U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    CDC42BPA CDC42 binding protein kinase alpha [ Homo sapiens (human) ]

    Gene ID: 8476, updated on 28-Oct-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    CDC42BPAprovided by HGNC
    Official Full Name
    CDC42 binding protein kinase alphaprovided by HGNC
    Primary source
    HGNC:HGNC:1737
    See related
    Ensembl:ENSG00000143776 MIM:603412; AllianceGenome:HGNC:1737
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRCK; MRCKA; PK428; MRCKalpha
    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 contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2018]
    Expression
    Ubiquitous expression in testis (RPKM 11.8), kidney (RPKM 9.4) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See CDC42BPA in Genome Data Viewer
    Location:
    1q42.13
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (226989858..227318492, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (226178223..226506850, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (227177559..227506193, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985354 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:227126665-227127356 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227138969-227139468 Neighboring gene MPRA-validated peak738 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227161529-227162142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227166346-227167094 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:227172247-227172425 Neighboring gene coenzyme Q8A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2676 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:227180293-227181492 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:227182370-227182516 Neighboring gene NANOG hESC enhancer GRCh37_chr1:227259898-227260481 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:227309525-227309674 Neighboring gene MPRA-validated peak741 silencer Neighboring gene cathepsin B pseudogene Neighboring gene phosphatidylinositol 4-kinase type 2 beta pseudogene Neighboring gene UBA5 pseudogene 1 Neighboring gene uncharacterized LOC124904531 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:227543671-227544356 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:227544357-227545040 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:227576538-227577298 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:227583939-227585138 Neighboring gene long intergenic non-protein coding RNA 1641 Neighboring gene nuclear casein kinase and cyclin dependent kinase substrate 1 pseudogene 1

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Evidence for a role of MRCK in mediating HeLa cell elongation induced by the C1 domain ligand HMI-1a3. Talman V, et al. Eur J Pharm Sci, 2014 May 13. PMID 24486483
    2. Tumor-associated macrophage-induced circMRCKα encodes a peptide to promote glycolysis and progression in hepatocellular carcinoma. Yu S, et al. Cancer Lett, 2024 Jun 1. PMID 38642609
    3. Functional proteomics interrogation of the kinome identifies MRCKA as a therapeutic target in high-grade serous ovarian carcinoma. Kurimchak AM, et al. Sci Signal, 2020 Feb 18. PMID 32071169, Free PMC Article
    4. Phosphorylation of ERM proteins at filopodia induced by Cdc42. Nakamura N, et al. Genes Cells, 2000 Jul. PMID 10947843
    5. Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart. Lam LT, et al. Hum Mol Genet, 2000 Sep 1. PMID 10958655

    See all (97) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Tumor-associated macrophage-induced circMRCKalpha encodes a peptide to promote glycolysis and progression in hepatocellular carcinoma.
      Title: Tumor-associated macrophage-induced circMRCKα encodes a peptide to promote glycolysis and progression in hepatocellular carcinoma.
    2. MRCK-Alpha and Its Effector Myosin II Regulatory Light Chain Bind ABCB4 and Regulate Its Membrane Expression.
      Title: MRCK-Alpha and Its Effector Myosin II Regulatory Light Chain Bind ABCB4 and Regulate Its Membrane Expression.
    3. Gene transfer of MRCKalpha rescues lipopolysaccharide-induced acute lung injury by restoring alveolar capillary barrier function.
      Title: Gene transfer of MRCKα rescues lipopolysaccharide-induced acute lung injury by restoring alveolar capillary barrier function.
    4. Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort.
      Title: Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort.
    5. Myotonic dystrophy kinase-related CDC42-binding kinase alpha, a new transferrin receptor type 2-binding partner, is a regulator of erythropoiesis.
      Title: Myotonic dystrophy kinase-related CDC42-binding kinase α, a new transferrin receptor type 2-binding partner, is a regulator of erythropoiesis.
    6. The Na+, K+-ATPase beta1 subunit regulates epithelial tight junctions via MRCKalpha.
      Title: The Na+, K+-ATPase β1 subunit regulates epithelial tight junctions via MRCKα.
    7. Functional proteomics interrogation of the kinome identifies MRCKA as a therapeutic target in high-grade serous ovarian carcinoma.
      Title: Functional proteomics interrogation of the kinome identifies MRCKA as a therapeutic target in high-grade serous ovarian carcinoma.
    8. The authors describe the discovery of MRCKalpha as a downstream effector of apoptosis and trigger of epithelial extrusion. By describing this novel role of MRCKalpha during apoptosis, the authors cast light on the complex actomyosin cytoskeleton dynamics in the process of epithelial cell extrusion and, likely, in the homeostatic maintenance of tissues in multicellular organisms.
      Title: MRCKα is activated by caspase cleavage to assemble an apical actin ring for epithelial cell extrusion.
    9. Cdc42BPA and Cdc42 signaling are important for colon cancer invasion, and Cdc42BPA has potential implications for colon cancer prognosis and treatment.
      Title: Comparative Proteomics Analysis Identifies Cdc42-Cdc42BPA Signaling as Prognostic Biomarker and Therapeutic Target for Colon Cancer Invasion.
    10. Silencing of CDC42BPA expression partially reduces miR29a3p inhibitor-induced migration and invasion of SW4807 cells
      Title: Inhibition of cell migration and invasion by miR‑29a‑3p in a colorectal cancer cell line through suppression of CDC42BPA mRNA expression.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Phenotypes

