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

Gene ID: 9980, updated on 2-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
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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)

Genotypes

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 molecular_function ND
No biological Data available
more info
  
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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