SRRM4 Gene
protein-coding GIFtS : 45
GCID: GC12 P119420
serine/arginine repetitive matrix 4 (Previous name: KIAA1853 ) (Previous symbol: KIAA1853 )
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Aliasesfor SRRM4 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Serine/Arginine Repetitive Matrix 4 1 2 Neural-Specific SR-Related Protein Of 100 KDa2 3 KIAA18531 2 3 5 MU-MB-2.762 NSR1005 Serine/Arginine Repetitive Matrix Protein 42 Medulloblastoma Antigen MU-MB-2.762 3 NSR1005 Neural-Specific Serine/Arginine Repetitive Splicing Factor Of 100 KDa2 3
Export aliases for SRRM4 gene to outside databases Previous GC identifers: GC12P117903 GC12P116428
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Summariesfor SRRM4 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for SRRM4 : SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 (PubMed 19737518)).(supplied by OMIM, Oct 2009) UniProtKB/Swiss-Prot: SRRM4_HUMAN, A7MD48 Function : Splicing factor specifically required for neural cell differentiation. Acts in conjuction with nPTB/PTBP2 bybinding 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)
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Genomic Viewsfor SRRM4 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000012.11 NC_018923.1 NT_009775.17 Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for SRRM4 Other transcription factors Search SABiosciences Chromatin IP Primers for SRRM4 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat SRRM4
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 12q24.23 Ensembl cytogenetic band: 12q24.23 HGNC cytogenetic band: 12q24.23 SRRM4 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 12 GeneLoc Exon Structure
GeneLoc location for GC12P119420: view genomic region
(about GC identifiers )
Start:
119,419,300 bp from pter
End:
119,600,857 bp from pter
Size:
181,558 bases
Orientation:
plus strand
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Proteinsfor SRRM4 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: SRRM4_HUMAN, A7MD48 (See
protein sequence )Recommended Name: Serine/arginine repetitive matrix protein 4 Size : 611 amino acids; 68559 Da
Subcellular location : Nucleus (By similarity)
Sequence caution : Sequence=BAB47482.1; Type=Erroneous initiation;
Secondary accessions : A8K5P6 B2RZH7 Q7Z5F0 Q96JH4Explore the universe of human proteins at neXtProt for SRRM4: NX_A7MD48 Post-translational modifications:
Phosphorylated (By similarity)1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_A7MD48 SRRM4 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_919262.2 ENSEMBL proteins: ENSP00000267260 Human Recombinant Protein Products: Gene Ontology (GO): 1 cellular component term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005634 nucleus
ISS --
SRRM4 for ontologies About GeneDecksing SRRM4 Antibody Products: Assay Products for SRRM4:
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Protein
Domains / Familiesfor SRRM4 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section ProtoNet protein and cluster: A7MD48
UniProtKB/Swiss-Prot: SRRM4_HUMAN, A7MD48 Similarity : Belongs to the nSR100 family
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Functionfor SRRM4 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: SRRM4_HUMAN, A7MD48 Function : Splicing factor specifically required for neural cell differentiation. Acts in conjuction with nPTB/PTBP2 bybinding 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)
Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SRRM4 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SRRM4OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: SRRM4 (NM_194286 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SRRM4 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SRRM4
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRRM4
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0003729 mRNA binding
ISS --
SRRM4 for ontologies About GeneDecksing 2 GenomeRNAi human phenotypes for SRRM4 :
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Pathways & Interactionsfor SRRM4 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Interactions: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SRRM4 1 Interacting protein for SRRM4 (A7MD48 3 ) via UniProtKB, MINT, STRING, and/or I2D About this table Gene Ontology (GO): 5 biological process terms (GO ID links to tree view) : About this table
SRRM4 for ontologies About GeneDecksing
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Drugs & Compoundsfor SRRM4 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section Browse Tocris compounds for SRRM4 Search CenterWatch for drugs/clinical trials and news about SRRM4
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Transcriptsfor SRRM4 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for SRRM4 gene: NM_194286.3 Unigene Cluster for SRRM4:
Serine/arginine repetitive matrix 4 Hs.112577 [show with all ESTs ] Unigene Representative Sequence: NM_194286 3 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000267260 (uc001txa.2 ) ENST00000545224 ENST00000537597 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SRRM4 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SRRM4OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: SRRM4 (NM_194286 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SRRM4 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SRRM4
Additional cDNA sequence: AB058756.1 AK055717.1 AK125400.1 AK291361.1 AY130006.1 BC152471.1 BC167162.1 BC167163.1
1 DOTS entry : DT.306671
24/64 AceView cDNA sequences (see all 64 ):
BQ719476 AI701523 AB058756 AA324027 R12793 BX281343 NM_194286 BM672974 AA608629 BE218946 BX488955 BM723637 AI887860 F23308 AW594642 AL707158 BF062141 BM927278 R87586 AW962002 CA976031 BQ070814 BM686798 AW071669 GeneLoc Exon Structure 3 Alternative Splicing Database (ASD) splice patterns (SP) for SRRM4 About this scheme ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 SP1 :       -         SP2 :       -         SP3 :              
ECgene alternative splicing isoforms for SRRM4
