2. Gene
  3. SF1 - splicing factor 1 Gene

SF1 - splicing factor 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as BBP; MBBP; ZFM1; ZNF162; D11S636; ZCCHC25

Gene ID: 7536 | Gene type: protein coding

About SF1

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,764,606-64,778,542 (from NCBI)

This gene has 21 transcripts (splice variants), 183 orthologues and 4 paralogues. Ubiquitous expression in bone marrow (RPKM 62.1), testis (RPKM 36.4) and 25 other tissues.

Summary

This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence at the 3' splice site, together with the large subunit of U2 auxiliary factor (U2AF), and is required for the early stages of spliceosome assembly. It also plays a role in nuclear pre-mRNA retention and transcriptional repression. The encoded protein contains an N-terminal U2AF ligand motif, a central hnRNP K homology motif and quaking 2 region which bind a key branch-site adenosine within the branch point sequence, a zinc knuckles domain, and a C-terminal proline-rich domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

SF1 Products(12)

mRNA Protein Name
NM_001178030.2 NP_001171501.1 splicing factor 1 isoform 6
NM_001178031.3 NP_001171502.1 splicing factor 1 isoform 5
NM_001346363.2 NP_001333292.1 splicing factor 1 isoform 9
NM_001346364.2 NP_001333293.1 splicing factor 1 isoform 10
NM_001346409.2 NP_001333338.1 splicing factor 1 isoform 7
NM_001346410.2 NP_001333339.1 splicing factor 1 isoform 8
NM_001378956.1 NP_001365885.1 splicing factor 1 isoform 11
NM_001378957.1 NP_001365886.1 splicing factor 1 isoform 12
NM_004630.4 NP_004621.2 splicing factor 1 isoform 1
NM_201995.3 NP_973724.1 splicing factor 1 isoform 2
NM_201997.3 NP_973726.2 splicing factor 1 isoform 4
NM_201998.3 NP_973727.1 splicing factor 1 isoform 3

SF1 Protein Structure

KH_1

KH_1: KH domain (151 - 222)

zf-CCHC

zf-CCHC: Zinc knuckle (278 - 293)

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  • 639 a.a.
Protein Preferred Names Protein Names

splicing factor 1

mammalian branch point-binding protein

Related Diseases

Diseases Alias
Multiple Endocrine Neoplasia, Type I

Multiple Endocrine Neoplasia Type 1

MEN1

Wermer Syndrome

Multiple Endocrine Neoplasia 1

Multiple Endocrine Neoplasia, Type 1

Men I

Endocrine Adenomatosis, Multiple

Mea I

Men Type I

Wermer'S Syndrome

Men1 Syndrome

Multiple Endocrine Adenomatosis

Endocrine Adenomatosis Multiple

Men 1

Familial Multiple Endocrine Neoplasia Type I

Neoplasia, Endocrine, Multiple, Type 1

Multiple Endocrine Neoplasia
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
Bioactive Molecules (13)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-115613 ML-180 99.82% Unkown
HY-131445B RR-RJW100 98.22% Unkown
HY-128207 SID7970631 98.10% Unkown
HY-131445A SS-RJW100 99.91% Unkown
HY-107404 SID 7969543 Inhibitor 98.29% Unkown
HY-129359 PDP-Pfp 98.66% Unkown
HY-131445 RJW100 Activator / Unkown
HY-129372 PDdB-Pfp / Unkown
HY-148259 SF-1 antagonist-1 Antagonist / Unkown
HY-153736 NSC 194308 / Unkown
HY-RS12756 SF1 Human Pre-designed siRNA Set A / Unkown
HY-RS14606 TM4SF1 Human Pre-designed siRNA Set A / Unkown
HY-155168 Iso-RJW100 / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus SF1 VGNC VGNC:65051
Macaca mulatta SF1 VGNC VGNC:77225
Canis familiaris SF1 VGNC VGNC:46066
Mus musculus SF1 MGD MGI:1095403
Rattus norvegicus SF1 RGD RGD:620645
Bos taurus SF1 VGNC VGNC:34505
Macaca fascicularis SF1 NCBI
Susscrofa domestica SF1 NCBI
Leporidae SF1 NCBI
Others SF1 NCBI