Family Search for PF05667 (DUF812)

PF05667.11 hits 3 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.

CCD22_MOUSE / Q9JIG7 Coiled-coil domain-containing protein 22 from Mus musculus (Mouse) (see paper)
NP_613069 coiled-coil domain-containing protein 22 from Mus musculus
Aligns to 1:597 / 627 (95.2%), covers 100.0% of PF05667, 713.7 bits

• function: 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. Component of the CCC complex, which is involved in the regulation of endosomal recycling of surface proteins, including integrins, signaling receptor and channels. The CCC complex associates with SNX17, retriever and WASH complexes to prevent lysosomal degradation and promote cell surface recycling of numerous cargos such as integrins ITGA5:ITGB1. 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.
  subunit: Interacts with CPNE1 and CPNE4 (PubMed:12522145). Interacts with COMMD1, COMMD2 COMMD3, COMMD4, COMMD5, COMMD6, COMMD7, COMMD8, COMMD9, COMMD10. Interacts with CUL1, CUL2, CUL3, SKP1, BTRC. Interacts with CCDC93; 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 and CCDC93; in the complex interacts directly with CCDC93. Interacts with VPS35L; associates with the retriever complex. Interacts with SNX17 and SNX31 (By similarity).
• Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif.
  Tomsig, The Journal of biological chemistry 2003 (PubMed)
  • GeneRIF: Identifies this protein as a copine-binding protein.

CCD22_HUMAN / O60826 Coiled-coil domain-containing protein 22 from Homo sapiens (Human) (see 5 papers)
NP_054727 coiled-coil domain-containing protein 22 from Homo sapiens
Aligns to 1:597 / 627 (95.2%), covers 100.0% of PF05667, 709.1 bits

• function: 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). Component of the CCC complex, which is involved in the regulation of endosomal recycling of surface proteins, including integrins, signaling receptor and channels. The CCC complex associates with SNX17, retriever and WASH complexes to prevent lysosomal degradation and promote cell surface recycling of numerous cargos such as integrins ITGA5:ITGB1 (PubMed:28892079, PubMed:25355947). 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).
  function: (Microbial infection) The CCC complex, in collaboration with the heterotrimeric retriever complex, mediates the exit of human papillomavirus to the cell surface.
  subunit: Interacts with CPNE1 and CPNE4 (By similarity). Interacts with COMMD1, COMMD2 COMMD3, COMMD4, COMMD5, COMMD6, COMMD7, COMMD8, COMMD9, COMMD10 (PubMed:25355947). Interacts with CUL1, CUL2, CUL3, SKP1, BTRC (PubMed:23563313). Interacts with CCDC93; 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 and CCDC93; in the complex interacts directly with CCDC93 (PubMed:25355947). Interacts with VPS35L; associates with the retriever complex (PubMed:25355947, PubMed:28892079). Interacts with SNX17 and SNX31 (PubMed:28892079).
• Association between rs2294020 in X-linked CCDC22 and susceptibility to autoimmune diseases with focus on systemic lupus erythematosus.
  D'Amico, Immunology letters 2017
  • GeneRIF: Our results suggest that rs2294020 is associated with the risk of several autoimmune diseases in European populations, specifically with diseases that present themselves, among else, in the skin.
• CCDC22 gene polymorphism is associated with advanced stages of endometriosis in a sample of Brazilian women.
  de, Journal of assisted reproduction and genetics 2017
  • GeneRIF: SNPs within the CCDC22 gene are associated with increased susceptibility to endometriosis in Brazilian women.
• CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.
  Bartuzi, Nature communications 2016
  • GeneRIF: CCDC22 mutation is associated with hypercholesterolemia.
• Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
  Kolanczyk, European journal of human genetics : EJHG 2015
  • GeneRIF: Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome
• CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.
  Starokadomskyy, The Journal of clinical investigation 2013
  • GeneRIF: CCDC22 participates in NF-kappaB activation and its deficiency leads to decreased IkappaB turnover
• CCDC22: a novel candidate gene for syndromic X-linked intellectual disability.
  Voineagu, Molecular psychiatry 2012
  • GeneRIF: This study demonistrated that CCDC22 is a novel candidate gene for syndromic X-linked intellectual disability.
• New genetic associations detected in a host response study to hepatitis B vaccine.
  Davila, Genes and immunity 2010 (PubMed)
  • GeneRIF: Observational study of gene-disease association. (HuGE Navigator)
• Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk.
  Suttner, The Journal of allergy and clinical immunology 2010 (PubMed)
  • GeneRIF: Observational study of gene-disease association. (HuGE Navigator)
• More
• Auramine O, an incense smoke ingredient, promotes lung cancer malignancy.
  Tung, Environmental toxicology 2017
  • “...kinase ARaf ARAF 1 4.1 67.93 3.78E03 O75787 Renin receptor ATP6AP2 5 19.7 39.01 1.93E12 O60826 Coiledcoil domaincontaining protein 22 CCDC22 4 10.4 70.76 6.81E56 Q9UFE4 Coiledcoil domaincontaining protein 39 CCDC39 2 2.7 109.90 9.11E04 Q8WVB6 Chromosome transmission fidelity protein 18 homolog CHTF18 3 3.6 129.40...”

P86182 Coiled-coil domain-containing protein 22 from Rattus norvegicus
Aligns to 1:597 / 627 (95.2%), covers 100.0% of PF05667, 708.4 bits

• Effects of an early experience of reward through maternal contact or its denial on laterality of protein expression in the developing rat hippocampus.
  Raftogianni, PloS one 2012
  • “...Levels in LH of the RER Q05175 BASP1_RAT Brain acid soluble protein 1 58 52 P86182 CCD22_RAT Coiled-coil domain-containing protein 22 61 8 P63039 CH60_RAT 60 kDa heat shock protein, mitochondrial 112 8 P08082 CLCB_RAT Clathrin light chain B 78 2 Q62950 DPYL1_RAT Dihydropyrimidinase-related protein 1...”

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