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    DOP1B DOP1 leucine zipper like protein B [ Homo sapiens (human) ]

    Gene ID: 9980, updated on 14-Nov-2024

    Summary

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    Official Symbol
    DOP1Bprovided by HGNC
    Official Full Name
    DOP1 leucine zipper like protein Bprovided by HGNC
    Primary source
    HGNC:HGNC:1291
    See related
    Ensembl:ENSG00000142197 MIM:604803; AllianceGenome:HGNC:1291
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    21orf5; DOPEY2; C21orf5
    Summary
    Involved in cognition and embryonic pattern specification. Located in early endosome membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in colon (RPKM 9.1), bone marrow (RPKM 8.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DOP1B in Genome Data Viewer
    Location:
    21q22.12
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (36156824..36294274)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (34539677..34676829)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (37529122..37666572)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:37506732-37507539 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:37507540-37508346 Neighboring gene CBR3 antisense RNA 1 Neighboring gene ribosomal protein S9 pseudogene 1 Neighboring gene carbonyl reductase 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:37527648-37528315 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:37528316-37528982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13281 Neighboring gene ribosomal protein L3 pseudogene 1 Neighboring gene uncharacterized LOC124905016 Neighboring gene Sharpr-MPRA regulatory region 3517 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:37582868-37583802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:37612237-37612736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:37618057-37618558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18432 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13283 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:37668114-37668355 Neighboring gene serine and arginine rich splicing factor 9 pseudogene 1 Neighboring gene ribosomal protein S26 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. C21orf5, a human candidate gene for brain abnormalities and mental retardation in Down syndrome. Rachidi M, et al. Cytogenet Genome Res, 2006. PMID 16276086
    2. A quantitative assessment of gene expression (QAGE) reveals differential overexpression of DOPEY2, a candidate gene for mental retardation, in Down syndrome brain regions. Rachidi M, et al. Int J Dev Neurosci, 2009 Jun. PMID 19460634
    3. A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family. Darbari E, et al. Mol Vis, 2020. PMID 33273802, Free PMC Article
    4. C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning. Guipponi M, et al. Genomics, 2000 Aug 15. PMID 10950924
    5. The differentially expressed C21orf5 gene in the medial temporal-lobe system could play a role in mental retardation in Down syndrome and transgenic mice. Lopes C, et al. Biochem Biophys Res Commun, 2003 Jun 13. PMID 12767918

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family.
      Title: A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family.
    2. an evolutionary conserved MON2:DOPEY2:ATP9A complex is required for SNX3 retromer mediation of Wntless sorting and Wnt secretion
      Title: SNX3-retromer requires an evolutionary conserved MON2:DOPEY2:ATP9A complex to mediate Wntless sorting and Wnt secretion.
    3. 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.
    4. Results quantify and statistically analyze, for the first time, DOPEY2 expression variations in different regions of the Down syndrome human fetal brains and to compare them to corresponding normal brains.
      Title: A quantitative assessment of gene expression (QAGE) reveals differential overexpression of DOPEY2, a candidate gene for mental retardation, in Down syndrome brain regions.
    5. C21orf5, could play a role in brain morphogenesis and, when overexpressed, it could participate in neurological features and mental retardation observed in DS patients.
      Title: C21orf5, a new member of Dopey family involved in morphogenesis, could participate in neurological alterations and mental retardation in Down syndrome.
    6. The differentially expressed C21orf5 gene in the medial temporal-lobe system could play a role in Down syndrome.
      Title: The differentially expressed C21orf5 gene in the medial temporal-lobe system could play a role in mental retardation in Down syndrome and transgenic mice.
    7. C21orf5 selective expression in the key brain structures for learning and memory suggests that C21orf5 overexpression could participate in mental retardation pathogenesis in Down syndrome patients.
      Title: C21orf5, a human candidate gene for brain abnormalities and mental retardation in Down syndrome.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi to endosome transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in cognition IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in embryonic pattern specification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endoplasmic reticulum organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein DOP1B; protein dopey-2
    Names
    dopey family member 2
    homolog of yeast DOP1

    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.

    mRNA and Protein(s)

    1. NM_001320714.2 → NP_001307643.1  protein DOP1B

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB023150, AP000689, AP000690, AP000691, AP000692, BP364624, BP365117, W15495
      Consensus CDS
      CCDS13643.1
      UniProtKB/Swiss-Prot
      D3DSG5, Q6PJQ7, Q9UEZ3, Q9Y3R5
      Related
      ENSP00000509598.1, ENST00000691173.1
      Conserved Domains (2) summary
      pfam04118
      Location:13 → 308
      Dopey_N; Dopey, N-terminal
      cl04407
      Location:1951 → 2107
      Dopey_N; Dopey, N-terminal

    2. NM_005128.4 → NP_005119.2  protein DOP1B

      See identical proteins and their annotated locations for NP_005119.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AJ237839, AP000689, AP000690, AP000691, BC012791, W15495
      Consensus CDS
      CCDS13643.1
      UniProtKB/Swiss-Prot
      D3DSG5, Q6PJQ7, Q9UEZ3, Q9Y3R5
      Related
      ENSP00000382104.3, ENST00000399151.3
      Conserved Domains (2) summary
      pfam04118
      Location:13 → 308
      Dopey_N; Dopey, N-terminal
      cl04407
      Location:1951 → 2107
      Dopey_N; Dopey, N-terminal

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      36156824..36294274
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028509.2 → XP_016883998.1  protein dopey-2 isoform X1

    RNA

    1. XR_937581.4 RNA Sequence

      Related
      ENST00000685394.1

    2. XR_007067795.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      34539677..34676829
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324968.1 → XP_054180943.1  protein dopey-2 isoform X1

    RNA

    1. XR_008485346.1 RNA Sequence

    2. XR_008485347.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y3R5.5 GenPept UniProtKB/Swiss-Prot:Q9Y3R5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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