O43822 (CU002_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Uncharacterized protein C21orf2

Alternative name(s):
C21orf-HUMF09G8.5
YF5/A2

Gene names

Name:

C21orf2

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	256 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Plays a role in the regulation of cell morphology and cytoskeletal organization. Ref.8
Sequence similarities	Contains 3 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. To C.elegans F09G8.5.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Leucine-rich repeat Repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cytoskeleton organization Inferred from mutant phenotype Ref.8. Source: UniProtKB regulation of cell shape Inferred from mutant phenotype Ref.8. Source: UniProtKB
Cellular component	cytoplasm Inferred from direct assay Ref.8. Source: UniProtKB plasma membrane Inferred from direct assay Ref.8. Source: UniProtKB
Complete GO annotation...

Alternative products

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

Isoform Long (identifier: O43822-1)

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 Short (identifier: O43822-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: Missing.
     49-51: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 256	256	Uncharacterized protein C21orf2		PRO_0000079503
Regions
	Repeat	19 – 40	22	LRR 1
	Repeat	41 – 62	22	LRR 2
	Repeat	63 – 84	22	LRR 3
	Domain	97 – 137	41	LRRCT
Amino acid modifications
	Modified residue	102	1	Phosphothreonine Ref.7
	Modified residue	136	1	Phosphoserine Ref.7
	Modified residue	177	1	Phosphoserine Ref.7
	Modified residue	201	1	Phosphoserine Ref.7
	Modified residue	238	1	Phosphothreonine Ref.7
Natural variations
	Alternative sequence	1 – 38	38	Missing in isoform Short.		VSP_004138
	Alternative sequence	49 – 51	3	Missing in isoform Short.		VSP_004139
	Natural variant	150	1	T → I. Ref.2 Corresponds to variant rs2277809 [ dbSNP | Ensembl ].		VAR_016155
	Natural variant	153	1	G → S. Corresponds to variant rs9306099 [ dbSNP | Ensembl ].		VAR_050927
Experimental info
	Sequence conflict	106	1	R → A in AAB46590. Ref.3
	Sequence conflict	106	1	R → A in AAB46591. Ref.3
	Sequence conflict	183	1	Missing in AAB46590. Ref.3
	Sequence conflict	183	1	Missing in AAB46591. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified June 1, 1998. Version 1. Checksum: D33F31EDAEA77D2A	FASTA	256	28,340
	10 20 30 40 50 60 MKLTRKMVLT RAKASELHSV RKLNCWGSRL TDISICQEMP SLEVITLSVN SISTLEPVSR 70 80 90 100 110 120 CQRLSELYLR RNRIPSLAEL FYLKGLPRLR VLWLAENPCC GTSPHRYRMT VLRTLPRLQK 130 140 150 160 170 180 LDNQAVTEEE LSRALSEGEE ITAAPEREGT GHGGPKLCCT LSSLSSAAET GRDPLDSEEE 190 200 210 220 230 240 ATSGAQDERG LKPPSRGQFP SLSARDASSS HRGRNVLTAI LLLLRELDAE GLEAVQQTVG 250 SRLQALRGEE VQEHAE
	Isoform Short [UniParc]. Checksum: FB0E3948D4D824FC	FASTA	215	23,654
	10 20 30 40 50 60 MPSLEVITLS ISTLEPVSRC QRLSELYLRR NRIPSLAELF YLKGLPRLRV LWLAENPCCG 70 80 90 100 110 120 TSPHRYRMTV LRTLPRLQKL DNQAVTEEEL SRALSEGEEI TAAPEREGTG HGGPKLCCTL 130 140 150 160 170 180 SSLSSAAETG RDPLDSEEEA TSGAQDERGL KPPSRGQFPS LSARDASSSH RGRNVLTAIL 190 200 210 LLLRELDAEG LEAVQQTVGS RLQALRGEEV QEHAE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis." Scott H.S., Kyriakou D.S., Peterson P., Heino M., Tahtinen M., Krohn K., Chen H., Rossier C., Lalioti M.D., Antonarakis S.E. Genomics 47:64-70(1998) [PubMed: 9465297] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Lung and Pancreas.
[2]	"Isolation of candidate genes mapping in the APECED disease (PGD type I) region on Human chromosome 21q22.3." Thiel C., Lehrach H., Yaspo M.-L. Submitted (SEP-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ILE-150. Tissue: Lung.
[3]	"Characterization of alternatively spliced human YF5 and A2 cDNAs." Pruijn G.J.M., Misaki Y., van Venrooij W.J. Submitted (FEB-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT). Tissue: Placenta and Teratocarcinoma.
[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 LONG). Tissue: Ovary.
[7]	"Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed: 19369195] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-102; SER-136; SER-177; SER-201 AND THR-238, MASS SPECTROMETRY.
[8]	"Identification and characterization of a set of conserved and new regulators of cytoskeletal organisation, cell morphology and migration." Bai S.W., Herrera-Abreu M.T., Rohn J.L., Racine V., Tajadura V., Suryavanshi N., Bechtel S., Wiemann S., Baum B., Ridley A.J. BMC Biol. 9:54-54(2011) [PubMed: 21834987] [Abstract] Cited for: FUNCTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	Y11392 mRNA. Translation: CAA72202.1. Z93322 mRNA. Translation: CAB07532.1. U84569 mRNA. Translation: AAB46590.1. U84570 mRNA. Translation: AAB46591.1. AP001062 Genomic DNA. No translation available. AP001754 Genomic DNA. Translation: BAA95562.1. CH471079 Genomic DNA. Translation: EAX09434.1. BC072012 mRNA. Translation: AAH72012.1.
IPI	IPI00014472. IPI00884002.
RefSeq	NP_004919.1. NM_004928.2.
UniGene	Hs.517331.
3D structure databases
ProteinModelPortal	O43822.
SMR	O43822. Positions 1-134, 223-253.
ModBase	Search...
Protein-protein interaction databases
IntAct	O43822. 1 interaction.
STRING	O43822.
Proteomic databases
PRIDE	O43822.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000339818; ENSP00000344566; ENSG00000160226.
GeneID	755.
KEGG	hsa:755.
NMPDR	fig|9606.3.peg.21070.
UCSC	uc002zeo.1. human. uc002zep.2. human.
Organism-specific databases
CTD	755.
GeneCards	GC21M045749.
HGNC	HGNC:1260. C21orf2.
HPA	CAB034126. CAB034128. HPA030284.
MIM	603191. gene.
neXtProt	NX_O43822.
PharmGKB	PA25816.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG11189.
GeneTree	ENSGT00390000018807.
HOVERGEN	HBG051221.
OrthoDB	EOG4TB4CF.
Gene expression databases
ArrayExpress	O43822.
Bgee	O43822.
CleanEx	HS_C21orf2.
Genevestigator	O43822.
GermOnline	ENSG00000160226. Homo sapiens.
Family and domain databases
InterPro	IPR001611. Leu-rich_rpt. IPR003603. U2A'_phosphoprotein32A_C. [Graphical view]
SMART	SM00446. LRRcap. 1 hit. [Graphical view]
PROSITE	PS51450. LRR. 2 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	3056.
SOURCE	Search...

Entry information

Entry name

CU002_HUMAN

Accession

Primary (citable) accession number: O43822
Secondary accession number(s): A8MPS9 , O14993, Q99837, Q99838

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	June 1, 1998
Last modified:	January 25, 2012
This is version 92 of the entry and version 1 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.