Gene Gene information from NCBI Gene database.
Entrez ID 8476
Gene name CDC42 binding protein kinase alpha
Gene symbol CDC42BPA
Synonyms (NCBI Gene)
MRCKMRCKAMRCKalphaPK428
Chromosome 1
Chromosome location 1q42.13
Summary The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also con
miRNA miRNA information provided by mirtarbase database.
301
miRTarBase ID miRNA Experiments Reference
MIRT017761 hsa-miR-335-5p Microarray 18185580
MIRT051756 hsa-let-7c-5p CLASH 23622248
MIRT048711 hsa-miR-98-5p CLASH 23622248
MIRT717678 hsa-miR-4311 HITS-CLIP 19536157
MIRT717677 hsa-miR-216b-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IDA 9092543
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
GO:0004674 Function Protein serine/threonine kinase activity IDA 9092543, 11340065, 11399775, 21457715
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603412 1737 ENSG00000143776
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VT25
Protein name Serine/threonine-protein kinase MRCK alpha (EC 2.7.11.1) (CDC42-binding protein kinase alpha) (DMPK-like alpha) (Myotonic dystrophy kinase-related CDC42-binding kinase alpha) (MRCK alpha) (Myotonic dystrophy protein kinase-like alpha)
Protein function Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration (PubMed:15723050, PubMed:9092543, PubMed:9418861). Regulates actin cytoskelet
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 77 343 Protein kinase domain Domain
PF00433 Pkinase_C 362 404 Protein kinase C terminal domain Family
PF15796 KELK 529 608 KELK-motif containing domain of MRCK Ser/Thr protein kinase Coiled-coil
PF08826 DMPK_coil 881 941 DMPK coiled coil domain like Coiled-coil
PF00130 C1_1 1013 1064 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00780 CNH 1232 1496 CNH domain Family
Tissue specificity TISSUE SPECIFICITY: Abundant in the heart, brain, skeletal muscle, kidney, and pancreas, with little or no expression in the lung and liver. {ECO:0000269|PubMed:9092543}.
Sequence
MSGEVRLRQLEQFILDGPAQTNGQCFSVETLLDILICLYDECNNSPLRREKNILEYLEWA
KPFTSKVKQMRLHREDFEILKVIGRGAFGEVAVVKLKNADKVFAMKILNKWEMLKRAETA
CFREERDVLVNGDNKWITTLHYAFQDDNNLYLVMDYYVGGDLLTLLSKFEDRLPEDMARF
YLAEMVIAIDSVHQLHYVHRDIKPDNILMDMNGHIRLADFGSCLKLMEDGTVQSSVAVGT
PDYISPEILQAMEDGKGRYGPECDWWSLGVCMYEMLYGETPFYAESLVETYGKIMNHKER
FQFPAQVTDVSENAKDLIRRLICSREHRLGQNGIEDFKKHPFF
SGIDWDNIRNCEAPYIP
EVSSPTDTSNFDVDDDCLKNSETMPPPTHTAFSGHHLPFVGFTYTSSCVLSDRSCLRVTA
GPTSLDLDVNVQRTLDNNLATEAYERRIKRLEQEKLELSRKLQESTQTVQALQYSTVDGP
LTASKDLEIKNLKEEIEKLRKQVTESSHLEQQLEEANAVRQELDDAFRQIKAYEKQIKTL
QQEREDLNKELVQASERLKNQSKELKDAHCQRKLAMQEFMEINERLTELHTQKQKLARHV
RDKEEEVD
LVMQKVESLRQELRRTERAKKELEVHTEALAAEASKDRKLREQSEHYSKQLE
NELEGLKQKQISYSPGVCSIEHQQEITKLKTDLEKKSIFYEEELSKREGIHANEIKNLKK
ELHDSEGQQLALNKEIMILKDKLEKTRRESQSEREEFESEFKQQYEREKVLLTEENKKLT
SELDKLTTLYENLSIHNQQLEEEVKDLADKKESVAHWEAQITEIIQWVSDEKDARGYLQA
LASKMTEELEALRNSSLGTRATDMPWKMRRFAKLDMSARLELQSALDAEIRAKQAIQEEL
NKVKASNIITECKLKDSEKKNLELLSEIEQLIKDTEELRSE
KGIEHQDSQHSFLAFLNTP
TDALDQFERSPSCTPASKGRRTVDSTPLSVHTPTLRKKGCPGSTGFPPKRKTHQFFVKSF
TTPTKCHQCTSLMVGLIRQGCSCEVCGFSCHITCVNKAPTTCPV
PPEQTKGPLGIDPQKG
IGTAYEGHVRIPKPAGVKKGWQRALAIVCDFKLFLYDIAEGKASQPSVVISQVIDMRDEE
FSVSSVLASDVIHASRKDIPCIFRVTASQLSASNNKCSILMLADTENEKNKWVGVLSELH
KILKKNKFRDRSVYVPKEAYDSTLPLIKTTQAAAIIDHERIALGNEEGLFVVHVTKDEII
RVGDNKKIHQIELIPNDQLVAVISGRNRHVRLFPMSALDGRETDFYKLSETKGCQTVTSG
KVRHGALTCLCVAMKRQVLCYELFQSKTRHRKFKEIQVPYNVQWMAIFSEQLCVGFQSGF
LRYPLNGEGNPYSMLHSNDHTLSFIAHQPMDAICAVEISSKEYLLCFNSIGIYTDCQGRR
SRQQELMWPANPSSCCYNAPYLSVYSENAVDIFDVNSMEWIQTLPLKKVRPLNNEG
SLNL
LGLETIRLIYFKNKMAEGDELVVPETSDNSRKQMVRNINNKRRYSFRVPEEERMQQRREM
LRDPEMRNKLISNPTNFNHIAHMGPGDGIQILKDLPMNPRPQESRTVFSGSVSIPSITKS
RPEPGRSMSASSGLSARSSAQNGSALKREFSGGSYSAKRQPMPSPSEGSLSSGGMDQGSD
APARDFDGEDSDSPRHSTASNSSNLSSPPSPASPRKTKSLSLESTDRGSWDP
Sequence length 1732
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 22464443
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 38164185 Associate
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 29072916
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease Pubtator 32472697 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 30279244
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 30279244
★☆☆☆☆
Found in Text Mining only
Heart Diseases Heart disease Pubtator 32037394 Associate
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 9092543
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 36194576 Associate
★☆☆☆☆
Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse Malignant lymphoma, lymphocytic, intermediate differentiation BEFREE 27025456
★☆☆☆☆
Found in Text Mining only