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    PRPF40A pre-mRNA processing factor 40 homolog A [ Homo sapiens (human) ]

    Gene ID: 55660, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PRPF40Aprovided by HGNC
    Official Full Name
    pre-mRNA processing factor 40 homolog Aprovided by HGNC
    Primary source
    HGNC:HGNC:16463
    See related
    Ensembl:ENSG00000196504 MIM:612941; AllianceGenome:HGNC:16463
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HYPA; FBP11; FLAF1; FNBP3; HIP10; Prp40; FBP-11; HIP-10; NY-REN-6
    Summary
    Enables RNA binding activity. Involved in several processes, including cytoskeleton organization; regulation of cell shape; and regulation of cytokinesis. Located in nuclear matrix and nuclear speck. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 15.6), testis (RPKM 13.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRPF40A in Genome Data Viewer
    Location:
    2q23.3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (152651732..152718019, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (153104294..153170565, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (153508246..153574533, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373689 Neighboring gene uncharacterized LOC105373688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153183153-153183652 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153258063-153258564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153258565-153259064 Neighboring gene Sharpr-MPRA regulatory region 2662 Neighboring gene formin like 2 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:153280187-153280913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153280914-153281639 Neighboring gene Sharpr-MPRA regulatory region 469 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:153309665-153310256 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:153310257-153310847 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:153312623-153313213 Neighboring gene nuclear distribution C pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:153357706-153358281 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16649 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:153474731-153475930 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:153502126-153503325 Neighboring gene NANOG hESC enhancer GRCh37_chr2:153508427-153509132 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:153519134-153520333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16650 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:153557503-153558702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:153558975-153559476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16655 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:153574523-153575228 Neighboring gene ARF like GTPase 6 interacting protein 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:153661367-153661578 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:153702825-153704024 Neighboring gene ubiquilin 4 pseudogene 2 Neighboring gene uncharacterized LOC105373691 Neighboring gene NANOG hESC enhancer GRCh37_chr2:153842337-153842838

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Intramolecular autoinhibition regulates the selectivity of PRPF40A tandem WW domains for proline-rich motifs. Martínez-Lumbreras S, et al. Nat Commun, 2024 May 8. PMID 38719828, Free PMC Article
    2. The effect of C-terminal helix on the stability of FF domain studied by molecular dynamics simulation. Zhao L, et al. Int J Mol Sci, 2012. PMID 22408419, Free PMC Article
    3. A transient and low-populated protein-folding intermediate at atomic resolution. Korzhnev DM, et al. Science, 2010 Sep 10. PMID 20829478
    4. Structure of FBP11 WW1-PL ligand complex reveals the mechanism of proline-rich ligand recognition by group II/III WW domains. Kato Y, et al. J Biol Chem, 2006 Dec 29. PMID 17065151
    5. Interaction with polyglutamine-expanded huntingtin alters cellular distribution and RNA processing of huntingtin yeast two-hybrid protein A (HYPA). Jiang YJ, et al. J Biol Chem, 2011 Jul 15. PMID 21566141, Free PMC Article

