Human Gene RBM28 (ENST00000223073.6_7) from GENCODE V47lift37
  Description: RNA binding motif protein 28, transcript variant 1 (from RefSeq NM_018077.3)
Gencode Transcript: ENST00000223073.6_7
Gencode Gene: ENSG00000106344.8_13
Transcript (Including UTRs)
   Position: hg19 chr7:127,937,738-127,983,962 Size: 46,225 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr7:127,950,850-127,983,847 Size: 32,998 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:127,937,738-127,983,962)mRNA (may differ from genome)Protein (759 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RBM28_HUMAN
DESCRIPTION: RecName: Full=RNA-binding protein 28; AltName: Full=RNA-binding motif protein 28;
FUNCTION: Nucleolar component of the spliceosomal ribonucleoprotein complexes.
SUBUNIT: Interacts with U1, U2, U4, U5, and U6 spliceosomal small nuclear RNAs (snRNAs).
SUBCELLULAR LOCATION: Nucleus, nucleolus.
TISSUE SPECIFICITY: Ubiquitously expressed.
DISEASE: Defects in RBM28 are the cause of alopecia neurologic defects and endocrinopathy syndrome (ANES) [MIM:612079]. Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe mental retardation, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat.
SIMILARITY: Contains 4 RRM (RNA recognition motif) domains.

-  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: RBM28
Diseases sorted by gene-association score: alopecia, neurologic defects, and endocrinopathy syndrome* (1730), alopecia (37), acrocallosal syndrome (4)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.54 RPKM in Nerve - Tibial
Total median expression: 139.67 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 -44.60115-0.388 Picture PostScript Text
3' UTR -4459.9013112-0.340 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
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

SCOP Domains:
54928 - RNA-binding domain, RBD

ModBase Predicted Comparative 3D Structure on Q9NW13
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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
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGD   SGD
     Protein Sequence
     Alignment

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

Biological Process:
GO:0006397 mRNA processing
GO:0008380 RNA splicing

Cellular Component:
GO:0005634 nucleus
GO:0005681 spliceosomal complex
GO:0005730 nucleolus


