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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: 4 out of 5-Experimental evidence at protein leveli

Functioni

Miscellaneous

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

GO - Molecular functioni

GO - Biological processi

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
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:14344. C1QTNF5.

Subcellular locationi

GO - Cellular componenti

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_032629163S → R in LORD. 2 PublicationsCorresponds to variant dbSNP:rs111033578Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi114902.
MalaCardsiC1QTNF5.
MIMi605670. phenotype.
OpenTargetsiENSG00000223953.
Orphaneti67042. Late-onset retinal degeneration.
PharmGKBiPA30776.

Polymorphism and mutation databases

DMDMi20177861.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 151 PublicationAdd BLAST15
ChainiPRO_000000353516 – 243Complement C1q tumor necrosis factor-related protein 5Add BLAST228

Proteomic databases

PaxDbiQ9BXJ0.
PeptideAtlasiQ9BXJ0.
PRIDEiQ9BXJ0.

PTM databases

iPTMnetiQ9BXJ0.
PhosphoSitePlusiQ9BXJ0.

Expressioni

Gene expression databases

BgeeiENSG00000223953.
CleanExiHS_C1QTNF5.
ExpressionAtlasiQ9BXJ0. baseline.
GenevisibleiQ9BXJ0. HS.

Organism-specific databases

HPAiCAB025607.
HPA038604.

Interactioni

Subunit structurei

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi125392. 1 interactor.
STRINGi9606.ENSP00000402389.

Structurei

Secondary structure

1243
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi105 – 109Combined sources5
Beta strandi119 – 121Combined sources3
Beta strandi127 – 130Combined sources4
Turni138 – 141Combined sources4
Beta strandi142 – 144Combined sources3
Beta strandi149 – 170Combined sources22
Beta strandi173 – 180Combined sources8
Beta strandi189 – 199Combined sources11
Beta strandi204 – 208Combined sources5
Beta strandi215 – 218Combined sources4
Beta strandi226 – 235Combined sources10
Turni240 – 242Combined sources3

3D structure databases

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

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini30 – 95Collagen-likeAdd BLAST66
Domaini99 – 238C1qPROSITE-ProRule annotationAdd BLAST140

Keywords - Domaini

Collagen, Signal

Phylogenomic databases

eggNOGiENOG410IHSH. Eukaryota.
ENOG410YPYW. LUCA.
GeneTreeiENSGT00760000118830.
HOGENOMiHOG000085653.
HOVERGENiHBG108220.
InParanoidiQ9BXJ0.
OMAiSDWKNSA.
OrthoDBiEOG091G0L3Y.
PhylomeDBiQ9BXJ0.
TreeFamiTF329591.

Family and domain databases

Gene3Di2.60.120.40. 1 hit.
InterProiView protein in InterPro
IPR001073. C1q_dom.
IPR008160. Collagen.
IPR008983. Tumour_necrosis_fac-like_dom.
PfamiView protein in Pfam
PF00386. C1q. 1 hit.
PF01391. Collagen. 1 hit.
PRINTSiPR00007. COMPLEMNTC1Q.
SMARTiView protein in SMART
SM00110. C1Q. 1 hit.
SUPFAMiSSF49842. SSF49842. 1 hit.
PROSITEiView protein in PROSITE
PS50871. C1Q. 1 hit.

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:June 1, 2001 - v1
Checksum:i7CCDA65CDA7EB784
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03262844Q → R1 PublicationCorresponds to variant dbSNP:rs11538245Ensembl.1
Natural variantiVAR_032629163S → R in LORD. 2 PublicationsCorresponds to variant dbSNP:rs111033578Ensembl.1

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.
ENST00000530681; ENSP00000456533; ENSG00000223953.
GeneIDi114902.
KEGGihsa:114902.
UCSCiuc058iiv.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiC1QT5_HUMAN
AccessioniPrimary (citable) accession number: Q9BXJ0
Secondary accession number(s): A6NDD3
, B0YJ35, Q335M2, Q8N6P2, Q9UFX4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: June 1, 2001
Last modified: August 30, 2017
This is version 144 of the entry and version 1 of the sequence. See 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, 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