    See all (179) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Intramolecular autoinhibition regulates the selectivity of PRPF40A tandem WW domains for proline-rich motifs.
      Title: Intramolecular autoinhibition regulates the selectivity of PRPF40A tandem WW domains for proline-rich motifs.
    2. our data revealed that COL1A1, UCP2, and PRPF40A are novel players implicated in the complex network of hypoxia response in non-small cell lung cancer
      Title: COL1A1, PRPF40A, and UCP2 correlate with hypoxia markers in non-small cell lung cancer.
    3. Multidisciplinary approach showed that HsPrp40Ap interacts with centrin in vitro, supporting a coupled functional role for these proteins in pre-mRNA splicing.
      Title: Prp40 Homolog A Is a Novel Centrin Target.
    4. Study of native domain FF3-71 from human HYPA/FBP11 and the truncated version FF3-60 with C-terminal helix being deleted by molecular dynamics simulations.
      Title: The effect of C-terminal helix on the stability of FF domain studied by molecular dynamics simulation.
    5. Interaction with polyglutamine-expanded huntingtin alters cellular distribution and RNA processing of huntingtin yeast two-hybrid protein A (HYPA).
      Title: Interaction with polyglutamine-expanded huntingtin alters cellular distribution and RNA processing of huntingtin yeast two-hybrid protein A (HYPA).
    6. an atomic-resolution structure of an "invisible" folding intermediate of a small protein module: the FF domain; structure reveals non-native elements preventing formation of native conformation in the carboxyl-terminal part of the protein
      Title: A transient and low-populated protein-folding intermediate at atomic resolution.
    7. FBP11 binding mechanism underlies the molecular pathology of severe neurological disorders, e.g., Rett syndrome and Huntington disease.
      Title: Structure of FBP11 WW1-PL ligand complex reveals the mechanism of proline-rich ligand recognition by group II/III WW domains.
    8. NAKAP-HypA scaffold is a potential nuclear docking site for huntingtin protein and may contribute to the nuclear accumulation of huntingtin observed in HD.
      Title: Interaction of the nuclear matrix protein NAKAP with HypA and huntingtin: implications for nuclear toxicity in Huntington's disease pathogenesis.
    9. Results suggest an essential role of WW/FF domain-containing factors such as FBP11 and CA150 in pre-mRNA splicing that likely occurs in concert with transcription in vivo.
      Title: The WW domain-containing proteins interact with the early spliceosome and participate in pre-mRNA splicing in vivo.
    10. Data describe the structure of an FF domain from HYPA/FBP11, which differs from those of other phosphopeptide-binding domains and represents a novel phosphopeptide-binding fold.
      Title: The structure of an FF domain from human HYPA/FBP11.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify PRP40 pre-Mrna processing factor 40 homolog A (PRPF40A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify PRP40 pre-mRNA processing factor 40 homolog A (PRPF40A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify PRP40 pre-Mrna processing factor 40 homolog A (PRPF40A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify PRP40 pre-Mrna processing factor 40 homolog A (PRPF40A), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20585

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mRNA cis splicing, via spliceosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of U1 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2-type prespliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    pre-mRNA-processing factor 40 homolog A
    Names
    Fas-ligand associated factor 1
    Huntingtin-interacting protein A
    NY-REN-6 antigen
    PRP40 pre-mRNA processing factor 40 homolog A
    fas ligand-associated factor 1
    formin binding protein 3
    formin-binding protein 11
    huntingtin yeast partner A
    huntingtin-interacting protein 10
    renal carcinoma antigen NY-REN-6

    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.

    mRNA and Protein(s)

    1. NM_001354431.4 → NP_001341360.1  pre-mRNA-processing factor 40 homolog A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC012443, AC079344
      UniProtKB/TrEMBL
      A0A8V8TM87
      Conserved Domains (1) summary
      COG5104
      Location:110 → 751
      PRP40; Splicing factor [RNA processing and modification]

    2. NM_001354432.4 → NP_001341361.1  pre-mRNA-processing factor 40 homolog A isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC012443, AC079344
      UniProtKB/TrEMBL
      A0A8V8TM87
      Conserved Domains (1) summary
      cl00157
      Location:38 → 701
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

    3. NM_001365596.4 → NP_001352525.1  pre-mRNA-processing factor 40 homolog A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      UniProtKB/Swiss-Prot
      O43856, O75400, O75404, Q8TBQ1, Q9H782, Q9NWU9, Q9P0Q2, Q9Y5A8
      Conserved Domains (1) summary
      cl00157
      Location:152 → 815
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

    4. NM_001365597.4 → NP_001352526.1  pre-mRNA-processing factor 40 homolog A isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      Consensus CDS
      CCDS92876.1
      UniProtKB/Swiss-Prot
      O43856, O75400, O75404, Q8TBQ1, Q9H782, Q9NWU9, Q9P0Q2, Q9Y5A8
      UniProtKB/TrEMBL
      F5H578
      Related
      ENSP00000444656.4, ENST00000545856.8
      Conserved Domains (1) summary
      cl00157
      Location:152 → 811
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

    5. NM_001365598.4 → NP_001352527.1  pre-mRNA-processing factor 40 homolog A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      UniProtKB/Swiss-Prot
      O43856, O75400, O75404, Q8TBQ1, Q9H782, Q9NWU9, Q9P0Q2, Q9Y5A8
      Conserved Domains (1) summary
      cl00157
      Location:152 → 797
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

    6. NM_001365599.4 → NP_001352528.1  pre-mRNA-processing factor 40 homolog A isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      UniProtKB/Swiss-Prot
      O43856, O75400, O75404, Q8TBQ1, Q9H782, Q9NWU9, Q9P0Q2, Q9Y5A8
      Conserved Domains (1) summary
      cl00157
      Location:152 → 793
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

    7. NM_001365600.4 → NP_001352529.1  pre-mRNA-processing factor 40 homolog A isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      Consensus CDS
      CCDS92878.1
      UniProtKB/TrEMBL
      A0A8V8TM61, A0A8V8TM87
      Related
      ENSP00000513920.1, ENST00000698772.1
      Conserved Domains (1) summary
      COG5104
      Location:110 → 773
      PRP40; Splicing factor [RNA processing and modification]

    8. NM_001365601.4 → NP_001352530.1  pre-mRNA-processing factor 40 homolog A isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      UniProtKB/TrEMBL
      A0A8V8TM87
      Conserved Domains (1) summary
      COG5104
      Location:110 → 755
      PRP40; Splicing factor [RNA processing and modification]

    9. NM_001365602.4 → NP_001352531.1  pre-mRNA-processing factor 40 homolog A isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      UniProtKB/TrEMBL
      A0A8V8TM87
      Conserved Domains (1) summary
      cl00157
      Location:54 → 717
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

    10. NM_001365603.4 → NP_001352532.1  pre-mRNA-processing factor 40 homolog A isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      UniProtKB/TrEMBL
      A0A8V8TM87
      Conserved Domains (1) summary
      COG5104
      Location:54 → 713
      PRP40; Splicing factor [RNA processing and modification]

    11. NM_001365604.4 → NP_001352533.1  pre-mRNA-processing factor 40 homolog A isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      UniProtKB/TrEMBL
      A0A8V8TM87
      Conserved Domains (1) summary
      COG5104
      Location:54 → 695
      PRP40; Splicing factor [RNA processing and modification]

    12. NM_001365605.4 → NP_001352534.1  pre-mRNA-processing factor 40 homolog A isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      UniProtKB/TrEMBL
      A0A8V8TM87
      Conserved Domains (1) summary
      COG5104
      Location:54 → 695
      PRP40; Splicing factor [RNA processing and modification]

    13. NM_001395472.1 → NP_001382401.1  pre-mRNA-processing factor 40 homolog A isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      Consensus CDS
      CCDS92878.1
      UniProtKB/TrEMBL
      A0A8V8TM61, A0A8V8TM87
      Conserved Domains (1) summary
      COG5104
      Location:110 → 773
      PRP40; Splicing factor [RNA processing and modification]

    14. NM_001395473.1 → NP_001382402.1  pre-mRNA-processing factor 40 homolog A isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      UniProtKB/TrEMBL
      A0A8V8TM87
      Conserved Domains (1) summary
      COG5104
      Location:110 → 769
      PRP40; Splicing factor [RNA processing and modification]

    15. NM_001395475.1 → NP_001382404.1  pre-mRNA-processing factor 40 homolog A isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      UniProtKB/TrEMBL
      A0A8V8TM87
      Conserved Domains (1) summary
      COG5104
      Location:95 → 758
      PRP40; Splicing factor [RNA processing and modification]

    16. NM_001395476.1 → NP_001382405.1  pre-mRNA-processing factor 40 homolog A isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      UniProtKB/TrEMBL
      A0A8V8TM87
      Conserved Domains (1) summary
      COG5104
      Location:110 → 755
      PRP40; Splicing factor [RNA processing and modification]

    17. NM_001395477.1 → NP_001382406.1  pre-mRNA-processing factor 40 homolog A isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      Consensus CDS
      CCDS92877.1
      UniProtKB/TrEMBL
      A0A8Q3SIG7, A0A8V8TM87
      Related
      ENSP00000512592.1, ENST00000696382.1
      Conserved Domains (1) summary
      COG5104
      Location:95 → 754
      PRP40; Splicing factor [RNA processing and modification]

