Human Gene SRRM4 (uc001txa.2)
  Description: Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.
RefSeq Summary (NM_194286): SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr12:119,419,300-119,600,856 Size: 181,557 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr12:119,419,688-119,594,603 Size: 174,916 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:119,419,300-119,600,856)mRNA (may differ from genome)Protein (611 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SRRM4_HUMAN
DESCRIPTION: RecName: Full=Serine/arginine repetitive matrix protein 4; AltName: Full=Medulloblastoma antigen MU-MB-2.76; AltName: Full=Neural-specific serine/arginine repetitive splicing factor of 100 kDa; Short=Neural-specific SR-related protein of 100 kDa; Short=nSR100;
FUNCTION: Splicing factor specifically required for neural cell differentiation. Acts in conjuction with nPTB/PTBP2 by binding directly to its regulated target transcripts and promotes neural- specific exon inclusion in many genes that function in neural cell differentiation. Required to promote the inclusion of neural- specific exon 10 in nPTB/PTBP2, leading to increased expression of neural-specific nPTB/PTBP2. Also promotes the inclusion of exon 16 in DAAM1 in neuron extracts (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Specifically expressed in neuronal cells (at protein level). Expressed in the cerebellum.
PTM: Phosphorylated (By similarity).
SIMILARITY: Belongs to the nSR100 family.
SEQUENCE CAUTION: Sequence=BAB47482.1; Type=Erroneous initiation;

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SRRM4
CDC HuGE Published Literature: SRRM4

-  MalaCards Disease Associations
  MalaCards Gene Search: SRRM4
Diseases sorted by gene-association score: medulloblastoma (4)

-  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: 37.97 RPKM in Brain - Cerebellum
Total median expression: 123.63 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 -157.04388-0.405 Picture PostScript Text
3' UTR -2130.716253-0.341 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
  Pfam Domains:
PF15230 - Serine/arginine repetitive matrix protein C-terminus

ModBase Predicted Comparative 3D Structure on A7MD48
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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 orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003729 mRNA binding

Biological Process:
GO:0000381 regulation of alternative mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0007399 nervous system development
GO:0007605 sensory perception of sound
GO:0008380 RNA splicing
GO:0030154 cell differentiation
GO:0043484 regulation of RNA splicing

