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PRPF18 pre-mRNA processing factor 18 [ Homo sapiens (human) ]

Gene ID: 8559, updated on 28-Oct-2024

Summary

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Official Symbol
PRPF18provided by HGNC
Official Full Name
pre-mRNA processing factor 18provided by HGNC
Primary source
HGNC:HGNC:17351
See related
Ensembl:ENSG00000165630 MIM:604993; AllianceGenome:HGNC:17351
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
PRP18; hPrp18
Summary
Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in fat (RPKM 3.4), brain (RPKM 3.1) and 25 other tissues See more
Orthologs
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Genomic context

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See PRPF18 in Genome Data Viewer
Location:
10p13
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (13586965..13655929)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (13599966..13668950)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (13628965..13697929)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene BEN domain containing 7 Neighboring gene uncharacterized LOC105376422 Neighboring gene BEND7 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3055 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:13629435-13630030 Neighboring gene ribosomal protein L6 pseudogene 24 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:13715567-13716091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2156 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:13732519-13733075 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2157 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:13749502-13750237 Neighboring gene uncharacterized LOC124902379 Neighboring gene uncharacterized LOC105376426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:13753704-13754570 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:13754571-13755435 Neighboring gene FERM domain containing 4A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2158 Neighboring gene RNA, 5S ribosomal pseudogene 301

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 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. Solution structure of the splicing factor motif of the human Prp18 protein. He F, et al. Proteins, 2012 Mar. PMID 22213562
  2. Pre-mRNA Processing Factor Prp18 Is a Stimulatory Factor of Influenza Virus RNA Synthesis and Possesses Nucleoprotein Chaperone Activity. Minakuchi M, et al. J Virol, 2017 Feb 1. PMID 27852861, Free PMC Article
  3. Stages in the second reaction of pre-mRNA splicing: the final step is ATP independent. Horowitz DS, et al. Genes Dev, 1993 Feb. PMID 8436300
  4. A human protein required for the second step of pre-mRNA splicing is functionally related to a yeast splicing factor. Horowitz DS, et al. Genes Dev, 1997 Jan 1. PMID 9000057
  5. Identification of a novel locus associated with skin colour in African-admixed populations. Hernandez-Pacheco N, et al. Sci Rep, 2017 Mar 16. PMID 28300201, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These results validated the association of two previously known skin pigmentation genes, SLC24A5 (minimum p = 2.62 x 10(-14), rs1426654) and SLC45A2 (minimum p = 9.71 x 10(-10), rs16891982), and revealed the intergenic region of BEND7 and PRPF18 as a novel locus associated with this trait (minimum p = 4.58 x 10(-9), rs6602666).
    Title: Identification of a novel locus associated with skin colour in African-admixed populations.
  2. We identified the pre-mRNA processing factor Prp18 as a stimulatory factor for influenza virus RNA synthesis. Prp18 facilitates the elongation reaction of viral polymerases by preventing the deleterious annealing of newly synthesized RNA to the template. Prp18 functions as a chaperone for NP to stimulate the formation of NP-RNA complexes.
    Title: Pre-mRNA Processing Factor Prp18 Is a Stimulatory Factor of Influenza Virus RNA Synthesis and Possesses Nucleoprotein Chaperone Activity.
  3. Presented is solution structure of the splicing factor motif of hPrp18, which forms a compact fold with two a helices interacting head-to-tail and a fixed linker loop.
    Title: Solution structure of the splicing factor motif of the human Prp18 protein.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
EBI GWAS Catalog
Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

  • FLJ10210, FLJ30455, FLJ42487, FLJ43137, DKFZp434L162, DKFZp686H1792

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 generation of catalytic spliceosome for second transesterification step IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mRNA processing TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of U2-type post-spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of U4/U6 x U5 tri-snRNP complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of U5 snRNP IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 
part_of spliceosomal complex TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
pre-mRNA-splicing factor 18
Names
PRP18 homolog
PRP18 pre-mRNA processing factor 18 homolog
PRP18 pre-mRNA processing factor 18 homolog(PRPF18)

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_001395875.1 → NP_001382804.1  pre-mRNA-splicing factor 18 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL157392
    UniProtKB/TrEMBL
    B2RBU0
    Conserved Domains (2) summary
    smart00500
    Location:88 → 131
    SFM; Splicing Factor Motif, present in Prp18 and Pr04
    pfam02840
    Location:200 → 336
    Prp18; Prp18 domain

  2. NM_001395876.1 → NP_001382805.1  pre-mRNA-splicing factor 18 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL157392
    UniProtKB/TrEMBL
    B2RBU0
    Conserved Domains (2) summary
    smart00500
    Location:73 → 116
    SFM; Splicing Factor Motif, present in Prp18 and Pr04
    pfam02840
    Location:185 → 321
    Prp18; Prp18 domain

  3. NM_001395877.1 → NP_001382806.1  pre-mRNA-splicing factor 18 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL157392
    UniProtKB/TrEMBL
    B2RBU0
    Conserved Domains (1) summary
    smart00500
    Location:79 → 122
    SFM; Splicing Factor Motif, present in Prp18 and Pr04

  4. NM_001395878.1 → NP_001382807.1  pre-mRNA-splicing factor 18 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL157392
    UniProtKB/TrEMBL
    B2RBU0
    Conserved Domains (2) summary
    smart00500
    Location:64 → 107
    SFM; Splicing Factor Motif, present in Prp18 and Pr04
    pfam02840
    Location:176 → 312
    Prp18; Prp18 domain

  5. NM_001395879.1 → NP_001382808.1  pre-mRNA-splicing factor 18 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL157392
    UniProtKB/TrEMBL
    B2RBU0
    Conserved Domains (1) summary
    smart00500
    Location:79 → 122
    SFM; Splicing Factor Motif, present in Prp18 and Pr04

  6. NM_001395880.1 → NP_001382809.1  pre-mRNA-splicing factor 18 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL157392
    UniProtKB/TrEMBL
    B2RBU0
    Conserved Domains (1) summary
    smart00500
    Location:88 → 131
    SFM; Splicing Factor Motif, present in Prp18 and Pr04

  7. NM_001395881.1 → NP_001382810.1  pre-mRNA-splicing factor 18 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL157392
    UniProtKB/TrEMBL
    B2RBU0
    Conserved Domains (2) summary
    smart00500
    Location:79 → 122
    SFM; Splicing Factor Motif, present in Prp18 and Pr04
    pfam02840
    Location:193 → 280
    Prp18; Prp18 domain

  8. NM_001395882.1 → NP_001382811.1  pre-mRNA-splicing factor 18 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL157392
    UniProtKB/TrEMBL
    B2RBU0

  9. NM_001395883.1 → NP_001382812.1  pre-mRNA-splicing factor 18 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AL157392
    Conserved Domains (1) summary
    smart00500
    Location:73 → 116
    SFM; Splicing Factor Motif, present in Prp18 and Pr04

  10. NM_001395884.1 → NP_001382813.1  pre-mRNA-splicing factor 18 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AL157392
    Conserved Domains (1) summary
    smart00500
    Location:79 → 122
    SFM; Splicing Factor Motif, present in Prp18 and Pr04

  11. NM_001395885.1 → NP_001382814.1  pre-mRNA-splicing factor 18 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL157392
    Conserved Domains (1) summary
    smart00500
    Location:3 → 46
    SFM; Splicing Factor Motif, present in Prp18 and Pr04

  12. NM_001395886.1 → NP_001382815.1  pre-mRNA-splicing factor 18 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL157392
    Conserved Domains (1) summary
    smart00500
    Location:3 → 46
    SFM; Splicing Factor Motif, present in Prp18 and Pr04

  13. NM_001395887.1 → NP_001382816.1  pre-mRNA-splicing factor 18 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AL157392
    Conserved Domains (1) summary
    smart00500
    Location:64 → 107
    SFM; Splicing Factor Motif, present in Prp18 and Pr04

  14. NM_003675.4 → NP_003666.1  pre-mRNA-splicing factor 18 isoform 2

    See identical proteins and their annotated locations for NP_003666.1

    Status: REVIEWED

    Source sequence(s)
    AI580379, AL157392, AU142253, BC000794, BC002572
    Consensus CDS
    CCDS7100.1
    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9
    UniProtKB/TrEMBL
    B2RBU0
    Related
    ENSP00000367835.3, ENST00000378572.8
    Conserved Domains (2) summary
    smart00500
    Location:79 → 122
    SFM; Splicing Factor Motif, present in Prp18 and Pr04
    pfam02840
    Location:191 → 327
    Prp18; Prp18 domain

RNA

  1. NR_172904.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL157392

  2. NR_172905.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL157392

  3. NR_172906.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL157392

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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    13586965..13655929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047425923.1 → XP_047281879.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  2. XM_047425933.1 → XP_047281889.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  3. XM_047425943.1 → XP_047281899.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  4. XM_047425938.1 → XP_047281894.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  5. XM_047425944.1 → XP_047281900.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  6. XM_047425947.1 → XP_047281903.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  7. XM_047425949.1 → XP_047281905.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  8. XM_047425926.1 → XP_047281882.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  9. XM_047425936.1 → XP_047281892.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  10. XM_047425929.1 → XP_047281885.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  11. XM_047425934.1 → XP_047281890.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  12. XM_047425927.1 → XP_047281883.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  13. XM_047425940.1 → XP_047281896.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  14. XM_047425946.1 → XP_047281902.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  15. XM_047425948.1 → XP_047281904.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  16. XM_047425950.1 → XP_047281906.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  17. XM_047425953.1 → XP_047281909.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  18. XM_047425931.1 → XP_047281887.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  19. XM_047425932.1 → XP_047281888.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  20. XM_047425939.1 → XP_047281895.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  21. XM_047425945.1 → XP_047281901.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  22. XM_047425935.1 → XP_047281891.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  23. XM_047425957.1 → XP_047281913.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  24. XM_047425959.1 → XP_047281915.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  25. XM_047425928.1 → XP_047281884.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  26. XM_047425930.1 → XP_047281886.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  27. XM_047425942.1 → XP_047281898.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  28. XM_047425937.1 → XP_047281893.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  29. XM_047425951.1 → XP_047281907.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  30. XM_047425958.1 → XP_047281914.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  31. XM_047425954.1 → XP_047281910.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  32. XM_047425961.1 → XP_047281917.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  33. XM_047425960.1 → XP_047281916.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  34. XM_047425955.1 → XP_047281911.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  35. XM_047425962.1 → XP_047281918.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  36. XM_047425924.1 → XP_047281880.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  37. XM_047425925.1 → XP_047281881.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  38. XM_047425952.1 → XP_047281908.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  39. XM_047425964.1 → XP_047281920.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  40. XM_047425941.1 → XP_047281897.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  41. XM_047425956.1 → XP_047281912.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  42. XM_047425963.1 → XP_047281919.1  pre-mRNA-splicing factor 18 isoform X2

    UniProtKB/Swiss-Prot
    Q5T9P9, Q99633, Q9BUI9

  43. XM_047425966.1 → XP_047281922.1  pre-mRNA-splicing factor 18 isoform X4

  44. XM_047425965.1 → XP_047281921.1  pre-mRNA-splicing factor 18 isoform X3

  45. XM_047425967.1 → XP_047281923.1  pre-mRNA-splicing factor 18 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    13599966..13668950
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367056.1 → XP_054223031.1  pre-mRNA-splicing factor 18 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99633.1 GenPept UniProtKB/Swiss-Prot:Q99633

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