Human Gene RBMS1 (ENST00000348849.8_7) from GENCODE V47lift37
  Description: RNA binding motif single stranded interacting protein 1, transcript variant 1 (from RefSeq NM_016836.4)
Gencode Transcript: ENST00000348849.8_7
Gencode Gene: ENSG00000153250.21_13
Transcript (Including UTRs)
   Position: hg19 chr2:161,128,662-161,350,318 Size: 221,657 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr2:161,132,148-161,349,874 Size: 217,727 Coding Exon Count: 13 

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 (chr2:161,128,662-161,350,318)mRNA (may differ from genome)Protein (406 aa)
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-  Comments and Description Text from UniProtKB
  ID: RBMS1_HUMAN
DESCRIPTION: RecName: Full=RNA-binding motif, single-stranded-interacting protein 1; AltName: Full=Single-stranded DNA-binding protein MSSP-1; AltName: Full=Suppressor of CDC2 with RNA-binding motif 2;
FUNCTION: Single-stranded DNA binding protein that interacts with the region upstream of the MYC gene. Binds specifically to the DNA sequence motif 5'-[AT]CT[AT][AT]T-3'. Probably has a role in DNA replication.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Highest amounts are found in placenta, lung and heart.
DEVELOPMENTAL STAGE: Expressed at highest levels during the G1 to S transition of the cell cycle.
SIMILARITY: Contains 2 RRM (RNA recognition motif) domains.
SEQUENCE CAUTION: Sequence=AAX93095.1; Type=Erroneous gene model prediction; Sequence=CAA45923.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA45923.1; Type=Frameshift; Positions=319, 360; Sequence=CAA54628.1; Type=Erroneous translation; Note=Wrong coding sequence;

-  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: RBMS1
Diseases sorted by gene-association score: blue toe syndrome (2)

-  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: 32.59 RPKM in Cells - Cultured fibroblasts
Total median expression: 702.75 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 -203.60444-0.459 Picture PostScript Text
3' UTR -607.202621-0.232 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
IPR002343 - Hud_Sxl_RNA
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

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1X5O - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P29558
FrontTopSide
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 orthologNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGD  WormBase 
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003690 double-stranded DNA binding
GO:0003697 single-stranded DNA binding
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0006260 DNA replication
GO:0006396 RNA processing

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC018951 - Homo sapiens RNA binding motif, single stranded interacting protein 1, mRNA (cDNA clone MGC:15146 IMAGE:4137722), complete cds.
AK297812 - Homo sapiens cDNA FLJ61322 complete cds, highly similar to RNA-binding motif,single-stranded-interacting protein 1.
X77494 - H.sapiens MSSP-2 mRNA.
BC051889 - Homo sapiens RNA binding motif, single stranded interacting protein 1, mRNA (cDNA clone IMAGE:5194432).
BC012992 - Homo sapiens RNA binding motif, single stranded interacting protein 1, mRNA (cDNA clone MGC:3331 IMAGE:3530897), complete cds.
BC012993 - Homo sapiens RNA binding motif, single stranded interacting protein 1, mRNA (cDNA clone MGC:3332 IMAGE:3530898), complete cds.
X64652 - H.sapiens MSSP-1 mRNA.
L11289 - Human YC1 mRNA sequence.
AK225887 - Homo sapiens mRNA for RNA binding motif, single stranded interacting protein 1 isoform a variant, clone: FCC121F03.
D28482 - Homo sapiens scr2 mRNA for RNA binding protein SCR2, complete cds.
HQ448269 - Synthetic construct Homo sapiens clone IMAGE:100071671; CCSB006822_04 RNA binding motif, single stranded interacting protein 1 (RBMS1) gene, encodes complete protein.
KJ891989 - Synthetic construct Homo sapiens clone ccsbBroadEn_01383 RBMS1 gene, encodes complete protein.
KU178305 - Homo sapiens RNA binding motif single stranded interacting protein 1 isoform 1 (RBMS1) mRNA, partial cds.
KU178306 - Homo sapiens RNA binding motif single stranded interacting protein 1 isoform 2 (RBMS1) mRNA, partial cds, alternatively spliced.
AK309949 - Homo sapiens cDNA, FLJ99990.
CU676342 - Synthetic construct Homo sapiens gateway clone IMAGE:100017196 5' read RBMS1 mRNA.
AL117617 - Homo sapiens mRNA; cDNA DKFZp564H0764 (from clone DKFZp564H0764).
AF358454 - Homo sapiens cervical cancer oncogene 4 mRNA, complete cds.
BC065192 - Homo sapiens RNA binding motif, single stranded interacting protein 1, mRNA (cDNA clone IMAGE:5205269), complete cds.
JD300477 - Sequence 281501 from Patent EP1572962.
JD502366 - Sequence 483390 from Patent EP1572962.
BC069687 - Homo sapiens RNA binding motif, single stranded interacting protein 1, mRNA (cDNA clone IMAGE:7262507), complete cds.
BC069706 - Homo sapiens RNA binding motif, single stranded interacting protein 1, mRNA (cDNA clone IMAGE:7262519), complete cds.
BC069763 - Homo sapiens RNA binding motif, single stranded interacting protein 1, mRNA (cDNA clone IMAGE:7262531), complete cds.
BC080620 - Homo sapiens RNA binding motif, single stranded interacting protein 1, mRNA (cDNA clone IMAGE:6258155), complete cds.
JD244442 - Sequence 225466 from Patent EP1572962.
JD444112 - Sequence 425136 from Patent EP1572962.
JD159308 - Sequence 140332 from Patent EP1572962.
JD467425 - Sequence 448449 from Patent EP1572962.
JD527242 - Sequence 508266 from Patent EP1572962.
JD061272 - Sequence 42296 from Patent EP1572962.
JD288715 - Sequence 269739 from Patent EP1572962.
JD450583 - Sequence 431607 from Patent EP1572962.
KJ901698 - Synthetic construct Homo sapiens clone ccsbBroadEn_11092 RBMS1 gene, encodes complete protein.
JD370794 - Sequence 351818 from Patent EP1572962.
JD508661 - Sequence 489685 from Patent EP1572962.
JD056064 - Sequence 37088 from Patent EP1572962.
JD304148 - Sequence 285172 from Patent EP1572962.
JD273769 - Sequence 254793 from Patent EP1572962.
BC037862 - Homo sapiens RNA binding motif, single stranded interacting protein 1, mRNA (cDNA clone IMAGE:5272745), with apparent retained intron.
BX648246 - Homo sapiens mRNA; cDNA DKFZp686O05108 (from clone DKFZp686O05108).
AK127157 - Homo sapiens cDNA FLJ45219 fis, clone BRCAN2019773, highly similar to Homo sapiens RNA binding motif, single stranded interacting protein 1 (RBMS1).
AK021704 - Homo sapiens cDNA FLJ11642 fis, clone HEMBA1004356, highly similar to H.sapiens MSSP-2 mRNA.
JD146419 - Sequence 127443 from Patent EP1572962.
JD091752 - Sequence 72776 from Patent EP1572962.
JD084799 - Sequence 65823 from Patent EP1572962.
JD068888 - Sequence 49912 from Patent EP1572962.
JD458584 - Sequence 439608 from Patent EP1572962.
JD271294 - Sequence 252318 from Patent EP1572962.
JD458522 - Sequence 439546 from Patent EP1572962.
JD458516 - Sequence 439540 from Patent EP1572962.
JD458521 - Sequence 439545 from Patent EP1572962.
JD458515 - Sequence 439539 from Patent EP1572962.
JD271291 - Sequence 252315 from Patent EP1572962.
JD406055 - Sequence 387079 from Patent EP1572962.
JD458510 - Sequence 439534 from Patent EP1572962.
JD458511 - Sequence 439535 from Patent EP1572962.
JD458513 - Sequence 439537 from Patent EP1572962.
JD317504 - Sequence 298528 from Patent EP1572962.
JD187227 - Sequence 168251 from Patent EP1572962.
JD187226 - Sequence 168250 from Patent EP1572962.
JD404652 - Sequence 385676 from Patent EP1572962.
JD461122 - Sequence 442146 from Patent EP1572962.
JD370503 - Sequence 351527 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: C2orf12, ENST00000348849.1, ENST00000348849.2, ENST00000348849.3, ENST00000348849.4, ENST00000348849.5, ENST00000348849.6, ENST00000348849.7, MSSP, MSSP1, NM_016836, P29558, Q14869, Q15433, Q53P46, Q53QX8, Q53RG6, Q8WV20, RBMS1_HUMAN, SCR2, uc317xsw.1, uc317xsw.2
UCSC ID: ENST00000348849.8_7
RefSeq Accession: NM_016836.4
Protein: P29558 (aka RBMS1_HUMAN or MSSP_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.