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AK291361 - Homo sapiens cDNA FLJ77546 complete cds.
AB058756 - Homo sapiens KIAA1853 mRNA for KIAA1853 protein.
BC152471 - Homo sapiens KIAA1853, mRNA (cDNA clone MGC:176729 IMAGE:8862608), complete cds.
BC167162 - Homo sapiens KIAA1853, mRNA (cDNA clone MGC:176738 IMAGE:8862617), complete cds.
BC167163 - Homo sapiens KIAA1853, mRNA (cDNA clone MGC:176739 IMAGE:8862618), complete cds.
AB384643 - Synthetic construct DNA, clone: pF1KA1853, Homo sapiens KIAA1853 gene for KIAA1853 protein, complete cds, without stop codon, in Flexi system.
BC167787 - Synthetic construct Homo sapiens clone IMAGE:100068177, MGC:195794 KIAA1853 (KIAA1853) mRNA, encodes complete protein.
KC995185 - Homo sapiens cell-line NCI-N417 serine/arginine repetitive matrix 4 (SRRM4) mRNA, complete cds.
KC995186 - Homo sapiens cell-line NCI-H82 serine/arginine repetitive matrix 4 (SRRM4) mRNA, complete cds.
JD157144 - Sequence 138168 from Patent EP1572962.
JD038459 - Sequence 19483 from Patent EP1572962.
JD520076 - Sequence 501100 from Patent EP1572962.
JD429967 - Sequence 410991 from Patent EP1572962.
JD065900 - Sequence 46924 from Patent EP1572962.
JD477835 - Sequence 458859 from Patent EP1572962.
JD443645 - Sequence 424669 from Patent EP1572962.
JD211607 - Sequence 192631 from Patent EP1572962.
JD143173 - Sequence 124197 from Patent EP1572962.
JD392394 - Sequence 373418 from Patent EP1572962.
JD236047 - Sequence 217071 from Patent EP1572962.
JD499919 - Sequence 480943 from Patent EP1572962.
JD226584 - Sequence 207608 from Patent EP1572962.
JD129935 - Sequence 110959 from Patent EP1572962.
JD328097 - Sequence 309121 from Patent EP1572962.
JD040347 - Sequence 21371 from Patent EP1572962.
JD277111 - Sequence 258135 from Patent EP1572962.
JD161727 - Sequence 142751 from Patent EP1572962.
JD175054 - Sequence 156078 from Patent EP1572962.
JD326865 - Sequence 307889 from Patent EP1572962.
JD468391 - Sequence 449415 from Patent EP1572962.
JD304228 - Sequence 285252 from Patent EP1572962.
JD309347 - Sequence 290371 from Patent EP1572962.
JD066998 - Sequence 48022 from Patent EP1572962.
JD062251 - Sequence 43275 from Patent EP1572962.
JD469150 - Sequence 450174 from Patent EP1572962.
JD339020 - Sequence 320044 from Patent EP1572962.
AY130006 - Homo sapiens MU-MB-2.76 mRNA, partial cds.
JD391307 - Sequence 372331 from Patent EP1572962.
JD533501 - Sequence 514525 from Patent EP1572962.
JD130841 - Sequence 111865 from Patent EP1572962.
JD242178 - Sequence 223202 from Patent EP1572962.
JD483642 - Sequence 464666 from Patent EP1572962.
JD491082 - Sequence 472106 from Patent EP1572962.
JD194021 - Sequence 175045 from Patent EP1572962.
JD261498 - Sequence 242522 from Patent EP1572962.
JD396890 - Sequence 377914 from Patent EP1572962.
JD390008 - Sequence 371032 from Patent EP1572962.
JD175324 - Sequence 156348 from Patent EP1572962.
JD469990 - Sequence 451014 from Patent EP1572962.
JD098637 - Sequence 79661 from Patent EP1572962.
JD536570 - Sequence 517594 from Patent EP1572962.
JD390736 - Sequence 371760 from Patent EP1572962.
JD405949 - Sequence 386973 from Patent EP1572962.
JD192807 - Sequence 173831 from Patent EP1572962.
JD393130 - Sequence 374154 from Patent EP1572962.
JD054135 - Sequence 35159 from Patent EP1572962.
JD122322 - Sequence 103346 from Patent EP1572962.
JD253751 - Sequence 234775 from Patent EP1572962.
JD165512 - Sequence 146536 from Patent EP1572962.
JD426280 - Sequence 407304 from Patent EP1572962.
JD447780 - Sequence 428804 from Patent EP1572962.
JD085418 - Sequence 66442 from Patent EP1572962.
JD057892 - Sequence 38916 from Patent EP1572962.
JD308463 - Sequence 289487 from Patent EP1572962.
JD154183 - Sequence 135207 from Patent EP1572962.
JD040000 - Sequence 21024 from Patent EP1572962.
JD445481 - Sequence 426505 from Patent EP1572962.
JD336359 - Sequence 317383 from Patent EP1572962.
JD067318 - Sequence 48342 from Patent EP1572962.
