. 1 interaction.
    IntActiQ96A83. 1 interaction.
    MINTiMINT-2878718.
    STRINGi9606.ENSP00000381022.

    Structurei

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4BJ3X-ray3.04C/D/E308-326[»]
    ProteinModelPortaliQ96A83.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini52 – 12877EMIPROSITE-ProRule annotationAdd
    BLAST
    Domaini199 – 26769Collagen-like 1Add
    BLAST
    Domaini302 – 35554Collagen-like 2Add
    BLAST

    Sequence similaritiesi

    Contains 2 collagen-like domains.Curated
    Contains 1 EMI domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Collagen, Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG74199.
    HOGENOMiHOG000038011.
    HOVERGENiHBG096014.
    InParanoidiQ96A83.
    PhylomeDBiQ96A83.

    Family and domain databases

    InterProiIPR008160. Collagen.
    IPR011489. EMI_domain.
    [Graphical view]
    PfamiPF01391. Collagen. 2 hits.
    PF07546. EMI. 1 hit.
    [Graphical view]
    PROSITEiPS51041. EMI. 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. Align

    Isoform 1 (identifier: Q96A83-1) [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

    MKLALLLPWA CCCLCGSALA TGFLYPFSAA ALQQHGYPEP GAGSPGSGYA    50
    SRRHWCHHTV TRTVSCQVQN GSETVVQRVY QSCRWPGPCA NLVSYRTLIR 100
    PTYRVSYRTV TVLEWRCCPG FTGSNCDEEC MNCTRLSDMS ERLTTLEAKV 150
    LLLEAAERPS SPDNDLPAPE STPPTWNEDF LPDAIPLAHP VPRQRRPTGP 200
    AGPPGQTGPP GPAGPPGSKG DRGQTGEKGP AGPPGLLGPP GPRGLPGEMG 250
    RPGPPGPPGP AGNPGPSPNS PQGALYSLQP PTDKDNGDSR LASAIVDTVL 300
    AGVPGPRGPP GPPGPPGPRG PPGPPGTPGS QGLAGERGTV GPSGEPGVKG 350
    EEGEKAATAE GEGVQQLREA LKILAERVLI LEHMIGIHDP LASPEGGSGQ 400
    DAALRANLKM KRGGAQPDGV LAALLGPDPG QKSVDQASSR K 441
    Length:441
    Mass (Da):45,381
    Last modified:December 1, 2001 - v1
    Checksum:i896CA2AC52B20E92
    GO
    Isoform 2 (identifier: Q96A83-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         94-95: Missing.

    Note: May be due to a competing acceptor splice site.

    Show »
    Length:439
    Mass (Da):45,131
    Checksum:i9F13E4A77BA723D9
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti427 – 4271P → L.
    Corresponds to variant rs17471501 [ dbSNP | Ensembl ].
    VAR_057530

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei94 – 952Missing in isoform 2. 2 PublicationsVSP_008447

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ416091 mRNA. Translation: CAC94778.1.
    AC004953 Genomic DNA. No translation available.
    AC004965 Genomic DNA. No translation available.
    AC006329 Genomic DNA. No translation available.
    BC109254 mRNA. Translation: AAI09255.1.
    BC110393 mRNA. Translation: AAI10394.1.
    CCDSiCCDS64739.1. [Q96A83-1]
    RefSeqiNP_001265492.1. NM_001278563.2. [Q96A83-1]
    NP_597714.2. NM_133457.4. [Q96A83-2]
    UniGeneiHs.654854.

    Genome annotation databases

    EnsembliENST00000397927; ENSP00000381022; ENSG00000160963.
    GeneIDi136227.
    KEGGihsa:136227.
    UCSCiuc003uyo.1. human. [Q96A83-1]

    Polymorphism databases

    DMDMi37537825.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ416091 mRNA. Translation: CAC94778.1 .
    AC004953 Genomic DNA. No translation available.
    AC004965 Genomic DNA. No translation available.
    AC006329 Genomic DNA. No translation available.
    BC109254 mRNA. Translation: AAI09255.1 .
    BC110393 mRNA. Translation: AAI10394.1 .
    CCDSi CCDS64739.1. [Q96A83-1 ]
    RefSeqi NP_001265492.1. NM_001278563.2. [Q96A83-1 ]
    NP_597714.2. NM_133457.4. [Q96A83-2 ]
    UniGenei Hs.654854.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4BJ3 X-ray 3.04 C/D/E 308-326 [» ]
    ProteinModelPortali Q96A83.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126448. 1 interaction.
    IntActi Q96A83. 1 interaction.
    MINTi MINT-2878718.
    STRINGi 9606.ENSP00000381022.

    PTM databases

    PhosphoSitei Q96A83.

    Polymorphism databases

    DMDMi 37537825.

    Proteomic databases

    PaxDbi Q96A83.
    PRIDEi Q96A83.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000397927 ; ENSP00000381022 ; ENSG00000160963 .
    GeneIDi 136227.
    KEGGi hsa:136227.
    UCSCi uc003uyo.1. human. [Q96A83-1 ]

    Organism-specific databases

    CTDi 136227.
    GeneCardsi GC07P101007.
    H-InvDB HIX0033568.
    HGNCi HGNC:18038. COL26A1.
    MIMi 608927. gene.
    neXtProti NX_Q96A83.
    PharmGKBi PA134887081.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG74199.
    HOGENOMi HOG000038011.
    HOVERGENi HBG096014.
    InParanoidi Q96A83.
    PhylomeDBi Q96A83.

    Enzyme and pathway databases

    Reactomei REACT_121139. Collagen biosynthesis and modifying enzymes.
    REACT_150401. Collagen degradation.

    Miscellaneous databases

    GeneWikii EMID2.
    GenomeRNAii 136227.
    NextBioi 83553.
    PROi Q96A83.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96A83.
    Bgeei Q96A83.
    CleanExi HS_EMID2.
    Genevestigatori Q96A83.

    Family and domain databases

    InterProi IPR008160. Collagen.
    IPR011489. EMI_domain.
    [Graphical view ]
    Pfami PF01391. Collagen. 2 hits.
    PF07546. EMI. 1 hit.
    [Graphical view ]
    PROSITEi PS51041. EMI. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Developmental expression and biochemical characterization of Emu family members."
      Leimeister C., Steidl C., Schumacher N., Erhard S., Gessler M.
      Dev. Biol. 249:204-218(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
    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. "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 2).

    Entry informationi

    Entry nameiCOQA1_HUMAN
    AccessioniPrimary (citable) accession number: Q96A83
    Secondary accession number(s): Q32M90
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 3, 2003
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 96 of the entry and version 1 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

    3D-structure, 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3