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Protein

Coiled-coil domain-containing protein 22

Gene

CCDC22

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 assocation 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

  • cellular copper ion homeostasis Source: UniProtKB
  • cytoplasmic sequestering of NF-kappaB Source: UniProtKB
  • Golgi to plasma membrane transport Source: UniProtKB
  • negative regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
  • positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
  • positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process Source: UniProtKB
  • protein transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport, Ubl conjugation pathway

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 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:28909. CCDC22.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endosome

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.

Keywords - Diseasei

Mental retardation

Organism-specific databases

Orphaneti7. 3C syndrome.
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.
ExpressionAtlasiO60826. baseline and differential.
GenevestigatoriO60826.

Organism-specific databases

HPAiHPA000888.

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

WithEntry#Exp.IntActNotes
ACTG1P632613EBI-3943153,EBI-351292
COMMD1Q8N66812EBI-3943153,EBI-1550112
COMMD10Q9Y6G56EBI-3943153,EBI-1550310
COMMD2Q86X833EBI-3943153,EBI-1550220
COMMD3Q9UBI13EBI-3943153,EBI-714979
COMMD4Q9H0A83EBI-3943153,EBI-1550064
COMMD5Q9GZQ33EBI-3943153,EBI-1550256
COMMD6Q7Z4G15EBI-3943153,EBI-1550081
COMMD7Q86VX23EBI-3943153,EBI-1550280
COMMD8Q9NX083EBI-3943153,EBI-725694
COMMD9Q9P0005EBI-3943153,EBI-1550510
CUL1Q136163EBI-3943153,EBI-359390
CUL3Q136182EBI-3943153,EBI-456129
USHBP1Q8N6Y03EBI-3943153,EBI-739895

Protein-protein interaction databases

BioGridi118780. 42 interactions.
IntActiO60826. 18 interactions.
STRINGi9606.ENSP00000365401.

Structurei

3D structure databases

ProteinModelPortaliO60826.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 447447Sufficicient and required for interaction with CCDC931 PublicationAdd
BLAST
Regioni1 – 321321Sufficient for interaction with COMMD11 PublicationAdd
BLAST

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. 2 Publications
VAR_065912

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

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118780. 42 interactions.
IntActiO60826. 18 interactions.
STRINGi9606.ENSP00000365401.

PTM databases

PhosphoSiteiO60826.

Proteomic databases

MaxQBiO60826.
PaxDbiO60826.
PeptideAtlasiO60826.
PRIDEiO60826.

Protocols and materials databases

DNASUi28952.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi28952.
GeneCardsiGC0XP049092.
HGNCiHGNC:28909. CCDC22.
HPAiHPA000888.
MIMi300859. gene.
neXtProtiNX_O60826.
Orphaneti7. 3C syndrome.
PharmGKBiPA134947763.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

SignaLinkiO60826.

Miscellaneous databases

ChiTaRSiCCDC22. human.
GenomeRNAii28952.
NextBioi51765.
PROiO60826.
SOURCEiSearch...

Gene expression databases

BgeeiO60826.
CleanExiHS_CCDC22.
ExpressionAtlasiO60826. baseline and differential.
GenevestigatoriO60826.

Family and domain databases

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

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. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  7. Cited for: VARIANT ALA-17, POSSIBLE INVOLVEMENT IN X-LINKED SYNDROMIC MENTAL RETARDATION, TISSUE SPECIFICITY.
  8. Cited for: FUNCTION, SUBUNIT, CHARACTERIZATION OF VARIANT ALA-17.
  9. Cited for: FUNCTION, IDENTIFICATION IN THE CCC COMPLEX, SUBCELLULAR LOCATION, SUBUNIT.

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: May 27, 2015
This is version 111 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.