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Protein

Complement C1q tumor necrosis factor-related protein 5

Gene

C1QTNF5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 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 Componenti: 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: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Late-onset retinal degeneration (LORD)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAutosomal 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.

See also OMIM:605670
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 – 1095Combined sources
Beta strandi119 – 1213Combined sources
Beta strandi127 – 1304Combined sources
Turni138 – 1414Combined sources
Beta strandi142 – 1443Combined sources
Beta strandi149 – 17022Combined sources
Beta strandi173 – 1808Combined sources
Beta strandi189 – 19911Combined sources
Beta strandi204 – 2085Combined sources
Beta strandi215 – 2184Combined sources
Beta strandi226 – 23510Combined sources
Turni240 – 2423Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
GeneTreeiENSGT00760000118830.
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

        10         20         30         40         50
MRPLLVLLLL GLAAGSPPLD DNKIPSLCPG HPGLPGTPGH HGSQGLPGRD
60 70 80 90 100
GRDGRDGAPG APGEKGEGGR PGLPGPRGDP GPRGEAGPAG PTGPAGECSV
110 120 130 140 150
PPRSAFSAKR SESRVPPPSD APLPFDRVLV NEQGHYDAVT GKFTCQVPGV
160 170 180 190 200
YYFAVHATVY RASLQFDLVK NGESIASFFQ FFGGWPKPAS LSGGAMVRLE
210 220 230 240
PEDQVWVQVG VGDYIGIYAS IKTDSTFSGF LVYSDWHSSP VFA
Length:243
Mass (Da):25,298
Last modified:May 31, 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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

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

Polymorphism databases

DMDMi20177861.

Proteomic databases

PaxDbiQ9BXJ0.
PRIDEiQ9BXJ0.

Protocols and materials databases

DNASUi83552.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi114902.
GeneCardsiGC11M119217.
HGNCiHGNC:14344. C1QTNF5.
HPAiCAB025607.
HPA038604.
MIMi605670. phenotype.
608752. gene.
neXtProtiNX_Q9BXJ0.
Orphaneti67042. Late-onset retinal degeneration.
PharmGKBiPA30776.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG119645.
GeneTreeiENSGT00760000118830.
HOGENOMiHOG000085653.
HOVERGENiHBG108220.
InParanoidiQ9BXJ0.
OMAiINEQGHY.
OrthoDBiEOG70ZZPW.
PhylomeDBiQ9BXJ0.
TreeFamiTF329591.

Miscellaneous databases

GeneWikiiC1QTNF5.
GenomeRNAii114902.
NextBioi72501.
PROiQ9BXJ0.
SOURCEiSearch...

Gene expression databases

CleanExiHS_C1QTNF5.
GenevestigatoriQ9BXJ0.

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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Homo sapiens complement-c1q tumor necrosis factor-related protein."
    Sheppard P.O., Humes J.M.
    Submitted (NOV-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 (OCT-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 (JAN-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(2003) [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(2003) [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(2011) [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(2002) [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 15, 2002
Last sequence update: May 31, 2001
Last modified: March 3, 2015
This is version 124 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.