Human Gene POMK (ENST00000331373.10) from GENCODE V44
  Description: Homo sapiens protein O-mannose kinase (POMK), transcript variant 1, mRNA. (from RefSeq NM_032237)
RefSeq Summary (NM_032237): This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013].
Gencode Transcript: ENST00000331373.10
Gencode Gene: ENSG00000185900.11
Transcript (Including UTRs)
   Position: hg38 chr8:43,093,515-43,123,434 Size: 29,920 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr8:43,103,549-43,122,877 Size: 19,329 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:43,093,515-43,123,434)mRNA (may differ from genome)Protein (350 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HPRDLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SG196_HUMAN
DESCRIPTION: RecName: Full=Protein kinase-like protein SgK196; AltName: Full=Sugen kinase 196;
SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential).
DOMAIN: The protein kinase domain is predicted to be catalytically inactive.
SIMILARITY: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily.
SIMILARITY: Contains 1 protein kinase domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: POMK
Diseases sorted by gene-association score: muscular dystrophy-dystroglycanopathy , type c, 12* (1400), muscular dystrophy-dystroglycanopathy , type a, 12* (1200), congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 12* (500), congenital muscular dystrophy with cerebellar involvement* (202), walker-warburg syndrome* (122), congenital hydrocephalus (7), cobblestone lissencephaly (6), muscle eye brain disease (5), muscular dystrophy (5)
* = Manually curated disease association

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.25 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 30.61 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -89.20258-0.346 Picture PostScript Text
3' UTR -178.50557-0.320 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR001245 - Ser-Thr/Tyr_kinase_cat_dom

Pfam Domains:
PF07714 - Protein tyrosine kinase

ModBase Predicted Comparative 3D Structure on Q9H5K3
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0016773 phosphotransferase activity, alcohol group as acceptor
GO:0019200 carbohydrate kinase activity

Biological Process:
GO:0001764 neuron migration
GO:0006468 protein phosphorylation
GO:0006493 protein O-linked glycosylation
GO:0007420 brain development
GO:0007611 learning or memory
GO:0016310 phosphorylation
GO:0019233 sensory perception of pain
GO:0046835 carbohydrate phosphorylation
GO:0050905 neuromuscular process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK027009 - Homo sapiens cDNA: FLJ23356 fis, clone HEP14919.
BC101548 - Homo sapiens protein kinase-like protein SgK196, mRNA (cDNA clone MGC:126597 IMAGE:8069054), complete cds.
BC113703 - Homo sapiens protein kinase-like protein SgK196, mRNA (cDNA clone MGC:142263 IMAGE:8322755), complete cds.
AB529002 - Synthetic construct DNA, clone: pF1KE0945, Homo sapiens SGK196 gene for protein kinase-like protein SgK196, without stop codon, in Flexi system.
HQ258198 - Synthetic construct Homo sapiens clone IMAGE:100072507 protein kinase-like protein SgK196 (SGK196) gene, encodes complete protein.
KJ894948 - Synthetic construct Homo sapiens clone ccsbBroadEn_04342 SGK196 gene, encodes complete protein.
JD036634 - Sequence 17658 from Patent EP1572962.
JD519843 - Sequence 500867 from Patent EP1572962.
DQ572314 - Homo sapiens piRNA piR-40426, complete sequence.
JD486342 - Sequence 467366 from Patent EP1572962.
JD400738 - Sequence 381762 from Patent EP1572962.
JD205274 - Sequence 186298 from Patent EP1572962.
JD065826 - Sequence 46850 from Patent EP1572962.
JD313838 - Sequence 294862 from Patent EP1572962.
JD566768 - Sequence 547792 from Patent EP1572962.
JD531607 - Sequence 512631 from Patent EP1572962.
JD531608 - Sequence 512632 from Patent EP1572962.
JD528188 - Sequence 509212 from Patent EP1572962.
JD541233 - Sequence 522257 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7979 - protein O-mannosylation III (mammals, core M3)

Reactome (by CSHL, EBI, and GO)

Protein Q9H5K3 (Reactome details) participates in the following event(s):

R-HSA-8931653 POMK 6-phosphorylates Mannose in GalNAc-GlcNAc-Man-DAG1
R-HSA-5173105 O-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000331373.1, ENST00000331373.2, ENST00000331373.3, ENST00000331373.4, ENST00000331373.5, ENST00000331373.6, ENST00000331373.7, ENST00000331373.8, ENST00000331373.9, NM_032237, Q9H5K3, SG196_HUMAN, SGK196, uc003xpw.1, uc003xpw.2, uc003xpw.3, uc003xpw.4, uc003xpw.5
UCSC ID: ENST00000331373.10
RefSeq Accession: NM_032237
Protein: Q9H5K3 (aka SG196_HUMAN)
CCDS: CCDS6141.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.