SFSWAP - splicing factor SWAP Gene

Also Known as SWAP; SFRS8

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 6433

About SFSWAP

Cytogenetic location: 12q24.33 Genomic coordinates (GRCh38): 12:131,711,090-131,799,738 (from NCBI)

This gene has 11 transcripts (splice variants), 209 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 11.1), spleen (RPKM 9.4) and 25 other tissues.

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]

SFSWAP Products (2)

mRNA Protein Name
NM_001261411.2 NP_001248340.1 splicing factor, suppressor of white-apricot homolog isoform 1
NM_004592.4 NP_004583.2 splicing factor, suppressor of white-apricot homolog isoform 2

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
26420826 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SFSWAP Protein Structure

DRY_EERY

DRY_EERY: Alternative splicing regulator (34 - 157)

Surp

Surp: Surp module (209 - 259)

Surp

Surp: Surp module (458 - 504)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 951 a.a.
Protein Preferred Names Protein Names

splicing factor, suppressor of white-apricot homolog

  • splicing factor SWAP homolog

SFSWAP Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
SFSWAP Q12872 CFAP20 Homo sapiens Q9Y6A4
Anti Tag CoIP
33961781
Intra
SFSWAP Q12872 SF1 Homo sapiens Q15637
Pull Down
26420826
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
Deafness, Autosomal Dominant 41

  • DFNA41

  • Autosomal Dominant Nonsyndromic Deafness 41

  • Autosomal Dominant Deafness 41

  • Deafness, Autosomal Dominant, 41

  • Deafness, Autosomal Dominant, Type 41
Pulmonary Subvalvular Stenosis

  • Pulmonary Infundibular Stenosis

  • Congenital Infundibular Stenosis

  • Infundibular Pulmonic Stenosis

  • Infundibular Pulmonic Stenosis, Congenital

  • Subvalvular Pulmonic Stenosis
Meninges Sarcoma

  • Meningeal Sarcoma

  • Sarcoma Of Meninges

  • Meningothelial Sarcoma

  • Leptomeningeal Sarcoma
Deafness, Autosomal Dominant 27

  • DFNA27

  • Autosomal Dominant Nonsyndromic Deafness 27

  • Autosomal Dominant Deafness 27

  • Deafness, Autosomal Dominant, 27
Supraglottis Neoplasm

  • Neoplasm Of Supraglottis

  • Supraglottic Tumor
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS12778 SFSWAP Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Macaca mulatta SFSWAP VGNC VGNC:77188
Mus musculus SFSWAP MGD MGI:101760
Bos taurus SFSWAP VGNC VGNC:34524
Rattus norvegicus SFSWAP RGD RGD:1305004
Felis catus SFSWAP VGNC VGNC:65065
Canis familiaris SFSWAP VGNC VGNC:46084
Others SFSWAP NCBI