Q9H0A9 (CU056_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Uncharacterized protein C21orf56

Gene names

Name:

C21orf56

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	340 AA.
Sequence status	Complete.
Protein existence	Evidence 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 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: 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 340	340	Uncharacterized protein C21orf56		PRO_0000079519
Regions
	Compositional bias	320 – 323	4	Poly-Leu
Natural variations
	Alternative sequence	1 – 154	154	Missing in isoform 2.		VSP_039151
	Natural variant	113	1	P → L. Corresponds to variant rs884134 [ dbSNP | Ensembl ].		VAR_059639
	Natural variant	298	1	S → N. Corresponds to variant rs14378 [ dbSNP | Ensembl ].		VAR_059640

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: AE8E79F7E5B50644	FASTA	340	37,613
	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
	Isoform 2 [UniParc]. Checksum: 56342795E99552E8	FASTA	186	21,049
	10 20 30 40 50 60 MVRPKKVCFS ESSLPTGDRT RRSYYLNEIQ SFAGAEKDAR VVGEIAFQLD RRILAYVFPG 70 80 90 100 110 120 VTRLYGFTVA NIPEKIEQTS TKSLDGSVDE RKLRELTQRY LALSARLEKL GYSRDVHPAF 130 140 150 160 170 180 SEFLINTYGI LKQRPDLRAN PLHSSPAALR KLVIDVVPPK FLGDSLLLLN CLCELSKEDG KPLFAW

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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.
IPI	IPI00031044. IPI00908345.
RefSeq	NP_001136326.1. NM_001142854.1. NP_115637.3. NM_032261.4.
UniGene	Hs.381214.
3D structure databases
ProteinModelPortal	Q9H0A9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H0A9. 1 interaction.
STRING	Q9H0A9.
PTM databases
PhosphoSite	Q9H0A9.
Polymorphism databases
DMDM	296439382.
Proteomic databases
PRIDE	Q9H0A9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000291672; ENSP00000291672; ENSG00000160284.
GeneID	84221.
KEGG	hsa:84221.
UCSC	uc002zii.1. human.
Organism-specific databases
CTD	84221.
GeneCards	GC21M047581.
HGNC	HGNC:1298. C21orf56.
HPA	HPA018979. HPA019165. HPA029394.
MIM	612412. gene.
neXtProt	NX_Q9H0A9.
PharmGKB	PA25851.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG05903.
GeneTree	ENSGT00520000055666.
HOGENOM	HBG125026.
HOVERGEN	HBG051233.
InParanoid	Q9H0A9.
OMA	LNEIQSF.
PhylomeDB	Q9H0A9.
Gene expression databases
ArrayExpress	Q9H0A9.
Bgee	Q9H0A9.
CleanEx	HS_C21orf56.
Genevestigator	Q9H0A9.
GermOnline	ENSG00000160284. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
NextBio	73652.
SOURCE	Search...

Entry information

Entry name

CU056_HUMAN

Accession

Primary (citable) accession number: Q9H0A9
Secondary accession number(s): B4E323 , 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 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.