Q8N5S3 (CB073_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Uncharacterized protein C2orf73

Gene names

Name:

C2orf73

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	287 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence caution

The sequence AAH31669.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8N5S3-1)

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.

Isoform 2 (identifier: Q8N5S3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-121: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 287	287	Uncharacterized protein C2orf73		PRO_0000332213
Natural variations
	Alternative sequence	1 – 121	121	Missing in isoform 2.		VSP_033353
	Natural variant	29	1	H → N. Corresponds to variant rs55714450 [ dbSNP | Ensembl ].		VAR_061571
	Natural variant	254	1	P → L. Ref.1 Ref.3 Ref.4 Corresponds to variant rs2280718 [ dbSNP | Ensembl ].		VAR_042973
	Natural variant	275	1	R → T. Ref.1 Ref.3 Corresponds to variant rs13184 [ dbSNP | Ensembl ].		VAR_042974

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 11, 2011. Version 3. Checksum: 9AFD7EBA65BCE7C0	FASTA	287	32,142
	10 20 30 40 50 60 MEEKEDKHQQ HKIEDAAITY VSENEEIKHE EKPGKSIHHS KSHVGRGRIY YAKFINTNAR 70 80 90 100 110 120 TYNEPFPYID PKKGPEIQGD WWSHGKALEP VFLPPYDSKS TQRSDFQKPS CPLVLPVKHS 130 140 150 160 170 180 KMQKPSCGIV PLASPGTSAE LQNNFIEYIS FIHQYDARKT PNEPLQGKRH GAFVQREIKP 190 200 210 220 230 240 GSRPTVPKGA EVLLNTPGSR SSEQSKKTEK GNSAESRMIS PGLCQQNSQE LLEPKTHLSE 250 260 270 280 TDVRQAAKAC PSTPESREKT SGATQTTVGD ALFTRHKPLN PPIKKSE
	Isoform 2 [UniParc]. Checksum: 3E753058BB0C4526	FASTA	166	18,091
	10 20 30 40 50 60 MQKPSCGIVP LASPGTSAEL QNNFIEYISF IHQYDARKTP NEPLQGKRHG AFVQREIKPG 70 80 90 100 110 120 SRPTVPKGAE VLLNTPGSRS SEQSKKTEKG NSAESRMISP GLCQQNSQEL LEPKTHLSET 130 140 150 160 DVRQAAKACP STPESREKTS GATQTTVGDA LFTRHKPLNP PIKKSE

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), VARIANTS LEU-254 AND THR-275. Tissue: Testis.
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS LEU-254 AND THR-275.
[4]	"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 2), VARIANT LEU-254. Tissue: Brain.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK097617 mRNA. Translation: BAC05122.1. AC108929 Genomic DNA. No translation available. CH471053 Genomic DNA. Translation: EAX00150.1. BC031669 mRNA. Translation: AAH31669.1. Different initiation. BC126244 mRNA. Translation: AAI26245.1. BC126246 mRNA. Translation: AAI26247.1.
IPI	IPI00856014. IPI00872568.
RefSeq	NP_001093866.1. NM_001100396.1.
UniGene	Hs.732626.
3D structure databases
ProteinModelPortal	Q8N5S3.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8N5S3. 2 interactions.
STRING	9606.ENSP00000381631.
Proteomic databases
PaxDb	Q8N5S3.
PRIDE	Q8N5S3.
Protocols and materials databases
DNASU	129852.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000398634; ENSP00000381631; ENSG00000177994.
GeneID	129852.
KEGG	hsa:129852.
UCSC	uc002rxs.1. human.
Organism-specific databases
CTD	129852.
GeneCards	GC02P054557.
HGNC	HGNC:26861. C2orf73.
HPA	HPA055221.
neXtProt	NX_Q8N5S3.
PharmGKB	PA162379532.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG47758.
HOGENOM	HOG000111332.
HOVERGEN	HBG107582.
InParanoid	Q8N5S3.
OMA	IHQYDAR.
Gene expression databases
ArrayExpress	Q8N5S3.
Bgee	Q8N5S3.
CleanEx	HS_C2orf73.
Genevestigator	Q8N5S3.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	129852.
NextBio	82655.

Entry information

Entry name

CB073_HUMAN

Accession

Primary (citable) accession number: Q8N5S3
Secondary accession number(s): A0AV79, A0AV81, Q8N7V4

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 29, 2008
Last sequence update:	January 11, 2011
Last modified:	May 1, 2013
This is version 52 of the entry and version 3 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.