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SFSWAP splicing factor SWAP [ Homo sapiens (human) ]

Gene ID: 6433, updated on 12-Oct-2019

Summary

Official Symbol
SFSWAPprovided by HGNC
Official Full Name
splicing factor SWAPprovided by HGNC
Primary source
HGNC:HGNC:10790
See related
Ensembl:ENSG00000061936 MIM:601945
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
SWAP; SFRS8
Summary
This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]
Expression
Ubiquitous expression in bone marrow (RPKM 11.1), spleen (RPKM 9.4) and 25 other tissues See more
Orthologs

Genomic context

See SFSWAP in Genome Data Viewer
Location:
12q24.33
Exon count:
20
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (131711088..131799738)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (132195632..132284283)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S6 pseudogene 21 Neighboring gene uncharacterized LOC105370087 Neighboring gene RNA, 5S ribosomal pseudogene 378 Neighboring gene RNA, U6 small nuclear 1017, pseudogene

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

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

  • MGC167082

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
alternative mRNA splicing, via spliceosome IEA
Inferred from Electronic Annotation
more info
 
mRNA 5'-splice site recognition IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of mRNA splicing, via spliceosome ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
splicing factor, suppressor of white-apricot homolog
Names
splicing factor SWAP homolog
splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)
splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)
splicing factor, suppressor of white-apricot family
suppressor of white apricot protein homolog

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_001261411.2NP_001248340.1  splicing factor, suppressor of white-apricot homolog isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC117500, AC131009
    Consensus CDS
    CCDS58290.1
    UniProtKB/Swiss-Prot
    Q12872
    Related
    ENSP00000437738.1, ENST00000541286.5
    Conserved Domains (3) summary
    smart00648
    Location:209262
    SWAP; Suppressor-of-White-APricot splicing regulator
    pfam01346
    Location:637677
    FKBP_N; Domain amino terminal to FKBP-type peptidyl-prolyl isomerase
    pfam09750
    Location:35155
    DRY_EERY; Alternative splicing regulator
  2. NM_004592.4NP_004583.2  splicing factor, suppressor of white-apricot homolog isoform 2

    See identical proteins and their annotated locations for NP_004583.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC117500, AC131009
    Consensus CDS
    CCDS9273.1
    UniProtKB/Swiss-Prot
    Q12872
    UniProtKB/TrEMBL
    Q8IV81
    Related
    ENSP00000261674.4, ENST00000261674.8
    Conserved Domains (3) summary
    smart00648
    Location:209262
    SWAP; Suppressor-of-White-APricot splicing regulator
    pfam01346
    Location:637677
    FKBP_N; Domain amino terminal to FKBP-type peptidyl-prolyl isomerase
    pfam09750
    Location:35155
    DRY_EERY; Alternative splicing regulator

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_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    131711088..131799738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538654.2XP_011536956.1  splicing factor, suppressor of white-apricot homolog isoform X2

    Conserved Domains (2) summary
    smart00648
    Location:83136
    SWAP; Suppressor-of-White-APricot splicing regulator
    cl00368
    Location:511592
    Ribosomal_S16; Ribosomal protein S16
  2. XM_024449125.1XP_024304893.1  splicing factor, suppressor of white-apricot homolog isoform X2

    Conserved Domains (2) summary
    smart00648
    Location:83136
    SWAP; Suppressor-of-White-APricot splicing regulator
    cl00368
    Location:511592
    Ribosomal_S16; Ribosomal protein S16
  3. XM_011538653.1XP_011536955.1  splicing factor, suppressor of white-apricot homolog isoform X1

    Conserved Domains (3) summary
    PRK12495
    Location:504618
    PRK12495; hypothetical protein; Provisional
    smart00648
    Location:209262
    SWAP; Suppressor-of-White-APricot splicing regulator
    pfam09750
    Location:35155
    DRY_EERY; Alternative splicing regulator
  4. XM_017019798.1XP_016875287.1  splicing factor, suppressor of white-apricot homolog isoform X3

  5. XM_024449126.1XP_024304894.1  splicing factor, suppressor of white-apricot homolog isoform X5

    Conserved Domains (1) summary
    smart00648
    Location:83136
    SWAP; Suppressor-of-White-APricot splicing regulator
  6. XM_011538655.2XP_011536957.1  splicing factor, suppressor of white-apricot homolog isoform X4

    Conserved Domains (3) summary
    smart00648
    Location:209262
    SWAP; Suppressor-of-White-APricot splicing regulator
    pfam01346
    Location:637677
    FKBP_N; Domain amino terminal to FKBP-type peptidyl-prolyl isomerase
    pfam09750
    Location:35155
    DRY_EERY; Alternative splicing regulator
  7. XM_017019799.1XP_016875288.1  splicing factor, suppressor of white-apricot homolog isoform X6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152235.1: Suppressed sequence

    Description
    NM_152235.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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