Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - P18583 (SON_HUMAN)

Entry version 201 (11 Dec 2019)
Sequence version 4 (18 May 2010)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Protein SON

Gene

SON

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

RNA-binding protein that acts as a mRNA splicing cofactor by promoting efficient splicing of transcripts that possess weak splice sites. Specifically promotes splicing of many cell-cycle and DNA-repair transcripts that possess weak splice sites, such as TUBG1, KATNB1, TUBGCP2, AURKB, PCNT, AKT1, RAD23A, and FANCG. Probably acts by facilitating the interaction between Serine/arginine-rich proteins such as SRSF2 and the RNA polymerase II. Also binds to DNA; binds to the consensus DNA sequence: 5'-GA[GT]AN[CG][AG]CC-3'. May indirectly repress hepatitis B virus (HBV) core promoter activity and transcription of HBV genes and production of HBV virions. Essential for correct RNA splicing of multiple genes critical for brain development, neuronal migration and metabolism, including TUBG1, FLNA, PNKP, WDR62, PSMD3, PCK2, PFKL, IDH2, and ACY1 (PubMed:27545680).3 Publications

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Molecular functionDNA-binding, RNA-binding
Biological processCell cycle, mRNA processing, mRNA splicing

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...SIGNORi		P18583

Protein family/group databases

Transport Classification Database

More...TCDBi		3.A.18.1.1 the nuclear mrna exporter (mrna-e) family

<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:
Protein SON
Alternative name(s):
Bax antagonist selected in saccharomyces 1
Short name:
BASS1
Negative regulatory element-binding protein
Short name:
NRE-binding protein
Protein DBP-5
SON3
<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:SON
Synonyms:C21orf50, DBP5, KIAA1019, NREBP
ORF Names:HSPC310, HSPC312
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 21

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000159140.17

Human Gene Nomenclature Database

More...HGNCi		HGNC:11183 SON

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		182465 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P18583

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

ZTTK syndrome (ZTTKS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized by intellectual disability, developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculo-skeletal abnormalities, and congenital malformations.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0778641637T → S in ZTTKS; unknown pathological significance; de novo mutation associated in cis with Y-1843. 1 Publication1
Natural variantiVAR_0778651843S → Y in ZTTKS; unknown pathological significance; de novo mutation associated in cis with S-1637. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		6651

MalaCards human disease database

More...MalaCardsi		SON
MIMi617140 phenotype

Open Targets

More...OpenTargetsi		ENSG00000159140

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36020

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P18583 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SON

Domain mapping of disease mutations (DMDM)

More...DMDMi		296453022

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00000720372 – 2426Protein SONAdd BLAST2425

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 residuei2N-acetylalanineCombined sources1
Modified residuei16N6-acetyllysineCombined 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-linki64Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei94PhosphoserineCombined sources1
Modified residuei142PhosphoserineCombined sources1
Modified residuei152PhosphoserineCombined sources1
Modified residuei154PhosphoserineCombined sources1
Modified residuei160PhosphoserineCombined sources1
Modified residuei283PhosphoserineCombined sources1
Modified residuei288N6-acetyllysineCombined sources1
Modified residuei400PhosphothreonineCombined sources1
Modified residuei950Omega-N-methylarginineCombined sources1
Modified residuei959PhosphothreonineCombined sources1
Modified residuei998PhosphoserineCombined sources1
Modified residuei1007Asymmetric dimethylarginineBy similarity1
Modified residuei1022Asymmetric dimethylarginineBy similarity1
Modified residuei1035PhosphoserineCombined sources1
Modified residuei1043PhosphoserineCombined sources1
Modified residuei1060PhosphoserineCombined sources1
Modified residuei1068PhosphoserineCombined sources1
Modified residuei1082PhosphoserineCombined sources1
Modified residuei1556PhosphoserineCombined sources1
Modified residuei1651PhosphoserineCombined sources1
Modified residuei1697PhosphoserineCombined sources1
Modified residuei1701PhosphoserineCombined sources1
Modified residuei1747PhosphoserineCombined sources1
Modified residuei1759PhosphoserineCombined sources1
Modified residuei1766PhosphoserineCombined sources1
Modified residuei1769PhosphoserineCombined sources1
Modified residuei1782PhosphoserineCombined sources1
Modified residuei1783PhosphoserineCombined sources1
Modified residuei1948PhosphoserineCombined sources1
Modified residuei1950PhosphoserineCombined sources1
Modified residuei1952PhosphoserineCombined sources1
Modified residuei2009PhosphoserineCombined sources1
Modified residuei2011PhosphoserineCombined sources1
Modified residuei2013PhosphoserineCombined sources1
Modified residuei2029PhosphoserineCombined sources1
Modified residuei2031PhosphoserineCombined sources1
Modified residuei2055N6-acetyllysine; alternateCombined sources1
Cross-linki2055Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki2092Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei2129PhosphoserineCombined sources1
Cross-linki2149Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei2163PhosphothreonineCombined sources1
Modified residuei2238PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P18583

