DISP1 (dispatched RND transporter family member 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 84976
Gene name Dispatched RND transporter family member 1
Gene symbol DISP1
Synonyms (NCBI Gene)
DISPAHPE10
Chromosome 1
Chromosome location 1q41
Summary The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a gr
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs114523965 C>T Conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, missense variant, coding sequence variant
rs749035153 G>A,T Likely-pathogenic Coding sequence variant, genic downstream transcript variant, stop gained, missense variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT017105 hsa-miR-335-5p Microarray 18185580
MIRT022349 hsa-miR-124-3p Microarray 18668037
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32814053
GO:0007224 Process Smoothened signaling pathway IBA
GO:0007225 Process Patched ligand maturation IEA
GO:0007368 Process Determination of left/right symmetry IEA
GO:0009880 Process Embryonic pattern specification IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607502 19711 ENSG00000154309
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96F81
Protein name Protein dispatched homolog 1
Protein function Functions in hedgehog (Hh) signaling. Regulates the release and extracellular accumulation of cholesterol-modified hedgehog proteins and is hence required for effective production of the Hh signal (By similarity). Synergizes with SCUBE2 to cause
PDB 6XE6 , 7E2G , 7E2H , 7E2I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02460 Patched 269 → 765 Patched family Family
PF02460 Patched 924 → 1129 Patched family Family
Sequence 
MAMSNGNNDFVVLSNSSIATSAANPSPLTPCDGDHAAQQLTPKEATRTKVSPNGCLQLNG
TVKSSFLPLDNQRMPQMLPQCCHPCPYHHPLTSHSSHQECHPEAGPAAPSALASCCMQPH
SEYSASLCPNHSPVYQTTCCLQPSPSFCLHHPWPDHFQHQPVQQHIANIRPSRPFKLPKS
YAALIADWPVVVLGMCTMFIVVCALVGVLVPELPDFSDPLLGFEPRGTAIGQRLVTWNNM
VKNTGYKATLANYPFKYADEQAKSHRDDRWSDDHYEREKREVDWNFHKDSFFCDVPSDRY
SRVVFTSSGGETLWNLPAIKSMCNVDNSRIRSHPQFGDLCQRTTAASCCPSWTLGNYIAI
LNNRSSCQKIVERDVSHTLKLLRTCAKHYQNGTLGPDCWDMAARRKDQLKCTNVPRKCTK
YNAVYQILHYLVDKDFMTPKTADYATPALKYSMLFSPTEKGESMMNIYLDNFENWNSSDG
VTTITGIEFGIKHSLFQDYLLMDTVYPAIAIVIVLLVMCVYTKSMFITLMTMFAIISSLI
VSYFLYRVVFHFEFFPFMNLTALIILVGIGADDAFVLCDVWNYTKFDKPHAETSETVSIT
LQHAALSMFVTSFTTAAAFYANYVSNITAIRCFGVYAGTAILVNYVLMVTWLPAVVVLHE
RYLLNIFTCFKKPQQQIYDNKSCWTVACQKCHKVLFAISEASRIFFEKVLPCIVIKFRYL
WLFWFLALTVGGAYIVCINPKMKLPSLELSEFQVFRSSHPFERYDAEYKKLFMFERVHHG
EELHMPITVIWGVSPEDNGNPLNPKSKGKLTLDSSFNIASPASQAWILHFCQKLRNQTFF
YQTDEQDFTSCFIETFKQWMENQDCDEPALYPCCSHWSFPYKQEIFELCIKRAIMELERS
TGYHLDSKTPGPRFDINDTIRAVVLEFQSTYLFTLAYEKMHQFYKEVDSWISSELSSAPE
GLSNGWFVSNLEFYDLQDSLSDGTLIAMGLSVAVAFSVMLLTTWNIIISLYAIISIAGTI
FVTVGSLVLLGWELNVLESVTISVAVGLSVDFAVHYGVAYRLAPDPDREGKVIFSLSRVG
SAMAMAALTTFVAGAMMMPSTVLAYTQLGTFMMLIMCISWAFATFFFQCMCRCLGPQGTC
GQIPLPKKLQCSAFSHALSTSPSDKGQSKTHTINAYHLDPRGPKSELEHEFYELEPLASH
SCTAPEKTTYEETHICSEFFNSQAKNLGMPVHAAYNSELSKSTESDAGSALLQPPLEQHT
VCHFFSLNQRCSCPDAYKHLNYGPHSCQQMGDCLCHQCSPTTSSFVQIQNGVAPLKATHQ
AVEGFVHPITHIHHCPCLQGRVKPAGMQNSLPRNFFLHPVQHIQAQEKIGKTNVHSLQRS
IEEHLPKMAEPSSFVCRSTGSLLKTCCDPENKQRELCKNRDVSNLESSGGTENKAGGKVE
LSLSQTDASVNSEHFNQNEPKVLFNHLMGEAGCRSCPNNSQSCGRIVRVKCNSVDCQMPN
MEANVPAVLTHSELSGESLLIKTL
Sequence length 1524
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Hedgehog signaling pathway  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
47
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (10)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DISP1-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign rs1679522239, rs143065552, rs753844157, rs143218453, rs143043410, rs1679726949, rs1679784323, rs2528308634, rs755916120, rs1490415277, rs2102801720, rs1163812623, rs747237302, rs141653283, rs2528299284
View all (16 more)		 RCV004749739
RCV003958642
RCV003408108
RCV003973670
RCV003963460
RCV004731502
RCV004731503
RCV003420771
RCV003410752
RCV003412479
RCV003410890
RCV003414310
RCV003418784
RCV003954231
RCV003984639
RCV003899807
RCV003971875
RCV003949816
RCV003964732
RCV003969700
RCV003947960
RCV003962897
RCV003910443
RCV003930580
RCV004749521
RCV003902861
RCV003895489
RCV003902958
RCV003978132
RCV003903095
RCV004749575
DISP1-related Holoprosencephaly Uncertain significance rs1679522239 RCV001784096
Esophageal atresia Uncertain significance rs952023183 RCV002279875
Gastric cancer Uncertain significance rs1029577112 RCV005898158
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 37273234
Bipolar Disorder Associate 32627186
Constriction Pathologic Associate 38529886
COVID 19 Associate 35657140
Craniofacial Abnormalities Associate 38529886
Hernias Diaphragmatic Congenital Associate 20799323
Holoprosencephaly Associate 26748417, 27363716, 38529886
Midline Defects X Linked Associate 38529886
Obsessive Compulsive Disorder Associate 31808517
Orofacial Cleft 1 Associate 38529886