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Expression for SRRM4 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section SRRM4 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GTATGGTGTT
About this image SRRM4 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table 2 LifeMap In Vivo Development Anatomical Compartments/Cells Tissue Anatomical Compartment
Cell Category (developmental path) Brain Blood Brain Barrier Endothelial Cells Blood Brain Barrier, Endothelium Bone Maxillary Process Bone Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See SRRM4 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SRRM4 SOURCE GeneReport for Unigene cluster: Hs.112577 UniProtKB/Swiss-Prot: SRRM4_HUMAN, A7MD48 Tissue specificity : Specifically expressed in neuronal cells (at protein level). Expressed in the cerebellum SABiosciences Custom PCR Arrays for SRRM4 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SRRM4Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat SRRM4 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SRRM4 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SRRM4 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRRM4
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Orthologsfor SRRM4 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for SRRM4 gene from 5/17 species (see all 17 ) About this table
ENSEMBL Gene Tree for SRRM4 (if available)TreeFam Gene Tree for SRRM4 (if available)
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Paralogsfor SRRM4 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for SRRM4 gene SRRM3 2 SRRM2 2 SRRM1 2 C2orf16 2 SRRM5 2
SRRM4 for paralogs About GeneDecksing
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Genomic Variantsfor SRRM4 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 12 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for SRRM4 (119419300 - 119600857 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for SRRM4 1 CNV : 1933
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SRRM4
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Disorders
/ Diseasesfor SRRM4 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
SRRM4 for disorders About GeneDecksing
OMIM gene information: 613103
OMIM disorders : --7 diseases for SRRM4 : About MalaCards medulloblastoma large cell medulloblastoma childhood medulloblastoma macular degeneration ataxia malaria neuronitis Human Genome Epidemiology (HuGE) Navigator: SRRM4 (1 document)Export disorders for SRRM4 gene to outside databases
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Publicationsfor SRRM4 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for SRRM4 gene integrated from 9 sources : (articles sorted by number of sources associating them with SRRM4) Utopia : connect your pdf to the dynamic world of online information
Regulation of vertebrate nervous system alternative splicing and development by an SR-related protein. (PubMed id 19737518) 1 , 2 , 3 Calarco J.A.... Blencowe B.J. (2009) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 Ota T.... Sugano S. (2004) Novel tumor antigens identified by autologous antibody screening of childhood medulloblastoma cDNA libraries. (PubMed id 12800201) 1 , 2 Behrends U.... Mautner J. (2003) Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906) 1 , 2 Nagase T.... Ohara O. (2001) Comparison of an expanded ataxia interactome with pat ient medical records reveals a relationship between macular degeneration and at axia. (PubMed id 21078624) 1 Kahle J.J....Zoghbi H.Y. (2011) Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614) 1 Rose J.E....Uhl G.R. (2010) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 2 Gerhard D.S....Malek J. (2004) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 Strausberg R.L....Marra M.A. (2002) Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548) 1 Bonaldo M.F.... Soares M.B. (1996)
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External Searches for SRRM4 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing SRRM4 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing SRRM4 gene
(According to HUGE )
About This Section
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Specialized Databases showing SRRM4 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for SRRM4 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for SRRM4 gene: Search GeneIP for patents involving SRRM4 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor SRRM4 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies OriGene shRNA RFP for SRRM4 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for SRRM4 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SRRM4 Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for SRRM4 OriGene 3'-UTR Clone for SRRM4 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SRRM4 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SRRM4 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for SRRM4 OriGene Custom Protein Services for SRRM4 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SRRM4 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SRRM4 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat SRRM4 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat SRRM4 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SRRM4 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SRRM4
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SRRM4 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRRM4
Search ThermoFisher Antibodies for SRRM4
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SRRM4
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Aliases for SRRM4
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Disorders / Diseases for SRRM4
Domains / Families for SRRM4
Drugs / Compounds for SRRM4
Expression for SRRM4
Function for SRRM4
Genomic Views for SRRM4
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Orthologs for SRRM4
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Pathways / Interactions for SRRM4
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Transcripts for SRRM4
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