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

Gene ID: 84976, updated on 10-Dec-2024

Summary

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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; AllianceGenome:HGNC:19711
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
mouse all
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Genomic context

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See DISP1 in Genome Data Viewer
Location:
1q41
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (222815039..223005995)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (222048788..222239862)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (222988381..223179337)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1836 Neighboring gene uncharacterized LOC105372984 Neighboring gene family with sequence similarity 177 member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1837 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1839 Neighboring gene small nucleolar RNA U13 Neighboring gene NADH:ubiquinone oxidoreductase subunit B1 pseudogene 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:223195995-223196670 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:223197347-223198022 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:223198023-223198698 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:223198699-223199373 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:223199517-223200274 Neighboring gene 1q41-q42 HERV-mediated distal recombination region Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:223202549-223203306 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:223203307-223204064 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:223204065-223204822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:223209992-223210672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:223211353-223212032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:223226073-223226573 Neighboring gene uncharacterized LOC124904520 Neighboring gene uncharacterized LOC124904521

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations. Lavillaureix A, et al. Genet Med, 2024 Jul. PMID 38529886
  2. Conserved cholesterol-related activities of Dispatched 1 drive Sonic hedgehog shedding from the cell membrane. Ehring K, et al. J Cell Sci, 2022 Mar 1. PMID 34308968, Free PMC Article
  3. Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans. Roessler E, et al. Hum Genet, 2009 May. PMID 19184110, Free PMC Article
  4. Structure of human Dispatched-1 provides insights into Hedgehog ligand biogenesis. Chen H, et al. Life Sci Alliance, 2020 Aug. PMID 32646883, Free PMC Article
  5. Pharmacogenetic evaluation of a DISP1 gene variant in antidepressant treatment of obsessive-compulsive disorder. Lisoway AJ, et al. Hum Psychopharmacol, 2018 Jul. PMID 29953682

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
    Title: DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
  2. Conserved cholesterol-related activities of Dispatched 1 drive Sonic hedgehog shedding from the cell membrane.
    Title: Conserved cholesterol-related activities of Dispatched 1 drive Sonic hedgehog shedding from the cell membrane.
  3. Structural insights into proteolytic activation of the human Dispatched1 transporter for Hedgehog morphogen release.
    Title: Structural insights into proteolytic activation of the human Dispatched1 transporter for Hedgehog morphogen release.
  4. Structure of human Dispatched-1 provides insights into Hedgehog ligand biogenesis.
    Title: Structure of human Dispatched-1 provides insights into Hedgehog ligand biogenesis.
  5. Genome-wide association study does not support the role of DISP1 in predicting serotonin reuptake inhibitor response in obsessive-compulsive disorder.
    Title: Pharmacogenetic evaluation of a DISP1 gene variant in antidepressant treatment of obsessive-compulsive disorder.
  6. The top single-nucleotide polymorphism (SNP) was rs17162912 (P=1.76 x 10(-8)), which is near the DISP1 gene on 1q41-q42, a microdeletion region implicated in neurological development.
    Title: Whole-genome association analysis of treatment response in obsessive-compulsive disorder.
  7. DISP-1 is required for non-small cell lung carcinoma cells proliferation
    Title: The hedgehog processing pathway is required for NSCLC growth and survival.
  8. Studies indicate that DISP1 haploinsufficiency may not be solely responsible for the major features of 1q41q42 microdeletion syndrome, and other genes in the SRO likely play a role in the phenotype.
    Title: New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
  9. report of 1st de novo DISP1 point mutation in patient with congenital diaphragmatic hernia (CDH); finding with Disp1 embryonic mouse diaphragm and lung expression and previously reported 1q41q42 aberrations in CDH suggests DISP1 may be CDH candidate gene
    Title: Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.
  10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ43740, MGC13130, MGC16796, MGC104180, DKFZp434I0428

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables peptide transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in determination of left/right symmetry IEA
Inferred from Electronic Annotation
more info
  
involved_in diaphragm development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
  
involved_in embryonic pattern specification IEA
Inferred from Electronic Annotation
more info
  
involved_in patched ligand maturation IEA
Inferred from Electronic Annotation
more info
  
involved_in peptide transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in smoothened signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
protein dispatched homolog 1
Names
dispatched A