    Go to the top of the page Help

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ23347, KIAA0451, DKFZp686L1738, DKFZp686P1738

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in actomyosin structure organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in actomyosin structure organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in actomyosin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in actomyosin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell leading edge ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cell-cell junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    serine/threonine-protein kinase MRCK alpha
    Names
    CDC42 binding protein kinase alpha (DMPK-like)
    CDC42 binding protein kinase beta
    myotonic dystrophy kinase-related CDC42-binding protein kinase alpha
    myotonic dystrophy protein kinase-like alpha
    ser-thr protein kinase PK428
    ser-thr protein kinase related to the myotonic dystrophy protein kinase
    NP_001352939.1
    NP_001352940.1
    NP_001352948.1
    NP_001374479.1
    NP_001380943.1
    NP_003598.2
    NP_055641.3
    XP_005273374.1
    XP_005273375.1
    XP_005273377.1
    XP_005273378.1
    XP_006711897.1
    XP_006711898.1
    XP_011542609.1
    XP_011542610.1
    XP_011542611.1
    XP_016858067.1
    XP_016858069.1
    XP_016858071.1
    XP_047288302.1
    XP_047288313.1
    XP_047288320.1
    XP_047288321.1
    XP_047288323.1
    XP_047288334.1
    XP_054195215.1
    XP_054195216.1
    XP_054195217.1
    XP_054195218.1
    XP_054195219.1
    XP_054195220.1
    XP_054195221.1
    XP_054195222.1
    XP_054195223.1
    XP_054195224.1
    XP_054195225.1
    XP_054195226.1
    XP_054195227.1
    XP_054195228.1
    XP_054195229.1
    XP_054195230.1
    XP_054195231.1
    XP_054195232.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001366010.2 → NP_001352939.1  serine/threonine-protein kinase MRCK alpha isoform D

      Status: REVIEWED

      Source sequence(s)
      AB208968, AL353689, AL627308, BC136333
      UniProtKB/TrEMBL
      B9EGA7
      Conserved Domains (7) summary
      smart00285
      Location:1530 → 1564
      PBD; P21-Rho-binding domain
      COG0419
      Location:442 → 979
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd00029
      Location:972 → 1021
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:1031 → 1165
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05623
      Location:4 → 412
      STKc_MRCK_alpha; Catalytic domain of the Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) alpha
      pfam00780
      Location:1191 → 1455
      CNH; CNH domain
      pfam15796
      Location:530 → 608
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

    2. NM_001366011.1 → NP_001352940.1  serine/threonine-protein kinase MRCK alpha isoform E

      Status: REVIEWED

      Source sequence(s)
      AL353689, AL627308, BC136333
      Consensus CDS
      CCDS91168.1
      UniProtKB/TrEMBL
      A0A0A0MRJ0, B9EGA7
      Related
      ENSP00000355726.5, ENST00000366764.8
      Conserved Domains (7) summary
      smart00285
      Location:1538 → 1572
      PBD; P21-Rho-binding domain
      COG0419
      Location:442 → 944
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd00029
      Location:980 → 1029
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:1039 → 1173
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05623
      Location:4 → 412
      STKc_MRCK_alpha; Catalytic domain of the Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) alpha
      pfam00780
      Location:1199 → 1463
      CNH; CNH domain
      pfam15796
      Location:530 → 608
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