JD360469 - Sequence 341493 from Patent EP1572962.
JD157062 - Sequence 138086 from Patent EP1572962.
JD053962 - Sequence 34986 from Patent EP1572962.
JD191332 - Sequence 172356 from Patent EP1572962.
JD392016 - Sequence 373040 from Patent EP1572962.
JD143216 - Sequence 124240 from Patent EP1572962.
JD457067 - Sequence 438091 from Patent EP1572962.
JD073581 - Sequence 54605 from Patent EP1572962.
JD169145 - Sequence 150169 from Patent EP1572962.
JD208537 - Sequence 189561 from Patent EP1572962.
JD147321 - Sequence 128345 from Patent EP1572962.
JD400344 - Sequence 381368 from Patent EP1572962.
JD256123 - Sequence 237147 from Patent EP1572962.
JD309167 - Sequence 290191 from Patent EP1572962.
JD522064 - Sequence 503088 from Patent EP1572962.
JD086201 - Sequence 67225 from Patent EP1572962.
JD403542 - Sequence 384566 from Patent EP1572962.
JD166012 - Sequence 147036 from Patent EP1572962.
JD039939 - Sequence 20963 from Patent EP1572962.
JD229065 - Sequence 210089 from Patent EP1572962.
JD440856 - Sequence 421880 from Patent EP1572962.
JD444368 - Sequence 425392 from Patent EP1572962.
JD468644 - Sequence 449668 from Patent EP1572962.
JD449328 - Sequence 430352 from Patent EP1572962.
JD068604 - Sequence 49628 from Patent EP1572962.
JD090758 - Sequence 71782 from Patent EP1572962.
JD475550 - Sequence 456574 from Patent EP1572962.
JD088671 - Sequence 69695 from Patent EP1572962.
AK125400 - Homo sapiens cDNA FLJ43411 fis, clone OCBBF2021286.
JD267657 - Sequence 248681 from Patent EP1572962.
JD119424 - Sequence 100448 from Patent EP1572962.
JD158345 - Sequence 139369 from Patent EP1572962.
JD274106 - Sequence 255130 from Patent EP1572962.
JD328340 - Sequence 309364 from Patent EP1572962.
JD414153 - Sequence 395177 from Patent EP1572962.
JD292022 - Sequence 273046 from Patent EP1572962.
JD228244 - Sequence 209268 from Patent EP1572962.
JD440334 - Sequence 421358 from Patent EP1572962.
JD263126 - Sequence 244150 from Patent EP1572962.
JD219795 - Sequence 200819 from Patent EP1572962.
JD245919 - Sequence 226943 from Patent EP1572962.
AK055717 - Homo sapiens cDNA FLJ31155 fis, clone IMR322001670.
JD087336 - Sequence 68360 from Patent EP1572962.
JD551284 - Sequence 532308 from Patent EP1572962.
JD089309 - Sequence 70333 from Patent EP1572962.
JD061564 - Sequence 42588 from Patent EP1572962.
JD261460 - Sequence 242484 from Patent EP1572962.
JD161953 - Sequence 142977 from Patent EP1572962.
JD493869 - Sequence 474893 from Patent EP1572962.
JD113097 - Sequence 94121 from Patent EP1572962.
JD279489 - Sequence 260513 from Patent EP1572962.
JD337379 - Sequence 318403 from Patent EP1572962.
JD148140 - Sequence 129164 from Patent EP1572962.
JD258051 - Sequence 239075 from Patent EP1572962.
JD244684 - Sequence 225708 from Patent EP1572962.
JD358041 - Sequence 339065 from Patent EP1572962.
JD521169 - Sequence 502193 from Patent EP1572962.
JD314080 - Sequence 295104 from Patent EP1572962.
JD544868 - Sequence 525892 from Patent EP1572962.
JD258727 - Sequence 239751 from Patent EP1572962.
JD361425 - Sequence 342449 from Patent EP1572962.
JD548285 - Sequence 529309 from Patent EP1572962.
JD163183 - Sequence 144207 from Patent EP1572962.
JD115156 - Sequence 96180 from Patent EP1572962.
JD207986 - Sequence 189010 from Patent EP1572962.
JD553971 - Sequence 534995 from Patent EP1572962.
JD440030 - Sequence 421054 from Patent EP1572962.
JD309448 - Sequence 290472 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A7MD48, A8K5P6, B2RZH7, KIAA1853, NM_194286, NP_919262, Q7Z5F0, Q96JH4, SRRM4_HUMAN
UCSC ID: uc001txa.2
RefSeq Accession: NM_194286
Protein: A7MD48 (aka SRRM4_HUMAN)
CCDS: CCDS44994.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_194286.3
exon count: 13CDS single in 3' UTR: no RNA size: 8494
ORF size: 1836CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3866.00frame shift in genome: no % Coverage: 99.80
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.