Display Settings:

Format

Send to:

Choose Destination

SF1 splicing factor 1 [ Homo sapiens (human) ]

Gene ID: 7536, updated on 23-Sep-2014
Official Symbol
SF1provided by HGNC
Official Full Name
splicing factor 1provided by HGNC
Primary source
HGNC:HGNC:12950
See related
Ensembl:ENSG00000168066; HPRD:03306; MIM:601516; Vega:OTTHUMG00000066833
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
BBP; MBBP; ZFM1; ZNF162; D11S636; ZCCHC25
Summary
This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence and is required for the early stages of spliceosome assembly. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Location:
11q13
Exon count:
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (64764604..64778844, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64532076..64546515, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RAS guanyl releasing protein 2 (calcium and DAG-regulated) Neighboring gene phosphorylase, glycogen, muscle Neighboring gene mitogen-activated protein kinase kinase kinase kinase 2 Neighboring gene multiple endocrine neoplasia I

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding TAS
Traceable Author Statement
more info
PubMed 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
 
transcription corepressor activity TAS
Traceable Author Statement
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Leydig cell differentiation IEA
Inferred from Electronic Annotation
more info
 
mRNA 3'-splice site recognition TAS
Traceable Author Statement
more info
PubMed 
mRNA splicing, via spliceosome IC
Inferred by Curator
more info
PubMed 
male sex determination IEA
Inferred from Electronic Annotation
more info
 
negative regulation of smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of steroid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
spliceosomal complex assembly NAS
Non-traceable Author Statement
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
ribosome NAS
Non-traceable Author Statement
more info
PubMed 
spliceosomal complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
splicing factor 1
Names
splicing factor 1
zinc finger protein 162
transcription factor ZFM1
zinc finger gene in MEN1 locus
mammalian branch point-binding protein

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.

Genomic

  1. NG_021399.1 

    Range
    5001..19241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001178030.1NP_001171501.1  splicing factor 1 isoform 6

    See proteins identical to NP_001171501.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The resulting protein (isoform 6) has a distinct C-terminus and is longer than isoform 1.
    Source sequence(s)
    AI492561, BC038446, BC069273
    Consensus CDS
    CCDS53661.1
    UniProtKB/Swiss-Prot
    Q15637
    Related
    ENSP00000366604, OTTHUMP00000069753, ENST00000377387, OTTHUMT00000143243
    Conserved Domains (3) summary
    smart00343
    Location:403418
    ZnF_C2HC; zinc finger
    COG5176
    Location:142382
    MSL5; Splicing factor (branch point binding protein) [RNA processing and modification]
    cd02395
    Location:262380
    SF1_like-KH; Splicing factor 1 (SF1) K homology RNA-binding domain (KH). Splicing factor 1 (SF1) specifically recognizes the intron branch point sequence (BPS) UACUAAC in the pre-mRNA transcripts during spliceosome assembly. We show that the KH-QUA2 region of SF1 ...
  2. NM_001178031.1NP_001171502.1  splicing factor 1 isoform 5

    See proteins identical to NP_001171502.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (5) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AI492561, AK293753, AP001462, BC000773
    Consensus CDS
    CCDS53660.1
    UniProtKB/Swiss-Prot
    Q15637
    Conserved Domains (2) summary
    smart00343
    Location:252267
    ZnF_C2HC; zinc finger
    cd02395
    Location:111229
    SF1_like-KH; Splicing factor 1 (SF1) K homology RNA-binding domain (KH). Splicing factor 1 (SF1) specifically recognizes the intron branch point sequence (BPS) UACUAAC in the pre-mRNA transcripts during spliceosome assembly. We show that the KH-QUA2 region of SF1 ...
  3. NM_004630.3NP_004621.2  splicing factor 1 isoform 1

    See proteins identical to NP_004621.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform (1).
    Source sequence(s)
    AI492561, BC069273, DC368015, DC370979, Y08765
    Consensus CDS
    CCDS31599.1
    UniProtKB/TrEMBL
    A0A024R572
    UniProtKB/Swiss-Prot
    Q15637
    Related
    ENSP00000366607, OTTHUMP00000069752, ENST00000377390, OTTHUMT00000143242
    Conserved Domains (3) summary
    smart00343
    Location:278293
    ZnF_C2HC; zinc finger
    COG5176
    Location:17257
    MSL5; Splicing factor (branch point binding protein) [RNA processing and modification]
    cd02395
    Location:137255
    SF1_like-KH; Splicing factor 1 (SF1) K homology RNA-binding domain (KH). Splicing factor 1 (SF1) specifically recognizes the intron branch point sequence (BPS) UACUAAC in the pre-mRNA transcripts during spliceosome assembly. We show that the KH-QUA2 region of SF1 ...
  4. NM_201995.2NP_973724.1  splicing factor 1 isoform 2

    See proteins identical to NP_973724.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment in the 3' UTR and coding region which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI492561, AP001462, BC000773, BC034451, DC370979
    Consensus CDS
    CCDS8080.1
    UniProtKB/TrEMBL
    A0A024R5D9
    UniProtKB/Swiss-Prot
    Q15637
    Related
    ENSP00000334414, OTTHUMP00000069749, ENST00000334944, OTTHUMT00000143238
    Conserved Domains (3) summary
    smart00343
    Location:278293
    ZnF_C2HC; zinc finger
    COG5176
    Location:17257
    MSL5; Splicing factor (branch point binding protein) [RNA processing and modification]
    cd02395
    Location:137255
    SF1_like-KH; Splicing factor 1 (SF1) K homology RNA-binding domain (KH). Splicing factor 1 (SF1) specifically recognizes the intron branch point sequence (BPS) UACUAAC in the pre-mRNA transcripts during spliceosome assembly. We show that the KH-QUA2 region of SF1 ...
  5. NM_201997.2NP_973726.2  splicing factor 1 isoform 4

