CIB1
entrez
10519
canonical
uniprot
Q99828
canonical
ensembl
ENSG00000185043
resolver
ensp
ENSP00000333873
resolver
ensp
ENSP00000479860
resolver
ensp
ENSP00000712895
resolver
genesymbol
CIB1
resolver
genesymbol_syn
CIB
resolver
genesymbol_syn
KIP
resolver
genesymbol_syn
PRKDCIP
resolver
hgnc
HGNC:16920
resolver
uniprot
A0A140VK09
resolver
uniprot
B5BU40
resolver
uniprot
H6WJF3
resolver
uniprot
O00693
resolver
uniprot
O00735
resolver
uniprot
Q6IB49
resolver
uniprot
Q96J54
resolver
uniprot
Q99971
resolver
uniprot_entry
A0A140VK09_HUMAN
resolver
uniprot_entry
CIB1_HUMAN
resolver
uniprot_sec
B5BU40
resolver
uniprot_sec
H6WJF3
resolver
uniprot_sec
O00693
resolver
uniprot_sec
O00735
resolver
uniprot_sec
Q6IB49
resolver
uniprot_sec
Q96J54
resolver
uniprot_sec
Q99971
resolver
amino_acid_sequence
MGGSGSRLSKELLAEYQDLTFLTKQEILLAHRRFCELLPQEQRSVESSLRAQVPFEQILSLPELKANPFKERICRVFSTSPAKDSLSFEDFLDLLSVFSDTATPDIKSHYAFRIFDFDDDGTLNREDLSRLVNCLTGEGEDTRLSASEMKQLIDNILEESDIDRDGTINLSEFQHVISRSPDFASSFKIVL
uniprot
proteins
disease_involvement
DISEASE: Epidermodysplasia verruciformis 3 (EV3) [MIM:618267]: A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV3 inheritance is autosomal recessive. {ECO:0000269|PubMed:30068544}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Calcium-binding protein that plays a role in the regulation of numerous cellular processes, such as cell differentiation, cell division, cell proliferation, cell migration, thrombosis, angiogenesis, cardiac hypertrophy and apoptosis. Involved in bone marrow megakaryocyte differentiation by negatively regulating thrombopoietin-mediated signaling pathway. Participates in the endomitotic cell cycle of megakaryocyte, a form of mitosis in which both karyokinesis and cytokinesis are interrupted. Plays a role in integrin signaling by negatively regulating alpha-IIb/beta3 activation in thrombin-stimulated megakaryocytes preventing platelet aggregation. Up-regulates PTK2/FAK1 activity, and is also needed for the recruitment of PTK2/FAK1 to focal adhesions; it thus appears to play an important role in focal adhesion formation. Positively regulates cell migration on fibronectin in a CDC42-dependent manner, the effect being negatively regulated by PAK1. Functions as a negative regulator of stress activated MAP kinase (MAPK) signaling pathways. Down-regulates inositol 1,4,5-trisphosphate receptor-dependent calcium signaling. Involved in sphingosine kinase SPHK1 translocation to the plasma membrane in a N-myristoylation-dependent manner preventing TNF-induced apoptosis. Regulates serine/threonine-protein kinase PLK3 activity for proper completion of cell division progression. Plays a role in microtubule (MT) dynamics during neuronal development; disrupts the MT depolymerization activity of STMN2 attenuating NGF-induced neurite outgrowth and the MT reorganization at the edge of lamellipodia. Promotes cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway. Stimulates calcineurin PPP3R1 activity by mediating its anchoring to the sarcolemma. In ischemia-induced (pathological or adaptive) angiogenesis, stimulates endothelial cell proliferation, migration and microvessel formation by activating the PAK1 and ERK1/ERK2 signaling pathway. Also promotes cancer cell survival and proliferation. May regulate cell cycle and differentiation of spermatogenic germ cells, and/or differentiation of supporting Sertoli cells. Forms a complex with TMC6/EVER1 and TMC8/EVER2 in lymphocytes and keratynocytes where CIB1 stabilizes TMC6 and TMC8 levels and reciprocally (PubMed:30068544, PubMed:32917726). {ECO:0000269|PubMed:30068544, ECO:0000269|PubMed:32917726}.; FUNCTION: Acts as a restriction factor that promotes keratinocyte-intrinsic immunity to human beta-papillomaviruses (HPVs). {ECO:0000269|PubMed:30068544}.; FUNCTION: [Isoform 2]: Plays a regulatory role in angiogenesis and tumor growth by mediating PKD/PRKD2-induced vascular endothelial growth factor A (VEGFA) secretion. {ECO:0000269|PubMed:23503467}.
