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    SREK1 splicing regulatory glutamic acid and lysine rich protein 1 [ Homo sapiens (human) ]

    Gene ID: 140890, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SREK1provided by HGNC
    Official Full Name
    splicing regulatory glutamic acid and lysine rich protein 1provided by HGNC
    Primary source
    HGNC:HGNC:17882
    See related
    Ensembl:ENSG00000153914 MIM:609268; AllianceGenome:HGNC:17882
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SFRS12; SRrp86; SRrp508
    Summary
    This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
    Expression
    Ubiquitous expression in bone marrow (RPKM 19.8), thyroid (RPKM 10.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SREK1 in Genome Data Viewer
    Location:
    5q12.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (66144300..66183615)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (66965512..67004823)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (65440128..65479443)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene erbb2 interacting protein Neighboring gene small nucleolar RNA SNORA76 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22613 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:65280169-65280787 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:65283311-65283508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22614 Neighboring gene uncharacterized LOC124900987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22617 Neighboring gene uncharacterized LOC401191 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:65504484-65505683 Neighboring gene long intergenic non-protein coding RNA 2065 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:65518471-65518972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:65518973-65519472 Neighboring gene U2 spliceosomal RNA

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The aberrant upregulation of exon 10-inclusive SREK1 through SRSF10 acts as an oncogenic driver in human hepatocellular carcinoma.
      Title: The aberrant upregulation of exon 10-inclusive SREK1 through SRSF10 acts as an oncogenic driver in human hepatocellular carcinoma.
    2. The rs74794265 SNP of the SREK1 Gene is Associated with COPD in Kashi, China.
      Title: The rs74794265 SNP of the SREK1 Gene is Associated with COPD in Kashi, China.
    3. Pathogenic SREK1 decrease in Huntington's disease lowers TAF1 mimicking X-linked dystonia parkinsonism.
      Title: Pathogenic SREK1 decrease in Huntington's disease lowers TAF1 mimicking X-linked dystonia parkinsonism.
    4. From among the 500 splicing events exhibiting altered splicing under these conditions, the splicing of c-Jun and IkappaBbeta were validated as being regulated by SRrp86 resulting in altered regulation of their downstream targets.
      Title: Analysis of SRrp86-regulated alternative splicing: control of c-Jun and IκBβ activity.
    5. the unique glutamic acid-lysine domain of SRrp86 plays a modulatory role controlling serine-arginine domain function
      Title: A unique glutamic acid-lysine (EK) domain acts as a splicing inhibitor.
    6. SRrp86 can activate SRp20 and repress SC35 in a dose-dependent manner both in vitro and in vivo
      Title: Regulation of alternative splicing by SRrp86 through coactivation and repression of specific SR proteins.
    7. p18SRP is a lysine-rich zinc finger domain-containing protein that interacts with the serine-arginine-rich splicing regulatory protein SRrp86; it is downregulated in brain of Alzheimer disease patients.
      Title: The splicing regulatory protein p18SRP is down-regulated in Alzheimer's disease brain.
    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

    • MGC133045, DKFZp564B176

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    part_of spliceosomal complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    splicing regulatory glutamine/lysine-rich protein 1
    Names
    serine-arginine-rich splicing regulatory protein 508
    serine/arginine-rich-splicing regulatory protein 86
    splicing factor, arginine/serine-rich 12
    splicing regulatory glutamic acid/lysine-rich protein 1

    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_001077199.3 → NP_001070667.1  splicing regulatory glutamine/lysine-rich protein 1 isoform a

      See identical proteins and their annotated locations for NP_001070667.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC008772, BC047322, BC112343, CD706234
      Consensus CDS
      CCDS43323.1
      UniProtKB/Swiss-Prot
      Q8WXA9
      Related
      ENSP00000334538.6, ENST00000334121.11
      Conserved Domains (2) summary
      cd12260
      Location:178 → 263
      RRM2_SREK1; RNA recognition motif 2 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins
      cd12519
      Location:20 → 99
      RRM1_SREK1; RNA recognition motif 1 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins

    2. NM_001270492.2 → NP_001257421.1  splicing regulatory glutamine/lysine-rich protein 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the 5' UTR and coding region, and uses a downstream, in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AC008772, AC025442, AK308287, BC112343, CD706234
      UniProtKB/Swiss-Prot
      Q8WXA9
      Conserved Domains (1) summary
      cd12260
      Location:62 → 147
      RRM2_SREK1; RNA recognition motif 2 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins

    3. NM_001323527.2 → NP_001310456.1  splicing regulatory glutamine/lysine-rich protein 1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC008772, AC025442
      Consensus CDS
      CCDS3991.1
      UniProtKB/Swiss-Prot
      A4FTW3, Q2M1J0, Q86X37, Q8WXA9
      Conserved Domains (1) summary
      cd12260
      Location:62 → 147
      RRM2_SREK1; RNA recognition motif 2 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins

    4. NM_001323529.2 → NP_001310458.1  splicing regulatory glutamine/lysine-rich protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC008772, AC025442
      Conserved Domains (2) summary
      cd12260
      Location:178 → 263
      RRM2_SREK1; RNA recognition motif 2 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins
      cd12519
      Location:20 → 99
      RRM1_SREK1; RNA recognition motif 1 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins

    5. NM_001323533.2 → NP_001310462.1  splicing regulatory glutamine/lysine-rich protein 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC008772, AC025442
      Conserved Domains (3) summary
      COG0724
      Location:154 → 259
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12260
      Location:178 → 263
      RRM2_SREK1; RNA recognition motif 2 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins
      cd12519
      Location:20 → 99
      RRM1_SREK1; RNA recognition motif 1 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins

    6. NM_001323534.2 → NP_001310463.1  splicing regulatory glutamine/lysine-rich protein 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC008772, AC025442

    7. NM_001323535.2 → NP_001310464.1  splicing regulatory glutamine/lysine-rich protein 1 isoform h

      Status: REVIEWED

      Source sequence(s)
      AC008772, AC025442

    8. NM_139168.4 → NP_631907.1  splicing regulatory glutamine/lysine-rich protein 1 isoform b

      See identical proteins and their annotated locations for NP_631907.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses a downstream, in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC008772, BC067770, BC112343
      Consensus CDS
      CCDS3991.1
      UniProtKB/Swiss-Prot
      A4FTW3, Q2M1J0, Q86X37, Q8WXA9
      Related
      ENSP00000370305.3, ENST00000380918.7
      Conserved Domains (1) summary
      cd12260
      Location:62 → 147
      RRM2_SREK1; RNA recognition motif 2 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      66144300..66183615
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416741.1 → XP_047272697.1  splicing regulatory glutamine/lysine-rich protein 1 isoform X3

    2. XM_047416738.1 → XP_047272694.1  splicing regulatory glutamine/lysine-rich protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A4FTW3, Q2M1J0, Q86X37, Q8WXA9

    3. XM_047416740.1 → XP_047272696.1  splicing regulatory glutamine/lysine-rich protein 1 isoform X2

    4. XM_011543171.4 → XP_011541473.1  splicing regulatory glutamine/lysine-rich protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011541473.1

      UniProtKB/Swiss-Prot
      A4FTW3, Q2M1J0, Q86X37, Q8WXA9
      Conserved Domains (1) summary
      cd12260
      Location:62 → 147
      RRM2_SREK1; RNA recognition motif 2 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins

    5. XM_047416739.1 → XP_047272695.1  splicing regulatory glutamine/lysine-rich protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A4FTW3, Q2M1J0, Q86X37, Q8WXA9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      66965512..67004823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351663.1 → XP_054207638.1  splicing regulatory glutamine/lysine-rich protein 1 isoform X3

    2. XM_054351659.1 → XP_054207634.1  splicing regulatory glutamine/lysine-rich protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A4FTW3, Q2M1J0, Q86X37, Q8WXA9

    3. XM_054351662.1 → XP_054207637.1  splicing regulatory glutamine/lysine-rich protein 1 isoform X2

    4. XM_054351660.1 → XP_054207635.1  splicing regulatory glutamine/lysine-rich protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A4FTW3, Q2M1J0, Q86X37, Q8WXA9

    5. XM_054351661.1 → XP_054207636.1  splicing regulatory glutamine/lysine-rich protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A4FTW3, Q2M1J0, Q86X37, Q8WXA9

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001270493.1: Suppressed sequence

      Description
      NM_001270493.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WXA9.1 GenPept UniProtKB/Swiss-Prot:Q8WXA9

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

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