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Entry version 186 (13 Feb 2019)
Sequence version 2 (22 Aug 2003)
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Protein

Pre-mRNA-processing factor 40 homolog A

Gene

PRPF40A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 the control of cell shape and migration. May play a role in cytokinesis. May be involved in pre-mRNA splicing.By similarity1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell cycle, Cell division, mRNA processing, mRNA splicing

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-72163 mRNA Splicing - Major Pathway

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
O75400

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...
MoonDBi
O75400 Predicted

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Pre-mRNA-processing factor 40 homolog A
Alternative name(s):
Fas ligand-associated factor 1
Formin-binding protein 11
Formin-binding protein 3
Huntingtin yeast partner A
Huntingtin-interacting protein 10
Short name:
HIP-10
Huntingtin-interacting protein A
Renal carcinoma antigen NY-REN-6
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PRPF40A
Synonyms:FBP11, FLAF1, FNBP3, HIP10, HYPA
ORF Names:HSPC225
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000196504.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16463 PRPF40A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612941 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O75400

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
55660

Open Targets

More...
OpenTargetsi
ENSG00000196504

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28195

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PRPF40A

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000760851 – 957Pre-mRNA-processing factor 40 homolog AAdd BLAST957

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei9Omega-N-methylarginineBy similarity1
Modified residuei34PhosphoserineCombined sources1
Modified residuei151PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki191Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei196N6-acetyllysineCombined sources1
Cross-linki241Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei345PhosphothreonineCombined sources1
Modified residuei373PhosphothreonineCombined sources1
Cross-linki375Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki376Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei723PhosphoserineCombined sources1
Modified residuei787PhosphoserineCombined sources1
Modified residuei883PhosphoserineCombined sources1
Modified residuei885PhosphoserineCombined sources1
Modified residuei888PhosphoserineCombined sources1
Modified residuei932PhosphothreonineCombined sources1
Modified residuei933PhosphoserineCombined sources1
Modified residuei935PhosphoserineCombined sources1
Modified residuei938PhosphoserineCombined sources1
Isoform 2 (identifier: O75400-2)
Modified residuei17Omega-N-methylarginineCombined sources1
Modified residuei24Omega-N-methylarginineCombined sources1
Modified residuei47Omega-N-methylarginineCombined sources1
Isoform 5 (identifier: O75400-5)
Modified residuei17Omega-N-methylarginineCombined sources1
Modified residuei24Omega-N-methylarginineCombined sources1
Modified residuei47Omega-N-methylarginineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O75400

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O75400

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O75400

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O75400

PeptideAtlas

More...
PeptideAtlasi
O75400

PRoteomics IDEntifications database

More...
PRIDEi
O75400

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49972
49973 [O75400-2]
49974 [O75400-3]
49975 [O75400-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O75400

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O75400

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O75400

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
O75400

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the brain cortex (at protein level). Widely expressed.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000196504 Expressed in 242 organ(s), highest expression level in secondary oocyte

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O75400 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O75400 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038272
HPA038273

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with the N-terminus of HTT. Interacts with the phosphorylated C-terminal domain of POLR2A. Interacts with AKAP8L, SF1, SRPK1, CARD8, ATBF1 and MECP2 (By similarity). Interacts through the WW domains with formin proline-rich regions and with WASL/N-WASP (By similarity).By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120792, 196 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
O75400

Protein interaction database and analysis system

More...
IntActi
O75400, 103 interactors

Molecular INTeraction database

More...
MINTi
O75400

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000386458

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1957
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1UZCNMR-A381-450[»]
1YWINMR-A142-173[»]
1YWJNMR-A142-173[»]
1ZR7NMR-A146-173[»]
2CQNNMR-A743-806[»]
2DYFNMR-A146-173[»]
2KZGNMR-A381-450[»]
2L5FNMR-A133-220[»]
2L9VNMR-A381-450[»]
2LKSNMR-A391-439[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O75400