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P18583

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P18583

MaxQB - The MaxQuant DataBase

More...MaxQBi		P18583

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

More...PaxDbi		P18583

PeptideAtlas

More...PeptideAtlasi		P18583

PRoteomics IDEntifications database

More...PRIDEi		P18583

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		53592 [P18583-1]
53593 [P18583-10]
53594 [P18583-2]
53595 [P18583-3]
53596 [P18583-4]
53597 [P18583-5]
53598 [P18583-6]
53599 [P18583-7]
53600 [P18583-8]
53601 [P18583-9]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P18583

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

More...PhosphoSitePlusi		P18583

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P18583

<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

Widely expressed, with the higher expression seen in leukocyte and heart.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000159140 Expressed in 244 organ(s), highest expression level in metanephros

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P18583 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P18583 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA023535
HPA031755
HPA031756

<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 SRSF2. Associates with the spliceosome.

Interacts with the AML1-MTG8 (AML1-ETO) fusion protein, possibly leading to trigger signals inhibiting leukemogenesis.

3 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112534, 90 interactors

Database of interacting proteins

More...DIPi		DIP-42289N

Protein interaction database and analysis system

More...IntActi		P18583, 39 interactors

Molecular INTeraction database

More...MINTi		P18583

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000348984

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P18583 protein

<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

3D structure databases

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

More...SMRi		P18583

Database of comparative protein structure models

More...ModBasei		Search...

<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 ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati1006 – 10111-16
Repeati1014 – 10191-26
Repeati1021 – 10261-36
Repeati1030 – 10351-46
Repeati1038 – 10431-56
Repeati1046 – 10511-66
Repeati1055 – 10601-76
Repeati1063 – 10681-86
Repeati1071 – 10761-96
Repeati1080 – 10851-106
Repeati1089 – 10941-116
Repeati1100 – 11051-126
Repeati1111 – 11161-136
Repeati1121 – 11261-146
Repeati1925 – 19312-17
Repeati1934 – 19523-1Add BLAST19
Repeati1953 – 19592-27
Repeati1960 – 19662-37
Repeati1967 – 19732-47
Repeati1974 – 19802-57
Repeati1981 – 19872-67
Repeati1988 – 19942-77
Repeati1995 – 20133-2Add BLAST19
<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>Domaini2305 – 2351G-patchPROSITE-ProRule annotationAdd BLAST47
Domaini2371 – 2426DRBMPROSITE-ProRule annotationAdd BLAST56

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni726 – 89517 X 10 AA tandem repeats of L-A-[ST]-[NSG]-[TS]-MDSQMAdd BLAST170
Regioni912 – 98811 X 7 AA tandem repeats of [DR]-P-Y-R-[LI][AG][QHP]Add BLAST77
Regioni1006 – 112614 X 6 AA repeats of [ED]-R-S-M-M-SAdd BLAST121
Regioni1147 – 11793 X 11 AA tandem repats of P-P-L-P-P-E-E-P-P-[TME]-[MTG]Add BLAST33
Regioni1359 – 13904 X 8 AA tandem repeats of V-L-E-SS-[AVT]-VTAdd BLAST32
Regioni1925 – 19947 X 7 AA repeats of P-S-R-R-S-R-[TS]Add BLAST70
Regioni1934 – 20132 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V-V-R-R-R-S-F-S-I-SAdd BLAST80
Regioni2013 – 20393 X tandem repeats of [ST]-P-[VLI]-R-[RL]-[RK]-[RF]-S-RAdd BLAST27

<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

Contains 8 types of repeats which are distributed in 3 regions.

