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Q9BXJ0 (C1QT5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 118. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Complement C1q tumor necrosis factor-related protein 5
Gene names
Name:C1QTNF5
Synonyms:CTRP5
ORF Names:UNQ303/PRO344
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length243 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

May interact with FAM132B By similarity. Homotrimer (via collagen-like domain). May form higher order oligomers by supercoiling of the trimers. Ref.10

Subcellular location

Secreted Probable.

Involvement in disease

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. Ref.10 Ref.11

Miscellaneous

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

Sequence similarities

Contains 1 C1q domain.

Contains 1 collagen-like domain.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainCollagen
Signal
   Technical term3D-structure
Complete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Cellular_componentcollagen trimer

Inferred from electronic annotation. Source: UniProtKB-KW

extracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1515 Ref.9
Chain16 – 243228Complement C1q tumor necrosis factor-related protein 5
PRO_0000003535

Regions

Domain30 – 9566Collagen-like
Domain99 – 238140C1q

Natural variations

Natural variant441Q → R. Ref.7
Corresponds to variant rs11538245 [ dbSNP | Ensembl ].
VAR_032628
Natural variant1631S → R in LORD. Ref.10 Ref.11
VAR_032629

Secondary structure

........................ 243
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9BXJ0 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: 7CCDA65CDA7EB784

FASTA24325,298
        10         20         30         40         50         60 
MRPLLVLLLL GLAAGSPPLD DNKIPSLCPG HPGLPGTPGH HGSQGLPGRD GRDGRDGAPG 

        70         80         90        100        110        120 
APGEKGEGGR PGLPGPRGDP GPRGEAGPAG PTGPAGECSV PPRSAFSAKR SESRVPPPSD 

       130        140        150        160        170        180 
APLPFDRVLV NEQGHYDAVT GKFTCQVPGV YYFAVHATVY RASLQFDLVK NGESIASFFQ 

       190        200        210        220        230        240 
FFGGWPKPAS LSGGAMVRLE PEDQVWVQVG VGDYIGIYAS IKTDSTFSGF LVYSDWHSSP 


VFA 

« Hide

References

« Hide 'large scale' references
[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]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS8420.1.
PIRT14782.
RefSeqNP_001265360.1. NM_001278431.1.
NP_056460.1. NM_015645.4.
UniGeneHs.632102.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4F3JX-ray1.34A103-243[»]
4NN0X-ray1.42A/B/C103-243[»]
ProteinModelPortalQ9BXJ0.
SMRQ9BXJ0. Positions 103-243.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123684. 1 interaction.
125392. 1 interaction.
STRING9606.ENSP00000402389.

Polymorphism databases

DMDM20177861.

Proteomic databases

PaxDbQ9BXJ0.
PRIDEQ9BXJ0.

Protocols and materials databases

DNASU83552.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000445041; ENSP00000402389; ENSG00000223953.
ENST00000528368; ENSP00000431140; ENSG00000223953.
GeneID114902.
KEGGhsa:114902.

Organism-specific databases

CTD114902.
GeneCardsGC11M119243.
HGNCHGNC:14344. C1QTNF5.
HPACAB025607.
HPA038604.
MIM605670. phenotype.
608752. gene.
neXtProtNX_Q9BXJ0.
Orphanet67042. Late-onset retinal degeneration.
PharmGKBPA30776.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG119645.
HOGENOMHOG000085653.
HOVERGENHBG108220.
InParanoidQ9BXJ0.
OMAINEQGHY.
OrthoDBEOG70ZZPW.
PhylomeDBQ9BXJ0.
TreeFamTF329591.

Gene expression databases

CleanExHS_C1QTNF5.
GenevestigatorQ9BXJ0.

Family and domain databases

Gene3D2.60.120.40. 1 hit.
InterProIPR001073. C1q.
IPR008160. Collagen.
IPR008983. Tumour_necrosis_fac-like_dom.
[Graphical view]
PfamPF00386. C1q. 1 hit.
PF01391. Collagen. 1 hit.
[Graphical view]
PRINTSPR00007. COMPLEMNTC1Q.
SMARTSM00110. C1Q. 1 hit.
[Graphical view]
SUPFAMSSF49842. SSF49842. 1 hit.
PROSITEPS50871. C1Q. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiC1QTNF5.
GenomeRNAi114902.
NextBio72501.
PROQ9BXJ0.
SOURCESearch...

Entry information

Entry nameC1QT5_HUMAN
AccessionPrimary (citable) accession number: Q9BXJ0
Secondary accession number(s): A6NDD3 expand/collapse secondary AC list , B0YJ35, Q335M2, Q8N6P2, Q9UFX4
Entry history
Integrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 118 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM