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U2AF1 U2 small nuclear RNA auxiliary factor 1 [ Homo sapiens (human) ]

Gene ID: 7307, updated on 25-Nov-2021

Summary

Official Symbol
U2AF1provided by HGNC
Official Full Name
U2 small nuclear RNA auxiliary factor 1provided by HGNC
Primary source
HGNC:HGNC:12453
See related
Ensembl:ENSG00000160201 MIM:191317
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
RN; FP793; U2AF35; U2AFBP; RNU2AF1
Summary
This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 35.4), colon (RPKM 24.4) and 25 other tissues See more
Orthologs
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Genomic context

See U2AF1 in Genome Data Viewer
Location:
21q22.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (43092956..43108291, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (44513066..44527688, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene PBX/knotted 1 homeobox 1 Neighboring gene cystathionine beta-synthase Neighboring gene uncharacterized LOC101928369 Neighboring gene mitochondrial ribosomal protein L51 pseudogene 2 Neighboring gene FOXM1-regulated, gastric cancer associated

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of selenium concentrations.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, U2 small nuclear RNA auxiliary factor 1 (U2AF1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with U2AF1 is increased by RRE PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp313J1712

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables pre-mRNA 3'-splice site binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in RNA splicing TAS
Traceable Author Statement
more info
PubMed 
involved_in mRNA processing TAS
Traceable Author Statement
more info
PubMed 
involved_in mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mRNA splicing, via spliceosome IC
Inferred by Curator
more info
PubMed 
Component Evidence Code Pubs
located_in Cajal body TAS
Traceable Author Statement
more info
PubMed 
part_of U2AF complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of U2AF complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of U2AF complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear speck ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
part_of spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of spliceosomal complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of spliceosomal complex IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
splicing factor U2AF 35 kDa subunit
Names
U2 small nuclear RNA auxillary factor 1
U2 small nuclear ribonucleoprotein auxillary factor, 35-KD subunit
U2 snRNP auxiliary factor small subunit
U2(RNU2) small nuclear RNA auxiliary factor binding protein
splicing factor U2AF 35kDa subunit

NCBI Reference Sequences (RefSeq)

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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_029455.1 RefSeqGene

    Range
    5001..19623
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_615

mRNA and Protein(s)

  1. NM_001025203.1NP_001020374.1  splicing factor U2AF 35 kDa subunit isoform b

    See identical proteins and their annotated locations for NP_001020374.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) lacks an in-frame segment of the coding region, compared to variant c. The resulting isoform (b) has a longer N-terminus when compared to isoform c.
    Source sequence(s)
    AF370386, AJ627978, CB110007
    Consensus CDS
    CCDS33574.1
    UniProtKB/Swiss-Prot
    Q01081
    Related
    ENSP00000369629.2, ENST00000380276.6
    Conserved Domains (2) summary
    pfam00642
    Location:149175
    zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
    cd12538
    Location:43146
    RRM_U2AF35; RNA recognition motif (RRM) found in U2 small nuclear ribonucleoprotein auxiliary factor U2AF 35 kDa subunit (U2AF35)
  2. NM_001025204.2NP_001020375.1  splicing factor U2AF 35 kDa subunit isoform c

    See identical proteins and their annotated locations for NP_001020375.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) represents the longest transcript, but encodes the shortest isoform (c).
    Source sequence(s)
    AF370386, AJ627978, BC005915, CB110007
    Consensus CDS
    CCDS42948.1
    UniProtKB/Swiss-Prot
    Q01081
    UniProtKB/TrEMBL
    Q7Z780
    Related
    ENSP00000418705.1, ENST00000459639.5
    Conserved Domains (2) summary
    pfam00642
    Location:76102
    zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
    cl17169
    Location:173
    RRM_SF; RNA recognition motif (RRM) superfamily
  3. NM_006758.3NP_006749.1  splicing factor U2AF 35 kDa subunit isoform a

    See identical proteins and their annotated locations for NP_006749.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) lacks an in-frame segment of the coding region, compared to variant c. The resulting isoform (a) has a longer N-terminus when compared to isoform c.
    Source sequence(s)
    AF370386, AJ627978, BC005915, CB110007
    Consensus CDS
    CCDS13694.1
    UniProtKB/Swiss-Prot
    P0DN76, Q01081
    UniProtKB/TrEMBL
    Q7Z780
    Related
    ENSP00000291552.4, ENST00000291552.9
    Conserved Domains (2) summary
    pfam00642
    Location:149175
    zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
    cd12538
    Location:43146
    RRM_U2AF35; RNA recognition motif (RRM) found in U2 small nuclear ribonucleoprotein auxiliary factor U2AF 35 kDa subunit (U2AF35)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    43092956..43108291 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452129.1XP_024307897.1  splicing factor U2AF 35 kDa subunit isoform X3

    Conserved Domains (2) summary
    pfam00642
    Location:76102
    zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
    cl17169
    Location:173
    RRM_SF; RNA recognition motif (RRM) superfamily
  2. XM_024452131.1XP_024307899.1  splicing factor U2AF 35 kDa subunit isoform X3

    Conserved Domains (2) summary
    pfam00642
    Location:76102
    zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
    cl17169
    Location:173
    RRM_SF; RNA recognition motif (RRM) superfamily
  3. XM_024452130.1XP_024307898.1  splicing factor U2AF 35 kDa subunit isoform X3

    Conserved Domains (2) summary
    pfam00642
    Location:76102
    zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
    cl17169
    Location:173
    RRM_SF; RNA recognition motif (RRM) superfamily
  4. XM_011529743.3XP_011528045.1  splicing factor U2AF 35 kDa subunit isoform X1

    Conserved Domains (2) summary
    pfam00642
    Location:116142
    zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
    cl17169
    Location:43113
    RRM_SF; RNA recognition motif (RRM) superfamily
  5. XM_017028468.2XP_016883957.1  splicing factor U2AF 35 kDa subunit isoform X2

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