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Q9H0A9 (CU056_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Uncharacterized protein C21orf56
Gene names
Name:C21orf56
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length340 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Miscellaneous

Highly variable expression among individuals is associated with differential sensitivity to the DNA alkylating agent N-methyl-N'-nitro-N-nitrosoguanidine (MNNG), decreased expression being associated with increased sensitivity.

Sequence caution

The sequence BAA95497.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   Technical termComplete 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: Q9H0A9-1)

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: Q9H0A9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-154: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 340340Uncharacterized protein C21orf56
PRO_0000079519

Regions

Compositional bias320 – 3234Poly-Leu

Natural variations

Alternative sequence1 – 154154Missing in isoform 2.
VSP_039151
Natural variant1131P → L.
Corresponds to variant rs884134 [ dbSNP | Ensembl ].
VAR_059639
Natural variant2981S → N.
Corresponds to variant rs14378 [ dbSNP | Ensembl ].
VAR_059640

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: AE8E79F7E5B50644

FASTA34037,613
        10         20         30         40         50         60 
MAEGGELMSR LLSENADLKK QVRLLKENQM LRRLLSQSCQ EGGGHDLLPP RAHAYPEAGS 

        70         80         90        100        110        120 
PGSGVPDFGR FTSVADTPSQ LQTSSLEDLL CSHAPLSSED DTSPGCAAPS QAPFKAFLSP 

       130        140        150        160        170        180 
PEPHSHRGTD RKLSPLLSPL QDSLVDKTLL EPREMVRPKK VCFSESSLPT GDRTRRSYYL 

       190        200        210        220        230        240 
NEIQSFAGAE KDARVVGEIA FQLDRRILAY VFPGVTRLYG FTVANIPEKI EQTSTKSLDG 

       250        260        270        280        290        300 
SVDERKLREL TQRYLALSAR LEKLGYSRDV HPAFSEFLIN TYGILKQRPD LRANPLHSSP 

       310        320        330        340 
AALRKLVIDV VPPKFLGDSL LLLNCLCELS KEDGKPLFAW 

« Hide

Isoform 2 [UniParc].

Checksum: 56342795E99552E8
Show »

FASTA18621,049

References

« Hide 'large scale' references
[1]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Testis.
[2]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[3]"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. expand/collapse author list , 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: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Uterus.
[4]"The DNA sequence of human chromosome 21."
Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. expand/collapse author list , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
Nature 405:311-319(2000) [PubMed: 10830953] [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. expand/collapse author list , 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].
[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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Brain, Eye, Mammary gland and Ovary.
[7]"Genomic predictors of interindividual differences in response to DNA damaging agents."
Fry R.C., Svensson J.P., Valiathan C., Wang E., Hogan B.J., Bhattacharya S., Bugni J.M., Whittaker C.A., Samson L.D.
Genes Dev. 22:2621-2626(2008) [PubMed: 18805990] [Abstract]
Cited for: ASSOCIATION WITH SENSITIVITY TO ALKYLATING AGENTS.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AL136871 mRNA. Translation: CAB66805.1.
CR533451 mRNA. Translation: CAG38482.1.
AK304535 mRNA. Translation: BAG65335.1.
AP001468 Genomic DNA. No translation available.
AP001759 Genomic DNA. Translation: BAA95497.1. Sequence problems.
CH471079 Genomic DNA. Translation: EAX09307.1.
BC009497 mRNA. Translation: AAH09497.3.
BC065570 mRNA. Translation: AAH65570.2.
BC084577 mRNA. Translation: AAH84577.1.
BC093804 mRNA. Translation: AAH93804.2.
BC112293 mRNA. Translation: AAI12294.2.
IPIIPI00031044.
IPI00908345.
RefSeqNP_001136326.1. NM_001142854.1.
NP_115637.3. NM_032261.4.
UniGeneHs.381214.

3D structure databases

ProteinModelPortalQ9H0A9.
ModBaseSearch...

Protein-protein interaction databases

IntActQ9H0A9. 1 interaction.
STRINGQ9H0A9.

PTM databases

PhosphoSiteQ9H0A9.

Polymorphism databases

DMDM296439382.

Proteomic databases

PRIDEQ9H0A9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000291672; ENSP00000291672; ENSG00000160284.
GeneID84221.
KEGGhsa:84221.
UCSCuc002zii.1. human.

Organism-specific databases

CTD84221.
GeneCardsGC21M047581.
HGNCHGNC:1298. C21orf56.
HPAHPA018979.
HPA019165.
HPA029394.
MIM612412. gene.
neXtProtNX_Q9H0A9.
PharmGKBPA25851.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG05903.
GeneTreeENSGT00520000055666.
HOGENOMHBG125026.
HOVERGENHBG051233.
InParanoidQ9H0A9.
OMALNEIQSF.
PhylomeDBQ9H0A9.

Gene expression databases

ArrayExpressQ9H0A9.
BgeeQ9H0A9.
CleanExHS_C21orf56.
GenevestigatorQ9H0A9.
GermOnlineENSG00000160284. Homo sapiens.

Family and domain databases

ProtoNetSearch...

Other

NextBio73652.
SOURCESearch...

Entry information

Entry nameCU056_HUMAN
AccessionPrimary (citable) accession number: Q9H0A9
Secondary accession number(s): B4E323 expand/collapse secondary AC list , Q52LS9, Q6FIH5, Q6P0L3, Q9NSE5
Entry history
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: May 18, 2010
Last modified: January 25, 2012
This is version 83 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 21

Human chromosome 21: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot