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    SRRM3 serine/arginine repetitive matrix 3 [ Homo sapiens (human) ]

    Gene ID: 222183, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SRRM3provided by HGNC
    Official Full Name
    serine/arginine repetitive matrix 3provided by HGNC
    Primary source
    HGNC:HGNC:26729
    See related
    Ensembl:ENSG00000177679 AllianceGenome:HGNC:26729
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable mRNA binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in adrenal (RPKM 3.7), brain (RPKM 3.0) and 17 other tissues See more
    Orthologs
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    Genomic context

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    See SRRM3 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (76201896..76287287)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (77489369..77574760)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (75831214..75916604)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901674 Neighboring gene GTF2I repeat domain containing 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75814843-75815508 Neighboring gene Sharpr-MPRA regulatory region 5015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75826515-75827312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75852108-75852608 Neighboring gene NANOG hESC enhancer GRCh37_chr7:75853947-75854451 Neighboring gene MPRA-validated peak6610 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26193 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18307 Neighboring gene uncharacterized LOC124901679 Neighboring gene MPRA-validated peak6611 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr7:75884084-75884282 Neighboring gene Sharpr-MPRA regulatory region 1121 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75890756-75891279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75896022-75896767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75919557-75920072 Neighboring gene CRISPRi-validated cis-regulatory element chr7.2946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26197 Neighboring gene Sharpr-MPRA regulatory region 11180 Neighboring gene Sharpr-MPRA regulatory region 14050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75946434-75947430 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75947431-75948427 Neighboring gene heat shock protein family B (small) member 1 Neighboring gene fibroblast proliferation associated lncRNA

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. RNA Splicing Factors SRRM3 and SRRM4 Distinguish Molecular Phenotypes of Castration-Resistant Neuroendocrine Prostate Cancer. Labrecque MP, et al. Cancer Res, 2021 Sep 15. PMID 34312180, Free PMC Article
    2. Specialization of the photoreceptor transcriptome by Srrm3-dependent microexons is required for outer segment maintenance and vision. Ciampi L, et al. Proc Natl Acad Sci U S A, 2022 Jul 19. PMID 35858306, Free PMC Article
    3. Combinatorial CRISPR screen identifies fitness effects of gene paralogues. Thompson NA, et al. Nat Commun, 2021 Feb 26. PMID 33637726, Free PMC Article
    4. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
    5. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Specialization of the photoreceptor transcriptome by Srrm3-dependent microexons is required for outer segment maintenance and vision.
      Title: Specialization of the photoreceptor transcriptome by Srrm3-dependent microexons is required for outer segment maintenance and vision.
    2. RNA Splicing Factors SRRM3 and SRRM4 Distinguish Molecular Phenotypes of Castration-Resistant Neuroendocrine Prostate Cancer.
      Title: RNA Splicing Factors SRRM3 and SRRM4 Distinguish Molecular Phenotypes of Castration-Resistant Neuroendocrine Prostate Cancer.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35271, FLJ37078

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    serine/arginine repetitive matrix protein 3
    Names
    SRRM2-like protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001110199.3 → NP_001103669.1  serine/arginine repetitive matrix protein 3 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AC005077, AI815474, AK092590, BC029292, BE466083, CA502814
      UniProtKB/TrEMBL
      A0A087WXA3
      Related
      ENSP00000480851.1, ENST00000611745.2
      Conserved Domains (2) summary
      pfam08312
      Location:56 → 98
      cwf21; cwf21 domain
      pfam15230
      Location:531 → 584
      SRRM_C; Serine/arginine repetitive matrix protein C-terminus

    2. NM_001291831.2 → NP_001278760.1  serine/arginine repetitive matrix protein 3 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC005077, AI815474, BC029292, BC071856
      Conserved Domains (2) summary
      pfam08312
      Location:56 → 98
      cwf21; cwf21 domain
      pfam15230
      Location:531 → 577
      SRRM_C; Serine/arginine repetitive matrix protein C-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      76201896..76287287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      77489369..77574760
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001039212.1: Suppressed sequence

      Description
      NM_001039212.1: This RefSeq was permanently suppressed because it is primarily UTR sequence, and it contains the wrong CDS.

    2. NM_153043.3: Suppressed sequence

      Description
      NM_153043.3: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NNA2.4 GenPept UniProtKB/Swiss-Prot:A6NNA2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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