    3. NM_001366019.2 → NP_001352948.1  serine/threonine-protein kinase MRCK alpha isoform C

      Status: REVIEWED

      Source sequence(s)
      AL353689, AL451047, AL627308
      Consensus CDS
      CCDS91170.1
      UniProtKB/Swiss-Prot
      O75039, Q59GZ1, Q5H9N9, Q5T797, Q5VT25, Q5VT26, Q5VT27, Q86XX2, Q86XX3, Q99646
      UniProtKB/TrEMBL
      B9EGA7
      Related
      ENSP00000335341.6, ENST00000334218.9
      Conserved Domains (6) summary
      COG0419
      Location:432 → 941
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd00029
      Location:1013 → 1062
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:1072 → 1206
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05623
      Location:4 → 412
      STKc_MRCK_alpha; Catalytic domain of the Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) alpha
      pfam00780
      Location:1232 → 1496
      CNH; CNH domain
      pfam15796
      Location:530 → 608
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

    4. NM_001387550.1 → NP_001374479.1  serine/threonine-protein kinase MRCK alpha isoform F

      Status: REVIEWED

      Source sequence(s)
      AL353689, AL451047, AL627308
      UniProtKB/TrEMBL
      A0A0A0MRJ1, B9EGA7
      Conserved Domains (6) summary
      COG0419
      Location:432 → 941
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd01243
      Location:1123 → 1257
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05623
      Location:4 → 412
      STKc_MRCK_alpha; Catalytic domain of the Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) alpha
      pfam00780
      Location:1283 → 1547
      CNH; CNH domain
      pfam15796
      Location:530 → 608
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase
      cd20864
      Location:1062 → 1121
      C1_MRCKalpha; protein kinase C conserved region 1 (C1 domain) found in myotonic dystrophy kinase-related Cdc42-binding kinase alpha (MRCK alpha) and similar proteins

    5. NM_001394014.1 → NP_001380943.1  serine/threonine-protein kinase MRCK alpha isoform G

      Status: REVIEWED

      Source sequence(s)
      AL353689, AL451047, AL627308
      Consensus CDS
      CCDS91169.1
      UniProtKB/TrEMBL
      B9EGA7
      Related
      ENSP00000355728.5, ENST00000366766.8
      Conserved Domains (6) summary
      COG0419
      Location:432 → 941
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd01243
      Location:1094 → 1228
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05623
      Location:4 → 412
      STKc_MRCK_alpha; Catalytic domain of the Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) alpha
      pfam00780
      Location:1254 → 1518
      CNH; CNH domain
      pfam15796
      Location:530 → 608
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase
      cd20864
      Location:1033 → 1092
      C1_MRCKalpha; protein kinase C conserved region 1 (C1 domain) found in myotonic dystrophy kinase-related Cdc42-binding kinase alpha (MRCK alpha) and similar proteins

    6. NM_003607.4 → NP_003598.2  serine/threonine-protein kinase MRCK alpha isoform B

      See identical proteins and their annotated locations for NP_003598.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) encodes the longer isoform (B).
      Source sequence(s)
      AJ518975, AL353689, AL627308, BC050335, BF765241, BQ232716, BX648219
      Consensus CDS
      CCDS1558.1
      UniProtKB/TrEMBL
      B9EGA7
      Related
      ENSP00000355731.3, ENST00000366769.7
      Conserved Domains (8) summary
      pfam08826
      Location:881 → 941
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:77 → 343
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      COG1340
      Location:481 → 791
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00029
      Location:1000 → 1049
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:1059 → 1193
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05623
      Location:4 → 412
      STKc_MRCK_alpha; Catalytic domain of the Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) alpha
      pfam00780
      Location:1219 → 1483
      CNH; CNH domain
      pfam15796
      Location:530 → 608
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

    7. NM_014826.5 → NP_055641.3  serine/threonine-protein kinase MRCK alpha isoform A

      See identical proteins and their annotated locations for NP_055641.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) lacks a coding segment compared to variant B, resulting in an isoform (A) that lacks an internal region, as compared to isoform B.
      Source sequence(s)
      AJ518976, AL353689, AL627308, BC050335, BF765241, BQ232716, BX648219
      Consensus CDS
      CCDS1559.1
      UniProtKB/TrEMBL
      Q8IWQ7
      Related
      ENSP00000355729.3, ENST00000366767.7
      Conserved Domains (7) summary
      pfam08826
      Location:800 → 860
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:77 → 343
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd00029
      Location:919 → 968
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:978 → 1112
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05623
      Location:4 → 412
      STKc_MRCK_alpha; Catalytic domain of the Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) alpha
      pfam00780
      Location:1138 → 1402
      CNH; CNH domain
      pfam15619
      Location:447 → 614
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      226989858..227318492 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002580.3 → XP_016858069.1  serine/threonine-protein kinase MRCK alpha isoform X11

