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Entry version 122 (11 Dec 2019)
Sequence version 2 (23 Oct 2007)
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Protein

Protein dispatched homolog 3

Gene

DISP3

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 transcript 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

Plays a role in neuronal proliferation and differentiation (PubMed:25281927). Plays a role in the accumulation of cellular cholesterol (By similarity). Involved in intracellular lipid droplet formation (PubMed:25281927). May contribute to cholesterol homeostasis in neuronal cells (By similarity).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 - 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 processCholesterol metabolism, Differentiation, Lipid metabolism, Steroid metabolism, Sterol metabolism

Enzyme and pathway databases

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

More...
SignaLinki
Q9P2K9

<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 dispatched homolog 31 Publication
Alternative name(s):
Patched domain-containing protein 2Curated
<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:DISP31 PublicationImported
Synonyms:KIAA1337, PTCHD2
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000204624.7

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29251 DISP3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611251 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9P2K9

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 73CytoplasmicCuratedAdd BLAST73
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei74 – 94HelicalSequence analysisAdd BLAST21
Topological domaini95 – 462LumenalCuratedAdd BLAST368
Transmembranei463 – 483HelicalSequence analysisAdd BLAST21
Topological domaini484CytoplasmicCurated1
Transmembranei485 – 505HelicalSequence analysisAdd BLAST21
Topological domaini506 – 508LumenalCurated3
Transmembranei509 – 529HelicalSequence analysisAdd BLAST21
Topological domaini530 – 573CytoplasmicCuratedAdd BLAST44
Transmembranei574 – 594HelicalSequence analysisAdd BLAST21
Topological domaini595LumenalCurated1
Transmembranei596 – 616HelicalSequence analysisAdd BLAST21
Topological domaini617 – 729CytoplasmicCuratedAdd BLAST113
Transmembranei730 – 750HelicalSequence analysisAdd BLAST21
Topological domaini751 – 1182LumenalCuratedAdd BLAST432
Transmembranei1183 – 1203HelicalSequence analysisAdd BLAST21
Topological domaini1204CytoplasmicCurated1
Transmembranei1205 – 1225HelicalSequence analysisAdd BLAST21
Topological domaini1226 – 1291LumenalCuratedAdd BLAST66
Transmembranei1292 – 1312HelicalSequence analysisAdd BLAST21
Topological domaini1313 – 1320CytoplasmicCurated8
Transmembranei1321 – 1341HelicalSequence analysisAdd BLAST21
Topological domaini1342 – 1358LumenalCuratedAdd BLAST17
Transmembranei1359 – 1379HelicalSequence analysisAdd BLAST21
Topological domaini1380 – 1392CytoplasmicCuratedAdd BLAST13

Keywords - Cellular componenti

Cytoplasmic vesicle, Endoplasmic reticulum, Membrane, 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

Open Targets

More...
OpenTargetsi
ENSG00000204624

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671116

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9P2K9 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DISP3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
160017977

<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_00003083291 – 1392Protein dispatched homolog 3Add BLAST1392

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Glycosylationi163N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1021N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

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

More...
PaxDbi
Q9P2K9

PeptideAtlas

More...
PeptideAtlasi
Q9P2K9

PRoteomics IDEntifications database

More...
PRIDEi
Q9P2K9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
83841 [Q9P2K9-1]
83842 [Q9P2K9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9P2K9

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

More...
PhosphoSitePlusi
Q9P2K9

<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 brain and testis (PubMed:15645143).1 Publication

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in fetal brain (PubMed:15645143).1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated by thyroid hormone T3 (PubMed:19179482).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000204624 Expressed in 69 organ(s), highest expression level in cerebral cortex

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9P2K9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9P2K9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA054579

<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)

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BioGridi
121599, 3 interactors

Protein interaction database and analysis system

More...
IntActi
Q9P2K9, 6 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000294484

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9P2K9 protein

<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>Domaini457 – 615SSDPROSITE-ProRule annotationAdd BLAST159

<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 SSD (sterol-sensing) domain is necessary for the increase in cellular cholesterol uptake.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 patched family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410INZQ Eukaryota
ENOG410YJQF LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157931

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000115763

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9P2K9

Identification of Orthologs from Complete Genome Data

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OMAi
TYVSANT

Database of Orthologous Groups

More...
OrthoDBi
1272250at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9P2K9

TreeFam database of animal gene trees

More...
TreeFami
TF331579

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR042480 DISP3
IPR003392 Ptc/Disp
IPR000731 SSD

The PANTHER Classification System

More...
PANTHERi
PTHR46687 PTHR46687, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02460 Patched, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50156 SSD, 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.

