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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
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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
  • 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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Related articles in PubMed

  1. [Molecular cloning, characterization, chromosomal assignment, genomic organization and verification of SFRS12(SRrp508), a novel member of human SR protein superfamily and a human homolog of rat SRrp86]. Zhang DL, et al. Yi Chuan Xue Bao, 2002 May. PMID 12043562
  2. Analysis of SRrp86-regulated alternative splicing: control of c-Jun and IκBβ activity. Solis AS, et al. RNA Biol, 2010 Jul-Aug. PMID 20400856, Free PMC Article
  3. A unique glutamic acid-lysine (EK) domain acts as a splicing inhibitor. Li J, et al. J Biol Chem, 2002 Oct 18. PMID 12183448
  4. The rs74794265 SNP of the SREK1 Gene is Associated with COPD in Kashi, China. Abudureheman Z, et al. Int J Chron Obstruct Pulmon Dis, 2021. PMID 34556983, Free PMC Article
  5. 2-D PAGE-based comparison of proteasome inhibitor bortezomib in sensitive and resistant mantle cell lymphoma. Weinkauf M, et al. Electrophoresis, 2009 Mar. PMID 19309015

See all (77) citations in PubMed

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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