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IEDZ Eukaryota
ENOG410ZUK5 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00730000111141

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P18583

KEGG Orthology (KO)

More...KOi		K23718

Identification of Orthologs from Complete Genome Data

More...OMAi		LTPNCMF

Database of Orthologous Groups

More...OrthoDBi		30934at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P18583

TreeFam database of animal gene trees

More...TreeFami		TF330344

Family and domain databases

Conserved Domains Database

More...CDDi		cd00048 DSRM, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR014720 dsRBD_dom
IPR000467 G_patch_dom
IPR032922 SON
IPR036322 WD40_repeat_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR46528 PTHR46528, 2 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01585 G-patch, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00443 G_patch, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50978 SSF50978, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50137 DS_RBD, 1 hit
PS50174 G_PATCH, 1 hit

<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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (10+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 10 <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
Note: Experimental confirmation may be lacking for some isoforms.

This entry has 10 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform F (identifier: P18583-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MATNIEQIFR SFVVSKFREI QQELSSGRNE GQLNGETNTP IEGNQAGDAA 
        60         70         80         90        100
ASARSLPNEE IVQKIEEVLS GVLDTELRYK PDLKEGSRKS RCVSVQTDPT 
       110        120        130        140        150
DEIPTKKSKK HKKHKNKKKK KKKEKEKKYK RQPEESESKT KSHDDGNIDL 
       160        170        180        190        200
ESDSFLKFDS EPSAVALELP TRAFGPSETN ESPAVVLEPP VVSMEVSEPH 
       210        220        230        240        250
ILETLKPATK TAELSVVSTS VISEQSEQSV AVMPEPSMTK ILDSFAAAPV 
       260        270        280        290        300
PTTTLVLKSS EPVVTMSVEY QMKSVLKSVE STSPEPSKIM LVEPPVAKVL 
       310        320        330        340        350
EPSETLVVSS ETPTEVYPEP STSTTMDFPE SSAIEALRLP EQPVDVPSEI 
       360        370        380        390        400
ADSSMTRPQE LPELPKTTAL ELQESSVASA MELPGPPATS MPELQGPPVT 
       410        420        430        440        450
PVLELPGPSA TPVPELPGPL STPVPELPGP PATAVPELPG PSVTPVPQLS 
       460        470        480        490        500
QELPGLPAPS MGLEPPQEVP EPPVMAQELP GLPLVTAAVE LPEQPAVTVA 
       510        520        530        540        550
MELTEQPVTT TELEQPVGMT TVEHPGHPEV TTATGLLGQP EATMVLELPG 
       560        570        580        590        600
QPVATTALEL PGQPSVTGVP ELPGLPSATR ALELSGQPVA TGALELPGPL 
       610        620        630        640        650
MAAGALEFSG QSGAAGALEL LGQPLATGVL ELPGQPGAPE LPGQPVATVA 
       660        670        680        690        700
LEISVQSVVT TSELSTMTVS QSLEVPSTTA LESYNTVAQE LPTTLVGETS 
       710        720        730        740        750
VTVGVDPLMA PESHILASNT METHILASNT MDSQMLASNT MDSQMLASNT 
       760        770        780        790        800
MDSQMLASST MDSQMLATSS MDSQMLATSS MDSQMLATST MDSQMLATSS 
       810        820        830        840        850
MDSQMLATSS MDSQMLATSS MDSQMLATSS MDSQMLATST MDSQMLATST 
       860        870        880        890        900
MDSQMLATSS MDSQMLASGT MDSQMLASGT MDAQMLASGT MDAQMLASST 
       910        920        930        940        950
QDSAMLGSKS PDPYRLAQDP YRLAQDPYRL GHDPYRLGHD AYRLGQDPYR 