      UniProtKB/TrEMBL
      B9EGA7

    2. XM_047432364.1 → XP_047288320.1  serine/threonine-protein kinase MRCK alpha isoform X13

    3. XM_047432365.1 → XP_047288321.1  serine/threonine-protein kinase MRCK alpha isoform X14

    4. XM_011544309.4 → XP_011542611.1  serine/threonine-protein kinase MRCK alpha isoform X10

      UniProtKB/TrEMBL
      Q8IWQ7
      Conserved Domains (7) summary
      pfam08826
      Location:800 → 860
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:77 → 343
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd00029
      Location:983 → 1032
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:1042 → 1176
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05623
      Location:4 → 412
      STKc_MRCK_alpha; Catalytic domain of the Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) alpha
      pfam00780
      Location:1202 → 1466
      CNH; CNH domain
      pfam15619
      Location:447 → 614
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

    5. XM_005273321.5 → XP_005273378.1  serine/threonine-protein kinase MRCK alpha isoform X8

      UniProtKB/TrEMBL
      B9EGA7
      Conserved Domains (8) summary
      pfam08826
      Location:881 → 941
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:77 → 343
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      COG1340
      Location:481 → 791
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00029
      Location:1000 → 1049
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:1059 → 1193
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05623
      Location:4 → 412
      STKc_MRCK_alpha; Catalytic domain of the Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) alpha
      pfam00780
      Location:1219 → 1483
      CNH; CNH domain
      pfam15796
      Location:530 → 608
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

    6. XM_006711834.5 → XP_006711897.1  serine/threonine-protein kinase MRCK alpha isoform X3

      UniProtKB/TrEMBL
      B9EGA7
      Conserved Domains (8) summary
      pfam08826
      Location:881 → 941
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:77 → 343
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      COG1340
      Location:481 → 791
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00029
      Location:1035 → 1084
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:1094 → 1228
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05623
      Location:4 → 412
      STKc_MRCK_alpha; Catalytic domain of the Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) alpha
      pfam00780
      Location:1254 → 1518
      CNH; CNH domain
      pfam15796
      Location:530 → 608
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

    7. XM_005273320.5 → XP_005273377.1  serine/threonine-protein kinase MRCK alpha isoform X6

      UniProtKB/TrEMBL
      B9EGA7
      Conserved Domains (8) summary
      pfam08826
      Location:881 → 941
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:77 → 343
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      COG1340
      Location:481 → 791
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00029
      Location:1013 → 1062
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:1072 → 1206
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05623
      Location:4 → 412
      STKc_MRCK_alpha; Catalytic domain of the Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) alpha
      pfam00780
      Location:1232 → 1496
      CNH; CNH domain
      pfam15796
      Location:530 → 608
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

    8. XM_017002578.3 → XP_016858067.1  serine/threonine-protein kinase MRCK alpha isoform X9

      UniProtKB/TrEMBL
      B9EGA7

    9. XM_005273318.5 → XP_005273375.1  serine/threonine-protein kinase MRCK alpha isoform X2

      UniProtKB/TrEMBL
      B9EGA7
      Conserved Domains (8) summary
      pfam08826
      Location:881 → 941
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:77 → 343
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      COG1340
      Location:481 → 791
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00029
      Location:1048 → 1097
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:1107 → 1241
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05623
      Location:4 → 412
      STKc_MRCK_alpha; Catalytic domain of the Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) alpha
      pfam00780
      Location:1267 → 1531
      CNH; CNH domain
      pfam15796
      Location:530 → 608
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

    10. XM_047432357.1 → XP_047288313.1  serine/threonine-protein kinase MRCK alpha isoform X12

    11. XM_006711835.5 → XP_006711898.1  serine/threonine-protein kinase MRCK alpha isoform X5

      UniProtKB/TrEMBL
      B9EGA7
      Conserved Domains (8) summary
      pfam08826
      Location:881 → 941
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:77 → 343
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      COG1340
      Location:481 → 791
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00029
      Location:1016 → 1065
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:1075 → 1209
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05623
      Location:4 → 412
      STKc_MRCK_alpha; Catalytic domain of the Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) alpha
      pfam00780
      Location:1235 → 1499
      CNH; CNH domain
      pfam15796
      Location:530 → 608
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

    12. XM_005273317.5 → XP_005273374.1  serine/threonine-protein kinase MRCK alpha isoform X1

      UniProtKB/TrEMBL
      B9EGA7
      Conserved Domains (8) summary
      pfam08826
      Location:881 → 941
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:77 → 343
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      COG1340
      Location:481 → 791
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00029
      Location:1051 → 1100
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:1110 → 1244
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05623
      Location:4 → 412
      STKc_MRCK_alpha; Catalytic domain of the Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) alpha
      pfam00780
      Location:1270 → 1534
      CNH; CNH domain
      pfam15796
      Location:530 → 608
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