uniprot
proteins
mass_dalton
21703
uniprot
proteins
mutagenesis
MUTAGEN 2; /note="G->A: Inhibits translocation to the plasma membrane. Increased apoptosis after TNF stimulation."; /evidence="ECO:0000269|PubMed:19854831"; MUTAGEN 78; /note="S->A: Loss of phosphorylation by PKD/PRKD2; in isoform 2."; /evidence="ECO:0000269|PubMed:23503467"; MUTAGEN 78; /note="S->E: Phosphomimetic; promotes tumor growth by an indirect mechanism; in isoform 2."; /evidence="ECO:0000269|PubMed:23503467"; MUTAGEN 114..117; /note="IFDF->AAAA: Loss of binding to ITGAV."; /evidence="ECO:0000269|PubMed:24011356"; MUTAGEN 115; /note="F->A: Loss of binding to ITGA2B."; /evidence="ECO:0000269|PubMed:12023286"; MUTAGEN 127; /note="D->N: Cytoplasmic localization."; /evidence="ECO:0000269|PubMed:15475008"; MUTAGEN 131; /note="L->A,T: Loss of binding to ITGA2B."; /evidence="ECO:0000269|PubMed:12023286"; MUTAGEN 152..153; /note="LI->AA: Loss of binding to ITGA2B."; /evidence="ECO:0000269|PubMed:24011356"; MUTAGEN 153; /note="I->A: Loss of binding to ITGA2B."; /evidence="ECO:0000269|PubMed:12023286"; MUTAGEN 167; /note="T->A: No effect on phosphorylation by PKD/PRKD2; in isoform 2."; /evidence="ECO:0000269|PubMed:23503467"; MUTAGEN 172; /note="E->Q: Cytoplasmic localization."; /evidence="ECO:0000269|PubMed:15475008"; MUTAGEN 173; /note="F->A: Loss of binding to ITGA2B."; /evidence="ECO:0000269|PubMed:12023286, ECO:0000269|PubMed:16418530, ECO:0000269|PubMed:24011356"; MUTAGEN 173; /note="F->A: Loss of binding to ITGA2B. Does not inhibit interaction with PAK1."; /evidence="ECO:0000269|PubMed:12023286, ECO:0000269|PubMed:16418530, ECO:0000269|PubMed:24011356
uniprot
proteins
post_translational_modification
PTM: Phosphorylation of isoform 2 at Ser-118 by PRKD2 increases its ability to stimulate tumor angiogenesis. {ECO:0000305|PubMed:23503467}.
uniprot
proteins
pubmed
10366599
uniprot
proteins
pubmed
10477286
uniprot
proteins
pubmed
10822252
uniprot
proteins
pubmed
10826701
uniprot
proteins
pubmed
11323029
uniprot
proteins
pubmed
11756406
uniprot
proteins
pubmed
11856312
uniprot
proteins
pubmed
12011095
uniprot
proteins
pubmed
12023286
uniprot
proteins
pubmed
12714504
uniprot
proteins
pubmed
12881299
uniprot
proteins
pubmed
14992593
uniprot
proteins
pubmed
15475008
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15574431
uniprot
proteins
pubmed
15685448
uniprot
proteins
pubmed
15840829
uniprot
proteins
pubmed
15883187
uniprot
proteins
pubmed
15933764
uniprot
proteins
pubmed
16061695
uniprot
proteins
pubmed
16418530
uniprot
proteins
pubmed
16723353
uniprot
proteins
pubmed
18627437
uniprot
proteins
pubmed
19054851
uniprot
proteins
pubmed
19388079
uniprot
proteins
pubmed
19805025
uniprot
proteins
pubmed
19854831
uniprot
proteins
pubmed
20473878
uniprot
proteins
pubmed
20639889
uniprot
proteins
pubmed
20951827
uniprot
proteins
pubmed
21215777
uniprot
proteins
pubmed
21264284
uniprot
proteins
pubmed
21388953
uniprot
proteins
pubmed
21748785
uniprot
proteins
pubmed
22283712
uniprot
proteins
pubmed
22779914
uniprot
proteins
pubmed
22964641
uniprot
proteins
pubmed
23503467
uniprot
proteins
pubmed
24011356
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30068544
uniprot
proteins
pubmed
32917726
uniprot
proteins
pubmed
9030514
uniprot
proteins
pubmed
9372844
uniprot
proteins
sequence_length
191
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane; Lipid-anchor. Cell membrane, sarcolemma. Cell membrane. Apical cell membrane. Cell projection, ruffle membrane. Cell projection, filopodium tip. Cell projection, growth cone {ECO:0000269|PubMed:21215777}. Cell projection, lamellipodium {ECO:0000269|PubMed:21215777}. Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, perinuclear region. Nucleus {ECO:0000269|PubMed:30068544}. Cell projection, neuron projection {ECO:0000269|PubMed:21215777}. Perikaryon {ECO:0000269|PubMed:21215777}. Note=Colocalized with PPP3R1 at the cell membrane of cardiomyocytes in the hypertrophic heart (By similarity). Colocalized with NBR1 to the perinuclear region. Colocalizes with TAS1R2 in apical regions of taste receptor cells. Colocalized with RAC3 in the perinuclear area and at the cell periphery. Colocalized with PAK1 within membrane ruffles during cell spreading upon readhesion to fibronectin. Redistributed to the cytoskeleton upon platelet aggregation. Translocates from the cytosol to the plasma membrane in a calcium-dependent manner. Colocalized with PLK3 at centrosomes in ductal breast carcinoma cells. {ECO:0000250}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm, perinuclear region {ECO:0000269|PubMed:23503467}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:23503467}.
uniprot
proteins