Reviewed, UniProtKB/Swiss-Prot Q9BXJ0 (C1QT5_HUMAN)

Names and origin

Protein names

Recommended name:
    Complement C1q tumor necrosis factor-related protein 5

Gene names

Name:	C1QTNF5
Synonyms:	CTRP5
ORF Names:	UNQ303/PRO344

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	243 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Subcellular location	Secreted Probable.
Involvement in disease	Defects in C1QTNF5 are a cause of late-onset retinal degeneration (LORD) [MIM:605670]. LORD is an 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. Ref.10
Sequence similarities	Contains 1 C1q domain. Contains 1 collagen-like domain.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Collagen Signal
Technical term	Complete proteome Direct protein sequencing
Gene Ontology (GO)
Cellular component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 15	15	Ref.9
	Chain	16 – 243	228	Complement C1q tumor necrosis factor-related protein 5		PRO_0000003535
Regions
	Domain	30 – 95	66	Collagen-like
	Domain	99 – 243	145	C1q
Natural variations
	Natural variant	44	1	Q → R: dbSNP rs11538245. Ref.7		VAR_032628
	Natural variant	163	1	S → R in LORD. Ref.10		VAR_032629

Sequences

	Sequence		Length	Mass (Da)
	Q9BXJ0-1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: 7CCDA65CDA7EB784	FASTA	243	25,298
	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

References

	« Hide 'large scale' referencesShow '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. , 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: 12975309] [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. , 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: 16554811] [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. , 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: 15489334] [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: 17974005] [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: 15340161] [Abstract] Cited for: PROTEIN SEQUENCE OF 16-30.
[10]	"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: 12944416] [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.
IPI	IPI00024105.
PIR	T14782.
RefSeq	NP_056460.1. NP_113621.1.
UniGene	Hs.632102
3D structure databases
SMR	Q9BXJ0. Positions 28-67, 29-96, 103-234.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9BXJ0.
Proteomic databases
PRIDE	Q9BXJ0.
Genome annotation databases
Ensembl	ENST00000445041; ENSP00000402389; ENSG00000223953; Homo sapiens. [Genome view]
GeneID	114902. 83552.
KEGG	hsa:114902. hsa:83552.
UCSC	uc001pwi.1. human.
Organism-specific databases
CTD	114902. 83552.
GeneCards	GC11M118715.
H-InvDB	HIX0010193.
HGNC	HGNC:14344. C1QTNF5.
MIM	605670. phenotype. 608752. gene.
Orphanet	67042. Retinal degeneration, late-onset.
PharmGKB	PA25632.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10336.
HOGENOM	HBG444750.
HOVERGEN	Q9BXJ0.
InParanoid	Q9BXJ0.
OMA	LYYFAVH.
OrthoDB	EOG9DV85Z.
Gene expression databases
ArrayExpress	Q9BXJ0.
Bgee	Q9BXJ0.
CleanEx	HS_C1QTNF5.
Genevestigator	Q9BXJ0.
GermOnline	ENSG00000184824. Homo sapiens.
Family and domain databases
InterPro	IPR001073. C1q. IPR008160. Collagen. IPR008983. Tumour_necrosis_fac-like. [Graphical view]
Gene3D	G3DSA:2.60.120.40. Tumour_necrosis_fac-like. 1 hit.
Pfam	PF00386. C1q. 1 hit. PF01391. Collagen. 1 hit. [Graphical view]
PRINTS	PR00007. COMPLEMNTC1Q.
SMART	SM00110. C1Q. 1 hit. [Graphical view]
PROSITE	PS50871. C1Q. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	79416.
SOURCE	Search...

Entry information

Entry name

C1QT5_HUMAN

Accession

Primary (citable) accession number: Q9BXJ0
Secondary accession number(s): A6NDD3 , B0YJ35, Q335M2, Q8N6P2, Q9UFX4

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 16, 2002
Last sequence update:	June 1, 2001
Last modified:	January 19, 2010
This is version 75 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.