    13. XM_011544307.4 → XP_011542609.1  serine/threonine-protein kinase MRCK alpha isoform X4

      UniProtKB/TrEMBL
      B9EGA7
      Conserved Domains (8) summary
      pfam08826
      Location:881 → 941
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:77 → 343
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      COG1340
      Location:481 → 791
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd00029
      Location:1029 → 1078
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cd01243
      Location:1088 → 1222
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05623
      Location:4 → 412
      STKc_MRCK_alpha; Catalytic domain of the Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) alpha
      pfam00780
      Location:1248 → 1512
      CNH; CNH domain
      pfam15796
      Location:530 → 608
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

    14. XM_011544308.4 → XP_011542610.1  serine/threonine-protein kinase MRCK alpha isoform X7

      UniProtKB/TrEMBL
      B9EGA7
      Conserved Domains (8) summary
      pfam08826
      Location:881 → 941
      DMPK_coil; DMPK coiled coil domain like
      smart00220
      Location:77 → 343
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      COG1340
      Location:481 → 791
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      cd01243
      Location:1123 → 1257
      PH_MRCK; MRCK (myotonic dystrophy-related Cdc42-binding kinase) pleckstrin homology (PH) domain
      cd05623
      Location:4 → 412
      STKc_MRCK_alpha; Catalytic domain of the Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase (MRCK) alpha
      pfam00130
      Location:1064 → 1114
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      pfam00780
      Location:1283 → 1547
      CNH; CNH domain
      pfam15796
      Location:530 → 608
      KELK; KELK-motif containing domain of MRCK Ser/Thr protein kinase

    15. XM_047432346.1 → XP_047288302.1  serine/threonine-protein kinase MRCK alpha isoform X11

    16. XM_047432378.1 → XP_047288334.1  serine/threonine-protein kinase MRCK alpha isoform X17

    17. XM_017002582.3 → XP_016858071.1  serine/threonine-protein kinase MRCK alpha isoform X16

      UniProtKB/TrEMBL
      B9EGA7

    18. XM_047432367.1 → XP_047288323.1  serine/threonine-protein kinase MRCK alpha isoform X15

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      226178223..226506850 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339251.1 → XP_054195226.1  serine/threonine-protein kinase MRCK alpha isoform X11

    2. XM_054339253.1 → XP_054195228.1  serine/threonine-protein kinase MRCK alpha isoform X13

    3. XM_054339254.1 → XP_054195229.1  serine/threonine-protein kinase MRCK alpha isoform X14

    4. XM_054339249.1 → XP_054195224.1  serine/threonine-protein kinase MRCK alpha isoform X10

    5. XM_054339247.1 → XP_054195222.1  serine/threonine-protein kinase MRCK alpha isoform X8

    6. XM_054339242.1 → XP_054195217.1  serine/threonine-protein kinase MRCK alpha isoform X3

    7. XM_054339245.1 → XP_054195220.1  serine/threonine-protein kinase MRCK alpha isoform X6

    8. XM_054339248.1 → XP_054195223.1  serine/threonine-protein kinase MRCK alpha isoform X9

    9. XM_054339241.1 → XP_054195216.1  serine/threonine-protein kinase MRCK alpha isoform X2

    10. XM_054339252.1 → XP_054195227.1  serine/threonine-protein kinase MRCK alpha isoform X12

    11. XM_054339244.1 → XP_054195219.1  serine/threonine-protein kinase MRCK alpha isoform X5

    12. XM_054339240.1 → XP_054195215.1  serine/threonine-protein kinase MRCK alpha isoform X1

    13. XM_054339243.1 → XP_054195218.1  serine/threonine-protein kinase MRCK alpha isoform X4

    14. XM_054339246.1 → XP_054195221.1  serine/threonine-protein kinase MRCK alpha isoform X7

    15. XM_054339250.1 → XP_054195225.1  serine/threonine-protein kinase MRCK alpha isoform X11

    16. XM_054339257.1 → XP_054195232.1  serine/threonine-protein kinase MRCK alpha isoform X17

    17. XM_054339256.1 → XP_054195231.1  serine/threonine-protein kinase MRCK alpha isoform X16

    18. XM_054339255.1 → XP_054195230.1  serine/threonine-protein kinase MRCK alpha isoform X15

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VT25.1 GenPept UniProtKB/Swiss-Prot:Q5VT25

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous