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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-Experimental evidence at transcript leveli

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

GO - Biological processi

  • cholesterol homeostasis Source: UniProtKB
  • cholesterol metabolic process Source: UniProtKB-KW
  • negative regulation of neuron differentiation Source: UniProtKB
  • positive regulation of lipid metabolic process Source: UniProtKB
  • positive regulation of neural precursor cell proliferation Source: UniProtKB
  • regulation of lipid transport Source: UniProtKB
  • smoothened signaling pathway Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cholesterol metabolism, Differentiation, Lipid metabolism, Steroid metabolism, Sterol metabolism

Enzyme and pathway databases

BioCyciZFISH:G66-32034-MONOMER.
SignaLinkiQ9P2K9.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein dispatched homolog 31 Publication
Alternative name(s):
Patched domain-containing protein 2Curated
Gene namesi
Name:DISP31 PublicationImported
Synonyms:KIAA1337, PTCHD2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:29251. DISP3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 73CytoplasmicCuratedAdd BLAST73
Transmembranei74 – 94HelicalSequence analysisAdd BLAST21
Topological domaini95 – 462ExtracellularCuratedAdd BLAST368
Transmembranei463 – 483HelicalSequence analysisAdd BLAST21
Topological domaini484CytoplasmicCurated1
Transmembranei485 – 505HelicalSequence analysisAdd BLAST21
Topological domaini506 – 508ExtracellularCurated3
Transmembranei509 – 529HelicalSequence analysisAdd BLAST21
Topological domaini530 – 573CytoplasmicCuratedAdd BLAST44
Transmembranei574 – 594HelicalSequence analysisAdd BLAST21
Topological domaini595ExtracellularCurated1
Transmembranei596 – 616HelicalSequence analysisAdd BLAST21
Topological domaini617 – 729CytoplasmicCuratedAdd BLAST113
Transmembranei730 – 750HelicalSequence analysisAdd BLAST21
Topological domaini751 – 1182ExtracellularCuratedAdd BLAST432
Transmembranei1183 – 1203HelicalSequence analysisAdd BLAST21
Topological domaini1204CytoplasmicCurated1
Transmembranei1205 – 1225HelicalSequence analysisAdd BLAST21
Topological domaini1226 – 1291ExtracellularCuratedAdd BLAST66
Transmembranei1292 – 1312HelicalSequence analysisAdd BLAST21
Topological domaini1313 – 1320CytoplasmicCurated8
Transmembranei1321 – 1341HelicalSequence analysisAdd BLAST21
Topological domaini1342 – 1358ExtracellularCuratedAdd BLAST17
Transmembranei1359 – 1379HelicalSequence analysisAdd BLAST21
Topological domaini1380 – 1392CytoplasmicCuratedAdd BLAST13

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytoplasmic vesicle membrane Source: UniProtKB-SubCell
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB
  • nuclear membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle, Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000204624.
PharmGKBiPA142671116.

Polymorphism and mutation databases

BioMutaiPTCHD2.
DMDMi160017977.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003083291 – 1392Protein dispatched homolog 3Add BLAST1392

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi163N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1021N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9P2K9.
PeptideAtlasiQ9P2K9.
PRIDEiQ9P2K9.

PTM databases

iPTMnetiQ9P2K9.
PhosphoSitePlusiQ9P2K9.

Expressioni

Tissue specificityi

Expressed in brain and testis (PubMed:15645143).1 Publication

Developmental stagei

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

Inductioni

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

Gene expression databases

BgeeiENSG00000204624.
CleanExiHS_PTCHD2.
ExpressionAtlasiQ9P2K9. baseline and differential.
GenevisibleiQ9P2K9. HS.

Organism-specific databases

HPAiHPA054579.

Interactioni

Protein-protein interaction databases

BioGridi121599. 2 interactors.
IntActiQ9P2K9. 4 interactors.
MINTiMINT-1367736.
STRINGi9606.ENSP00000294484.

Structurei

3D structure databases

ProteinModelPortaliQ9P2K9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini457 – 615SSDPROSITE-ProRule annotationAdd BLAST159

Domaini

The SSD (sterol-sensing) domain is necessary for the increase in cellular cholesterol uptake.By similarity

Sequence similaritiesi

Belongs to the patched family.Curated
Contains 1 SSD (sterol-sensing) domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410INZQ. Eukaryota.
ENOG410YJQF. LUCA.
GeneTreeiENSGT00530000063208.
HOGENOMiHOG000115763.
HOVERGENiHBG108304.
InParanoidiQ9P2K9.
OMAiWEMGAVE.
OrthoDBiEOG091G00O6.
PhylomeDBiQ9P2K9.
TreeFamiTF331579.

