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    DOCK11 dedicator of cytokinesis 11 [ Homo sapiens (human) ]

    Gene ID: 139818, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DOCK11provided by HGNC
    Official Full Name
    dedicator of cytokinesis 11provided by HGNC
    Primary source
    HGNC:HGNC:23483
    See related
    Ensembl:ENSG00000147251 MIM:300681; AllianceGenome:HGNC:23483
    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
    ACG; ZIZ2; ADMIDX; bB128O4.1
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Involved in positive regulation of filopodium assembly. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in fat (RPKM 20.0), lymph node (RPKM 11.7) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DOCK11 in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    57
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (118495815..118686147)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (116873439..117063900)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (117629778..117820110)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L12 pseudogene 43 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:117428183-117428684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:117428685-117429184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29870 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:117480201-117480744 Neighboring gene NANOG hESC enhancer GRCh37_chrX:117482240-117482834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29871 Neighboring gene WD repeat domain 44 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:117552299-117552834 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:117552835-117553370 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:117559181-117559398 Neighboring gene microRNA 1277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:117629588-117630566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29877 Neighboring gene Sharpr-MPRA regulatory region 12264 Neighboring gene RBBP8 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:117831262-117831491 Neighboring gene uncharacterized LOC124905207 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20950 Neighboring gene small nucleolar RNA SNORA35 Neighboring gene interleukin 13 receptor subunit alpha 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
    • 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. DOCK11 and Immune Disease. Tangye SG, et al. N Engl J Med, 2023 Aug 10. PMID 37590454
    2. DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity. Boussard C, et al. Blood, 2023 Jun 1. PMID 36952639
    3. Identification of a DOCK180-related guanine nucleotide exchange factor that is capable of mediating a positive feedback activation of Cdc42. Lin Q, et al. J Biol Chem, 2006 Nov 17. PMID 16968698
    4. DOCK11 and DENND2A play pivotal roles in the maintenance of hepatitis B virus in host cells. Hashimoto S, et al. PLoS One, 2021. PMID 33539396, Free PMC Article
    5. Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency. Block J, et al. N Engl J Med, 2023 Aug 10. PMID 37342957

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DOCK11 and Immune Disease.
      Title: DOCK11 and Immune Disease.
    2. Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
      Title: Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
    3. DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
      Title: DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
    4. DOCK11 and DENND2A play pivotal roles in the maintenance of hepatitis B virus in host cells.
      Title: DOCK11 and DENND2A play pivotal roles in the maintenance of hepatitis B virus in host cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autoinflammatory disease, multisystem, with immune dysregulation, X-linked
    MedGen: C5829577 OMIM: 301109 GeneReviews: Not available
    		not available

    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

    • FLJ32122, FLJ43653

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in B cell homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in marginal zone B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of filopodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of filopodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of filopodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in small GTPase-mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    dedicator of cytokinesis protein 11
    Names
    Activated Cdc42-associated guanine nucleotide exchange factor, ACG
    zizimin-2
    zizimin2

    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_144658.4 → NP_653259.3  dedicator of cytokinesis protein 11

      See identical proteins and their annotated locations for NP_653259.3

      Status: VALIDATED

      Source sequence(s)
      AC007021, AK124735, AY692226
      Consensus CDS
      CCDS35373.1
      UniProtKB/Swiss-Prot
      A6NMF0, Q5JSL3, Q66M66, Q6ZUJ5, Q86VU8, Q96MN3
      UniProtKB/TrEMBL
      A6NIW2
      Related
      ENSP00000276202.7, ENST00000276202.9
      Conserved Domains (5) summary
      cd08697
      Location:639 → 828
      C2_Dock-D; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11700
      Location:1615 → 2027
      DHR2_DOCK11; Dock Homology Region 2, a GEF domain, of Class D Dedicator of Cytokinesis 11
      cd13267
      Location:161 → 284
      PH_DOCK-D; Dedicator of cytokinesis-D subfamily Pleckstrin homology (PH) domain
      pfam00169
      Location:166 → 271
      PH; PH domain
      pfam11878
      Location:54 → 145
      DUF3398; Domain of unknown function (DUF3398)

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      118495815..118686147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262368.5 → XP_005262425.1  dedicator of cytokinesis protein 11 isoform X1

      UniProtKB/TrEMBL
      A6NIW2
      Conserved Domains (5) summary
      cd08697
      Location:639 → 828
      C2_Dock-D; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11700
      Location:1628 → 2040
      DHR2_DOCK11; Dock Homology Region 2, a GEF domain, of Class D Dedicator of Cytokinesis 11
      cd13267
      Location:161 → 284
      PH_DOCK-D; Dedicator of cytokinesis-D subfamily Pleckstrin homology (PH) domain
      pfam00169
      Location:166 → 271
      PH; PH domain
      pfam11878
      Location:54 → 145
      DUF3398; Domain of unknown function (DUF3398)

    2. XM_011531276.4 → XP_011529578.1  dedicator of cytokinesis protein 11 isoform X2

      UniProtKB/TrEMBL
      A6NIW2
      Related
      ENSP00000487829.1, ENST00000633080.1
      Conserved Domains (5) summary
      cd08697
      Location:615 → 804
      C2_Dock-D; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11700
      Location:1604 → 2016
      DHR2_DOCK11; Dock Homology Region 2, a GEF domain, of Class D Dedicator of Cytokinesis 11
      cd13267
      Location:137 → 260
      PH_DOCK-D; Dedicator of cytokinesis-D subfamily Pleckstrin homology (PH) domain
      pfam00169
      Location:142 → 247
      PH; PH domain
      pfam11878
      Location:30 → 121
      DUF3398; Domain of unknown function (DUF3398)

    3. XM_005262369.6 → XP_005262426.1  dedicator of cytokinesis protein 11 isoform X3

      UniProtKB/TrEMBL
      A6NIW2
      Conserved Domains (5) summary
      cd08697
      Location:608 → 797
      C2_Dock-D; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11700
      Location:1597 → 2009
      DHR2_DOCK11; Dock Homology Region 2, a GEF domain, of Class D Dedicator of Cytokinesis 11
      cd13267
      Location:130 → 253
      PH_DOCK-D; Dedicator of cytokinesis-D subfamily Pleckstrin homology (PH) domain
      pfam00169
      Location:135 → 240
      PH; PH domain
      pfam11878
      Location:23 → 114
      DUF3398; Domain of unknown function (DUF3398)

    4. XM_047441841.1 → XP_047297797.1  dedicator of cytokinesis protein 11 isoform X4

    5. XM_011531278.3 → XP_011529580.1  dedicator of cytokinesis protein 11 isoform X5

      Conserved Domains (2) summary
      cd08697
      Location:11 → 200
      C2_Dock-D; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11700
      Location:1000 → 1412
      DHR2_DOCK11; Dock Homology Region 2, a GEF domain, of Class D Dedicator of Cytokinesis 11

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      116873439..117063900
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326506.1 → XP_054182481.1  dedicator of cytokinesis protein 11 isoform X1

    2. XM_054326507.1 → XP_054182482.1  dedicator of cytokinesis protein 11 isoform X2

    3. XM_054326508.1 → XP_054182483.1  dedicator of cytokinesis protein 11 isoform X3

    4. XM_054326509.1 → XP_054182484.1  dedicator of cytokinesis protein 11 isoform X4

    5. XM_054326510.1 → XP_054182485.1  dedicator of cytokinesis protein 11 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JSL3.2 GenPept UniProtKB/Swiss-Prot:Q5JSL3

    Gene LinkOut

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

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