2. Gene
  3. PRPF40A - pre-mRNA processing factor 40 homolog A Gene

PRPF40A - pre-mRNA processing factor 40 homolog A Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as HYPA; FBP11; FLAF1; FNBP3; HIP10; Prp40; FBP-11; HIP-10; NY-REN-6

Gene ID: 55660 | Gene type: protein coding

About PRPF40A

Cytogenetic location: 2q23.3 Genomic coordinates (GRCh38): 2:152,651,732-152,718,019 (from NCBI)

This gene has 16 transcripts (splice variants), 215 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 15.6), testis (RPKM 13.4) and 25 other tissues.

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, Apr 2022]

PRPF40A Products(25)

mRNA Protein Name
NM_001354431.4 NP_001341360.1 pre-mRNA-processing factor 40 homolog A isoform 2
NM_001354432.4 NP_001341361.1 pre-mRNA-processing factor 40 homolog A isoform 3
NM_001365596.4 NP_001352525.1 pre-mRNA-processing factor 40 homolog A isoform 4
NM_001365597.4 NP_001352526.1 pre-mRNA-processing factor 40 homolog A isoform 5
NM_001365598.4 NP_001352527.1 pre-mRNA-processing factor 40 homolog A isoform 6
NM_001365599.4 NP_001352528.1 pre-mRNA-processing factor 40 homolog A isoform 7
NM_001365600.4 NP_001352529.1 pre-mRNA-processing factor 40 homolog A isoform 8
NM_001365601.4 NP_001352530.1 pre-mRNA-processing factor 40 homolog A isoform 9
NM_001365602.4 NP_001352531.1 pre-mRNA-processing factor 40 homolog A isoform 10
NM_001365603.4 NP_001352532.1 pre-mRNA-processing factor 40 homolog A isoform 11
NM_001365604.4 NP_001352533.1 pre-mRNA-processing factor 40 homolog A isoform 12
NM_001365605.4 NP_001352534.1 pre-mRNA-processing factor 40 homolog A isoform 12
NM_001395472.1 NP_001382401.1 pre-mRNA-processing factor 40 homolog A isoform 8
NM_001395473.1 NP_001382402.1 pre-mRNA-processing factor 40 homolog A isoform 1
NM_001395475.1 NP_001382404.1 pre-mRNA-processing factor 40 homolog A isoform 13
NM_001395476.1 NP_001382405.1 pre-mRNA-processing factor 40 homolog A isoform 9
NM_001395477.1 NP_001382406.1 pre-mRNA-processing factor 40 homolog A isoform 14
NM_001395478.1 NP_001382407.1 pre-mRNA-processing factor 40 homolog A isoform 14
NM_001395479.1 NP_001382408.1 pre-mRNA-processing factor 40 homolog A isoform 2
NM_001395480.1 NP_001382409.1 pre-mRNA-processing factor 40 homolog A isoform 15
NM_001395481.1 NP_001382410.1 pre-mRNA-processing factor 40 homolog A isoform 11
NM_001395482.1 NP_001382411.1 pre-mRNA-processing factor 40 homolog A isoform 16
NM_001395483.1 NP_001382412.1 pre-mRNA-processing factor 40 homolog A isoform 17
NM_001395488.1 NP_001382417.1 pre-mRNA-processing factor 40 homolog A isoform 18
NM_017892.5 NP_060362.3 pre-mRNA-processing factor 40 homolog A isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15383276 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cell migration IMP
IMP: Inferred from mutant phenotype
21834987 GOA
involved in cytoskeleton organization IMP
IMP: Inferred from mutant phenotype
21834987 GOA
involved in regulation of cell shape IMP
IMP: Inferred from mutant phenotype
21834987 GOA
involved in regulation of cytokinesis IMP
IMP: Inferred from mutant phenotype
21834987 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nuclear matrix IDA
IDA: Inferred from direct assay
16391387 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

PRPF40A Protein Structure

WW

WW: WW domain (119 - 144)

WW

WW: WW domain (158 - 185)

FF

FF: FF domain (368 - 417)

FF

FF: FF domain (435 - 483)

FF

FF: FF domain (505 - 557)

FF

FF: FF domain (582 - 637)

FF

FF: FF domain (719 - 769)

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  • 930 a.a.
Protein Preferred Names Protein Names

pre-mRNA-processing factor 40 homolog A

Fas-ligand associated factor 1

PRPF40A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
PRPF40A O75400 SF3A1 Homo sapiens Q15459
Y2H
22365833
Intra
PRPF40A O75400 SF3A1 Homo sapiens Q15459
Anti Tag CoIP
22365833
Intra
PRPF40A O75400 HTT Homo sapiens P42858
NMR
17161366
Intra
PRPF40A O75400 HTT Homo sapiens P42858
Y2H
17500595
Intra
PRPF40A O75400 HTT Homo sapiens P42858
Y2H
15383276
Intra
PRPF40A O75400 NKAP Homo sapiens Q8N5F7
Y2H
22365833
Intra
PRPF40A O75400 NKAP Homo sapiens Q8N5F7
Anti Tag CoIP
22365833
Intra
PRPF40A O75400 SF1 Homo sapiens Q15637
Y2H Fragment Pooling
26420826
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant
Peroneal Nerve Paralysis

Peroneal Nerve Palsy
Borderline Leprosy

Midborderline Leprosy

Borderline Or Dimorphous Leprosy

Leprosy, Borderline
Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea
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 (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS11212 PRPF40A Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus PRPF40A MGD MGI:1860512
Rattus norvegicus PRPF40A RGD RGD:1311401
Bos taurus PRPF40A VGNC VGNC:33379
Canis familiaris PRPF40A VGNC VGNC:45026
Felis catus PRPF40A VGNC VGNC:64375
Macaca mulatta PRPF40A VGNC VGNC:76266