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O60826

- CCD22_HUMAN

UniProt

O60826 - CCD22_HUMAN

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Protein

Coiled-coil domain-containing protein 22

Gene

CCDC22

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Functioni

Enzyme and pathway databases

SignaLinkiO60826.

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 22
Gene namesi
Name:CCDC22
Synonyms:CXorf37
ORF Names:JM1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:28909. CCDC22.

Pathology & Biotechi

Involvement in diseasei

May be involved in X-linked syndromic mental retardation (PubMed:21826058). 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.1 Publication

Keywords - Diseasei

Mental retardation

Organism-specific databases

PharmGKBiPA134947763.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 627627Coiled-coil domain-containing protein 22PRO_0000076199Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei410 – 4101Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO60826.
PaxDbiO60826.
PeptideAtlasiO60826.
PRIDEiO60826.

PTM databases

PhosphoSiteiO60826.

Expressioni

Tissue specificityi

Widely expressed in adult tissues and in fetal liver and brain, with highest levels in prostate and lowest in skeletal muscle.1 Publication

Gene expression databases

BgeeiO60826.
CleanExiHS_CCDC22.
GenevestigatoriO60826.

Organism-specific databases

HPAiHPA000888.

Interactioni

Subunit structurei

Interacts with CPNE1 and CPNE4.By similarity

Protein-protein interaction databases

BioGridi118780. 21 interactions.
IntActiO60826. 1 interaction.
STRINGi9606.ENSP00000365401.

Structurei

3D structure databases

ProteinModelPortaliO60826.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili447 – 53589Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the CCDC22 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG253647.
GeneTreeiENSGT00390000003809.
HOGENOMiHOG000039965.
HOVERGENiHBG053063.
InParanoidiO60826.
OMAiECRQSEL.
OrthoDBiEOG7QNVKR.
PhylomeDBiO60826.
TreeFamiTF325575.

Family and domain databases

InterProiIPR008530. DUF812.
[Graphical view]
PANTHERiPTHR15668. PTHR15668. 1 hit.
PfamiPF05667. DUF812. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O60826-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MEEADRILIH SLRQAGTAVP PDVQTLRAFT TELVVEAVVR CLRVINPAVG
60 70 80 90 100
SGLSPLLPLA MSARFRLAMS LAQACMDLGY PLELGYQNFL YPSEPDLRDL
110 120 130 140 150
LLFLAERLPT DASEDADQPA GDSAILLRAI GSQIRDQLAL PWVPPHLRTP
160 170 180 190 200
KLQHLQGSAL QKPFHASRLV VPELSSRGEP REFQASPLLL PVPTQVPQPV
210 220 230 240 250
GRVASLLEHH ALQLCQQTGR DRPGDEDWVH RTSRLPPQED TRAQRQRLQK
260 270 280 290 300
QLTEHLRQSW GLLGAPIQAR DLGELLQAWG AGAKTGAPKG SRFTHSEKFT
310 320 330 340 350
FHLEPQAQAT QVSDVPATSR RPEQVTWAAQ EQELESLREQ LEGVNRSIEE
360 370 380 390 400
VEADMKTLGV SFVQAESECR HSKLSTAERE QALRLKSRAV ELLPDGTANL
410 420 430 440 450
AKLQLVVENS AQRVIHLAGQ WEKHRVPLLA EYRHLRKLQD CRELESSRRL
460 470 480 490 500
AEIQELHQSV RAAAEEARRK EEVYKQLMSE LETLPRDVSR LAYTQRILEI
510 520 530 540 550
VGNIRKQKEE ITKILSDTKE LQKEINSLSG KLDRTFAVTD ELVFKDAKKD
560 570 580 590 600
DAVRKAYKYL AALHENCSQL IQTIEDTGTI MREVRDLEEQ IETELGKKTL
610 620
SNLEKIREDY RALRQENAGL LGRVREA
Length:627
Mass (Da):70,756
Last modified:August 1, 1998 - v1
Checksum:iC3704BBCD9EA0386
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti412 – 4121Q → R in BAF84665. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171T → A Found in a family affected by mental retardation; may affect splicing and/or have a negative impact on transcription efficiency. 1 Publication
VAR_065912

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ005890 mRNA. Translation: CAA06747.1.
AK291976 mRNA. Translation: BAF84665.1.
BC000972 mRNA. Translation: AAH00972.1.
BC011675 mRNA. Translation: AAH11675.1.
CCDSiCCDS14322.1.
RefSeqiNP_054727.1. NM_014008.4.
UniGeneiHs.26333.

Genome annotation databases

EnsembliENST00000376227; ENSP00000365401; ENSG00000101997.
GeneIDi28952.
KEGGihsa:28952.
UCSCiuc004dnd.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ005890 mRNA. Translation: CAA06747.1 .
AK291976 mRNA. Translation: BAF84665.1 .
BC000972 mRNA. Translation: AAH00972.1 .
BC011675 mRNA. Translation: AAH11675.1 .
CCDSi CCDS14322.1.
RefSeqi NP_054727.1. NM_014008.4.
UniGenei Hs.26333.

3D structure databases

ProteinModelPortali O60826.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 118780. 21 interactions.
IntActi O60826. 1 interaction.
STRINGi 9606.ENSP00000365401.

PTM databases

PhosphoSitei O60826.

Proteomic databases

MaxQBi O60826.
PaxDbi O60826.
PeptideAtlasi O60826.
PRIDEi O60826.

Protocols and materials databases

DNASUi 28952.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000376227 ; ENSP00000365401 ; ENSG00000101997 .
GeneIDi 28952.
KEGGi hsa:28952.
UCSCi uc004dnd.2. human.

Organism-specific databases

CTDi 28952.
GeneCardsi GC0XP049092.
HGNCi HGNC:28909. CCDC22.
HPAi HPA000888.
MIMi 300859. gene.
neXtProti NX_O60826.
PharmGKBi PA134947763.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG253647.
GeneTreei ENSGT00390000003809.
HOGENOMi HOG000039965.
HOVERGENi HBG053063.
InParanoidi O60826.
OMAi ECRQSEL.
OrthoDBi EOG7QNVKR.
PhylomeDBi O60826.
TreeFami TF325575.

Enzyme and pathway databases

SignaLinki O60826.

Miscellaneous databases

GenomeRNAii 28952.
NextBioi 51765.
PROi O60826.
SOURCEi Search...

Gene expression databases

Bgeei O60826.
CleanExi HS_CCDC22.
Genevestigatori O60826.

Family and domain databases

InterProi IPR008530. DUF812.
[Graphical view ]
PANTHERi PTHR15668. PTHR15668. 1 hit.
Pfami PF05667. DUF812. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-410, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Platelet.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: VARIANT ALA-17, POSSIBLE INVOLVEMENT IN X-LINKED SYNDROMIC MENTAL RETARDATION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiCCD22_HUMAN
AccessioniPrimary (citable) accession number: O60826
Secondary accession number(s): A8K7G1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: August 1, 1998
Last modified: October 29, 2014
This is version 104 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3