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O75400

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
O75400

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini140 – 173WW 1PROSITE-ProRule annotationAdd BLAST34
Domaini181 – 214WW 2PROSITE-ProRule annotationAdd BLAST34
Domaini393 – 447FF 1Add BLAST55
Domaini460 – 514FF 2Add BLAST55
Domaini527 – 587FF 3Add BLAST61
Domaini607 – 667FF 4Add BLAST61
Domaini672 – 727FF 5Add BLAST56
Domaini742 – 799FF 6Add BLAST58

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The WW domains are essential for localization to nuclear speckles.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the PRPF40 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0152 Eukaryota
COG5104 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00930000150980

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG059634

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O75400

KEGG Orthology (KO)

More...
KOi
K12821

Identification of Orthologs from Complete Genome Data

More...
OMAi
IWEDFIK

Database of Orthologous Groups

More...
OrthoDBi
1112854at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O75400

TreeFam database of animal gene trees

More...
TreeFami
TF318732

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00201 WW, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.10.440, 5 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002713 FF_domain
IPR036517 FF_domain_sf
IPR039726 Prp40/Urn1
IPR001202 WW_dom
IPR036020 WW_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR11864 PTHR11864, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01846 FF, 5 hits
PF00397 WW, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00441 FF, 5 hits
SM00456 WW, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51045 SSF51045, 2 hits
SSF81698 SSF81698, 5 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51676 FF, 6 hits
PS01159 WW_DOMAIN_1, 2 hits
PS50020 WW_DOMAIN_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75400-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRPGTGAERG GLMVSEMESH PPSQGPGDGE RRLSGSSLCS GSWVSADGFL
60 70 80 90 100
RRRPSMGHPG MHYAPMGMHP MGQRANMPPV PHGMMPQMMP PMGGPPMGQM
110 120 130 140 150
PGMMSSVMPG MMMSHMSQAS MQPALPPGVN SMDVAAGTAS GAKSMWTEHK
160 170 180 190 200
SPDGRTYYYN TETKQSTWEK PDDLKTPAEQ LLSKCPWKEY KSDSGKPYYY
210 220 230 240 250
NSQTKESRWA KPKELEDLEG YQNTIVAGSL ITKSNLHAMI KAEESSKQEE
260 270 280 290 300
CTTTSTAPVP TTEIPTTMST MAAAEAAAAV VAAAAAAAAA AAAANANAST
310 320 330 340 350
SASNTVSGTV PVVPEPEVTS IVATVVDNEN TVTISTEEQA QLTSTPAIQD
360 370 380 390 400
QSVEVSSNTG EETSKQETVA DFTPKKEEEE SQPAKKTYTW NTKEEAKQAF
410 420 430 440 450
KELLKEKRVP SNASWEQAMK MIINDPRYSA LAKLSEKKQA FNAYKVQTEK
460 470 480 490 500
EEKEEARSKY KEAKESFQRF LENHEKMTST TRYKKAEQMF GEMEVWNAIS
510 520 530 540 550
ERDRLEIYED VLFFLSKKEK EQAKQLRKRN WEALKNILDN MANVTYSTTW
560 570 580 590 600
SEAQQYLMDN PTFAEDEELQ NMDKEDALIC FEEHIRALEK EEEEEKQKSL
610 620 630 640 650
LRERRRQRKN RESFQIFLDE LHEHGQLHSM SSWMELYPTI SSDIRFTNML
660 670 680 690 700
GQPGSTALDL FKFYVEDLKA RYHDEKKIIK DILKDKGFVV EVNTTFEDFV
710 720 730 740 750
AIISSTKRST TLDAGNIKLA FNSLLEKAEA REREREKEEA RKMKRKESAF
760 770 780 790 800
KSMLKQAAPP IELDAVWEDI RERFVKEPAF EDITLESERK RIFKDFMHVL
810 820 830 840 850
EHECQHHHSK NKKHSKKSKK HHRKRSRSRS GSDSDDDDSH SKKKRQRSES
860 870 880 890 900
RSASEHSSSA ESERSYKKSK KHKKKSKKRR HKSDSPESDA EREKDKKEKD
910 920 930 940 950
RESEKDRTRQ RSESKHKSPK KKTGKDSGNW DTSGSELSEG ELEKRRRTLL

EQLDDDQ
Length:957
Mass (Da):108,805
Last modified:August 22, 2003 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8874D0C1CE1FCDAF
GO
Isoform 2 (identifier: O75400-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MCSGSGRRRSSLSPTM
     14-55: Missing.

