SF1 - splicing factor 1 Gene

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	22365833	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10449420	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of U2AF complex	IPI IPI: Inferred from physical interaction	23273425	GOA
part of spliceosomal complex	IDA IDA: Inferred from direct assay	9731529	GOA
part of spliceosomal complex	IPI IPI: Inferred from physical interaction	23273425	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

SF1 Protein Structure

KH_1

zf-CCHC

0
100
200
300
400
500
600
639 a.a.

Protein Preferred Names

Protein Names

splicing factor 1

mammalian branch point-binding protein

SF1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SF1	Q15637	HNRNPAB	Homo sapiens	Q99729	Y2H Fragment Pooling	26420826
Intra	SF1	Q15637	SF3A1	Homo sapiens	Q15459	Anti Tag CoIP	26420826
Intra	SF1	Q15637	SF3A1	Homo sapiens	Q15459	Anti Bait CoIP	26420826
Intra	SF1	Q15637	ABL2	Homo sapiens	P42684	Y2H Fragment Pooling	26420826
Cross	SF1	Q15637	Khdc4	Mus musculus	Q3TCX3	Y2H Fragment Pooling	26420826
Intra	SF1	Q15637	UHMK1	Homo sapiens	Q8TAS1	Y2H Fragment Pooling	26420826
Intra	SF1	Q15637	MKRN3	Homo sapiens	Q13064	Y2H Array	25416956
Cross	SF1	Q15637	Cherp	Mus musculus	Q8CGZ0	Y2H Fragment Pooling	26420826
Intra	SF1	Q15637	SF3A2	Homo sapiens	Q15428	Anti Bait CoIP	26420826
Intra	SF1	Q15637	CHERP	Homo sapiens	Q8IWX8	Y2H Fragment Pooling	26420826
Intra	SF1	Q15637	CHERP	Homo sapiens	Q8IWX8	Anti Bait CoIP	26420826
Intra	SF1	Q15637	CEP104	Homo sapiens	O60308	Y2H Fragment Pooling	26420826
Intra	SF1	Q15637	HNRNPDL	Homo sapiens	O14979	Y2H Fragment Pooling	26420826
Cross	SF1	Q15637	Kpna2	Mus musculus	P52293	Y2H Fragment Pooling	26420826
Intra	SF1	Q15637	PSMA3	Homo sapiens	P25788	Y2H Array	25416956
Intra	SF1	Q15637	PSMA3	Homo sapiens	P25788	Validated Y2H	25416956
Intra	SF1	Q15637	KPNA2	Homo sapiens	P52292	Y2H Fragment Pooling	26420826
Intra	SF1	Q15637	KPNA1	Homo sapiens	P52294	Y2H Fragment Pooling	26420826
Intra	SF1	Q15637	KPNA6	Homo sapiens	O60684	Y2H Fragment Pooling	26420826
Intra	SF1	Q15637	KRTAP26-1	Homo sapiens	Q6PEX3	Y2H Prey Pooling	25416956
Intra	SF1	Q15637	KRTAP26-1	Homo sapiens	Q6PEX3	Validated Y2H	25416956
Intra	SF1	Q15637	PRPF40A	Homo sapiens	O75400	Anti Bait CoIP	26420826
Intra	SF1	Q15637	CIAO1	Homo sapiens	O76071	Y2H Array	25416956
Intra	SF1	Q15637	RBM17	Homo sapiens	Q96I25	Y2H	22365833
Intra	SF1	Q15637	RBM17	Homo sapiens	Q96I25	Anti Bait CoIP	26420826
Intra	SF1	Q15637	RBM17	Homo sapiens	Q96I25	Y2H Fragment Pooling	26420826
Intra	SF1	Q15637	U2AF2	Homo sapiens	P26368	NMR	12718882
Intra	SF1	Q15637	U2AF2	Homo sapiens	P26368	Anti Tag CoIP	26420826
Intra	SF1	Q15637	U2AF2	Homo sapiens	P26368	Y2H Pooling	16189514
Intra	SF1	Q15637	U2AF2	Homo sapiens	P26368	Pull Down	23273425
Intra	SF1	Q15637	U2AF2	Homo sapiens	P26368	GMS	23273425
Intra	SF1	Q15637	U2AF2	Homo sapiens	P26368	Y2H	22365833
Intra	SF1	Q15637	U2AF2	Homo sapiens	P26368	Pull Down	12718882
Intra	SF1	Q15637	U2AF2	Homo sapiens	P26368	ITC	23273425
Intra	SF1	Q15637	U2AF2	Homo sapiens	P26368	Anti Bait CoIP	26420826
Intra	SF1	Q15637	U2AF2	Homo sapiens	P26368	X-Ray Diffraction	23273425
Intra	SF1	Q15637	U2AF2	Homo sapiens	P26368	DLS	23273425
Intra	SF1	Q15637	U2AF2	Homo sapiens	P26368	NMR	23273425
Intra	SF1	Q15637	U2AF2	Homo sapiens	P26368	SAXS	23273425
Intra	SF1	Q15637	DDX17	Homo sapiens	Q92841	Y2H Fragment Pooling	26420826
Intra	SF1	Q15637	DDX17	Homo sapiens	Q92841	Y2H	22365833
Intra	SF1	Q15637	DDX17	Homo sapiens	Q92841	Y2H Pooling	16189514
Intra	SF1	Q15637	TRIM69	Homo sapiens	Q86WT6	Y2H Array	25416956
Intra	SF1	Q15637	TRIM69	Homo sapiens	Q86WT6	Y2H Prey Pooling	25416956
Intra	SF1	Q15637	TRIM69	Homo sapiens	Q86WT6	Validated Y2H	25416956
Intra	SF1	Q15637	KHDC4	Homo sapiens	Q7Z7F0	Y2H Fragment Pooling	26420826
Cross	SF1	Q15637	Cltc	Mus musculus	Q68FD5	Y2H Fragment Pooling	26420826
Intra	SF1	Q15637	PRMT2	Homo sapiens	P55345	Y2H Fragment Pooling	26420826
Intra	SF1	Q15637	FAM168A	Homo sapiens	Q92567	Y2H Array	31515488
Cross	SF1	Q15637	U2af2	Mus musculus	P26369	Y2H Fragment Pooling	26420826
Cross	SF1	Q15637	Kpna4	Mus musculus	O35343	Y2H Fragment Pooling	26420826
Cross	SF1	Q15637	Sfswap	Mus musculus	Q3USH5	Y2H Fragment Pooling	26420826
Cross	SF1	Q15637	Kpna1	Mus musculus	Q60960	Y2H Fragment Pooling	26420826

Cross: Cross-species interaction Intra: Intraspecies interaction

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	Agonist	99.06%	Unkown
HY-131445B	RR-RJW100	Control	98.22%	Unkown
HY-128207	SID7970631	Inhibitor	98.30%	Unkown
HY-153736	NSC 194308		98.40%	Unkown
HY-107404	SID 7969543	Inhibitor	99.42%	Unkown
HY-129359	PDP-Pfp		98.66%	Unkown
HY-131445	RJW100	Activator	99.93%	Unkown
HY-131445A	SS-RJW100	Agonist	99.91%	Unkown
HY-129372	PDdB-Pfp		/	Unkown
HY-148259	SF-1 antagonist-1	Antagonist	/	Unkown
HY-RS12756	SF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS14606	TM4SF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-155168	Iso-RJW100	Agonist	/	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	NCBI:102136762
Susscrofa domestica	SF1	NCBI
Leporidae	SF1	NCBI
Others	SF1	NCBI

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