       960        970        980        990       1000
LGHDPYRLTP DPYRMSPRPY RIAPRSYRIA PRPYRLAPRP LMLASRRSMM 
      1010       1020       1030       1040       1050
MSYAAERSMM SSYERSMMSY ERSMMSPMAE RSMMSAYERS MMSAYERSMM 
      1060       1070       1080       1090       1100
SPMAERSMMS AYERSMMSAY ERSMMSPMAD RSMMSMGADR SMMSSYSAAD 
      1110       1120       1130       1140       1150
RSMMSSYSAA DRSMMSSYTA DRSMMSMAAD SYTDSYTDTY TEAYMVPPLP 
      1160       1170       1180       1190       1200
PEEPPTMPPL PPEEPPMTPP LPPEEPPEGP ALPTEQSALT AENTWPTEVP 
      1210       1220       1230       1240       1250
SSPSEESVSQ PEPPVSQSEI SEPSAVPTDY SVSASDPSVL VSEAAVTVPE 
      1260       1270       1280       1290       1300
PPPEPESSIT LTPVESAVVA EEHEVVPERP VTCMVSETPA MSAEPTVLAS 
      1310       1320       1330       1340       1350
EPPVMSETAE TFDSMRASGH VASEVSTSLL VPAVTTPVLA ESILEPPAMA 
      1360       1370       1380       1390       1400
APESSAMAVL ESSAVTVLES STVTVLESST VTVLEPSVVT VPEPPVVAEP 
      1410       1420       1430       1440       1450
DYVTIPVPVV SALEPSVPVL EPAVSVLQPS MIVSEPSVSV QESTVTVSEP 
      1460       1470       1480       1490       1500
AVTVSEQTQV IPTEVAIEST PMILESSIMS SHVMKGINLS SGDQNLAPEI 
      1510       1520       1530       1540       1550
GMQEIALHSG EEPHAEEHLK GDFYESEHGI NIDLNINNHL IAKEMEHNTV 
      1560       1570       1580       1590       1600
CAAGTSPVGE IGEEKILPTS ETKQRTVLDT YPGVSEADAG ETLSSTGPFA 
      1610       1620       1630       1640       1650
LEPDATGTSK GIEFTTASTL SLVNKYDVDL SLTTQDTEHD MVISTSPSGG 
      1660       1670       1680       1690       1700
SEADIEGPLP AKDIHLDLPS NNNLVSKDTE EPLPVKESDQ TLAALLSPKE 
      1710       1720       1730       1740       1750
SSGGEKEVPP PPKETLPDSG FSANIEDINE ADLVRPLLPK DMERLTSLRA 
      1760       1770       1780       1790       1800
GIEGPLLASD VGRDRSAASP VVSSMPERAS ESSSEEKDDY EIFVKVKDTH 
      1810       1820       1830       1840       1850
EKSKKNKNRD KGEKEKKRDS SLRSRSKRSK SSEHKSRKRT SESRSRARKR 
      1860       1870       1880       1890       1900
SSKSKSHRSQ TRSRSRSRRR RRSSRSRSKS RGRRSVSKEK RKRSPKHRSK 
      1910       1920       1930       1940       1950
SRERKRKRSS SRDNRKTVRA RSRTPSRRSR SHTPSRRRRS RSVGRRRSFS 
      1960       1970       1980       1990       2000
ISPSRRSRTP SRRSRTPSRR SRTPSRRSRT PSRRSRTPSR RSRTPSRRRR 
      2010       2020       2030       2040       2050
SRSVVRRRSF SISPVRLRRS RTPLRRRFSR SPIRRKRSRS SERGRSPKRL 
      2060       2070       2080       2090       2100
TDLDKAQLLE IAKANAAAMC AKAGVPLPPN LKPAPPPTIE EKVAKKSGGA 
      2110       2120       2130       2140       2150
TIEELTEKCK QIAQSKEDDD VIVNKPHVSD EEEEEPPFYH HPFKLSEPKP 
      2160       2170       2180       2190       2200
IFFNLNIAAA KPTPPKSQVT LTKEFPVSSG SQHRKKEADS VYGEWVPVEK 
      2210       2220       2230       2240       2250
NGEENKDDDN VFSSNLPSEP VDISTAMSER ALAQKRLSEN AFDLEAMSML 
      2260       2270       2280       2290       2300
NRAQERIDAW AQLNSIPGQF TGSTGVQVLT QEQLANTGAQ AWIKKDQFLR 
      2310       2320       2330       2340       2350
AAPVTGGMGA VLMRKMGWRE GEGLGKNKEG NKEPILVDFK TDRKGLVAVG 
      2360       2370       2380       2390       2400
ERAQKRSGNF SAAMKDLSGK HPVSALMEIC NKRRWQPPEF LLVHDSGPDH 
      2410       2420 
RKHFLFRVLR NGALTRPNCM FFLNRY
Length:2,426
Mass (Da):263,830
Last modified:May 18, 2010 - v4
<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:iAE53B1157A37657D
GO
Isoform A (identifier: P18583-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     687-687: V → Q
     688-1006: Missing.
     2410-2426: RNGALTRPNCMFFLNRY → INGSAYQPSFASPNKKHAKATAATVVLQAMGLVPKDLMANATCFRSASRR

Show »
Length:2,140
Mass (Da):232,307
Checksum:iADE72D9D269A914D
GO
Isoform B (identifier: P18583-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2220-2303: PVDISTAMSE...KKDQFLRAAP → GRVKRQGRVR...SRLYSSRFWW
     2304-2426: Missing.

Show »
Length:2,303
Mass (Da):250,388
Checksum:iC417A8F16219C1E1
GO
Isoform C (identifier: P18583-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2296-2325: DQFLRAAPVTGGMGAVLMRKMGWREGEGLG → GQILVAVFLPRSVPAVLFTTLLLPRPRISS
     2326-2426: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:2,325
Mass (Da):252,254
Checksum:iDEB57EC4B540649C
GO
Isoform D (identifier: P18583-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2410-2426: RNGALTRPNCMFFLNRY → INGSAYQPSFASPNKKHAKATAATVVLQAMGLVPKDLMANATCFRSASRR

Show »
Length:2,459
Mass (Da):267,035
Checksum:i1C16840BD08A27F7
GO
Isoform E (identifier: P18583-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2108-2108: K → F
     2109-2426: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:2,108
Mass (Da):228,181
Checksum:iC1546DDB5FFDBB5E
GO
Isoform G (identifier: P18583-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     748-787: Missing.

Show »
Length:2,386
Mass (Da):259,594
Checksum:iD8DD6D8C39863B51
GO
Isoform H (identifier: P18583-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     687-689: VAQ → NVP
     690-2416: Missing.

Show »
Length:699
Mass (Da):73,884
Checksum:i38D999DC96C00502
GO
Isoform I (identifier: P18583-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     770-770: S → SMDSQMLASNTMDSQMLASNTMDSQMLASSTMDSQMLATSS

Show »
Length:2,466
Mass (Da):268,093
Checksum:i0BCC85FEA1FACFBE
GO
Isoform J (identifier: P18583-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2257-2282: IDAWAQLNSIPGQFTGSTGVQVLTQE → VCSSFLKKIIIYHQPTHTNVPVLMSK
     2283-2426: Missing.

Show »
Length:2,282
Mass (Da):247,823
Checksum:iE3951A6A0E3C5DED
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
H7C1M2H7C1M2_HUMAN
Protein SON
SON
1,454Annotation score:

Annotation score:2 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>
J3QSZ5J3QSZ5_HUMAN
Protein SON
SON
454Annotation 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>
H7C2G8H7C2G8_HUMAN
Protein SON
SON
343Annotation 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>
H7C1S4H7C1S4_HUMAN
Protein SON
SON
92Annotation 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>
H7C257H7C257_HUMAN
Protein SON
SON
97Annotation 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 AAH02422 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAA82971 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence CAA44793 differs from that shown. Reason: Frameshift.Curated
The sequence CAC69885 differs from that shown. Contaminating sequence. Sequence of unknown origin in the N-terminal part.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 conflicti126E → K in BAB14985 (PubMed:14702039).Curated1
Sequence conflicti129Y → K in BAB14985 (PubMed:14702039).Curated1
Sequence conflicti1402Y → S in CAA45282 (PubMed:1435773).Curated1
Sequence conflicti1495N → I in CAA45282 (PubMed:1435773).Curated1
Sequence conflicti1538N → S in CAA45282 (PubMed:1435773).Curated1
Sequence conflicti1643I → II in CAA45282 (PubMed:1435773).Curated1
Sequence conflicti1692L → I in CAA45282 (PubMed:1435773).Curated1
Sequence conflicti1693A → R in AAA36624 (PubMed:3054499).Curated1
Sequence conflicti1820 – 1821SS → PH in CAA45282 (PubMed:1435773).Curated2
Sequence conflicti1820 – 1821SS → PH in AAA36624 (PubMed:3054499).Curated2
Sequence conflicti1939R → S in AAD50078 (PubMed:10509013).Curated1
Sequence conflicti2090E → V in AAK07692 (PubMed:11306577).Curated1
Sequence conflicti2090E → V in CAA45282 (PubMed:1435773).Curated1
Sequence conflicti2148P → F in AAK07692 (PubMed:11306577).Curated1
Sequence conflicti2148P → F in CAA45282 (PubMed:1435773).Curated1
Sequence conflicti2413 – 2416ALTR → SPYQ in AAK07692 (PubMed:11306577).Curated4

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065456473P → S6 PublicationsCorresponds to variant dbSNP:rs35622138Ensembl.1
Natural variantiVAR_065457555T → M. Corresponds to variant dbSNP:rs13049658Ensembl.1
Natural variantiVAR_056990870T → A. Corresponds to variant dbSNP:rs11908823Ensembl.1
Natural variantiVAR_0654581202S → L5 PublicationsCorresponds to variant dbSNP:rs13433428Ensembl.1
Natural variantiVAR_0569911575R → C3 PublicationsCorresponds to variant dbSNP:rs13047599Ensembl.1
Natural variantiVAR_0778641637T → S in ZTTKS; unknown pathological significance; de novo mutation associated in cis with Y-1843. 1 Publication1
Natural variantiVAR_0778651843S → Y in ZTTKS; unknown pathological significance; de novo mutation associated in cis with S-1637. 1 Publication1

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_004411687 – 689VAQ → NVP in isoform H. 1 Publication3
Alternative sequenceiVSP_004401687V → Q in isoform A. 3 Publications1
Alternative sequenceiVSP_004402688 – 1006Missing in isoform A. 3 PublicationsAdd BLAST319
Alternative sequenceiVSP_004412690 – 2416Missing in isoform H. 1 PublicationAdd BLAST1727
Alternative sequenceiVSP_004410748 – 787Missing in isoform G. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_004413770S → SMDSQMLASNTMDSQMLASN TMDSQMLASSTMDSQMLATS S in isoform I. 1 Publication1
Alternative sequenceiVSP_0044082108K → F in isoform E. 1 Publication1
Alternative sequenceiVSP_0044092109 – 2426Missing in isoform E. 1 PublicationAdd BLAST318
Alternative sequenceiVSP_0044042220 – 2303PVDIS…LRAAP → GRVKRQGRVRRQMKQPAASH LTVTRCNSLCGTKPQSEKHR IAENSVITSLPNIGPSLHLW EGSPRYNYLASRFASRLYSS RFWW in isoform B. 2 PublicationsAdd BLAST84
Alternative sequenceiVSP_0044142257 – 2282IDAWA…VLTQE → VCSSFLKKIIIYHQPTHTNV PVLMSK in isoform J. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_0044152283 – 2426Missing in isoform J. 1 PublicationAdd BLAST144
Alternative sequenceiVSP_0044062296 – 2325DQFLR…GEGLG → GQILVAVFLPRSVPAVLFTT LLLPRPRISS in isoform C. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_0044052304 – 2426Missing in isoform B. 2 PublicationsAdd BLAST123
Alternative sequenceiVSP_0044072326 – 2426Missing in isoform C. 1 PublicationAdd BLAST101
Alternative sequenceiVSP_0044032410 – 2426RNGAL…FLNRY → INGSAYQPSFASPNKKHAKA TAATVVLQAMGLVPKDLMAN ATCFRSASRR in isoform A and isoform D. 3 PublicationsAdd BLAST17

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
AF380179 mRNA Translation: AAL34497.1
AF380180 mRNA Translation: AAL34498.1
AF380181 mRNA Translation: AAL34499.1
AF380182 mRNA Translation: AAL34500.1
AF380183 mRNA Translation: AAL34501.1
AF380184 mRNA Translation: AAL34502.1
AY026895 mRNA Translation: AAK07692.1
AB028942 mRNA Translation: BAA82971.2 Different initiation.
AP000303 Genomic DNA No translation available.
AP000304 Genomic DNA No translation available.
CH471079 Genomic DNA Translation: EAX09814.1
CH471079 Genomic DNA Translation: EAX09818.1
CH471079 Genomic DNA Translation: EAX09821.1
CH471079 Genomic DNA Translation: EAX09823.1
AF435977 mRNA Translation: AAL30810.1
AK024752 mRNA Translation: BAB14985.1
AF161428 mRNA Translation: AAF28988.1
AF161430 mRNA Translation: AAF28990.1
BC002422 mRNA Translation: AAH02422.1 Sequence problems.
X63751 mRNA Translation: CAC69885.1 Sequence problems.
X63753 mRNA Translation: CAA45282.1
X63071 mRNA Translation: CAA44793.1 Frameshift.
M36428 Genomic DNA Translation: AAA36624.1
AF139897 mRNA Translation: AAD50078.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13629.1 [P18583-1]
CCDS13631.1 [P18583-3]
CCDS74784.1 [P18583-6]

Protein sequence database of the Protein Information Resource

More...PIRi		S26650

NCBI Reference Sequences

More...RefSeqi		NP_001278340.1, NM_001291411.1
NP_001278341.1, NM_001291412.1
NP_115571.2, NM_032195.2
NP_620305.2, NM_138927.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000300278; ENSP00000300278; ENSG00000159140 [P18583-3]
ENST00000356577; ENSP00000348984; ENSG00000159140 [P18583-1]
ENST00000381679; ENSP00000371095; ENSG00000159140 [P18583-6]
ENST00000455528; ENSP00000399783; ENSG00000159140 [P18583-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6651

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6651

UCSC genome browser

More...UCSCi		uc002ysc.5 human [P18583-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AF380179 mRNA Translation: AAL34497.1
AF380180 mRNA Translation: AAL34498.1
AF380181 mRNA Translation: AAL34499.1
AF380182 mRNA Translation: AAL34500.1
AF380183 mRNA Translation: AAL34501.1
AF380184 mRNA Translation: AAL34502.1
AY026895 mRNA Translation: AAK07692.1
AB028942 mRNA Translation: BAA82971.2 Different initiation.
AP000303 Genomic DNA No translation available.
AP000304 Genomic DNA No translation available.
CH471079 Genomic DNA Translation: EAX09814.1
CH471079 Genomic DNA Translation: EAX09818.1
CH471079 Genomic DNA Translation: EAX09821.1
CH471079 Genomic DNA Translation: EAX09823.1
AF435977 mRNA Translation: AAL30810.1
AK024752 mRNA Translation: BAB14985.1
AF161428 mRNA Translation: AAF28988.1
AF161430 mRNA Translation: AAF28990.1
BC002422 mRNA Translation: AAH02422.1 Sequence problems.
X63751 mRNA Translation: CAC69885.1 Sequence problems.
X63753 mRNA Translation: CAA45282.1
X63071 mRNA Translation: CAA44793.1 Frameshift.
M36428 Genomic DNA Translation: AAA36624.1
AF139897 mRNA Translation: AAD50078.1
CCDSiCCDS13629.1 [P18583-1]
CCDS13631.1 [P18583-3]
CCDS74784.1 [P18583-6]
PIRiS26650
RefSeqiNP_001278340.1, NM_001291411.1
NP_001278341.1, NM_001291412.1
NP_115571.2, NM_032195.2
NP_620305.2, NM_138927.2

3D structure databases

SMRiP18583
ModBaseiSearch...

Protein-protein interaction databases

BioGridi112534, 90 interactors
DIPiDIP-42289N
IntActiP18583, 39 interactors
MINTiP18583
STRINGi9606.ENSP00000348984

Protein family/group databases

TCDBi3.A.18.1.1 the nuclear mrna exporter (mrna-e) family

PTM databases

iPTMnetiP18583
PhosphoSitePlusiP18583
SwissPalmiP18583

Polymorphism and mutation databases

BioMutaiSON
DMDMi296453022

Proteomic databases

EPDiP18583
jPOSTiP18583
MassIVEiP18583
MaxQBiP18583
PaxDbiP18583
PeptideAtlasiP18583
PRIDEiP18583
ProteomicsDBi53592 [P18583-1]
53593 [P18583-10]
53594 [P18583-2]
53595 [P18583-3]
53596 [P18583-4]
53597 [P18583-5]
53598 [P18583-6]
53599 [P18583-7]
53600 [P18583-8]
53601 [P18583-9]

Genome annotation databases

EnsembliENST00000300278; ENSP00000300278; ENSG00000159140 [P18583-3]
ENST00000356577; ENSP00000348984; ENSG00000159140 [P18583-1]
ENST00000381679; ENSP00000371095; ENSG00000159140 [P18583-6]
ENST00000455528; ENSP00000399783; ENSG00000159140 [P18583-4]
GeneIDi6651
KEGGihsa:6651
UCSCiuc002ysc.5 human [P18583-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6651
DisGeNETi6651
EuPathDBiHostDB:ENSG00000159140.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		SON
HGNCiHGNC:11183 SON
HPAiHPA023535
HPA031755
HPA031756
MalaCardsiSON
MIMi182465 gene
617140 phenotype
neXtProtiNX_P18583
OpenTargetsiENSG00000159140
Orphaneti500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
PharmGKBiPA36020

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IEDZ Eukaryota
ENOG410ZUK5 LUCA
GeneTreeiENSGT00730000111141
InParanoidiP18583
KOiK23718
OMAiLTPNCMF
OrthoDBi30934at2759
PhylomeDBiP18583
TreeFamiTF330344

Enzyme and pathway databases

SIGNORiP18583

Miscellaneous databases

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

More...ChiTaRSi		SON human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SON

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

More...GenomeRNAii		6651
PharosiP18583 Tbio

Protein Ontology

More...PROi		PR:P18583
RNActiP18583 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000159140 Expressed in 244 organ(s), highest expression level in metanephros
ExpressionAtlasiP18583 baseline and differential
GenevisibleiP18583 HS

Family and domain databases

CDDicd00048 DSRM, 1 hit
InterProiView protein in InterPro
IPR014720 dsRBD_dom
IPR000467 G_patch_dom
IPR032922 SON
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR46528 PTHR46528, 2 hits
PfamiView protein in Pfam
PF01585 G-patch, 1 hit
SMARTiView protein in SMART
SM00443 G_patch, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50137 DS_RBD, 1 hit
PS50174 G_PATCH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiSON_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: P18583
Secondary accession number(s): D3DSF5
, D3DSF6, E7ETE8, E7EU67, E7EVW3, E9PFQ2, O14487, O95981, Q14120, Q6PKE0, Q9H7B1, Q9P070, Q9P072, Q9UKP9, Q9UPY0
<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: November 1, 1990
Last sequence update: May 18, 2010
Last modified: December 11, 2019
This is version 201 of the entry and version 4 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

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again