NCBI Reference Sequences (RefSeq)

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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
    4951..195907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC093152, AL392172, BC007734, BC011542, DA062334, DA756409, HY128909
    UniProtKB/TrEMBL
    B3KPN9
    Conserved Domains (1) summary
    cl25655
    Location:192 → 850
    Patched; Patched family

  2. NM_001369594.1 → NP_001356523.1  protein dispatched homolog 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC093152
    Consensus CDS
    CCDS1536.1
    UniProtKB/Swiss-Prot
    Q8N7C2, Q96F81, Q96I92, Q9H698, Q9H8H9, Q9UFA2
    Related
    ENSP00000284476.6, ENST00000284476.7
    Conserved Domains (1) summary
    cl25655
    Location:435 → 1131
    Patched; Patched family

  3. NM_001377228.1 → NP_001364157.1  protein dispatched homolog 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC093152, AL392172
    Consensus CDS
    CCDS1536.1
    UniProtKB/Swiss-Prot
    Q8N7C2, Q96F81, Q96I92, Q9H698, Q9H8H9, Q9UFA2
    Related
    ENSP00000501574.1, ENST00000675039.1
    Conserved Domains (1) summary
    cl25655
    Location:435 → 1131
    Patched; Patched family

  4. NM_001377229.1 → NP_001364158.1  protein dispatched homolog 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC093152, AL392172
    Consensus CDS
    CCDS1536.1
    UniProtKB/Swiss-Prot
    Q8N7C2, Q96F81, Q96I92, Q9H698, Q9H8H9, Q9UFA2
    Related
    ENSP00000502357.1, ENST00000675850.1
    Conserved Domains (1) summary
    cl25655
    Location:435 → 1131
    Patched; Patched family

  5. NM_032890.5 → NP_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
    Q8N7C2, Q96F81, Q96I92, Q9H698, Q9H8H9, Q9UFA2
    Conserved Domains (1) summary
    cl25655
    Location:435 → 1131
    Patched; Patched family

RNA

  1. NR_165109.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  2. NR_165110.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  3. NR_165111.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  4. NR_165112.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172
    Related
    ENST00000450784.5

  5. NR_165113.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172
    Related
    ENST00000442171.6

  6. NR_165114.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  7. NR_165115.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  8. NR_165116.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  9. NR_165117.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172
    Related
    ENST00000435378.6

  10. NR_165118.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172
    Related
    ENST00000426045.5

  11. NR_165119.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  12. NR_165120.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  13. NR_165121.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172
    Related
    ENST00000657452.2

  14. NR_165122.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  15. NR_165123.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  16. NR_165124.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  17. NR_165125.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172
    Related
    ENST00000654502.1

  18. NR_165126.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  19. NR_165127.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  20. NR_165128.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  21. NR_165129.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  22. NR_165130.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  23. NR_165131.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  24. NR_165132.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  25. NR_165133.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  26. NR_165134.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  27. NR_165135.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  28. NR_165136.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  29. NR_165137.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  30. NR_165138.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  31. NR_165139.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  32. NR_165140.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  33. NR_165141.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  34. NR_165142.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  35. NR_165143.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172
    Related
    ENST00000434872.2

  36. NR_165144.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172
    Related
    ENST00000457636.5

  37. NR_165145.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  38. NR_165146.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  39. NR_165147.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  40. NR_165148.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  41. NR_165149.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  42. NR_165150.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  43. NR_165151.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  44. NR_165152.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  45. NR_165153.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  46. NR_165154.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  47. NR_165155.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172
    Related
    ENST00000661663.1

  48. NR_165156.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172

  49. NR_165157.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL392172
    Related
    ENST00000663328.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    222815039..223005995
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510075.3 → XP_011508377.1  protein dispatched homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_011508377.1

    UniProtKB/Swiss-Prot
    Q8N7C2, Q96F81, Q96I92, Q9H698, Q9H8H9, Q9UFA2
    Conserved Domains (1) summary
    cl25655
    Location:435 → 1131
    Patched; Patched family

  2. XM_011510073.3 → XP_011508375.1  protein dispatched homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_011508375.1

    UniProtKB/Swiss-Prot
    Q8N7C2, Q96F81, Q96I92, Q9H698, Q9H8H9, Q9UFA2
    Conserved Domains (1) summary
    cl25655
    Location:435 → 1131
    Patched; Patched family

  3. XM_017002611.2 → XP_016858100.1  protein dispatched homolog 1 isoform X1

    UniProtKB/Swiss-Prot
    Q8N7C2, Q96F81, Q96I92, Q9H698, Q9H8H9, Q9UFA2
    Conserved Domains (1) summary
    cl25655
    Location:435 → 1131
    Patched; Patched family

  4. XM_011510074.3 → XP_011508376.1  protein dispatched homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_011508376.1

    UniProtKB/Swiss-Prot
    Q8N7C2, Q96F81, Q96I92, Q9H698, Q9H8H9, Q9UFA2
    Conserved Domains (1) summary
    cl25655
    Location:435 → 1131
    Patched; Patched family

  5. XM_011510072.3 → XP_011508374.1  protein dispatched homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_011508374.1

    UniProtKB/Swiss-Prot
    Q8N7C2, Q96F81, Q96I92, Q9H698, Q9H8H9, Q9UFA2
    Conserved Domains (1) summary
    cl25655
    Location:435 → 1131
    Patched; Patched family

  6. XM_047432763.1 → XP_047288719.1  protein dispatched homolog 1 isoform X1

    UniProtKB/Swiss-Prot
    Q8N7C2, Q96F81, Q96I92, Q9H698, Q9H8H9, Q9UFA2

  7. XM_006711592.3 → XP_006711655.1  protein dispatched homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_006711655.1

    UniProtKB/Swiss-Prot
    Q8N7C2, Q96F81, Q96I92, Q9H698, Q9H8H9, Q9UFA2
    Conserved Domains (1) summary
    cl25655
    Location:435 → 1131
    Patched; Patched family

  8. XM_017002612.2 → XP_016858101.1  protein dispatched homolog 1 isoform X2

    UniProtKB/TrEMBL
    B3KPN9
    Conserved Domains (2) summary
    pfam02460
    Location:262 → 899
    Patched; Patched family
    cl21543
    Location:313 → 477
    MMPL; MMPL family

  9. XM_006711594.4 → XP_006711657.1  protein dispatched homolog 1 isoform X2

    See identical proteins and their annotated locations for XP_006711657.1

    UniProtKB/TrEMBL
    B3KPN9
    Conserved Domains (2) summary
    pfam02460
    Location:262 → 899
    Patched; Patched family
    cl21543
    Location:313 → 477
    MMPL; MMPL family

  10. XM_047432774.1 → XP_047288730.1  protein dispatched homolog 1 isoform X2

    UniProtKB/TrEMBL
    B3KPN9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    222048788..222239862
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339286.1 → XP_054195261.1  protein dispatched homolog 1 isoform X1

  2. XM_054339283.1 → XP_054195258.1  protein dispatched homolog 1 isoform X1

  3. XM_054339281.1 → XP_054195256.1  protein dispatched homolog 1 isoform X1

  4. XM_054339285.1 → XP_054195260.1  protein dispatched homolog 1 isoform X1

  5. XM_054339282.1 → XP_054195257.1  protein dispatched homolog 1 isoform X1

  6. XM_054339287.1 → XP_054195262.1  protein dispatched homolog 1 isoform X1

  7. XM_054339284.1 → XP_054195259.1  protein dispatched homolog 1 isoform X1

  8. XM_054339290.1 → XP_054195265.1  protein dispatched homolog 1 isoform X2

    UniProtKB/TrEMBL
    B3KPN9

  9. XM_054339288.1 → XP_054195263.1  protein dispatched homolog 1 isoform X2

    UniProtKB/TrEMBL
    B3KPN9

  10. XM_054339289.1 → XP_054195264.1  protein dispatched homolog 1 isoform X2

    UniProtKB/TrEMBL
    B3KPN9
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96F81.3 GenPept UniProtKB/Swiss-Prot:Q96F81

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