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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P2K9-1) [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
MDTEDDPLLQ DVWLEEEQEE EEATGETFLG AQKPGPQPGA GGQCCWRHWP
60 70 80 90 100
LASRPPASGF WSTLGWAFTN PCCAGLVLFL GCSIPMALSA FMFLYYPPLD
110 120 130 140 150
IDISYNAFEI RNHEASQRFD ALTLALKSQF GSWGRNRRDL ADFTSETLQR
160 170 180 190 200
LISEQLQQLH LGNRSRQASR APRVIPAASL GGPGPYRDTS AAQKPTANRS
210 220 230 240 250
GRLRRETPPL EDLAANQSED PRNQRLSKNG RYQPSIPPHA AVAANQSRAR
260 270 280 290 300
RGASRWDYSR AYVSANTQTH AHWRIELIFL ARGDAERNIF TSERLVTIHE
310 320 330 340 350
IERKIMDHPG FREFCWKPHE VLKDLPLGSY SYCSPPSSLM TYFFPTERGG
360 370 380 390 400
KIYYDGMGQD LADIRGSLEL AMTHPEFYWY VDEGLSADNL KSSLLRSEIL
410 420 430 440 450
FGAPLPNYYS VDDRWEEQRA KFQSFVVTYV AMLAKQSTSK VQVLYGGTDL
460 470 480 490 500
FDYEVRRTFN NDMLLAFISS SCIAALVYIL TSCSVFLSFF GIASIGLSCL
510 520 530 540 550
VALFLYHVVF GIQYLGILNG VAAFVIVGIG VDDVFVFINT YRQATHLEDP
560 570 580 590 600
QLRMIHTVQT AGKATFFTSL TTAAAYAANV FSQIPAVHDF GLFMSLIVSC
610 620 630 640 650
CWLAVLVTMP AALGLWSLYL APLESSCQTS CHQNCSRKTS LHFPGDVFAA
660 670 680 690 700
PEQVGGSPAQ GPIPYLDDDI PLLEVEEEPV SLELGDVSLV SVSPEGLQPA
710 720 730 740 750
SNTGSRGHLI VQLQELLHHW VLWSAVKSRW VIVGLFVSIL ILSLVFASRL
760 770 780 790 800
RPASRAPLLF RPDTNIQVLL DLKYNLSAEG ISCITCSGLF QEKPHSLQNN
810 820 830 840 850
IRTSLEKKRR GSGVPWASRP EATLQDFPGT VYISKVKSQG HPAVYRLSLN
860 870 880 890 900
ASLPAPWQAV SPGDGEVPSF QVYRAPFGNF TKKLTACMST VGLLQAASPS
910 920 930 940 950
RKWMLTTLAC DAKRGWKFDF SFYVATKEQQ HTRKLYFAQS HKPPFHGRVC
960 970 980 990 1000
MAPPGCLLSS SPDGPTKGFF FVPSEKVPKA RLSATFGFNP CVNTGCGKPA
1010 1020 1030 1040 1050
VRPLVDTGAM VFVVFGIIGV NRTRQVDNHV IGDPGSVVYD SSFDLFKEIG
1060 1070 1080 1090 1100
HLCHLCKAIA ANSELVKPGG AQCLPSGYSI SSFLQMLHPE CKELPEPNLL
1110 1120 1130 1140 1150
PGQLSHGAVG VREGRVQWIS MAFESTTYKG KSSFQTYSDY LRWESFLQQQ
1160 1170 1180 1190 1200
LQALPEGSVL RRGFQTCEHW KQIFMEIVGV QSALCGLVLS LLICVAAVAV
1210 1220 1230 1240 1250
FTTHILLLLP VLLSILGIVC LVVTIMYWSG WEMGAVEAIS LSILVGSSVD
1260 1270 1280 1290 1300
YCVHLVEGYL LAGENLPPHQ AEDARTQRQW RTLEAVRHVG VAIVSSALTT
1310 1320 1330 1340 1350
VIATVPLFFC IIAPFAKFGK IVALNTGVSI LYTLTVSTAL LGIMAPSSFT
1360 1370 1380 1390
RTRTSFLKAL GAVLLAGALG LGACLVLLQS GYKIPLPAGA SL
Length:1,392
Mass (Da):153,048
Last modified:October 23, 2007 - 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:iD72303B2F94CD5DF
GO
Isoform 2 (identifier: Q9P2K9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     934-1392: Missing.

