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

    Gene ID: 140890, updated on 28-Oct-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001077199.3NP_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:178263
      RRM2_SREK1; RNA recognition motif 2 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins
      cd12519
      Location:2099
      RRM1_SREK1; RNA recognition motif 1 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins
    2. NM_001270492.2NP_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:62147
      RRM2_SREK1; RNA recognition motif 2 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins
    3. NM_001323527.2NP_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:62147
      RRM2_SREK1; RNA recognition motif 2 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins
    4. NM_001323529.2NP_001310458.1  splicing regulatory glutamine/lysine-rich protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC008772, AC025442
      Conserved Domains (2) summary
      cd12260
      Location:178263
      RRM2_SREK1; RNA recognition motif 2 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins
      cd12519
      Location:2099
      RRM1_SREK1; RNA recognition motif 1 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins
    5. NM_001323533.2NP_001310462.1  splicing regulatory glutamine/lysine-rich protein 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC008772, AC025442
      Conserved Domains (3) summary
      COG0724
      Location:154259
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12260
      Location:178263
      RRM2_SREK1; RNA recognition motif 2 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins
      cd12519
      Location:2099
      RRM1_SREK1; RNA recognition motif 1 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins
    6. NM_001323534.2NP_001310463.1  splicing regulatory glutamine/lysine-rich protein 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC008772, AC025442
    7. NM_001323535.2NP_001310464.1  splicing regulatory glutamine/lysine-rich protein 1 isoform h

      Status: REVIEWED

      Source sequence(s)
      AC008772, AC025442
    8. NM_139168.4NP_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:62147
      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_047416741.1XP_047272697.1  splicing regulatory glutamine/lysine-rich protein 1 isoform X3

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

      UniProtKB/Swiss-Prot
      A4FTW3, Q2M1J0, Q86X37, Q8WXA9
    3. XM_047416740.1XP_047272696.1  splicing regulatory glutamine/lysine-rich protein 1 isoform X2

    4. XM_011543171.4XP_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:62147
      RRM2_SREK1; RNA recognition motif 2 in splicing regulatory glutamine/lysine-rich protein 1 (SREK1) and similar proteins
    5. XM_047416739.1XP_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_054351663.1XP_054207638.1  splicing regulatory glutamine/lysine-rich protein 1 isoform X3

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

      UniProtKB/Swiss-Prot
      A4FTW3, Q2M1J0, Q86X37, Q8WXA9
    3. XM_054351662.1XP_054207637.1  splicing regulatory glutamine/lysine-rich protein 1 isoform X2

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

      UniProtKB/Swiss-Prot
      A4FTW3, Q2M1J0, Q86X37, Q8WXA9
    5. XM_054351661.1XP_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.