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

Gene ID: 140890, updated on 3-Nov-2019

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
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

Genomic context

See SREK1 in Genome Data Viewer
Location:
5q12.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (66144300..66183616)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (65440046..65479444)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene PRAME family member 17 pseudogene Neighboring gene neurolysin Neighboring gene LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene Neighboring gene erbb2 interacting protein Neighboring gene long intergenic non-protein coding RNA 2065 Neighboring gene uncharacterized LOC105379004

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from BioSystems

  • mRNA Processing, organism-specific biosystem (from WikiPathways)
    mRNA Processing, organism-specific biosystemThis process describes the conversion of precursor messenger RNA into mature messenger RNA (mRNA). The pre-mRNA molecule undergoes three main modifications. These modifications are 5' capping, 3' po...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC133045, DKFZp564B176

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA splicing IEA
Inferred from Electronic Annotation
more info
 
mRNA processing IEA
Inferred from Electronic Annotation
more info
 
regulation of alternative mRNA splicing, via spliceosome IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
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)

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
    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_139168.3NP_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
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    66144300..66183616
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009055.2XP_016864544.1  splicing regulatory glutamine/lysine-rich protein 1 isoform X2

  2. XM_017009056.1XP_016864545.1  splicing regulatory glutamine/lysine-rich protein 1 isoform X3

  3. XM_011543171.3XP_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
    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

RNA

  1. XR_948236.3 RNA Sequence

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.
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