Q9BUV0 (CA063_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
UPF0471 protein C1orf63

Gene names

Name:	C1orf63
ORF Names:	HT033, NPD014

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	290 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities

Belongs to the UPF0471 family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BUV0-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Note: No experimental confirmation available.

Isoform 2 (identifier: Q9BUV0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     225-290: LSEKVTEDGT...KSPYGLWIPI → VSILGLSEQNFQKANCQI

Isoform 3 (identifier: Q9BUV0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     225-226: LS → KS
     227-290: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 290	290	UPF0471 protein C1orf63		PRO_0000297617
Regions
	Compositional bias	29 – 169	141	Arg-rich
Amino acid modifications
	Modified residue	107	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	225 – 290	66	LSEKV…LWIPI → VSILGLSEQNFQKANCQI in isoform 2.		VSP_027305
	Alternative sequence	225 – 226	2	LS → KS in isoform 3.		VSP_027306
	Alternative sequence	227 – 290	64	Missing in isoform 3.		VSP_027307
	Natural variant	147	1	Y → H. Corresponds to variant rs34619962 [ dbSNP | Ensembl ].		VAR_034655
	Natural variant	239	1	E → G. Ref.6 Corresponds to variant rs1043879 [ dbSNP | Ensembl ].		VAR_034656

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 21, 2007. Version 2. Checksum: E729EA9895672216	FASTA	290	33,613
	10 20 30 40 50 60 MSNYVNDMWP GSPQEKDSPS TSRSGGSSRL SSRSRSRSFS RSSRSHSRVS SRFSSRSRRS 70 80 90 100 110 120 KSRSRSRRRH QRKYRRYSRS YSRSRSRSRS RRYRERRYGF TRRYYRSPSR YRSRSRSRSR 130 140 150 160 170 180 SRGRSYCGRA YAIARGQRYY GFGRTVYPEE HSRWRDRSRT RSRSRTPFRL SEKDRMELLE 190 200 210 220 230 240 IAKTNAAKAL GTTNIDLPAS LRTVPSAKET SRGIGVSSNG AKPELSEKVT EDGTRNPNEK 250 260 270 280 290 PTQQRSIAFS SNNSVAKPIQ KSAKAATEEA SSRSPKIDQK KSPYGLWIPI
	Isoform 2 [UniParc]. Checksum: CCB829DCFDE406A4	FASTA	242	28,364
	10 20 30 40 50 60 MSNYVNDMWP GSPQEKDSPS TSRSGGSSRL SSRSRSRSFS RSSRSHSRVS SRFSSRSRRS 70 80 90 100 110 120 KSRSRSRRRH QRKYRRYSRS YSRSRSRSRS RRYRERRYGF TRRYYRSPSR YRSRSRSRSR 130 140 150 160 170 180 SRGRSYCGRA YAIARGQRYY GFGRTVYPEE HSRWRDRSRT RSRSRTPFRL SEKDRMELLE 190 200 210 220 230 240 IAKTNAAKAL GTTNIDLPAS LRTVPSAKET SRGIGVSSNG AKPEVSILGL SEQNFQKANC QI
	Isoform 3 [UniParc]. Checksum: FA6252B925D84FDC	FASTA	226	26,605
	10 20 30 40 50 60 MSNYVNDMWP GSPQEKDSPS TSRSGGSSRL SSRSRSRSFS RSSRSHSRVS SRFSSRSRRS 70 80 90 100 110 120 KSRSRSRRRH QRKYRRYSRS YSRSRSRSRS RRYRERRYGF TRRYYRSPSR YRSRSRSRSR 130 140 150 160 170 180 SRGRSYCGRA YAIARGQRYY GFGRTVYPEE HSRWRDRSRT RSRSRTPFRL SEKDRMELLE 190 200 210 220 IAKTNAAKAL GTTNIDLPAS LRTVPSAKET SRGIGVSSNG AKPEKS

References

[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Embryo and Testis.
[2]	"A novel gene expressed in the human pituitary gland." Song H., Gao G., Peng Y., Ren S., Chen Z., Han Z. Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Pituitary.
[3]	Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z. Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Hypothalamus.
[4]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(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. , 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]	"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] (ISOFORMS 1 AND 3), VARIANT GLY-239. Tissue: Lung, Skin and Testis.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK027318 mRNA. Translation: BAB55038.1. AK292532 mRNA. Translation: BAF85221.1. AF247168 mRNA. Translation: AAG44543.1. AF267856 mRNA. Translation: AAG44725.1. AL031432 Genomic DNA. Translation: CAB37992.1. CH471134 Genomic DNA. Translation: EAW95157.1. BC001892 mRNA. Translation: AAH01892.1. BC041843 mRNA. Translation: AAH41843.1. BC065040 mRNA. Translation: AAH65040.1.
IPI	IPI00550808. IPI00855719. IPI00855979.
RefSeq	NP_064713.3. NM_020317.3.
UniGene	Hs.259412.
3D structure databases
ProteinModelPortal	Q9BUV0.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BUV0. 2 interactions.
MINT	MINT-1448691.
STRING	9606.ENSP00000243189.
PTM databases
PhosphoSite	Q9BUV0.
Polymorphism databases
DMDM	156630464.
Proteomic databases
PaxDb	Q9BUV0.
PRIDE	Q9BUV0.
Protocols and materials databases
DNASU	57035.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000243189; ENSP00000243189; ENSG00000117616. ENST00000431849; ENSP00000391510; ENSG00000117616. ENST00000473314; ENSP00000457582; ENSG00000117616.
GeneID	57035.
KEGG	hsa:57035.
UCSC	uc001bjw.3. human.
Organism-specific databases
CTD	57035.
GeneCards	GC01M025568.
HGNC	HGNC:25234. C1orf63.
neXtProt	NX_Q9BUV0.
PharmGKB	PA142672513.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG40356.
HOGENOM	HOG000111224.
InParanoid	Q9BUV0.
OrthoDB	EOG4N8R65.
PhylomeDB	Q9BUV0.
Gene expression databases
ArrayExpress	Q9BUV0.
Bgee	Q9BUV0.
CleanEx	HS_C1orf63.
Genevestigator	Q9BUV0.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	57035.
NextBio	62785.

Entry information

Entry name

CA063_HUMAN

Accession

Primary (citable) accession number: Q9BUV0
Secondary accession number(s): A8K917 , Q49AA4, Q5TH71, Q9GZP6

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 21, 2007
Last sequence update:	August 21, 2007
Last modified:	April 3, 2013
This is version 72 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.