MDFIC
entrez
29969
canonical
uniprot
Q9P1T7
canonical
ensembl
ENSG00000135272
resolver
ensp
ENSP00000377126
resolver
genesymbol
MDFIC
resolver
hgnc
HGNC:28870
resolver
uniprot
Q9P1T6
resolver
uniprot_entry
MDFIC_HUMAN
resolver
uniprot_sec
Q9P1T6
resolver
amino_acid_sequence
MSGAGEALAPGPVGPQRVAEAGGGQLGSTAQGKCDKDNTEKDITQATNSHFTHGEMQDQSIWGNPSDGELIRTQPQRLPQLQTSAQVPSGEEIGKIKNGHTGLSNGNGIHHGAKHGSADNRKLSAPVSQKMHRKIQSSLSVNSDISKKSKVNAVFSQKTGSSPEDCCVHCILACLFCEFLTLCNIVLGQASCGICTSEACCCCCGDEMGDDCNCPCDMDCGIMDACCESSDCLEICMECCGICFPS
uniprot
proteins
disease_involvement
DISEASE: Lymphatic malformation 12 (LMPHM12) [MIM:620014]: A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM12 is an autosomal recessive, severe form often resulting in fetal or perinatal demise. It is characterized by dysfunction of core collecting lymphatic vessels, including the thoracic duct and cisterna chyli, non-immune hydrops fetalis, chylothorax, pleural effusions, and chylous ascites. {ECO:0000269|PubMed:35235341}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required to control the activity of various transcription factors through their sequestration in the cytoplasm. Retains nuclear Zic proteins ZIC1, ZIC2 and ZIC3 in the cytoplasm and inhibits their transcriptional activation (By similarity). Modulates the expression from cellular promoters. Binds to the axin complex, resulting in an increase in the level of free beta-catenin (PubMed:12192039). Affects axin regulation of the WNT and JNK signaling pathways (PubMed:12192039). Involved in the development of lymphatic vessel valves (By similarity). Required to promote lymphatic endothelial cell migration, in a process that involves down-regulation of integrin beta 1 activation and control of cell adhesion to the extracellular matrix (PubMed:35235341). Regulates the activity of mechanosensitive Piezo channel (PubMed:37590348). {ECO:0000250|UniProtKB:Q8BX65, ECO:0000269|PubMed:12192039, ECO:0000269|PubMed:35235341, ECO:0000269|PubMed:37590348}.; FUNCTION: (Microbial infection) Modulates the expression from viral promoters. Down-regulates Tat-dependent transcription of the human immunodeficiency virus type 1 (HIV-1) LTR by interacting with HIV-1 Tat and Rev and impairing their nuclear import, probably by rendering the NLS domains inaccessible to importin-beta (PubMed:12944466, PubMed:16260749, Ref.6). Also stimulates activation of human T-cell leukemia virus type I (HTLV-I) LTR (PubMed:10671520). {ECO:0000269|PubMed:10671520, ECO:0000269|PubMed:12944466, ECO:0000269|PubMed:16260749, ECO:0000269|Ref.6}.
uniprot
proteins
mass_dalton
25788
uniprot
proteins
post_translational_modification
PTM: Palmitoylated. {ECO:0000269|PubMed:37590348}.
uniprot
proteins
protein_family
MDFI family
uniprot
proteins
pubmed
10671520
uniprot
proteins
pubmed
11139147
uniprot
proteins
pubmed
12192039
uniprot
proteins
pubmed
12944466
uniprot
proteins
pubmed
16260749
uniprot
proteins
pubmed
17289077
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
35235341
uniprot
proteins
pubmed
37590348
uniprot
proteins
sequence_length
246
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Nucleus, nucleolus. Note=Also shows a granular distribution in the cytoplasm.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:10671520, ECO:0000269|PubMed:11139147, ECO:0000269|PubMed:12944466, ECO:0000269|PubMed:16260749, ECO:0000269|PubMed:35235341}. Secreted {ECO:0000250|UniProtKB:Q8BX65}.
uniprot
proteins