Show »
Length:930
Mass (Da):105,927
Checksum:i6AFC2E30F4FAEB47
GO
Isoform 3 (identifier: O75400-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     220-237: Missing.

Show »
Length:939
Mass (Da):106,907
Checksum:i05527BF2FC5C9449
GO
Isoform 5 (identifier: O75400-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MCSGSGRRRSSLSPTM
     14-55: Missing.
     127-128: PG → LN
     129-957: Missing.

Note: Probable target of nonsense-mediated mRNA decay.Combined sources
Show »
Length:101
Mass (Da):10,697
Checksum:i2C254F75EDA2059D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H578F5H578_HUMAN
Pre-mRNA-processing factor 40 homol...
PRPF40A
448Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YG38H0YG38_HUMAN
Pre-mRNA-processing factor 40 homol...
PRPF40A
346Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C2N3H7C2N3_HUMAN
Pre-mRNA-processing factor 40 homol...
PRPF40A
163Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3F2YNY6A0A3F2YNY6_HUMAN
Pre-mRNA-processing factor 40 homol...
PRPF40A
994Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BXZ7H7BXZ7_HUMAN
Pre-mRNA-processing factor 40 homol...
PRPF40A
109Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC27501 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAC27502 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAC27506 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAD42862 differs from that shown. Reason: Frameshift at position 953.Curated
The sequence AAF36145 differs from that shown. Reason: Frameshift at several positions.Curated
The sequence AAH11788 differs from that shown. Contaminating sequence. Potential poly-A sequence starting in position 409.Curated
The sequence BAA91277 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15016 differs from that shown.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti372 – 373FT → LL in AAB93495 (Ref. 5) Curated2
Sequence conflicti433K → N in AAC27501 (PubMed:9700202).Curated1
Sequence conflicti433K → N in AAC27506 (PubMed:9700202).Curated1
Sequence conflicti787S → P in BAA91277 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0407811M → MCSGSGRRRSSLSPTM in isoform 2 and isoform 5. 3 Publications1
Alternative sequenceiVSP_00804714 – 55Missing in isoform 2 and isoform 5. 3 PublicationsAdd BLAST42
Alternative sequenceiVSP_040782127 – 128PG → LN in isoform 5. 1 Publication2
Alternative sequenceiVSP_040783129 – 957Missing in isoform 5. 1 PublicationAdd BLAST829
Alternative sequenceiVSP_008048220 – 237Missing in isoform 3. 1 PublicationAdd BLAST18

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AC012443 Genomic DNA No translation available.
AC079344 Genomic DNA No translation available.
AK000592 mRNA Translation: BAA91277.1 Different initiation.
AK024810 mRNA Translation: BAB15016.1 Sequence problems.
AF049523 mRNA Translation: AAC27501.1 Different initiation.
AF049524 mRNA Translation: AAC27502.1 Different initiation.
AF049528 mRNA Translation: AAC27506.1 Different initiation.
BC011788 mRNA Translation: AAH11788.1 Sequence problems.
BC027178 mRNA Translation: AAH27178.1
U70667 mRNA Translation: AAB93495.1
AF155096 mRNA Translation: AAD42862.1 Frameshift.
AF151059 mRNA Translation: AAF36145.1 Frameshift.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS46430.1 [O75400-2]

NCBI Reference Sequences

More...
RefSeqi
NP_060362.3, NM_017892.3 [O75400-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.643580

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000648940; ENSP00000497573; ENSG00000196504 [O75400-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55660