    18. NM_001395478.1 → NP_001382407.1  pre-mRNA-processing factor 40 homolog A isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      Consensus CDS
      CCDS92877.1
      UniProtKB/TrEMBL
      A0A8Q3SIG7, A0A8V8TM87
      Conserved Domains (1) summary
      COG5104
      Location:95 → 754
      PRP40; Splicing factor [RNA processing and modification]

    19. NM_001395479.1 → NP_001382408.1  pre-mRNA-processing factor 40 homolog A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      UniProtKB/TrEMBL
      A0A8V8TM87
      Conserved Domains (1) summary
      COG5104
      Location:110 → 751
      PRP40; Splicing factor [RNA processing and modification]

    20. NM_001395480.1 → NP_001382409.1  pre-mRNA-processing factor 40 homolog A isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      UniProtKB/TrEMBL
      A0A8V8TM87
      Conserved Domains (3) summary
      PHA03255
      Location:165 → 307
      PHA03255; BDLF3; Provisional
      COG5104
      Location:298 → 716
      PRP40; Splicing factor [RNA processing and modification]
      cd00201
      Location:104 → 134
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

    21. NM_001395481.1 → NP_001382410.1  pre-mRNA-processing factor 40 homolog A isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      UniProtKB/TrEMBL
      A0A8V8TM87
      Conserved Domains (1) summary
      COG5104
      Location:54 → 713
      PRP40; Splicing factor [RNA processing and modification]

    22. NM_001395482.1 → NP_001382411.1  pre-mRNA-processing factor 40 homolog A isoform 16

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      UniProtKB/TrEMBL
      A0A8V8TM87
      Conserved Domains (1) summary
      COG5104
      Location:54 → 699
      PRP40; Splicing factor [RNA processing and modification]

    23. NM_001395483.1 → NP_001382412.1  pre-mRNA-processing factor 40 homolog A isoform 17

      Status: VALIDATED

      Source sequence(s)
      AC012443, AC079344
      UniProtKB/TrEMBL
      A0A8V8TM87
      Conserved Domains (2) summary
      smart00441
      Location:617 → 671
      FF; Contains two conserved F residues
      COG5104
      Location:6 → 554
      PRP40; Splicing factor [RNA processing and modification]

    24. NM_001395488.1 → NP_001382417.1  pre-mRNA-processing factor 40 homolog A isoform 18

      Status: VALIDATED

      Description
      Transcript Variant: This variant (25) encodes the longest isoform (18).
      Source sequence(s)
      AC012443, AC079344
      Consensus CDS
      CCDS92879.1
      UniProtKB/TrEMBL
      A0A7N4I394, A0A8V8TM87
      Related
      ENSP00000386458.4, ENST00000410080.8
      Conserved Domains (1) summary
      COG5104
      Location:174 → 833
      PRP40; Splicing factor [RNA processing and modification]

    25. NM_017892.5 → NP_060362.3  pre-mRNA-processing factor 40 homolog A isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC012443, AC079344
      UniProtKB/TrEMBL
      A0A8V8TM87
      Conserved Domains (1) summary
      COG5104
      Location:110 → 769
      PRP40; Splicing factor [RNA processing and modification]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      152651732..152718019 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444942.1 → XP_047300898.1  pre-mRNA-processing factor 40 homolog A isoform X3

    2. XM_047444941.1 → XP_047300897.1  pre-mRNA-processing factor 40 homolog A isoform X2

      Related
      ENSP00000513921.1, ENST00000698773.1

    3. XM_011511447.4 → XP_011509749.2  pre-mRNA-processing factor 40 homolog A isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      153104294..153170565 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342878.1 → XP_054198853.1  pre-mRNA-processing factor 40 homolog A isoform X3

    2. XM_054342877.1 → XP_054198852.1  pre-mRNA-processing factor 40 homolog A isoform X2

    3. XM_054342876.1 → XP_054198851.1  pre-mRNA-processing factor 40 homolog A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75400.2 GenPept UniProtKB/Swiss-Prot:O75400

    Gene LinkOut

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