DISP1 Gene (Protein Coding)

Dispatched RND Transporter Family Member 1

GC01P222814
GIFtS:
39
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 graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types cons... See more...

Aliases for DISP1 Gene

Aliases for DISP1 Gene

  • Dispatched RND Transporter Family Member 1 2 3 5
  • DISPA 2 3 4
  • Protein Dispatched Homolog 1 3 4
  • Dispatched Homolog 1 (Drosophila) 2
  • DKFZP434I0428 2
  • Dispatched A 3
  • MGC13130 2
  • MGC16796 2
  • DISP1 5

External Ids for DISP1 Gene

Previous GeneCards Identifiers for DISP1 Gene

  • GC01P220158
  • GC01P219490
  • GC01P221112
  • GC01P222989
  • GC01P193775
  • GC01P222820

Summaries for DISP1 Gene

Entrez Gene Summary for DISP1 Gene

  • 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 graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo. [provided by RefSeq, Jul 2008]

GeneCards Summary for DISP1 Gene

DISP1 (Dispatched RND Transporter Family Member 1) is a Protein Coding gene. Diseases associated with DISP1 include Microform Holoprosencephaly and Lobar Holoprosencephaly. Among its related pathways are Hedgehog signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include hedgehog receptor activity. An important paralog of this gene is DISP2.

UniProtKB/Swiss-Prot Summary for DISP1 Gene

  • 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 an increase in SHH secretion (PubMed:22902404).

Additional gene information for DISP1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DISP1 Gene

Genomics for DISP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DISP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J222813 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 252.7 +0.5 461 2.9 CHD2 ZBTB10 FEZF1 ETS1 ELF1 THAP11 SIN3A GABPA ZNF639 MAX DISP1 AC093152.1 CICP13 ENSG00000272750 HHIPL2 TLR5
GH01J222928 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 275.1 +114.3 114316 1.9 MCM3 ZNF610 SIN3A RXRA JUND ZBTB48 HNF4A NRF1 TAF1 RAD21 DISP1 CICP13 CAPN2 TAF1A NDUFB1P2 SNODB554 AC093152.1 TLR5
GH01J222823 Promoter/Enhancer 0.8 EPDnew Ensembl 250.4 +9.3 9287 0.4 CEBPB PRDM6 MAFF ZNF384 HLF DISP1 AC093152.1 lnc-DISP1-4 TLR5
GH01J222710 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 -102.0 -102013 4.6 TBP SP1 ZBTB10 FEZF1 SIX5 NR2C1 MNT IKZF1 SMAD5 ETS1 BROX AIDA lnc-FAM177B-3 CICP13 TAF1A ENSG00000272750 MIA3 HHIPL2 CAPN2 DISP1
GH01J223018 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.4 +206.8 206814 6.4 FEZF1 ZIC2 ZNF610 KLF7 ZNF341 ZNF843 SP2 PRDM6 ZNF24 ZNF189 lnc-TLR5-2 DISP1 ENSG00000272750 TLR5 CAPN2 piR-56229-005
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DISP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DISP1

Top Transcription factor binding sites by QIAGEN in the DISP1 gene promoter:
  • aMEF-2
  • C/EBPbeta
  • Evi-1
  • FOXD3
  • FOXI1
  • FOXO4
  • HFH-3
  • Hlf
  • MEF-2A
  • POU6F1 (c2)

Genomic Locations for DISP1 Gene

Latest Assembly
chr1:222,814,514-223,005,995
(GRCh38/hg38)
Size:
191,482 bases
Orientation:
Plus strand

Previous Assembly
chr1:222,988,381-223,179,337
(GRCh37/hg19 by Entrez Gene)
Size:
190,957 bases
Orientation:
Plus strand

chr1:222,988,406-223,179,337
(GRCh37/hg19 by Ensembl)
Size:
190,932 bases
Orientation:
Plus strand

Genomic View for DISP1 Gene

Genes around DISP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DISP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DISP1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DISP1 Gene

Proteins for DISP1 Gene

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  • Protein details for DISP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96F81-DISP1_HUMAN
    Recommended name:
    Protein dispatched homolog 1
    Protein Accession:
    Q96F81
    Secondary Accessions:
    • Q8N7C2
    • Q96I92
    • Q9H698
    • Q9H8H9
    • Q9UFA2

    Protein attributes for DISP1 Gene

    Size:
    1524 amino acids
    Molecular mass:
    170934 Da
    Quaternary structure:
    • Interacts with SHH via the cholesterol anchor of the dually lipid-modified SHH (ShhNp) (PubMed:22902404).
    SequenceCaution:
    • Sequence=AAH07734.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAB14637.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB15365.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DISP1 Gene

neXtProt entry for DISP1 Gene

Protein Expression for DISP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DISP1 Gene

  • Glycosylation at Asn59 and Asn582
  • Modification sites at PhosphoSitePlus

Other Protein References for DISP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DISP1 Gene

Domains & Families for DISP1 Gene

Gene Families for DISP1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for DISP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DISP1 Gene

GenScript: Design optimal peptide antigens:
  • Protein dispatched homolog 1 (DISP1_HUMAN)
  • DISP1 protein (Q3B776_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96F81

UniProtKB/Swiss-Prot:

DISP1_HUMAN :
  • Belongs to the dispatched family.
Family:
  • Belongs to the dispatched family.
genes like me logo Genes that share domains with DISP1: view

Function for DISP1 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for DISP1 Gene

UniProtKB/Swiss-Prot 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 an increase in SHH secretion (PubMed:22902404).

Phenotypes From GWAS Catalog for DISP1 Gene

Gene Ontology (GO) - Molecular Function for DISP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:1904680 peptide transmembrane transporter activity ISS --
genes like me logo Genes that share ontologies with DISP1: view
genes like me logo Genes that share phenotypes with DISP1: view

Human Phenotype Ontology for DISP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DISP1 Gene

MGI Knock Outs for DISP1:

Animal Models for research

miRNA for DISP1 Gene

miRTarBase miRNAs that target DISP1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DISP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DISP1 Gene

Localization for DISP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DISP1 Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DISP1 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DISP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane ISS --
genes like me logo Genes that share ontologies with DISP1: view

Pathways & Interactions for DISP1 Gene

PathCards logo

SuperPathways for DISP1 Gene

genes like me logo Genes that share pathways with DISP1: view

Pathways by source for DISP1 Gene

1 KEGG pathway for DISP1 Gene

SIGNOR curated interactions for DISP1 Gene

Activates:

Gene Ontology (GO) - Biological Process for DISP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007225 patched ligand maturation IDA --
GO:0007275 multicellular organism development IEA --
GO:0007368 determination of left/right symmetry IMP --
GO:0009880 embryonic pattern specification IMP --
GO:0009953 dorsal/ventral pattern formation IMP --
genes like me logo Genes that share ontologies with DISP1: view

Drugs & Compounds for DISP1 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for DISP1 Gene

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  2. miRNA products for research
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mRNA/cDNA for DISP1 Gene

5 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DISP1

Alternative Splicing Database (ASD) splice patterns (SP) for DISP1 Gene

No ASD Table

Relevant External Links for DISP1 Gene

GeneLoc Exon Structure for
DISP1

Expression for DISP1 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DISP1 Gene

mRNA expression in normal human tissues for DISP1 Gene
mRNA expression by BioGPS for DISP1 GenemRNA expression by GTEx for DISP1 Gene

Protein differential expression in normal tissues from HIPED for DISP1 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DISP1 Gene



Protein tissue co-expression partners for DISP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DISP1

SOURCE GeneReport for Unigene cluster for DISP1 Gene:

Hs.528817

Evidence on tissue expression from TISSUES for DISP1 Gene

  • Kidney(4.3)
  • Muscle(4.2)
  • Intestine(4.1)
  • Nervous system(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DISP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • pharynx
  • pituitary gland
  • skull
  • tooth
General:
  • skin
genes like me logo Genes that share expression patterns with DISP1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DISP1 Gene

Orthologs for DISP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DISP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DISP1 30 31
  • 99.39 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DISP1 31
  • 89 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DISP1 31
  • 86 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Disp1 30 17 31
  • 82.37 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 82 (a)
 OneToMany
-- 31
  • 78 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Disp1 30
  • 81.72 (n)
Dog
(Canis familiaris)
 Mammalia DISP1 30 31
  • 74.8 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves DISP1 30 31
  • 77.41 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DISP1 31
  • 77 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia disp1 30
  • 75.99 (n)
Zebrafish
(Danio rerio)
 Actinopterygii disp1 30 31
  • 68.61 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004140 30
  • 51.25 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta disp 30 31
  • 48.66 (n)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea ptd-2 30 31
  • 41.94 (n)
 ManyToMany
che-14 31
  • 21 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 42 (a)
 OneToMany
Species where no ortholog for DISP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DISP1 Gene

ENSEMBL:
Gene Tree for DISP1 (if available)
TreeFam:
Gene Tree for DISP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DISP1: view image

Paralogs for DISP1 Gene

Paralogs for DISP1 Gene

(1) SIMAP similar genes for DISP1 Gene using alignment to 3 proteins:

  • DISP1_HUMAN
  • E7ERD1_HUMAN
  • Q3B776_HUMAN
genes like me logo Genes that share paralogs with DISP1: view

Variants for DISP1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DISP1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1029577112 Uncertain Significance: Holoprosencephaly sequence 222,991,599(+) C/T
NM_032890.5(DISP1):c.743C>T (p.Ala248Val) 		MISSENSE_VARIANT,FIVE_PRIME_UTR
rs1064793099 Uncertain Significance: not provided 223,005,402(+) TC/T
NM_032890.5(DISP1):c.4008del (p.Cys1337fs) 		FRAMESHIFT
rs1064794602 Uncertain Significance: not provided 223,003,853(+) C/A
NM_032890.5(DISP1):c.2456C>A (p.Ala819Asp) 		MISSENSE
rs1064794816 Uncertain Significance: not provided 223,003,681(+) G/C
NM_032890.5(DISP1):c.2284G>C (p.Glu762Gln) 		MISSENSE
rs1064795201 Uncertain Significance: not provided 223,004,603(+) A/G
NM_032890.5(DISP1):c.3206A>G (p.Glu1069Gly) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DISP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DISP1 Gene

Variant ID Type Subtype PubMed ID
esv1553806 CNV insertion 17803354
esv2723328 CNV deletion 23290073
esv3547277 CNV deletion 23714750
esv3578452 CNV loss 25503493
esv3578453 CNV loss 25503493
esv3588951 CNV loss 21293372
esv5267 CNV loss 18987735
esv991453 CNV insertion 20482838
esv998735 CNV deletion 20482838
nsv1160101 CNV deletion 26073780
nsv442589 CNV loss 18776908

Variation tolerance for DISP1 Gene

Residual Variation Intolerance Score: 6.38% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.48; 95.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DISP1 Gene

Human Gene Mutation Database (HGMD)
DISP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DISP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DISP1 Gene

Disorders for DISP1 Gene

MalaCards: The human disease database

(27) MalaCards diseases for DISP1 Gene - From: CVR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search DISP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DISP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DISP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DISP1 Gene

Publications for DISP1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Dispatched, a novel sterol-sensing domain protein dedicated to the release of cholesterol-modified hedgehog from signaling cells. (PMID: 10619433) Burke R … Basler K (Cell 1999) 2 3
  4. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3
  5. Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. (PMID: 31343991) Wang P … Xiong Y (The Journal of clinical investigation 2019) 3

ExternalLinks

View latest publications for DISP1 gene in Mastermind

Products for DISP1 Gene

Sources for DISP1 Gene