-  Descriptions from all associated GenBank mRNAs
  CR936803 - Homo sapiens mRNA; cDNA DKFZp781G2113 (from clone DKFZp781G2113).
JD340775 - Sequence 321799 from Patent EP1572962.
JD291598 - Sequence 272622 from Patent EP1572962.
JD431206 - Sequence 412230 from Patent EP1572962.
LP896607 - Sequence 1471 from Patent EP3253886.
AK001384 - Homo sapiens cDNA FLJ10522 fis, clone NT2RP2000845.
BC024231 - Homo sapiens hypothetical protein MGC27345, mRNA (cDNA clone MGC:27345 IMAGE:4670552), complete cds.
JD085238 - Sequence 66262 from Patent EP1572962.
JD499016 - Sequence 480040 from Patent EP1572962.
JD309730 - Sequence 290754 from Patent EP1572962.
JD098803 - Sequence 79827 from Patent EP1572962.
JD052022 - Sequence 33046 from Patent EP1572962.
JD382195 - Sequence 363219 from Patent EP1572962.
JD456792 - Sequence 437816 from Patent EP1572962.
JD075149 - Sequence 56173 from Patent EP1572962.
JD285451 - Sequence 266475 from Patent EP1572962.
JD272880 - Sequence 253904 from Patent EP1572962.
JD235436 - Sequence 216460 from Patent EP1572962.
JD331017 - Sequence 312041 from Patent EP1572962.
JD545490 - Sequence 526514 from Patent EP1572962.
JD364354 - Sequence 345378 from Patent EP1572962.
JD417135 - Sequence 398159 from Patent EP1572962.
JD398260 - Sequence 379284 from Patent EP1572962.
JD514146 - Sequence 495170 from Patent EP1572962.
JD514145 - Sequence 495169 from Patent EP1572962.
JD384781 - Sequence 365805 from Patent EP1572962.
JD321703 - Sequence 302727 from Patent EP1572962.
JD095235 - Sequence 76259 from Patent EP1572962.
JD268830 - Sequence 249854 from Patent EP1572962.
JD550370 - Sequence 531394 from Patent EP1572962.
JD562198 - Sequence 543222 from Patent EP1572962.
JD166187 - Sequence 147211 from Patent EP1572962.
JD262548 - Sequence 243572 from Patent EP1572962.
JD556859 - Sequence 537883 from Patent EP1572962.
JD293535 - Sequence 274559 from Patent EP1572962.
JD234228 - Sequence 215252 from Patent EP1572962.
JD270558 - Sequence 251582 from Patent EP1572962.
JD234227 - Sequence 215251 from Patent EP1572962.
JD550369 - Sequence 531393 from Patent EP1572962.
JD293534 - Sequence 274558 from Patent EP1572962.
JD558198 - Sequence 539222 from Patent EP1572962.
JD063922 - Sequence 44946 from Patent EP1572962.
JD441113 - Sequence 422137 from Patent EP1572962.
JD295620 - Sequence 276644 from Patent EP1572962.
JD129377 - Sequence 110401 from Patent EP1572962.
JD323247 - Sequence 304271 from Patent EP1572962.
JD080114 - Sequence 61138 from Patent EP1572962.
JD339282 - Sequence 320306 from Patent EP1572962.
JD287994 - Sequence 269018 from Patent EP1572962.
JD287993 - Sequence 269017 from Patent EP1572962.
JD430989 - Sequence 412013 from Patent EP1572962.
JD326928 - Sequence 307952 from Patent EP1572962.
JD558521 - Sequence 539545 from Patent EP1572962.
JD350392 - Sequence 331416 from Patent EP1572962.
JD463748 - Sequence 444772 from Patent EP1572962.
JD478498 - Sequence 459522 from Patent EP1572962.
JD543172 - Sequence 524196 from Patent EP1572962.
JD249703 - Sequence 230727 from Patent EP1572962.
JD543171 - Sequence 524195 from Patent EP1572962.
JD174162 - Sequence 155186 from Patent EP1572962.
JD188974 - Sequence 169998 from Patent EP1572962.
DQ599575 - Homo sapiens piRNA piR-37641, complete sequence.
JD247473 - Sequence 228497 from Patent EP1572962.
JD492292 - Sequence 473316 from Patent EP1572962.
JD301351 - Sequence 282375 from Patent EP1572962.
JD091864 - Sequence 72888 from Patent EP1572962.
JD493119 - Sequence 474143 from Patent EP1572962.
JD506645 - Sequence 487669 from Patent EP1572962.
JD153460 - Sequence 134484 from Patent EP1572962.
JD162398 - Sequence 143422 from Patent EP1572962.
JD120001 - Sequence 101025 from Patent EP1572962.
JD202633 - Sequence 183657 from Patent EP1572962.
JD423885 - Sequence 404909 from Patent EP1572962.
JD440382 - Sequence 421406 from Patent EP1572962.
JD334937 - Sequence 315961 from Patent EP1572962.
JD420513 - Sequence 401537 from Patent EP1572962.
JD477017 - Sequence 458041 from Patent EP1572962.
JD560783 - Sequence 541807 from Patent EP1572962.
JD329909 - Sequence 310933 from Patent EP1572962.
JD441810 - Sequence 422834 from Patent EP1572962.
