O60826 (CCD22_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Coiled-coil domain-containing protein 22

Gene names

Name:	CCDC22
Synonyms:	CXorf37
ORF Names:	JM1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	627 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Polymorphism
Disease	Mental retardation
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 627	627	Coiled-coil domain-containing protein 22		PRO_0000076199
Regions
	Coiled coil	447 – 535	89	Potential
Amino acid modifications
	Modified residue	410	1	Phosphoserine Ref.4
Natural variations
	Natural variant	17	1	T → 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 conflict	412	1	Q → R in BAF84665. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	O60826 [UniParc]. Last modified August 1, 1998. Version 1. Checksum: C3704BBCD9EA0386	FASTA	627	70,756
	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

References

	« Hide 'large scale' referencesShow '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. , 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, MASS SPECTROMETRY. 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. School of Medicine, University of California, Los Angeles, CA, USA." 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.
IPI	IPI00022265.
RefSeq	NP_054727.1. NM_014008.3.
UniGene	Hs.26333.
3D structure databases
ProteinModelPortal	O60826.
ModBase	Search...
Protein-protein interaction databases
IntAct	O60826. 1 interaction.
STRING	9606.ENSP00000365401.
PTM databases
PhosphoSite	O60826.
Proteomic databases
PaxDb	O60826.
PeptideAtlas	O60826.
PRIDE	O60826.
Protocols and materials databases
DNASU	28952.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000376227; ENSP00000365401; ENSG00000101997. ENST00000599730; ENSP00000472278; ENSG00000268501.
GeneID	28952.
KEGG	hsa:28952.
UCSC	uc004dnd.2. human.
Organism-specific databases
CTD	28952.
GeneCards	GC0XP049092.
HGNC	HGNC:28909. CCDC22.
HPA	HPA000888.
MIM	300859. gene.
neXtProt	NX_O60826.
PharmGKB	PA134947763.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG253647.
HOGENOM	HOG000039965.
HOVERGEN	HBG053063.
InParanoid	O60826.
OMA	KPFHASR.
OrthoDB	EOG43JC4C.
PhylomeDB	O60826.
Gene expression databases
Bgee	O60826.
CleanEx	HS_CCDC22.
Genevestigator	O60826.
GermOnline	ENSG00000101997. Homo sapiens.
Family and domain databases
InterPro	IPR008530. DUF812. [Graphical view]
PANTHER	PTHR15668. PTHR15668. 1 hit.
Pfam	PF05667. DUF812. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	28952.
NextBio	51765.
SOURCE	Search...

Entry information

Entry name

CCD22_HUMAN

Accession

Primary (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:	May 1, 2013
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.