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Q8N5S3

- CB073_HUMAN

UniProt

Q8N5S3 - CB073_HUMAN

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Protein

Uncharacterized protein C2orf73

Gene
C2orf73
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5 - Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Uncharacterized protein C2orf73
Gene namesi
Name:C2orf73
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:26861. C2orf73.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162379532.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 287287Uncharacterized protein C2orf73PRO_0000332213Add
BLAST

Proteomic databases

PaxDbiQ8N5S3.
PRIDEiQ8N5S3.

Expressioni

Gene expression databases

ArrayExpressiQ8N5S3.
BgeeiQ8N5S3.
CleanExiHS_C2orf73.
GenevestigatoriQ8N5S3.

Organism-specific databases

HPAiHPA055221.

Interactioni

Protein-protein interaction databases

BioGridi126212. 3 interactions.
IntActiQ8N5S3. 2 interactions.
STRINGi9606.ENSP00000381631.

Structurei

3D structure databases

ProteinModelPortaliQ8N5S3.

Family & Domainsi

Phylogenomic databases

eggNOGiNOG47758.
HOGENOMiHOG000111332.
HOVERGENiHBG107582.
InParanoidiQ8N5S3.
OMAiIHQYDAR.
PhylomeDBiQ8N5S3.
TreeFamiTF337686.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N5S3-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MEEKEDKHQQ HKIEDAAITY VSENEEIKHE EKPGKSIHHS KSHVGRGRIY    50
YAKFINTNAR TYNEPFPYID PKKGPEIQGD WWSHGKALEP VFLPPYDSKS 100
TQRSDFQKPS CPLVLPVKHS KMQKPSCGIV PLASPGTSAE LQNNFIEYIS 150
FIHQYDARKT PNEPLQGKRH GAFVQREIKP GSRPTVPKGA EVLLNTPGSR 200
SSEQSKKTEK GNSAESRMIS PGLCQQNSQE LLEPKTHLSE TDVRQAAKAC 250
PSTPESREKT SGATQTTVGD ALFTRHKPLN PPIKKSE 287
Length:287
Mass (Da):32,142
Last modified:January 11, 2011 - v3
Checksum:i9AFD7EBA65BCE7C0
GO
Isoform 2 (identifier: Q8N5S3-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:166
Mass (Da):18,091
Checksum:i3E753058BB0C4526
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti29 – 291H → N.
Corresponds to variant rs55714450 [ dbSNP | Ensembl ].
VAR_061571
Natural varianti254 – 2541P → L.3 Publications
Corresponds to variant rs2280718 [ dbSNP | Ensembl ].
VAR_042973
Natural varianti275 – 2751R → T.2 Publications
Corresponds to variant rs13184 [ dbSNP | Ensembl ].
VAR_042974

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 121121Missing in isoform 2. VSP_033353Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS46285.1. [Q8N5S3-1]
RefSeqiNP_001093866.1. NM_001100396.1. [Q8N5S3-1]
XP_005264190.1. XM_005264133.1. [Q8N5S3-2]
XP_005264191.1. XM_005264134.1. [Q8N5S3-2]
UniGeneiHs.732626.

Genome annotation databases

EnsembliENST00000398634; ENSP00000381631; ENSG00000177994. [Q8N5S3-1]
GeneIDi129852.
KEGGihsa:129852.
UCSCiuc002rxs.1. human. [Q8N5S3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS46285.1. [Q8N5S3-1 ]
RefSeqi NP_001093866.1. NM_001100396.1. [Q8N5S3-1 ]
XP_005264190.1. XM_005264133.1. [Q8N5S3-2 ]
XP_005264191.1. XM_005264134.1. [Q8N5S3-2 ]
UniGenei Hs.732626.

3D structure databases

ProteinModelPortali Q8N5S3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126212. 3 interactions.
IntActi Q8N5S3. 2 interactions.
STRINGi 9606.ENSP00000381631.

Proteomic databases

PaxDbi Q8N5S3.
PRIDEi Q8N5S3.

Protocols and materials databases

DNASUi 129852.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000398634 ; ENSP00000381631 ; ENSG00000177994 . [Q8N5S3-1 ]
GeneIDi 129852.
KEGGi hsa:129852.
UCSCi uc002rxs.1. human. [Q8N5S3-1 ]

Organism-specific databases

CTDi 129852.
GeneCardsi GC02P054557.
HGNCi HGNC:26861. C2orf73.
HPAi HPA055221.
neXtProti NX_Q8N5S3.
PharmGKBi PA162379532.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG47758.
HOGENOMi HOG000111332.
HOVERGENi HBG107582.
InParanoidi Q8N5S3.
OMAi IHQYDAR.
PhylomeDBi Q8N5S3.
TreeFami TF337686.

Miscellaneous databases

GenomeRNAii 129852.
NextBioi 82655.

Gene expression databases

ArrayExpressi Q8N5S3.
Bgeei Q8N5S3.
CleanExi HS_C2orf73.
Genevestigatori Q8N5S3.

Family and domain databases

ProtoNeti Search...

Publicationsi

  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. 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.

Entry informationi

Entry nameiCB073_HUMAN
AccessioniPrimary (citable) accession number: Q8N5S3
Secondary accession number(s): A0AV79, A0AV81, Q8N7V4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: January 11, 2011
Last modified: July 9, 2014
This is version 59 of the entry and version 3 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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

External Data

Dasty 3

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