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    DISP1 dispatched RND transporter family member 1 [ Homo sapiens (human) ]

    Gene ID: 84976, updated on 19-Jun-2019

    Summary

    Official Symbol
    DISP1provided by HGNC
    Official Full Name
    dispatched RND transporter family member 1provided by HGNC
    Primary source
    HGNC:HGNC:19711
    See related
    Ensembl:ENSG00000154309 MIM:607502
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DISPA
    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 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]
    Expression
    Broad expression in lung (RPKM 5.0), testis (RPKM 4.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See DISP1 in Genome Data Viewer
    Location:
    1q41
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (222814514..223005995)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (222988342..223179337)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene axin interactor, dorsalization associated Neighboring gene uncharacterized LOC105372984 Neighboring gene BRO1 domain and CAAX motif containing Neighboring gene family with sequence similarity 177 member B Neighboring gene NADH:ubiquinone oxidoreductase subunit B1 pseudogene 2 Neighboring gene 1q41-q42 HERV-mediated distal recombination region Neighboring gene uncharacterized LOC102724046

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-07-06)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2012-07-06)

    ClinGen Genome Curation Page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ43740, MGC13130, MGC16796, MGC104180, DKFZp434I0428

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    peptide transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    diaphragm development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    patched ligand maturation IEA
    Inferred from Electronic Annotation
    more info
     
    peptide transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein homotrimerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of protein secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein dispatched homolog 1
    Names
    dispatched A

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009243.2 RefSeqGene

      Range
      4993..195907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001350630.2NP_001337559.1  protein dispatched homolog 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC093152, AL392172, BC007734, BC011542, DA062334, DA756409, HY128909
      Conserved Domains (1) summary
      cl25655
      Location:192850
      Patched; Patched family
    2. NM_001369594.1NP_001356523.1  protein dispatched homolog 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC093152
    3. NM_032890.5NP_116279.2  protein dispatched homolog 1 isoform 1

      See identical proteins and their annotated locations for NP_116279.2

      Status: REVIEWED

      Source sequence(s)
      AC093152, AL392172, BC007734, BC011542, DA062334, DA756409
      Consensus CDS
      CCDS1536.1
      UniProtKB/Swiss-Prot
      Q96F81
      Conserved Domains (2) summary
      pfam02460
      Location:4561093
      Patched; Patched family
      cl21543
      Location:507671
      MMPL; MMPL family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      222814514..223005995
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510075.2XP_011508377.1  protein dispatched homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_011508377.1

      UniProtKB/Swiss-Prot
      Q96F81
      Conserved Domains (2) summary
      pfam02460
      Location:4561093
      Patched; Patched family
      cl21543
      Location:507671
      MMPL; MMPL family
    2. XM_011510073.2XP_011508375.1  protein dispatched homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_011508375.1

      UniProtKB/Swiss-Prot
      Q96F81
      Conserved Domains (2) summary
      pfam02460
      Location:4561093
      Patched; Patched family
      cl21543
      Location:507671
      MMPL; MMPL family
    3. XM_017002611.1XP_016858100.1  protein dispatched homolog 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96F81
      Conserved Domains (2) summary
      pfam02460
      Location:4561093
      Patched; Patched family
      cl21543
      Location:507671
      MMPL; MMPL family
    4. XM_011510077.2XP_011508379.1  protein dispatched homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_011508379.1

      UniProtKB/Swiss-Prot
      Q96F81
      Conserved Domains (2) summary
      pfam02460
      Location:4561093
      Patched; Patched family
      cl21543
      Location:507671
      MMPL; MMPL family
    5. XM_011510072.2XP_011508374.1  protein dispatched homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_011508374.1

      UniProtKB/Swiss-Prot
      Q96F81
      Conserved Domains (2) summary
      pfam02460
      Location:4561093
      Patched; Patched family
      cl21543
      Location:507671
      MMPL; MMPL family
    6. XM_011510074.2XP_011508376.1  protein dispatched homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_011508376.1

      UniProtKB/Swiss-Prot
      Q96F81
      Conserved Domains (2) summary
      pfam02460
      Location:4561093
      Patched; Patched family
      cl21543
      Location:507671
      MMPL; MMPL family
    7. XM_006711592.2XP_006711655.1  protein dispatched homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_006711655.1

      UniProtKB/Swiss-Prot
      Q96F81
      Conserved Domains (2) summary
      pfam02460
      Location:4561093
      Patched; Patched family
      cl21543
      Location:507671
      MMPL; MMPL family
    8. XM_017002612.1XP_016858101.1  protein dispatched homolog 1 isoform X2

      Conserved Domains (2) summary
      pfam02460
      Location:262899
      Patched; Patched family
      cl21543
      Location:313477
      MMPL; MMPL family
    9. XM_006711594.3XP_006711657.1  protein dispatched homolog 1 isoform X2

      See identical proteins and their annotated locations for XP_006711657.1

      Conserved Domains (2) summary
      pfam02460
      Location:262899
      Patched; Patched family
      cl21543
      Location:313477
      MMPL; MMPL family
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