Show »
Length:933
Mass (Da):103,766
Checksum:i36DBB4BE0E831FD7
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q9UJD7Q9UJD7_HUMAN
Protein dispatched homolog 3
DISP3
268Annotation 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 BAA92575 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAB55303 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

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_06149639G → R. Corresponds to variant dbSNP:rs41274528Ensembl.1
Natural variantiVAR_03679651L → V. Corresponds to variant dbSNP:rs3738159Ensembl.1
Natural variantiVAR_036797182G → S1 PublicationCorresponds to variant dbSNP:rs2817580Ensembl.1
Natural variantiVAR_036798650A → T1 PublicationCorresponds to variant dbSNP:rs2072994Ensembl.1
Natural variantiVAR_036799661G → A. Corresponds to variant dbSNP:rs2072993Ensembl.1
Natural variantiVAR_036800948R → H. Corresponds to variant dbSNP:rs12096312Ensembl.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_028966934 – 1392Missing in isoform 2. 1 PublicationAdd BLAST459

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB037758 mRNA Translation: BAA92575.1 Different initiation.
AL031735 Genomic DNA No translation available.
AL590989 Genomic DNA No translation available.
AL117236 mRNA Translation: CAB55303.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41247.1 [Q9P2K9-1]

NCBI Reference Sequences

More...
RefSeqi
NP_065831.1, NM_020780.1 [Q9P2K9-1]
XP_011540130.1, XM_011541828.2 [Q9P2K9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000294484; ENSP00000294484; ENSG00000204624 [Q9P2K9-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57540

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:57540

UCSC genome browser

More...
UCSCi
uc001ash.5 human [Q9P2K9-1]

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
AB037758 mRNA Translation: BAA92575.1 Different initiation.
AL031735 Genomic DNA No translation available.
AL590989 Genomic DNA No translation available.
AL117236 mRNA Translation: CAB55303.1 Different initiation.
CCDSiCCDS41247.1 [Q9P2K9-1]
RefSeqiNP_065831.1, NM_020780.1 [Q9P2K9-1]
XP_011540130.1, XM_011541828.2 [Q9P2K9-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi121599, 3 interactors
IntActiQ9P2K9, 6 interactors
STRINGi9606.ENSP00000294484

PTM databases

iPTMnetiQ9P2K9
PhosphoSitePlusiQ9P2K9

Polymorphism and mutation databases

BioMutaiDISP3
DMDMi160017977

Proteomic databases

PaxDbiQ9P2K9
PeptideAtlasiQ9P2K9
PRIDEiQ9P2K9
ProteomicsDBi83841 [Q9P2K9-1]
83842 [Q9P2K9-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
57540

Genome annotation databases

EnsembliENST00000294484; ENSP00000294484; ENSG00000204624 [Q9P2K9-1]
GeneIDi57540
KEGGihsa:57540
UCSCiuc001ash.5 human [Q9P2K9-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
57540
EuPathDBiHostDB:ENSG00000204624.7

GeneCards: human genes, protein and diseases

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GeneCardsi
DISP3
HGNCiHGNC:29251 DISP3
HPAiHPA054579
MIMi611251 gene
neXtProtiNX_Q9P2K9
OpenTargetsiENSG00000204624
PharmGKBiPA142671116

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

eggNOGiENOG410INZQ Eukaryota
ENOG410YJQF LUCA
GeneTreeiENSGT00940000157931
HOGENOMiHOG000115763
InParanoidiQ9P2K9
OMAiTYVSANT
OrthoDBi1272250at2759
PhylomeDBiQ9P2K9
TreeFamiTF331579

Enzyme and pathway databases

SignaLinkiQ9P2K9

Miscellaneous databases

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

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GenomeRNAii
57540
PharosiQ9P2K9 Tbio

Protein Ontology

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PROi
PR:Q9P2K9
RNActiQ9P2K9 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000204624 Expressed in 69 organ(s), highest expression level in cerebral cortex
ExpressionAtlasiQ9P2K9 baseline and differential
GenevisibleiQ9P2K9 HS

Family and domain databases

InterProiView protein in InterPro
IPR042480 DISP3
IPR003392 Ptc/Disp
IPR000731 SSD
PANTHERiPTHR46687 PTHR46687, 1 hit
PfamiView protein in Pfam
PF02460 Patched, 2 hits
PROSITEiView protein in PROSITE
PS50156 SSD, 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 nameiDISP3_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: Q9P2K9
Secondary accession number(s): Q5VTU9, Q9UJD6
<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: October 23, 2007
Last sequence update: October 23, 2007
Last modified: December 11, 2019
This is version 122 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

Reference proteome

Documents

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