UniProtKB - A7MD48 (SRRM4_HUMAN)
Protein
Serine/arginine repetitive matrix protein 4
Gene
SRRM4
Organism
Homo sapiens (Human)
Status
Functioni
Splicing factor specifically required for neural cell differentiation. Acts in conjunction 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). Promotes alternative splicing of REST transcripts to produce REST isoform 3 (REST4) with greatly reduced repressive activity, thereby activating expression of REST targets in neural cells (PubMed:30684677). Plays an important role during embryonic development as well as in the proper functioning of the adult nervous system. Regulates alternative splicing events in genes with important neuronal functions (By similarity).By similarity1 Publication
GO - Molecular functioni
- identical protein binding Source: IntAct
- mRNA binding Source: UniProtKB
GO - Biological processi
- cell differentiation Source: UniProtKB
- mRNA processing Source: UniProtKB
- nervous system development Source: UniProtKB
- neuron maturation Source: GO_Central
- regulation of alternative mRNA splicing, via spliceosome Source: UniProtKB
- regulation of RNA splicing Source: UniProtKB
- RNA splicing Source: UniProtKB-KW
- sensory perception of sound Source: Ensembl
Keywordsi
Molecular function | RNA-binding |
Biological process | Differentiation, mRNA processing, mRNA splicing |
Enzyme and pathway databases
PathwayCommonsi | A7MD48 |
Names & Taxonomyi
Protein namesi | Recommended name: Serine/arginine repetitive matrix protein 4Alternative name(s): Medulloblastoma antigen MU-MB-2.76 Neural-specific serine/arginine repetitive splicing factor of 100 kDa Short name: Neural-specific SR-related protein of 100 kDa Short name: nSR100 |
Gene namesi | Name:SRRM4 Synonyms:KIAA1853 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000139767.8 |
HGNCi | HGNC:29389, SRRM4 |
MIMi | 613103, gene |
neXtProti | NX_A7MD48 |
Subcellular locationi
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 84530 |
OpenTargetsi | ENSG00000139767 |
PharmGKBi | PA165513415 |
Miscellaneous databases
Pharosi | A7MD48, Tbio |
Polymorphism and mutation databases
BioMutai | SRRM4 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000311911 | 1 – 611 | Serine/arginine repetitive matrix protein 4Add BLAST | 611 |
Post-translational modificationi
Phosphorylated.By similarity
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | A7MD48 |
PaxDbi | A7MD48 |
PeptideAtlasi | A7MD48 |
PRIDEi | A7MD48 |
ProteomicsDBi | 1812 |
PTM databases
iPTMneti | A7MD48 |
PhosphoSitePlusi | A7MD48 |
Expressioni
Tissue specificityi
Specifically expressed in neuronal cells (at protein level). Expressed in the cerebellum.2 Publications
Gene expression databases
Bgeei | ENSG00000139767, Expressed in cerebellar vermis and 107 other tissues |
ExpressionAtlasi | A7MD48, baseline and differential |
Genevisiblei | A7MD48, HS |
Organism-specific databases
HPAi | ENSG00000139767, Tissue enriched (brain) |
Interactioni
Binary interactionsi
Hide detailsA7MD48
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 124121, 32 interactors |
IntActi | A7MD48, 28 interactors |
STRINGi | 9606.ENSP00000267260 |
Miscellaneous databases
RNActi | A7MD48, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 109 – 171 | Lys-richAdd BLAST | 63 | |
Compositional biasi | 123 – 608 | Ser-richAdd BLAST | 486 | |
Compositional biasi | 442 – 598 | Arg-richAdd BLAST | 157 |
Sequence similaritiesi
Belongs to the nSR100 family.Curated
Phylogenomic databases
eggNOGi | ENOG502QSPB, Eukaryota |
GeneTreei | ENSGT00730000111247 |
HOGENOMi | CLU_032561_1_0_1 |
InParanoidi | A7MD48 |
OMAi | CKDSPEA |
OrthoDBi | 1260712at2759 |
PhylomeDBi | A7MD48 |
Family and domain databases
InterProi | View protein in InterPro IPR029360, SRRM_C |
Pfami | View protein in Pfam PF15230, SRRM_C, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
A7MD48-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MASVQQGEKQ LFEKFWRGTF KAVATPRPES IIVASITARK PLPRTEPQNN
60 70 80 90 100
PVVPAQDGPS EKLGQHLATE PLGTNSWERD KTCRELGATR GHSASHDKDL
110 120 130 140 150
TPPPSSRGKK KKKKSTRKKR RRSSSYSPSP VKKKKKKSSK KHKRRRSFSK
160 170 180 190 200
KRRHSSSSPK SKRRDEKRHK KQSRSRPRKS HRHRHHRCPS RSQSSESRPS
210 220 230 240 250
SCESRHRGRS PEEGQKSRRR HSRRCSKTLC KDSPEAQSSR PPSQPLQMLG
260 270 280 290 300
YLSARGVITG SGSAADLFTK TASPLTTSRG RSQEYDSGND TSSPPSTQTS
310 320 330 340 350