Family and domain databases

InterProiIPR003392. Ptc/Disp.
IPR000731. SSD.
[Graphical view]
PfamiPF02460. Patched. 2 hits.
[Graphical view]
PROSITEiPS50156. SSD. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9P2K9-1) [UniParc]FASTAAdd to basket

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

« Hide

        10         20         30         40         50
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
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.

Note: No experimental confirmation available.
Show »
Length:933
Mass (Da):103,766
Checksum:i36DBB4BE0E831FD7
GO

Sequence cautioni

The sequence BAA92575 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAB55303 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAH70606 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI22474 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06149639G → R.Corresponds to variant rs41274528dbSNPEnsembl.1
Natural variantiVAR_03679651L → V.Corresponds to variant rs3738159dbSNPEnsembl.1
Natural variantiVAR_036797182G → S.1 PublicationCorresponds to variant rs2817580dbSNPEnsembl.1
Natural variantiVAR_036798650A → T.1 PublicationCorresponds to variant rs2072994dbSNPEnsembl.1
Natural variantiVAR_036799661G → A.Corresponds to variant rs2072993dbSNPEnsembl.1
Natural variantiVAR_036800948R → H.Corresponds to variant rs12096312dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_028966934 – 1392Missing in isoform 2. 1 PublicationAdd BLAST459

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB037758 mRNA. Translation: BAA92575.1. Different initiation.
AL590989, AL031735 Genomic DNA. Translation: CAH70606.1. Sequence problems.
AL031735, AL590989 Genomic DNA. Translation: CAI22474.1. Sequence problems.
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]
UniGeneiHs.202355.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB037758 mRNA. Translation: BAA92575.1. Different initiation.
AL590989, AL031735 Genomic DNA. Translation: CAH70606.1. Sequence problems.
AL031735, AL590989 Genomic DNA. Translation: CAI22474.1. Sequence problems.
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]
UniGeneiHs.202355.

3D structure databases

ProteinModelPortaliQ9P2K9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121599. 2 interactors.
IntActiQ9P2K9. 4 interactors.
MINTiMINT-1367736.
STRINGi9606.ENSP00000294484.

PTM databases

iPTMnetiQ9P2K9.
PhosphoSitePlusiQ9P2K9.

Polymorphism and mutation databases

BioMutaiPTCHD2.
DMDMi160017977.

Proteomic databases

PaxDbiQ9P2K9.
PeptideAtlasiQ9P2K9.
PRIDEiQ9P2K9.

Protocols and materials databases

DNASUi57540.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi57540.
GeneCardsiPTCHD2.
H-InvDBHIX0000124.
HGNCiHGNC:29251. DISP3.
HPAiHPA054579.
MIMi611251. gene.
neXtProtiNX_Q9P2K9.
OpenTargetsiENSG00000204624.
PharmGKBiPA142671116.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410INZQ. Eukaryota.
ENOG410YJQF. LUCA.
GeneTreeiENSGT00530000063208.
HOGENOMiHOG000115763.
HOVERGENiHBG108304.
InParanoidiQ9P2K9.
OMAiWEMGAVE.
OrthoDBiEOG091G00O6.
PhylomeDBiQ9P2K9.
TreeFamiTF331579.

Enzyme and pathway databases

BioCyciZFISH:G66-32034-MONOMER.
SignaLinkiQ9P2K9.

Miscellaneous databases

GenomeRNAii57540.
PROiQ9P2K9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204624.
CleanExiHS_PTCHD2.
ExpressionAtlasiQ9P2K9. baseline and differential.
GenevisibleiQ9P2K9. HS.

Family and domain databases

InterProiIPR003392. Ptc/Disp.
IPR000731. SSD.
[Graphical view]
PfamiPF02460. Patched. 2 hits.
[Graphical view]
PROSITEiPS50156. SSD. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDISP3_HUMAN
AccessioniPrimary (citable) accession number: Q9P2K9
Secondary accession number(s): Q5VTU9, Q9UJD6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: October 23, 2007
Last modified: November 2, 2016
This is version 104 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.