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Protein

Coiled-coil domain-containing protein 22

Gene

CCDC22

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

Functioni

Involved in regulation of NF-kappa-B signaling. Promotes ubiquitination of I-kappa-B-kinase subunit IKBKB and its subsequent proteasomal degradation leading to NF-kappa-B activation; the function may involve association with COMMD8 and a CUL1-dependent E3 ubiquitin ligase complex. May down-regulate NF-kappa-B activity via association with COMMD1 and involving a CUL2-dependent E3 ubiquitin ligase complex. Regulates the cellular localization of COMM domain-containing proteins, such as COMMD1 and COMMD10 (PubMed:23563313). Plays a role in copper ion homeostasis. Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes (PubMed:25355947).2 Publications

GO - Molecular functioni

  • cullin family protein binding Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processProtein transport, Transport, Ubl conjugation pathway

Enzyme and pathway databases

ReactomeiR-HSA-8951664 Neddylation
SignaLinkiO60826

Protein family/group databases

TCDBi9.A.3.1.2 the sorting nexin27 (snx27)-retromer assembly apparatus for recycling integral membrane proteins (snx27-retromeraa) family

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
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000101997.12
HGNCiHGNC:28909 CCDC22
MIMi300859 gene
neXtProtiNX_O60826

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endosome

Pathology & Biotechi

Involvement in diseasei

Ritscher-Schinzel syndrome 2 (RTSC2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Ritscher-Schinzel syndrome, a developmental malformation syndrome characterized by intellectual disability, cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities.
See also OMIM:300963
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06591217T → A in RTSC2; may affect splicing and/or have a negative impact on transcription efficiency; results in decreased interaction with COMMD1. 2 PublicationsCorresponds to variant dbSNP:rs863225428EnsemblClinVar.1
Natural variantiVAR_075063557Y → C in RTSC2. 1 PublicationCorresponds to variant dbSNP:rs863225429EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi28952
MalaCardsiCCDC22
MIMi300963 phenotype
OpenTargetsiENSG00000101997
Orphaneti7 3C syndrome
PharmGKBiPA134947763

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000761991 – 627Coiled-coil domain-containing protein 22Add BLAST627

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei410PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO60826
MaxQBiO60826
PaxDbiO60826
PeptideAtlasiO60826
PRIDEiO60826
ProteomicsDBi49610

PTM databases

iPTMnetiO60826
PhosphoSitePlusiO60826

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

BgeeiENSG00000101997 Expressed in 206 organ(s), highest expression level in blood
CleanExiHS_CCDC22
ExpressionAtlasiO60826 baseline and differential
GenevisibleiO60826 HS

Organism-specific databases

HPAiHPA000229
HPA000888

Interactioni

Subunit structurei

Interacts with CPNE1 and CPNE4 (By similarity). Interacts with COMMD1, COMMD2 COMMD3, COMMD4, COMMD5, COMMD6, COMMD7, COMMD8, COMMD9, COMMD10. Interacts with CUL1, CUL2, CUL3, SKP1, BTRC (PubMed:23563313). Interacts with CCDC93 and C16orf62; proposed to be a component of the CCC (COMMD/CCDC22/CCDC93) complex which contains at least COMMD1 (and possibly other COMM domain-containing proteins), CCDC22, CCDC93 and C16orf62; in the complex interacts directly with CCDC93 (PubMed:25355947).By similarity1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi118780, 96 interactors
CORUMiO60826
IntActiO60826, 51 interactors
STRINGi9606.ENSP00000365401

Structurei

3D structure databases

ProteinModelPortaliO60826
SMRiO60826
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 447Sufficicient and required for interaction with CCDC931 PublicationAdd BLAST447
Regioni1 – 321Sufficient for interaction with COMMD11 PublicationAdd BLAST321

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili447 – 535Sequence analysisAdd BLAST89

Sequence similaritiesi

Belongs to the CCDC22 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG1937 Eukaryota
ENOG410XR67 LUCA
GeneTreeiENSGT00390000003809
HOGENOMiHOG000039965
HOVERGENiHBG053063
InParanoidiO60826
OMAiKFEQHIQ
OrthoDBiEOG091G0F93
PhylomeDBiO60826
TreeFamiTF325575

Family and domain databases

InterProiView protein in InterPro
IPR008530 CCDC22
PANTHERiPTHR15668 PTHR15668, 1 hit
PfamiView protein in Pfam
PF05667 DUF812, 1 hit

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)DescriptionActionsGraphical viewLength
Sequence conflicti412Q → R in BAF84665 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06591217T → A in RTSC2; may affect splicing and/or have a negative impact on transcription efficiency; results in decreased interaction with COMMD1. 2 PublicationsCorresponds to variant dbSNP:rs863225428EnsemblClinVar.1
Natural variantiVAR_076265546D → N1 PublicationCorresponds to variant dbSNP:rs147222955EnsemblClinVar.1
Natural variantiVAR_075063557Y → C in RTSC2. 1 PublicationCorresponds to variant dbSNP:rs863225429EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliO60826
SMRiO60826
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118780, 96 interactors
CORUMiO60826
IntActiO60826, 51 interactors
STRINGi9606.ENSP00000365401

Protein family/group databases

TCDBi9.A.3.1.2 the sorting nexin27 (snx27)-retromer assembly apparatus for recycling integral membrane proteins (snx27-retromeraa) family

PTM databases

iPTMnetiO60826
PhosphoSitePlusiO60826

Proteomic databases

EPDiO60826
MaxQBiO60826
PaxDbiO60826
PeptideAtlasiO60826
PRIDEiO60826
ProteomicsDBi49610

Protocols and materials databases

DNASUi28952
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi28952
DisGeNETi28952
EuPathDBiHostDB:ENSG00000101997.12
GeneCardsiCCDC22
HGNCiHGNC:28909 CCDC22
HPAiHPA000229
HPA000888
MalaCardsiCCDC22
MIMi300859 gene
300963 phenotype
neXtProtiNX_O60826
OpenTargetsiENSG00000101997
Orphaneti7 3C syndrome
PharmGKBiPA134947763
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1937 Eukaryota
ENOG410XR67 LUCA
GeneTreeiENSGT00390000003809
HOGENOMiHOG000039965
HOVERGENiHBG053063
InParanoidiO60826
OMAiKFEQHIQ
OrthoDBiEOG091G0F93
PhylomeDBiO60826
TreeFamiTF325575

Enzyme and pathway databases

ReactomeiR-HSA-8951664 Neddylation
SignaLinkiO60826

Miscellaneous databases

ChiTaRSiCCDC22 human
GenomeRNAii28952
PROiPR:O60826
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101997 Expressed in 206 organ(s), highest expression level in blood
CleanExiHS_CCDC22
ExpressionAtlasiO60826 baseline and differential
GenevisibleiO60826 HS

Family and domain databases

InterProiView protein in InterPro
IPR008530 CCDC22
PANTHERiPTHR15668 PTHR15668, 1 hit
PfamiView protein in Pfam
PF05667 DUF812, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCCD22_HUMAN
AccessioniPrimary (citable) accession number: O60826
Secondary accession number(s): A8K7G1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: August 1, 1998
Last modified: November 7, 2018
This is version 140 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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