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O60826 (CCD22_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Coiled-coil domain-containing protein 22
Gene names
Name:CCDC22
Synonyms:CXorf37
ORF Names:JM1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length627 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Interacts with CPNE1 and CPNE4 By similarity.

Tissue specificity

Widely expressed in adult tissues and in fetal liver and brain, with highest levels in prostate and lowest in skeletal muscle. Ref.6

Involvement in disease

May be involved in X-linked syndromic mental retardation (Ref.6). CCDC22 expression has been found to be down-regulated in a family with a phenotype consistent with X-linked syndromic mental retardation, and carrying variant Ala-17. In addition to intellectual disability, affected individuals have cardiac and skeletal abnormalities.

Sequence similarities

Belongs to the CCDC22 family.

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   DiseaseMental retardation
   DomainCoiled coil
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 627627Coiled-coil domain-containing protein 22
PRO_0000076199

Regions

Coiled coil447 – 53589 Potential

Amino acid modifications

Modified residue4101Phosphoserine Ref.4

Natural variations

Natural variant171T → A Found in a family affected by mental retardation; may affect splicing and/or have a negative impact on transcription efficiency. Ref.6
VAR_065912

Experimental info

Sequence conflict4121Q → R in BAF84665. Ref.2

Sequences

Sequence LengthMass (Da)Tools
O60826 [UniParc].

Last modified August 1, 1998. Version 1.
Checksum: C3704BBCD9EA0386

FASTA62770,756
        10         20         30         40         50         60 
MEEADRILIH SLRQAGTAVP PDVQTLRAFT TELVVEAVVR CLRVINPAVG SGLSPLLPLA 

        70         80         90        100        110        120 
MSARFRLAMS LAQACMDLGY PLELGYQNFL YPSEPDLRDL LLFLAERLPT DASEDADQPA 

       130        140        150        160        170        180 
GDSAILLRAI GSQIRDQLAL PWVPPHLRTP KLQHLQGSAL QKPFHASRLV VPELSSRGEP 

       190        200        210        220        230        240 
REFQASPLLL PVPTQVPQPV GRVASLLEHH ALQLCQQTGR DRPGDEDWVH RTSRLPPQED 

       250        260        270        280        290        300 
TRAQRQRLQK QLTEHLRQSW GLLGAPIQAR DLGELLQAWG AGAKTGAPKG SRFTHSEKFT 

       310        320        330        340        350        360 
FHLEPQAQAT QVSDVPATSR RPEQVTWAAQ EQELESLREQ LEGVNRSIEE VEADMKTLGV 

       370        380        390        400        410        420 
SFVQAESECR HSKLSTAERE QALRLKSRAV ELLPDGTANL AKLQLVVENS AQRVIHLAGQ 

       430        440        450        460        470        480 
WEKHRVPLLA EYRHLRKLQD CRELESSRRL AEIQELHQSV RAAAEEARRK EEVYKQLMSE 

       490        500        510        520        530        540 
LETLPRDVSR LAYTQRILEI VGNIRKQKEE ITKILSDTKE LQKEINSLSG KLDRTFAVTD 

       550        560        570        580        590        600 
ELVFKDAKKD DAVRKAYKYL AALHENCSQL IQTIEDTGTI MREVRDLEEQ IETELGKKTL 

       610        620 
SNLEKIREDY RALRQENAGL LGRVREA 

« Hide

References

« Hide 'large scale' references
[1]"Transcription map in Xp11.23."
Strom T.M., Nyakatura G., Hellebrand H., Drescher B., Rosenthal A., Meindl A.
Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Peripheral blood leukocyte.
[2]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Small intestine.
[3]"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].
Tissue: Pancreas and Placenta.
[4]"Phosphoproteome of resting human platelets."
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.
J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-410, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Platelet.
[5]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]"CCDC22: a novel candidate gene for syndromic X-linked intellectual disability."
Voineagu I., Huang L., Winden K., Lazaro M., Haan E., Nelson J., McGaughran J., Nguyen L.S., Friend K., Hackett A., Field M., Gecz J., Geschwind D.
Mol. Psychiatry 17:4-7(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ALA-17, POSSIBLE INVOLVEMENT IN X-LINKED SYNDROMIC MENTAL RETARDATION, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ005890 mRNA. Translation: CAA06747.1.
AK291976 mRNA. Translation: BAF84665.1.
BC000972 mRNA. Translation: AAH00972.1.
BC011675 mRNA. Translation: AAH11675.1.
RefSeqNP_054727.1. NM_014008.4.
UniGeneHs.26333.

3D structure databases

ProteinModelPortalO60826.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118780. 13 interactions.
IntActO60826. 1 interaction.
STRING9606.ENSP00000365401.

PTM databases

PhosphoSiteO60826.

Proteomic databases

PaxDbO60826.
PeptideAtlasO60826.
PRIDEO60826.

Protocols and materials databases

DNASU28952.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000376227; ENSP00000365401; ENSG00000101997.
ENST00000599730; ENSP00000472278; ENSG00000268501.
GeneID28952.
KEGGhsa:28952.
UCSCuc004dnd.2. human.

Organism-specific databases

CTD28952.
GeneCardsGC0XP049092.
HGNCHGNC:28909. CCDC22.
HPAHPA000888.
MIM300859. gene.
neXtProtNX_O60826.
PharmGKBPA134947763.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG253647.
HOGENOMHOG000039965.
HOVERGENHBG053063.
InParanoidO60826.
OMAECRQSEL.
OrthoDBEOG7QNVKR.
PhylomeDBO60826.
TreeFamTF325575.

Enzyme and pathway databases

SignaLinkO60826.

Gene expression databases

BgeeO60826.
CleanExHS_CCDC22.
GenevestigatorO60826.

Family and domain databases

InterProIPR008530. DUF812.
[Graphical view]
PANTHERPTHR15668. PTHR15668. 1 hit.
PfamPF05667. DUF812. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi28952.
NextBio51765.
PROO60826.
SOURCESearch...

Entry information

Entry nameCCD22_HUMAN
AccessionPrimary (citable) accession number: O60826
Secondary accession number(s): A8K7G1
Entry history
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: August 1, 1998
Last modified: April 16, 2014
This is version 100 of the entry and version 1 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

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