Human Gene RBM48 (ENST00000265732.10) from GENCODE V44
  Description: Homo sapiens RNA binding motif protein 48 (RBM48), transcript variant 1, mRNA. (from RefSeq NM_032120)
Gencode Transcript: ENST00000265732.10
Gencode Gene: ENSG00000127993.16
Transcript (Including UTRs)
   Position: hg38 chr7:92,528,795-92,540,481 Size: 11,687 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr7:92,528,814-92,536,937 Size: 8,124 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:92,528,795-92,540,481)mRNA (may differ from genome)Protein (367 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
PubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RBM48_HUMAN
DESCRIPTION: RecName: Full=RNA-binding protein 48;
SIMILARITY: Belongs to the RBM48 family.
SIMILARITY: Contains 1 RRM (RNA recognition motif) domain.
SEQUENCE CAUTION: Sequence=AAH33561.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB70806.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAB66554.1; Type=Frameshift; Positions=341; Sequence=CAI45942.1; Type=Erroneous translation; Note=The protein sequence does not correspond to the translation of the nucleic acid sequence; Sequence=EAL24148.1; Type=Erroneous gene model prediction;

-  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: RBM48
Diseases sorted by gene-association score: polycystic kidney disease 4, with or without hepatic disease (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.79 RPKM in Brain - Cerebellum
Total median expression: 193.84 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 0.00190.000 Picture PostScript Text
3' UTR -1195.303544-0.337 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
IPR012677 - Nucleotide-bd_a/b_plait

ModBase Predicted Comparative 3D Structure on Q5RL73
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding

Cellular Component:
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  BC104865 - Homo sapiens chromosome 7 open reading frame 64, mRNA (cDNA clone MGC:132525 IMAGE:8143868), complete cds.
BC104867 - Homo sapiens chromosome 7 open reading frame 64, mRNA (cDNA clone MGC:132527 IMAGE:8143870), complete cds.
BC143576 - Homo sapiens chromosome 7 open reading frame 64, mRNA (cDNA clone MGC:177104 IMAGE:9052087), complete cds.
LF383940 - JP 2014500723-A/191443: Polycomb-Associated Non-Coding RNAs.
MA619517 - JP 2018138019-A/191443: Polycomb-Associated Non-Coding RNAs.
CR933641 - Homo sapiens mRNA; cDNA DKFZp686D1651 (from clone DKFZp686D1651).
BC044570 - Homo sapiens chromosome 7 open reading frame 64, mRNA (cDNA clone MGC:57131 IMAGE:4793676), complete cds.
BC033561 - Homo sapiens chromosome 7 open reading frame 64, mRNA (cDNA clone IMAGE:4825968), partial cds.
AL136619 - Homo sapiens mRNA; cDNA DKFZp564O0523 (from clone DKFZp564O0523).
CR936726 - Homo sapiens mRNA; cDNA DKFZp779C1239 (from clone DKFZp779C1239).
KJ894926 - Synthetic construct Homo sapiens clone ccsbBroadEn_04320 RBM48 gene, encodes complete protein.
BC065716 - Homo sapiens hypothetical protein DKFZp564O0523, mRNA (cDNA clone IMAGE:4692052).
CR533549 - Homo sapiens full open reading frame cDNA clone RZPDo834B0220D for gene DKFZP564O0523, hypothetical protein DKFZp564O0523; complete cds, incl. stopcodon.
AK054777 - Homo sapiens cDNA FLJ30215 fis, clone BRACE2001692.
JD178617 - Sequence 159641 from Patent EP1572962.
BC020919 - Homo sapiens chromosome 7 open reading frame 64, mRNA (cDNA clone IMAGE:4773919), partial cds.
AK294626 - Homo sapiens cDNA FLJ53735 complete cds.
AK294812 - Homo sapiens cDNA FLJ56527 complete cds.
AF161422 - Homo sapiens HSPC304 mRNA, partial cds.
LF357572 - JP 2014500723-A/165075: Polycomb-Associated Non-Coding RNAs.
MA593149 - JP 2018138019-A/165075: Polycomb-Associated Non-Coding RNAs.
LF357571 - JP 2014500723-A/165074: Polycomb-Associated Non-Coding RNAs.
MA593148 - JP 2018138019-A/165074: Polycomb-Associated Non-Coding RNAs.
JD333418 - Sequence 314442 from Patent EP1572962.
JD534912 - Sequence 515936 from Patent EP1572962.
JD536625 - Sequence 517649 from Patent EP1572962.
JD070594 - Sequence 51618 from Patent EP1572962.
JD398824 - Sequence 379848 from Patent EP1572962.
JD150907 - Sequence 131931 from Patent EP1572962.
JD150908 - Sequence 131932 from Patent EP1572962.
JD254916 - Sequence 235940 from Patent EP1572962.
JD506028 - Sequence 487052 from Patent EP1572962.
JD107674 - Sequence 88698 from Patent EP1572962.
JD242930 - Sequence 223954 from Patent EP1572962.
JD064673 - Sequence 45697 from Patent EP1572962.
JD264894 - Sequence 245918 from Patent EP1572962.
JD045419 - Sequence 26443 from Patent EP1572962.
LF357570 - JP 2014500723-A/165073: Polycomb-Associated Non-Coding RNAs.
MA593147 - JP 2018138019-A/165073: Polycomb-Associated Non-Coding RNAs.
BC007365 - Homo sapiens hypothetical protein MGC16142, mRNA (cDNA clone IMAGE:3630861), partial cds.
JD108175 - Sequence 89199 from Patent EP1572962.
JD237656 - Sequence 218680 from Patent EP1572962.
JD099443 - Sequence 80467 from Patent EP1572962.
JD321575 - Sequence 302599 from Patent EP1572962.
JD279237 - Sequence 260261 from Patent EP1572962.
JD279047 - Sequence 260071 from Patent EP1572962.
JD077438 - Sequence 58462 from Patent EP1572962.
JD283079 - Sequence 264103 from Patent EP1572962.
JD360594 - Sequence 341618 from Patent EP1572962.
JD220985 - Sequence 202009 from Patent EP1572962.
JD552548 - Sequence 533572 from Patent EP1572962.
JD545078 - Sequence 526102 from Patent EP1572962.
JD477266 - Sequence 458290 from Patent EP1572962.
JD193644 - Sequence 174668 from Patent EP1572962.
JD566603 - Sequence 547627 from Patent EP1572962.
JD157010 - Sequence 138034 from Patent EP1572962.
JD098017 - Sequence 79041 from Patent EP1572962.
JD298071 - Sequence 279095 from Patent EP1572962.
JD467689 - Sequence 448713 from Patent EP1572962.
JD144534 - Sequence 125558 from Patent EP1572962.
JD472531 - Sequence 453555 from Patent EP1572962.
JD356883 - Sequence 337907 from Patent EP1572962.
JD430154 - Sequence 411178 from Patent EP1572962.
JD557327 - Sequence 538351 from Patent EP1572962.
JD529145 - Sequence 510169 from Patent EP1572962.
JD169234 - Sequence 150258 from Patent EP1572962.
JD041262 - Sequence 22286 from Patent EP1572962.
JD321020 - Sequence 302044 from Patent EP1572962.
JD175855 - Sequence 156879 from Patent EP1572962.
JD348492 - Sequence 329516 from Patent EP1572962.
JD518765 - Sequence 499789 from Patent EP1572962.
JD110588 - Sequence 91612 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B7ZL51, C7orf64, ENST00000265732.1, ENST00000265732.2, ENST00000265732.3, ENST00000265732.4, ENST00000265732.5, ENST00000265732.6, ENST00000265732.7, ENST00000265732.8, ENST00000265732.9, HSPC304, NM_032120, Q5H9T2, Q5RL73, Q8IYW7, Q96NS0, Q9H0V7, RBM48_HUMAN, uc003ulz.1, uc003ulz.2, uc003ulz.3, uc003ulz.4, uc003ulz.5
UCSC ID: ENST00000265732.10
RefSeq Accession: NM_032120
Protein: Q5RL73 (aka RBM48_HUMAN)
CCDS: CCDS43615.1

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