Q15049

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession MLC1_HUMAN; Q15049;
Entrez ID 23209
GenBank Protein ID NM_015166.3; NM_139202.2; XM_017028671.1;
GenBank Nucleotide ID NP_055981.1; NP_631941.1; XP_016884160.1;
Protein Name Membrane protein MLC1
Gene Name MLC1; KIAA0027; WKL1
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionRegulates the response of astrocytes to hypo-osmosis by promoting calcium influx.
Sequence
(Fasta)
MTQEPFREEL AYDRMPTLER GRQDPASYAP DAKPSDLQLS KRLPPCFSHK TWVFSVLMGS 60
CLLVTSGFSL YLGNVFPAEM DYLRCAAGSC IPSAIVSFTV SRRNANVIPN FQILFVSTFA 120
VTTTCLIWFG CKLVLNPSAI NINFNLILLL LLELLMAATV IIAARSSEED CKKKKGSMSD 180
SANILDEVPF PARVLKSYSV VEVIAGISAV LGGIIALNVD DSVSGPHLSV TFFWILVACF 240
PSAIASHVAA ECPSKCLVEV LIAISSLTSP LLFTASGYLS FSIMRIVEMF KDYPPAIKPS 300
YDVLLLLLLL VLLLQAGLNT GTAIQCVRFK VSARLQGASW DTQNGPQERL AGEVARSPLK 360
EFDKEKAWRA VVVQMAQ 378

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1PhosphorylationBreast cancer/tumor/carcinomaMDA-MB-231 cell lineP23185572
[Reference]: Stimulation of cortical myosin phosphorylation by p114RhoGEF drives cell migration and tumor cell invasion

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 4)
MESH:D003528 ; Carcinoma, Adenoid Cystic
MESH:D006529 ; Hepatomegaly
MESH:C536141 ; Megalencephalic leukoencephalopathy with subcortical cysts
MESH:D012468 ; Salivary Gland Neoplasms
DisGeNet (Curated)
(count: 24)
(view all)
C0005586; Bipolar Disorder
C0007758; Cerebellar Ataxia
C0010606; Adenoid Cystic Carcinoma
C0014544; Epilepsy
C0026106; Mild Mental Retardation
C0026838; Muscle Spasticity
HGMD
(count: 68)
(view all)
CD012017; Megalencephalic leukoencephalopathy; Small deletions
CD035668; Megalencephalic leukoencephalopathy; Small deletions
CD061441; Megalencephalic leukoencephalopathy; Small deletions
CD061442; Megalencephalic leukoencephalopathy; Small deletions
CD061443; Megalencephalic leukoencephalopathy; Small deletions
CD035669; Megalencephalic leukoencephalopathy; Small deletions

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 6)
17        LAYDRMPTLERGRQD     dbPAF
177       DCKKKKGSMSDSANI     dbPAF
197       FPARVLKSYSVVEVI     dbPAF
28        GRQDPASYAPDAKPS     dbPAF
357       LAGEVARSPLKEFDK     dbPAF
65        MGSCLLVTSGFSLYL     dbPAF
Ubiquitination
(count: 1)
360       EVARSPLKEFDKEKA     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource