Gene Gene information from NCBI Gene database.
Entrez ID 55660
Gene name Pre-mRNA processing factor 40A
Gene symbol PRPF40A
Synonyms (NCBI Gene)
FBP-11FBP11FLAF1FNBP3HIP-10HIP10HYPANY-REN-6Prp40
Chromosome 2
Chromosome location 2q23.3
miRNA miRNA information provided by mirtarbase database.
413
miRTarBase ID miRNA Experiments Reference
MIRT005210 hsa-miR-30a-5p pSILAC 18668040
MIRT025248 hsa-miR-34a-5p Proteomics 21566225
MIRT025248 hsa-miR-34a-5p Proteomics 21566225
MIRT025248 hsa-miR-34a-5p Proteomics 21566225
MIRT025248 hsa-miR-34a-5p Proteomics 21566225
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0003723 Function RNA binding HDA 22681889
GO:0003723 Function RNA binding IBA
GO:0005515 Function Protein binding IPI 15383276, 17161366, 17500595, 22113938, 22365833, 25416956, 26420826, 28514442, 32296183, 32814053, 33961781, 35271311
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612941 16463 ENSG00000196504
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75400
Protein name Pre-mRNA-processing factor 40 homolog A (Fas ligand-associated factor 1) (Formin-binding protein 11) (Formin-binding protein 3) (Huntingtin yeast partner A) (Huntingtin-interacting protein 10) (HIP-10) (Huntingtin-interacting protein A) (Renal carcinoma a
Protein function Binds to WASL/N-WASP and suppresses its translocation from the nucleus to the cytoplasm, thereby inhibiting its cytoplasmic function (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in th
PDB 1UZC , 1YWI , 1YWJ , 1ZR7 , 2CQN , 2DYF , 2KZG , 2L5F , 2L9V , 2LKS , 8PXW , 8PXX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00397 WW 143 171 WW domain Domain
PF00397 WW 183 212 WW domain Domain
PF01846 FF 395 444 FF domain Family
PF01846 FF 462 511 FF domain Family
PF01846 FF 529 584 FF domain Family
PF01846 FF 609 664 FF domain Family
PF01846 FF 745 796 FF domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain cortex (at protein level). Widely expressed. {ECO:0000269|PubMed:16391387, ECO:0000269|PubMed:9700202}.
Sequence
MRPGTGAERGGLMVSEMESHPPSQGPGDGERRLSGSSLCSGSWVSADGFLRRRPSMGHPG
MHYAPMGMHPMGQRANMPPVPHGMMPQMMPPMGGPPMGQMPGMMSSVMPGMMMSHMSQAS
MQPALPPGVNSMDVAAGTASGAKSMWTEHKSPDGRTYYYNTETKQSTWEKPDDLKTPAEQ
LLSKCPWKEYKSDSGKPYYYNSQTKESRWAKPKELEDLEGYQNTIVAGSLITKSNLHAMI
KAEESSKQEECTTTSTAPVPTTEIPTTMSTMAAAEAAAAVVAAAAAAAAAAAAANANAST
SASNTVSGTVPVVPEPEVTSIVATVVDNENTVTISTEEQAQLTSTPAIQDQSVEVSSNTG
EETSKQETVADFTPKKEEEESQPAKKTYTWNTKEEAKQAFKELLKEKRVPSNASWEQAMK
MIINDPRYSALAKLSEKKQAFNAY
KVQTEKEEKEEARSKYKEAKESFQRFLENHEKMTST
TRYKKAEQMFGEMEVWNAISERDRLEIYEDV
LFFLSKKEKEQAKQLRKRNWEALKNILDN
MANVTYSTTWSEAQQYLMDNPTFAEDEELQNMDKEDALICFEEH
IRALEKEEEEEKQKSL
LRERRRQRKNRESFQIFLDELHEHGQLHSMSSWMELYPTISSDIRFTNMLGQPGSTALDL
FKFY
VEDLKARYHDEKKIIKDILKDKGFVVEVNTTFEDFVAIISSTKRSTTLDAGNIKLA
FNSLLEKAEAREREREKEEARKMKRKESAFKSMLKQAAPPIELDAVWEDIRERFVKEPAF
EDITLESERKRIFKDF
MHVLEHECQHHHSKNKKHSKKSKKHHRKRSRSRSGSDSDDDDSH
SKKKRQRSESRSASEHSSSAESERSYKKSKKHKKKSKKRRHKSDSPESDAEREKDKKEKD
RESEKDRTRQRSESKHKSPKKKTGKDSGNWDTSGSELSEGELEKRRRTLLEQLDDDQ
Sequence length 957
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome   mRNA Splicing - Major Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1 Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinoma Non Small Cell Lung Associate 28258342
★☆☆☆☆
Found in Text Mining only
Heredodegenerative Disorders Nervous System Associate 17065151
★☆☆☆☆
Found in Text Mining only
Huntington Disease Associate 17065151, 21566141
★☆☆☆☆
Found in Text Mining only
Hypoxia Associate 28258342
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 28258342, 31088860, 36143845
★☆☆☆☆
Found in Text Mining only
Rett Syndrome Associate 17065151
★☆☆☆☆
Found in Text Mining only