    See proteins identical to NP_973726.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple coding region difference, compared to variant 1, one of which results in a frameshift. It encodes isoform 4, which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI492561, BC069273, DC370979
    Consensus CDS
    CCDS44642.2
    UniProtKB/TrEMBL
    A0A024R566
    Related
    ENSP00000366611, OTTHUMP00000069751, ENST00000377394, OTTHUMT00000143241
    Conserved Domains (3) summary
    smart00343
    Location:278293
    ZnF_C2HC; zinc finger
    COG5176
    Location:17257
    MSL5; Splicing factor (branch point binding protein) [RNA processing and modification]
    cd02395
    Location:137255
    SF1_like-KH; Splicing factor 1 (SF1) K homology RNA-binding domain (KH). Splicing factor 1 (SF1) specifically recognizes the intron branch point sequence (BPS) UACUAAC in the pre-mRNA transcripts during spliceosome assembly. We show that the KH-QUA2 region of SF1 ...
  6. NM_201998.2NP_973727.1  splicing factor 1 isoform 3

    See proteins identical to NP_973727.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI492561, BC020217, BC069273, DC370979
    Consensus CDS
    CCDS8081.1
    UniProtKB/TrEMBL
    A0A024R588
    UniProtKB/Swiss-Prot
    Q15637
    Related
    ENSP00000227503, OTTHUMP00000069750, ENST00000227503, OTTHUMT00000143239
    Conserved Domains (3) summary
    smart00343
    Location:278293
    ZnF_C2HC; zinc finger
    COG5176
    Location:17257
    MSL5; Splicing factor (branch point binding protein) [RNA processing and modification]
    cd02395
    Location:137255
    SF1_like-KH; Splicing factor 1 (SF1) K homology RNA-binding domain (KH). Splicing factor 1 (SF1) specifically recognizes the intron branch point sequence (BPS) UACUAAC in the pre-mRNA transcripts during spliceosome assembly. We show that the KH-QUA2 region of SF1 ...

RNA

  1. NR_033649.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI492561, AK301803, BC069273, DC370979
  2. NR_033650.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI492561, BC032676, BC069273, DC370979

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    64764604..64778844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718681.1XP_006718744.1  

    Conserved Domains (3) summary
    smart00343
    Location:282297
    ZnF_C2HC; zinc finger
    COG5176
    Location:21261
    MSL5; Splicing factor (branch point binding protein) [RNA processing and modification]
    cd02395
    Location:141259
    SF1_like-KH; Splicing factor 1 (SF1) K homology RNA-binding domain (KH). Splicing factor 1 (SF1) specifically recognizes the intron branch point sequence (BPS) UACUAAC in the pre-mRNA transcripts during spliceosome assembly. We show that the KH-QUA2 region of SF1 ...
  2. XM_006718685.1XP_006718748.1  

    Conserved Domains (3) summary
    smart00343
    Location:282297
    ZnF_C2HC; zinc finger
    COG5176
    Location:21261
    MSL5; Splicing factor (branch point binding protein) [RNA processing and modification]
    cd02395
    Location:141259
    SF1_like-KH; Splicing factor 1 (SF1) K homology RNA-binding domain (KH). Splicing factor 1 (SF1) specifically recognizes the intron branch point sequence (BPS) UACUAAC in the pre-mRNA transcripts during spliceosome assembly. We show that the KH-QUA2 region of SF1 ...
  3. XM_006718683.1XP_006718746.1  

    Conserved Domains (3) summary
    smart00343
    Location:282297
    ZnF_C2HC; zinc finger
    COG5176
    Location:21261
    MSL5; Splicing factor (branch point binding protein) [RNA processing and modification]
    cd02395
    Location:141259
    SF1_like-KH; Splicing factor 1 (SF1) K homology RNA-binding domain (KH). Splicing factor 1 (SF1) specifically recognizes the intron branch point sequence (BPS) UACUAAC in the pre-mRNA transcripts during spliceosome assembly. We show that the KH-QUA2 region of SF1 ...
  4. XM_006718684.1XP_006718747.1  

    Conserved Domains (3) summary
    smart00343
    Location:282297
    ZnF_C2HC; zinc finger
    COG5176
    Location:21261
    MSL5; Splicing factor (branch point binding protein) [RNA processing and modification]
    cd02395
    Location:141259
    SF1_like-KH; Splicing factor 1 (SF1) K homology RNA-binding domain (KH). Splicing factor 1 (SF1) specifically recognizes the intron branch point sequence (BPS) UACUAAC in the pre-mRNA transcripts during spliceosome assembly. We show that the KH-QUA2 region of SF1 ...
  5. XM_006718682.1XP_006718745.1  

    Related
    ENSP00000396793, OTTHUMP00000196697, ENST00000433274, OTTHUMT00000157360
    Conserved Domains (3) summary
    smart00343
    Location:282297
    ZnF_C2HC; zinc finger
    COG5176
    Location:21261
    MSL5; Splicing factor (branch point binding protein) [RNA processing and modification]
    cd02395
    Location:141259
    SF1_like-KH; Splicing factor 1 (SF1) K homology RNA-binding domain (KH). Splicing factor 1 (SF1) specifically recognizes the intron branch point sequence (BPS) UACUAAC in the pre-mRNA transcripts during spliceosome assembly. We show that the KH-QUA2 region of SF1 ...

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    60858921..60873339
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    64415846..64430091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)