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Entry version 141 (16 Oct 2019)
Sequence version 1 (01 Dec 2001)
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Protein

RING finger and SPRY domain-containing protein 1

Gene

RSPRY1

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

Annotation score:3 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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri527 – 562RING-typePROSITE-ProRule annotationAdd BLAST36

<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

LigandMetal-binding, Zinc

<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:
RING finger and SPRY domain-containing protein 1
<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:RSPRY1
Synonyms:KIAA1972
ORF Names:UNQ328/PRO444
<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 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29420 RSPRY1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
616585 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96DX4

<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

Secreted

<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

Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type (SEMDFA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive skeletal disorder characterized by spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability.
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_07587341G → C in SEMDFA. 1 PublicationCorresponds to variant dbSNP:rs864309652EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
89970

MalaCards human disease database

More...
MalaCardsi
RSPRY1
MIMi616723 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000159579

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

More...
Orphaneti
457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA143485602

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96DX4

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RSPRY1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74731506

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 16Sequence analysisAdd BLAST16
<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_000027878617 – 576RING finger and SPRY domain-containing protein 1Add BLAST560

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 residuei50PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi314N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96DX4

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96DX4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q96DX4

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96DX4

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

More...
PaxDbi
Q96DX4

PeptideAtlas

More...
PeptideAtlasi
Q96DX4

PRoteomics IDEntifications database

More...
PRIDEi
Q96DX4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
76332 [Q96DX4-1]
76333 [Q96DX4-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96DX4

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

More...
PhosphoSitePlusi
Q96DX4

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q96DX4

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000159579 Expressed in 207 organ(s), highest expression level in nasal cavity epithelium

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96DX4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96DX4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA003729

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
124650, 52 interactors

Protein interaction database and analysis system

More...
IntActi
Q96DX4, 41 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000443176

<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
Q96DX4

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 <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>Domaini300 – 483B30.2/SPRYPROSITE-ProRule annotationAdd BLAST184

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri527 – 562RING-typePROSITE-ProRule annotationAdd BLAST36

Keywords - Domaini

Signal, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IR1Y Eukaryota
ENOG410XS5T LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157894

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000261619

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96DX4

KEGG Orthology (KO)

More...
KOi
K23332

Identification of Orthologs from Complete Genome Data

More...
OMAi
RVRQISH

Database of Orthologous Groups

More...
OrthoDBi
1005747at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96DX4

TreeFam database of animal gene trees

More...
TreeFami
TF313546

Family and domain databases

Conserved Domains Database

More...
CDDi
cd12883 SPRY_RING, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016024 ARM-type_fold
IPR001870 B30.2/SPRY
IPR013320 ConA-like_dom_sf
IPR003877 SPRY_dom
IPR035774 SPRY_RSPRY1
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00622 SPRY, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00184 RING, 1 hit
SM00449 SPRY, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371 SSF48371, 1 hit
SSF49899 SSF49899, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50188 B302_SPRY, 1 hit
PS50089 ZF_RING_2, 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 (2+)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 2 <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 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96DX4-1) [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
MIVFGWAVFL ASRSLGQGLL LTLEEHIAHF LGTGGAATTM GNSCICRDDS
60 70 80 90 100
GTDDSVDTQQ QQAENSAVPT ADTRSQPRDP VRPPRRGRGP HEPRRKKQNV
110 120 130 140 150
DGLVLDTLAV IRTLVDNDQE PPYSMITLHE MAETDEGWLD VVQSLIRVIP
160 170 180 190 200
LEDPLGPAVI TLLLDECPLP TKDALQKLTE ILNLNGEVAC QDSSHPAKHR
210 220 230 240 250
NTSAVLGCLA EKLAGPASIG LLSPGILEYL LQCLKLQSHP TVMLFALIAL
260 270 280 290 300
EKFAQTSENK LTISESSISD RLVTLESWAN DPDYLKRQVG FCAQWSLDNL
310 320 330 340 350
FLKEGRQLTY EKVNLSSIRA MLNSNDVSEY LKISPHGLEA RCDASSFESV
360 370 380 390 400
RCTFCVDAGV WYYEVTVVTS GVMQIGWATR DSKFLNHEGY GIGDDEYSCA
410 420 430 440 450
YDGCRQLIWY NARSKPHIHP CWKEGDTVGF LLDLNEKQMI FFLNGNQLPP
460 470 480 490 500
EKQVFSSTVS GFFAAASFMS YQQCEFNFGA KPFKYPPSMK FSTFNDYAFL
510 520 530 540 550
TAEEKIILPR HRRLALLKQV SIRENCCSLC CDEVADTQLK PCGHSDLCMD
560 570
CALQLETCPL CRKEIVSRIR QISHIS
Length:576
Mass (Da):64,180
Last modified:December 1, 2001 - v1
<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:i8598E43E96691F9B
GO
Isoform 2 (identifier: Q96DX4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     117-117: N → K
     118-576: Missing.

Show »
Length:117
Mass (Da):12,692
Checksum:iEBC0405D645D7D92
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BQQ7H3BQQ7_HUMAN
RING finger and SPRY domain-contain...
RSPRY1
121Annotation 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>
H3BPL2H3BPL2_HUMAN
RING finger and SPRY domain-contain...
RSPRY1
172Annotation 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>
H3BSC7H3BSC7_HUMAN
RING finger and SPRY domain-contain...
RSPRY1
146Annotation 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>
H3BQG6H3BQG6_HUMAN
RING finger and SPRY domain-contain...
RSPRY1
45Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07587341G → C in SEMDFA. 1 PublicationCorresponds to variant dbSNP:rs864309652EnsemblClinVar.1

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_023382117N → K in isoform 2. 1 Publication1
Alternative sequenceiVSP_023383118 – 576Missing in isoform 2. 1 PublicationAdd BLAST459

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
AB075852 mRNA Translation: BAB85558.1
AY358548 mRNA Translation: AAQ88912.1
AK172845 mRNA Translation: BAD18809.1
BC013173 mRNA Translation: AAH13173.1
AL834402 mRNA Translation: CAD39064.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10775.1 [Q96DX4-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001292092.1, NM_001305163.1 [Q96DX4-1]
NP_001292093.1, NM_001305164.1 [Q96DX4-1]
NP_001292111.1, NM_001305182.1 [Q96DX4-2]
NP_588609.1, NM_133368.2 [Q96DX4-1]
XP_005256277.1, XM_005256220.1 [Q96DX4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000394420; ENSP00000377942; ENSG00000159579 [Q96DX4-1]
ENST00000537866; ENSP00000443176; ENSG00000159579 [Q96DX4-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
89970

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:89970

UCSC genome browser

More...
UCSCi
uc002elb.4 human [Q96DX4-1]

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
AB075852 mRNA Translation: BAB85558.1
AY358548 mRNA Translation: AAQ88912.1
AK172845 mRNA Translation: BAD18809.1
BC013173 mRNA Translation: AAH13173.1
AL834402 mRNA Translation: CAD39064.1
CCDSiCCDS10775.1 [Q96DX4-1]
RefSeqiNP_001292092.1, NM_001305163.1 [Q96DX4-1]
NP_001292093.1, NM_001305164.1 [Q96DX4-1]
NP_001292111.1, NM_001305182.1 [Q96DX4-2]
NP_588609.1, NM_133368.2 [Q96DX4-1]
XP_005256277.1, XM_005256220.1 [Q96DX4-1]

3D structure databases

SMRiQ96DX4
ModBaseiSearch...

Protein-protein interaction databases

BioGridi124650, 52 interactors
IntActiQ96DX4, 41 interactors
STRINGi9606.ENSP00000443176

PTM databases

iPTMnetiQ96DX4
PhosphoSitePlusiQ96DX4
SwissPalmiQ96DX4

Polymorphism and mutation databases

BioMutaiRSPRY1
DMDMi74731506

Proteomic databases

EPDiQ96DX4
jPOSTiQ96DX4
MassIVEiQ96DX4
MaxQBiQ96DX4
PaxDbiQ96DX4
PeptideAtlasiQ96DX4
PRIDEiQ96DX4
ProteomicsDBi76332 [Q96DX4-1]
76333 [Q96DX4-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
89970

Genome annotation databases

EnsembliENST00000394420; ENSP00000377942; ENSG00000159579 [Q96DX4-1]
ENST00000537866; ENSP00000443176; ENSG00000159579 [Q96DX4-1]
GeneIDi89970
KEGGihsa:89970
UCSCiuc002elb.4 human [Q96DX4-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
89970
DisGeNETi89970

GeneCards: human genes, protein and diseases

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GeneCardsi
RSPRY1
HGNCiHGNC:29420 RSPRY1
HPAiHPA003729
MalaCardsiRSPRY1
MIMi616585 gene
616723 phenotype
neXtProtiNX_Q96DX4
OpenTargetsiENSG00000159579
Orphaneti457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
PharmGKBiPA143485602

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IR1Y Eukaryota
ENOG410XS5T LUCA
GeneTreeiENSGT00940000157894
HOGENOMiHOG000261619
InParanoidiQ96DX4
KOiK23332
OMAiRVRQISH
OrthoDBi1005747at2759
PhylomeDBiQ96DX4
TreeFamiTF313546

Miscellaneous databases

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

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ChiTaRSi
RSPRY1 human

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

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GenomeRNAii
89970
PharosiQ96DX4

Protein Ontology

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PROi
PR:Q96DX4

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000159579 Expressed in 207 organ(s), highest expression level in nasal cavity epithelium
ExpressionAtlasiQ96DX4 baseline and differential
GenevisibleiQ96DX4 HS

Family and domain databases

CDDicd12883 SPRY_RING, 1 hit
Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR001870 B30.2/SPRY
IPR013320 ConA-like_dom_sf
IPR003877 SPRY_dom
IPR035774 SPRY_RSPRY1
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF00622 SPRY, 1 hit
SMARTiView protein in SMART
SM00184 RING, 1 hit
SM00449 SPRY, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
SSF49899 SSF49899, 1 hit
PROSITEiView protein in PROSITE
PS50188 B302_SPRY, 1 hit
PS50089 ZF_RING_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiRSPRY_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: Q96DX4
Secondary accession number(s): Q6UX21, Q8ND53
<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: February 20, 2007
Last sequence update: December 1, 2001
Last modified: October 16, 2019
This is version 141 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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