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

Gene ID: 139818, updated on 7-Apr-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. Predicted to be involved in several processes, including marginal zone B cell differentiation; positive regulation of GTPase activity; and positive regulation of filopodium assembly. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in fat (RPKM 20.0), lymph node (RPKM 11.7) and 19 other tissues See more
Orthologs
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Genomic context

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Location:
Xq24
Exon count:
57
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (118495815..118686147)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (116873439..117063900)
105.20220307 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 deficiency in patients with X-linked actinopathy and autoimmunity. Boussard C, et al. Blood, 2023 Jun 1. PMID 36952639
  2. 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
  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. Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity. Côté JF, et al. J Cell Sci, 2002 Dec 15. PMID 12432077
  5. Coronin-1C and RCC2 guide mesenchymal migration by trafficking Rac1 and controlling GEF exposure. Williamson RC, et al. J Cell Sci, 2014 Oct 1. PMID 25074804, Free PMC Article

See all (28) 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)

Genotypes

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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
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 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_2023_10

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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