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55660

UCSC genome browser

More...
UCSCi
uc002tyh.5 human [O75400-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC012443 Genomic DNA No translation available.
AC079344 Genomic DNA No translation available.
AK000592 mRNA Translation: BAA91277.1 Different initiation.
AK024810 mRNA Translation: BAB15016.1 Sequence problems.
AF049523 mRNA Translation: AAC27501.1 Different initiation.
AF049524 mRNA Translation: AAC27502.1 Different initiation.
AF049528 mRNA Translation: AAC27506.1 Different initiation.
BC011788 mRNA Translation: AAH11788.1 Sequence problems.
BC027178 mRNA Translation: AAH27178.1
U70667 mRNA Translation: AAB93495.1
AF155096 mRNA Translation: AAD42862.1 Frameshift.
AF151059 mRNA Translation: AAF36145.1 Frameshift.
CCDSiCCDS46430.1 [O75400-2]
RefSeqiNP_060362.3, NM_017892.3 [O75400-2]
UniGeneiHs.643580

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1UZCNMR-A381-450[»]
1YWINMR-A142-173[»]
1YWJNMR-A142-173[»]
1ZR7NMR-A146-173[»]
2CQNNMR-A743-806[»]
2DYFNMR-A146-173[»]
2KZGNMR-A381-450[»]
2L5FNMR-A133-220[»]
2L9VNMR-A381-450[»]
2LKSNMR-A391-439[»]
ProteinModelPortaliO75400
SMRiO75400
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120792, 196 interactors
CORUMiO75400
IntActiO75400, 103 interactors
MINTiO75400
STRINGi9606.ENSP00000386458

Protein family/group databases

MoonDBiO75400 Predicted

PTM databases

iPTMnetiO75400
PhosphoSitePlusiO75400
SwissPalmiO75400

Polymorphism and mutation databases

BioMutaiPRPF40A

Proteomic databases

EPDiO75400
jPOSTiO75400
MaxQBiO75400
PaxDbiO75400
PeptideAtlasiO75400
PRIDEiO75400
ProteomicsDBi49972
49973 [O75400-2]
49974 [O75400-3]
49975 [O75400-5]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
55660
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000648940; ENSP00000497573; ENSG00000196504 [O75400-2]
GeneIDi55660
KEGGihsa:55660
UCSCiuc002tyh.5 human [O75400-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55660
DisGeNETi55660
EuPathDBiHostDB:ENSG00000196504.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PRPF40A
HGNCiHGNC:16463 PRPF40A
HPAiHPA038272
HPA038273
MIMi612941 gene
neXtProtiNX_O75400
OpenTargetsiENSG00000196504
PharmGKBiPA28195

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0152 Eukaryota
COG5104 LUCA
GeneTreeiENSGT00930000150980
HOVERGENiHBG059634
InParanoidiO75400
KOiK12821
OMAiIWEDFIK
OrthoDBi1112854at2759
PhylomeDBiO75400
TreeFamiTF318732

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway
SignaLinkiO75400

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PRPF40A human
EvolutionaryTraceiO75400

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PRPF40A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
55660
PMAP-CutDBiO75400

Protein Ontology

More...
PROi
PR:O75400

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000196504 Expressed in 242 organ(s), highest expression level in secondary oocyte
ExpressionAtlasiO75400 baseline and differential
GenevisibleiO75400 HS

Family and domain databases

CDDicd00201 WW, 2 hits
Gene3Di1.10.10.440, 5 hits
InterProiView protein in InterPro
IPR002713 FF_domain
IPR036517 FF_domain_sf
IPR039726 Prp40/Urn1
IPR001202 WW_dom
IPR036020 WW_dom_sf
PANTHERiPTHR11864 PTHR11864, 1 hit
PfamiView protein in Pfam
PF01846 FF, 5 hits
PF00397 WW, 2 hits
SMARTiView protein in SMART
SM00441 FF, 5 hits
SM00456 WW, 2 hits
SUPFAMiSSF51045 SSF51045, 2 hits
SSF81698 SSF81698, 5 hits
PROSITEiView protein in PROSITE
PS51676 FF, 6 hits
PS01159 WW_DOMAIN_1, 2 hits
PS50020 WW_DOMAIN_2, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPR40A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O75400
Secondary accession number(s): O43856
, O75404, Q8TBQ1, Q9H782, Q9NWU9, Q9P0Q2, Q9Y5A8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 22, 2003
Last sequence update: August 22, 2003
Last modified: February 13, 2019
This is version 186 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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