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Q9BXJ0

- C1QT5_HUMAN

UniProt

Q9BXJ0 - C1QT5_HUMAN

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Protein

Complement C1q tumor necrosis factor-related protein 5

Gene
C1QTNF5, CTRP5, UNQ303/PRO344
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

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 Inferred

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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.1 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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini30 – 9566Collagen-likeAdd
BLAST
Domaini99 – 238140C1qAdd
BLAST

Sequence similaritiesi

Contains 1 C1q domain.

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

« Hide

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

EnsembliENST00000445041; ENSP00000402389; ENSG00000223953.
ENST00000528368; 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 ENST00000445041 ; ENSP00000402389 ; ENSG00000223953 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 119 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

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