JD128140 - Sequence 109164 from Patent EP1572962.
JD514089 - Sequence 495113 from Patent EP1572962.
JD514090 - Sequence 495114 from Patent EP1572962.
LF360839 - JP 2014500723-A/168342: Polycomb-Associated Non-Coding RNAs.
LF360840 - JP 2014500723-A/168343: Polycomb-Associated Non-Coding RNAs.
LF384085 - JP 2014500723-A/191588: Polycomb-Associated Non-Coding RNAs.
AK001239 - Homo sapiens cDNA FLJ10377 fis, clone NT2RM2001989, weakly similar to NUCLEOLAR PROTEIN NOP4.
JD410378 - Sequence 391402 from Patent EP1572962.
JD069052 - Sequence 50076 from Patent EP1572962.
JD296629 - Sequence 277653 from Patent EP1572962.
AK300500 - Homo sapiens cDNA FLJ50221 complete cds, highly similar to RNA-binding protein 28.
AK222716 - Homo sapiens mRNA for RNA binding motif protein 28 variant, clone: COL06020.
BC013889 - Homo sapiens RNA binding motif protein 28, mRNA (cDNA clone MGC:11192 IMAGE:3926178), complete cds.
JD046865 - Sequence 27889 from Patent EP1572962.
JD232156 - Sequence 213180 from Patent EP1572962.
JD304919 - Sequence 285943 from Patent EP1572962.
JD253160 - Sequence 234184 from Patent EP1572962.
JD325232 - Sequence 306256 from Patent EP1572962.
KJ894136 - Synthetic construct Homo sapiens clone ccsbBroadEn_03530 RBM28 gene, encodes complete protein.
KR710309 - Synthetic construct Homo sapiens clone CCSBHm_00011409 RBM28 (RBM28) mRNA, encodes complete protein.
KU178685 - Homo sapiens RNA binding motif protein 28 isoform 1 (RBM28) mRNA, partial cds.
KU178686 - Homo sapiens RNA binding motif protein 28 isoform 2 (RBM28) mRNA, complete cds, alternatively spliced.
LF360841 - JP 2014500723-A/168344: Polycomb-Associated Non-Coding RNAs.
LF360842 - JP 2014500723-A/168345: Polycomb-Associated Non-Coding RNAs.
LF360843 - JP 2014500723-A/168346: Polycomb-Associated Non-Coding RNAs.
LF360844 - JP 2014500723-A/168347: Polycomb-Associated Non-Coding RNAs.
LF360845 - JP 2014500723-A/168348: Polycomb-Associated Non-Coding RNAs.
AK295976 - Homo sapiens cDNA FLJ51865 complete cds, highly similar to RNA-binding protein 28.
LF360847 - JP 2014500723-A/168350: Polycomb-Associated Non-Coding RNAs.
CU680694 - Synthetic construct Homo sapiens gateway clone IMAGE:100020445 5' read RBM28 mRNA.
LF360848 - JP 2014500723-A/168351: Polycomb-Associated Non-Coding RNAs.
LF360852 - JP 2014500723-A/168355: Polycomb-Associated Non-Coding RNAs.
JD033849 - Sequence 14873 from Patent EP1572962.
LF360854 - JP 2014500723-A/168357: Polycomb-Associated Non-Coding RNAs.
LF360855 - JP 2014500723-A/168358: Polycomb-Associated Non-Coding RNAs.
LF360857 - JP 2014500723-A/168360: Polycomb-Associated Non-Coding RNAs.
LF360858 - JP 2014500723-A/168361: Polycomb-Associated Non-Coding RNAs.
MA619662 - JP 2018138019-A/191588: Polycomb-Associated Non-Coding RNAs.
MA596416 - JP 2018138019-A/168342: Polycomb-Associated Non-Coding RNAs.
MA596417 - JP 2018138019-A/168343: Polycomb-Associated Non-Coding RNAs.
MA596418 - JP 2018138019-A/168344: Polycomb-Associated Non-Coding RNAs.
MA596419 - JP 2018138019-A/168345: Polycomb-Associated Non-Coding RNAs.
MA596420 - JP 2018138019-A/168346: Polycomb-Associated Non-Coding RNAs.
MA596421 - JP 2018138019-A/168347: Polycomb-Associated Non-Coding RNAs.
MA596422 - JP 2018138019-A/168348: Polycomb-Associated Non-Coding RNAs.
MA596424 - JP 2018138019-A/168350: Polycomb-Associated Non-Coding RNAs.
MA596425 - JP 2018138019-A/168351: Polycomb-Associated Non-Coding RNAs.
MA596429 - JP 2018138019-A/168355: Polycomb-Associated Non-Coding RNAs.
MA596431 - JP 2018138019-A/168357: Polycomb-Associated Non-Coding RNAs.
MA596432 - JP 2018138019-A/168358: Polycomb-Associated Non-Coding RNAs.
MA596434 - JP 2018138019-A/168360: Polycomb-Associated Non-Coding RNAs.
MA596435 - JP 2018138019-A/168361: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A4D100, B4DU52, E9PDD9, ENST00000223073.1, ENST00000223073.2, ENST00000223073.3, ENST00000223073.4, ENST00000223073.5, NM_018077, Q53H65, Q96CV3, Q9NW13, RBM28_HUMAN, uc317dgk.1, uc317dgk.2
UCSC ID: ENST00000223073.6_7
RefSeq Accession: NM_018077.3
Protein: Q9NW13 (aka RBM28_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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