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Q9BXJ0

- C1QT5_HUMAN

UniProt

Q9BXJ0 - C1QT5_HUMAN

Protein

Complement C1q tumor necrosis factor-related protein 5

Gene

C1QTNF5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Complement C1q tumor necrosis factor-related protein 5
    Gene namesi
    Name:C1QTNF5
    Synonyms:CTRP5
    ORF Names:UNQ303/PRO344
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:14344. C1QTNF5.

    Subcellular locationi

    Secreted Curated

    GO - Cellular componenti

    1. collagen trimer Source: UniProtKB-KW
    2. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Late-onset retinal degeneration (LORD) [MIM:605670]: Autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti163 – 1631S → R in LORD. 2 Publications
    VAR_032629

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi605670. phenotype.
    Orphaneti67042. Late-onset retinal degeneration.
    PharmGKBiPA30776.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 15151 PublicationAdd
    BLAST
    Chaini16 – 243228Complement C1q tumor necrosis factor-related protein 5PRO_0000003535Add
    BLAST

    Proteomic databases

    PaxDbiQ9BXJ0.
    PRIDEiQ9BXJ0.

    Expressioni

    Gene expression databases

    CleanExiHS_C1QTNF5.
    GenevestigatoriQ9BXJ0.

    Organism-specific databases

    HPAiCAB025607.
    HPA038604.

    Interactioni

    Subunit structurei

    May interact with FAM132B By similarity. Homotrimer (via collagen-like domain). May form higher order oligomers by supercoiling of the trimers.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi123684. 1 interaction.
    125392. 1 interaction.
    STRINGi9606.ENSP00000402389.

    Structurei

    Secondary structure

    1
    243
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi105 – 1095
    Beta strandi119 – 1213
    Beta strandi127 – 1304
    Turni138 – 1414
    Beta strandi142 – 1443
    Beta strandi149 – 17022
    Beta strandi173 – 1808
    Beta strandi189 – 19911
    Beta strandi204 – 2085
    Beta strandi215 – 2184
    Beta strandi226 – 23510
    Turni240 – 2423

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4F3JX-ray1.34A103-243[»]
    4NN0X-ray1.42A/B/C103-243[»]
    ProteinModelPortaliQ9BXJ0.
    SMRiQ9BXJ0. Positions 103-243.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini30 – 9566Collagen-likeAdd
    BLAST
    Domaini99 – 238140C1qPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 C1q domain.PROSITE-ProRule annotation
    Contains 1 collagen-like domain.Curated

    Keywords - Domaini

    Collagen, Signal

    Phylogenomic databases

    eggNOGiNOG119645.
    HOGENOMiHOG000085653.
    HOVERGENiHBG108220.
    InParanoidiQ9BXJ0.
    OMAiINEQGHY.
    OrthoDBiEOG70ZZPW.
    PhylomeDBiQ9BXJ0.
    TreeFamiTF329591.

    Family and domain databases

    Gene3Di2.60.120.40. 1 hit.
    InterProiIPR001073. C1q.
    IPR008160. Collagen.
    IPR008983. Tumour_necrosis_fac-like_dom.
    [Graphical view]
    PfamiPF00386. C1q. 1 hit.
    PF01391. Collagen. 1 hit.
    [Graphical view]
    PRINTSiPR00007. COMPLEMNTC1Q.
    SMARTiSM00110. C1Q. 1 hit.
    [Graphical view]
    SUPFAMiSSF49842. SSF49842. 1 hit.
    PROSITEiPS50871. C1Q. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q9BXJ0-1 [UniParc]FASTAAdd to Basket

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    MRPLLVLLLL GLAAGSPPLD DNKIPSLCPG HPGLPGTPGH HGSQGLPGRD    50
    GRDGRDGAPG APGEKGEGGR PGLPGPRGDP GPRGEAGPAG PTGPAGECSV 100
    PPRSAFSAKR SESRVPPPSD APLPFDRVLV NEQGHYDAVT GKFTCQVPGV 150
    YYFAVHATVY RASLQFDLVK NGESIASFFQ FFGGWPKPAS LSGGAMVRLE 200
    PEDQVWVQVG VGDYIGIYAS IKTDSTFSGF LVYSDWHSSP VFA 243
    Length:243
    Mass (Da):25,298
    Last modified:June 1, 2001 - v1
    Checksum:i7CCDA65CDA7EB784
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti44 – 441Q → R.1 Publication
    Corresponds to variant rs11538245 [ dbSNP | Ensembl ].
    VAR_032628
    Natural varianti163 – 1631S → R in LORD. 2 Publications
    VAR_032629

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF329841 mRNA. Translation: AAK17965.1.
    AJ862823 mRNA. Translation: CAH93522.1.
    AY358383 mRNA. Translation: AAQ88749.1.
    CH471065 Genomic DNA. Translation: EAW67481.1.
    EF444994 Genomic DNA. Translation: ACA06014.1.
    BC029485 mRNA. Translation: AAH29485.1.
    AL110261 mRNA. Translation: CAB53702.1.
    CCDSiCCDS8420.1.
    PIRiT14782.
    RefSeqiNP_001265360.1. NM_001278431.1.
    NP_056460.1. NM_015645.4.
    UniGeneiHs.632102.

    Genome annotation databases

    EnsembliENST00000528368; ENSP00000431140; ENSG00000223953.
    GeneIDi114902.
    KEGGihsa:114902.

    Polymorphism databases

    DMDMi20177861.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF329841 mRNA. Translation: AAK17965.1 .
    AJ862823 mRNA. Translation: CAH93522.1 .
    AY358383 mRNA. Translation: AAQ88749.1 .
    CH471065 Genomic DNA. Translation: EAW67481.1 .
    EF444994 Genomic DNA. Translation: ACA06014.1 .
    BC029485 mRNA. Translation: AAH29485.1 .
    AL110261 mRNA. Translation: CAB53702.1 .
    CCDSi CCDS8420.1.
    PIRi T14782.
    RefSeqi NP_001265360.1. NM_001278431.1.
    NP_056460.1. NM_015645.4.
    UniGenei Hs.632102.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4F3J X-ray 1.34 A 103-243 [» ]
    4NN0 X-ray 1.42 A/B/C 103-243 [» ]
    ProteinModelPortali Q9BXJ0.
    SMRi Q9BXJ0. Positions 103-243.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123684. 1 interaction.
    125392. 1 interaction.
    STRINGi 9606.ENSP00000402389.

    Polymorphism databases

    DMDMi 20177861.

    Proteomic databases

    PaxDbi Q9BXJ0.
    PRIDEi Q9BXJ0.

    Protocols and materials databases

    DNASUi 83552.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000528368 ; ENSP00000431140 ; ENSG00000223953 .
    GeneIDi 114902.
    KEGGi hsa:114902.

    Organism-specific databases

    CTDi 114902.
    GeneCardsi GC11M119243.
    HGNCi HGNC:14344. C1QTNF5.
    HPAi CAB025607.
    HPA038604.
    MIMi 605670. phenotype.
    608752. gene.
    neXtProti NX_Q9BXJ0.
    Orphaneti 67042. Late-onset retinal degeneration.
    PharmGKBi PA30776.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG119645.
    HOGENOMi HOG000085653.
    HOVERGENi HBG108220.
    InParanoidi Q9BXJ0.
    OMAi INEQGHY.
    OrthoDBi EOG70ZZPW.
    PhylomeDBi Q9BXJ0.
    TreeFami TF329591.

    Miscellaneous databases

    GeneWikii C1QTNF5.
    GenomeRNAii 114902.
    NextBioi 72501.
    PROi Q9BXJ0.
    SOURCEi Search...

    Gene expression databases

    CleanExi HS_C1QTNF5.
    Genevestigatori Q9BXJ0.

    Family and domain databases

    Gene3Di 2.60.120.40. 1 hit.
    InterProi IPR001073. C1q.
    IPR008160. Collagen.
    IPR008983. Tumour_necrosis_fac-like_dom.
    [Graphical view ]
    Pfami PF00386. C1q. 1 hit.
    PF01391. Collagen. 1 hit.
    [Graphical view ]
    PRINTSi PR00007. COMPLEMNTC1Q.
    SMARTi SM00110. C1Q. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49842. SSF49842. 1 hit.
    PROSITEi PS50871. C1Q. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Homo sapiens complement-c1q tumor necrosis factor-related protein."
      Sheppard P.O., Humes J.M.
      Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Characterization of bicistronic genes involved in retinal diseases."
      Mandal M.A., Ayyagari R.
      Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. NHLBI resequencing and genotyping service (RS&G)
      Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    7. "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], VARIANT ARG-44.
      Tissue: Brain.
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 25-243.
      Tissue: Uterus.
    9. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
      Zhang Z., Henzel W.J.
      Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 16-30.
    10. "Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration."
      Tu X., Palczewski K.
      J. Struct. Biol. 180:439-446(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.34 ANGSTROMS) OF 103-243, SUBUNIT, VARIANT LORD ARG-163.
    11. "Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration."
      Hayward C., Shu X., Cideciyan A.V., Lennon A., Barran P., Zareparsi S., Sawyer L., Hendry G., Dhillon B., Milam A.H., Luthert P.J., Swaroop A., Hastie N.D., Jacobson S.G., Wright A.F.
      Hum. Mol. Genet. 12:2657-2667(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LORD ARG-163.

    Entry informationi

    Entry nameiC1QT5_HUMAN
    AccessioniPrimary (citable) accession number: Q9BXJ0
    Secondary accession number(s): A6NDD3
    , B0YJ35, Q335M2, Q8N6P2, Q9UFX4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 16, 2002
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 120 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

    Miscellaneous

    This protein is produced by a bicistronic gene which also produces the MFRP protein from a non-overlapping reading frame.

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: 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