SARSRGQEKG SPSGGLSKSR ELNSGNTSDS GNSFTTSSPQ NKGAMLENLS
360 370 380 390 400
PTSRGRESRG FQSPCLECAE VKKSSLVPST ARSSPMKGCS RSSSYASTRS
410 420 430 440 450
SSHSSRSPNP RASPRYTQSR STSSEKRSYS RSPSYSSKSG KRSPPSRSSR
460 470 480 490 500
SRRSPSYSRY SPSRERDPKY SEKDSQQRER ERARRRRRSY SPMRKRRRDS
510 520 530 540 550
PSHLEARRIT SARKRPIPYY RPSPSSSGSL SSTSSWYSSS SSRSASRSYS
560 570 580 590 600
RSRSRSRSRR RSRTRTSSSS SSRSPSPGSR SRSRSRSRSR SRSRSQSRSY
610
SSADSYSSTR R
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A286YF08 | A0A286YF08_HUMAN | Serine/arginine repetitive matrix p... | SRRM4 | 66 | Annotation score: |
Sequence cautioni
The sequence BAB47482 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 553 | R → W in BAB47482 (PubMed:11347906).Curated | 1 | |
Sequence conflicti | 553 | R → W in AAI52472 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 553 | R → W in AAI67162 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 553 | R → W in AAI67163 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037339 | 243 | S → N. Corresponds to variant dbSNP:rs7297606Ensembl. | 1 | |
Natural variantiVAR_037340 | 406 | R → Q. Corresponds to variant dbSNP:rs2723880Ensembl. | 1 | |
Natural variantiVAR_037341 | 547 | R → S. Corresponds to variant dbSNP:rs2555273Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB058756 mRNA Translation: BAB47482.1 Different initiation. AK291361 mRNA Translation: BAF84050.1 AC087885 Genomic DNA No translation available. AC084361 Genomic DNA No translation available. BC152471 mRNA Translation: AAI52472.1 BC167162 mRNA Translation: AAI67162.1 BC167163 mRNA Translation: AAI67163.1 AY130006 mRNA Translation: AAN05090.1 |
CCDSi | CCDS44994.1 |
RefSeqi | NP_919262.2, NM_194286.3 |
Genome annotation databases
Ensembli | ENST00000267260; ENSP00000267260; ENSG00000139767 |
GeneIDi | 84530 |
KEGGi | hsa:84530 |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB058756 mRNA Translation: BAB47482.1 Different initiation. AK291361 mRNA Translation: BAF84050.1 AC087885 Genomic DNA No translation available. AC084361 Genomic DNA No translation available. BC152471 mRNA Translation: AAI52472.1 BC167162 mRNA Translation: AAI67162.1 BC167163 mRNA Translation: AAI67163.1 AY130006 mRNA Translation: AAN05090.1 |
CCDSi | CCDS44994.1 |
RefSeqi | NP_919262.2, NM_194286.3 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 124121, 32 interactors |
IntActi | A7MD48, 28 interactors |
STRINGi | 9606.ENSP00000267260 |
PTM databases
iPTMneti | A7MD48 |
PhosphoSitePlusi | A7MD48 |
Polymorphism and mutation databases
BioMutai | SRRM4 |
Proteomic databases
EPDi | A7MD48 |
PaxDbi | A7MD48 |
PeptideAtlasi | A7MD48 |
PRIDEi | A7MD48 |
ProteomicsDBi | 1812 |
Protocols and materials databases
Antibodypediai | 56195, 51 antibodies |
DNASUi | 84530 |
Genome annotation databases
Ensembli | ENST00000267260; ENSP00000267260; ENSG00000139767 |
GeneIDi | 84530 |
KEGGi | hsa:84530 |
Organism-specific databases
CTDi | 84530 |
DisGeNETi | 84530 |
EuPathDBi | HostDB:ENSG00000139767.8 |
GeneCardsi | SRRM4 |
HGNCi | HGNC:29389, SRRM4 |
HPAi | ENSG00000139767, Tissue enriched (brain) |
MIMi | 613103, gene |
neXtProti | NX_A7MD48 |
OpenTargetsi | ENSG00000139767 |
PharmGKBi | PA165513415 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QSPB, Eukaryota |
GeneTreei | ENSGT00730000111247 |
HOGENOMi | CLU_032561_1_0_1 |
InParanoidi | A7MD48 |
OMAi | CKDSPEA |
OrthoDBi | 1260712at2759 |
PhylomeDBi | A7MD48 |
Enzyme and pathway databases
PathwayCommonsi | A7MD48 |
Miscellaneous databases
BioGRID-ORCSi | 84530, 27 hits in 840 CRISPR screens |
ChiTaRSi | SRRM4, human |
GenomeRNAii | 84530 |
Pharosi | A7MD48, Tbio |
PROi | PR:A7MD48 |
RNActi | A7MD48, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000139767, Expressed in cerebellar vermis and 107 other tissues |
ExpressionAtlasi | A7MD48, baseline and differential |
Genevisiblei | A7MD48, HS |
Family and domain databases
InterProi | View protein in InterPro IPR029360, SRRM_C |
Pfami | View protein in Pfam PF15230, SRRM_C, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SRRM4_HUMAN | |
Accessioni | A7MD48Primary (citable) accession number: A7MD48 Secondary accession number(s): A8K5P6 Q96JH4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 4, 2007 |
Last sequence update: | December 15, 2009 | |
Last modified: | December 2, 2020 | |
This is version 95 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations