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    DOCK3 dedicator of cytokinesis 3 [ Homo sapiens (human) ]

    Gene ID: 1795, updated on 2-Nov-2024

    Summary

    Official Symbol
    DOCK3provided by HGNC
    Official Full Name
    dedicator of cytokinesis 3provided by HGNC
    Primary source
    HGNC:HGNC:2989
    See related
    Ensembl:ENSG00000088538 MIM:603123; AllianceGenome:HGNC:2989
    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
    PBP; MOCA; NEDIDHA
    Summary
    This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010]
    Expression
    Biased expression in brain (RPKM 7.9), thyroid (RPKM 4.0) and 6 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See DOCK3 in Genome Data Viewer
    Location:
    3p21.2
    Exon count:
    61
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (50674927..51384198)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (50704905..51414618)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50712358..51421629)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19913 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50654302-50655255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50655256-50656208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14405 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50662917-50663693 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50684509-50685008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50686500-50687053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50689443-50690376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50688509-50689442 Neighboring gene MAPK activated protein kinase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14406 Neighboring gene long intergenic non-protein coding RNA 2019 Neighboring gene cytokine inducible SH2 containing protein Neighboring gene microRNA 4787 Neighboring gene peptidylprolyl isomerase A pseudogene 69 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:50828090-50828836 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50855181-50855760 Neighboring gene zinc finger protein 652 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19915 Neighboring gene NANOG hESC enhancer GRCh37_chr3:50928312-50928861 Neighboring gene Sharpr-MPRA regulatory region 894 Neighboring gene ST13, Hsp70 interacting protein pseudogene 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14407 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:51263456-51264655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:51377300-51378184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19917 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14411 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51430225-51430730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51430731-51431238 Neighboring gene RNA binding motif protein 15B Neighboring gene DDB1 and CUL4 associated factor 1 Neighboring gene mesencephalic astrocyte derived neurotrophic factor

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
    MedGen: C4749014 OMIM: 618292 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Identification of a melanoma susceptibility locus and somatic mutation in TET2.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0299

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    dedicator of cytokinesis protein 3
    Names
    modifier of cell adhesion
    presenilin-binding protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_028012.2 RefSeqGene

      Range
      4687..713958
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004947.5NP_004938.1  dedicator of cytokinesis protein 3

      See identical proteins and their annotated locations for NP_004938.1

      Status: REVIEWED

      Source sequence(s)
      AC096920, AY254099, BC045793
      Consensus CDS
      CCDS46835.1
      UniProtKB/Swiss-Prot
      O15017, Q8IZD9
      UniProtKB/TrEMBL
      A0A2X0SFH6
      Related
      ENSP00000266037.8, ENST00000266037.10
      Conserved Domains (4) summary
      cd08695
      Location:420609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:12351626
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:1065
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam16172
      Location:69412
      DOCK_N; DOCK N-terminus

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      50674927..51384198
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264914.4XP_005264971.1  dedicator of cytokinesis protein 3 isoform X1

      UniProtKB/TrEMBL
      A0A2X0SFH6
      Conserved Domains (4) summary
      cd08695
      Location:420609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:12351626
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:1065
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam16172
      Location:69412
      DOCK_N; DOCK N-terminus
    2. XM_006713010.4XP_006713073.1  dedicator of cytokinesis protein 3 isoform X19

      UniProtKB/TrEMBL
      A0A2X0SFH6
      Conserved Domains (4) summary
      cd08695
      Location:420609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:12351626
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:1065
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam16172
      Location:69412
      DOCK_N; DOCK N-terminus
    3. XM_005264915.4XP_005264972.1  dedicator of cytokinesis protein 3 isoform X2

      UniProtKB/TrEMBL
      A0A2X0SFH6
      Conserved Domains (4) summary
      cd08695
      Location:420609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:12351626
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:1065
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam16172
      Location:69412
      DOCK_N; DOCK N-terminus
    4. XM_017005825.3XP_016861314.1  dedicator of cytokinesis protein 3 isoform X9

      UniProtKB/TrEMBL
      A0A2X0SFH6
    5. XM_006713008.4XP_006713071.1  dedicator of cytokinesis protein 3 isoform X5

      UniProtKB/TrEMBL
      A0A2X0SFH6
      Conserved Domains (4) summary
      cd08695
      Location:420609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:12351626
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:1065
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam16172
      Location:69412
      DOCK_N; DOCK N-terminus
    6. XM_047447600.1XP_047303556.1  dedicator of cytokinesis protein 3 isoform X14

    7. XM_006713009.4XP_006713072.1  dedicator of cytokinesis protein 3 isoform X8

      UniProtKB/TrEMBL
      A0A2X0SFH6
      Conserved Domains (4) summary
      cd08695
      Location:420609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd12048
      Location:1065
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam16172
      Location:69412
      DOCK_N; DOCK N-terminus
      cl06123
      Location:12351597
      DHR2_DOCK; Dock Homology Region 2, a GEF domain, of Dedicator of Cytokinesis proteins
    8. XM_047447602.1XP_047303558.1  dedicator of cytokinesis protein 3 isoform X16

    9. XM_047447603.1XP_047303559.1  dedicator of cytokinesis protein 3 isoform X17

    10. XM_005264916.5XP_005264973.1  dedicator of cytokinesis protein 3 isoform X3

      UniProtKB/TrEMBL
      A0A2X0SFH6
      Conserved Domains (4) summary
      cd08695
      Location:420609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:12261617
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:1065
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam16172
      Location:69412
      DOCK_N; DOCK N-terminus
    11. XM_047447597.1XP_047303553.1  dedicator of cytokinesis protein 3 isoform X11

    12. XM_047447598.1XP_047303554.1  dedicator of cytokinesis protein 3 isoform X12

    13. XM_047447604.1XP_047303560.1  dedicator of cytokinesis protein 3 isoform X20

    14. XM_005264917.4XP_005264974.1  dedicator of cytokinesis protein 3 isoform X4

      UniProtKB/TrEMBL
      A0A2X0SFH6
      Conserved Domains (4) summary
      cd08695
      Location:420609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:12211612
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:1065
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam16172
      Location:69412
      DOCK_N; DOCK N-terminus
    15. XM_047447595.1XP_047303551.1  dedicator of cytokinesis protein 3 isoform X6

    16. XM_047447596.1XP_047303552.1  dedicator of cytokinesis protein 3 isoform X7

    17. XM_047447601.1XP_047303557.1  dedicator of cytokinesis protein 3 isoform X15

    18. XM_005264918.5XP_005264975.1  dedicator of cytokinesis protein 3 isoform X10

      UniProtKB/TrEMBL
      A0A2X0SFH6
      Conserved Domains (4) summary
      cd08695
      Location:420609
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:11861577
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cd12048
      Location:1065
      SH3_DOCK3_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 3
      pfam16172
      Location:69412
      DOCK_N; DOCK N-terminus
    19. XM_047447599.1XP_047303555.1  dedicator of cytokinesis protein 3 isoform X13

    20. XM_017005826.3XP_016861315.1  dedicator of cytokinesis protein 3 isoform X18

      UniProtKB/TrEMBL
      A0A2X0SFH6
    21. XM_047447605.1XP_047303561.1  dedicator of cytokinesis protein 3 isoform X21

    22. XM_017005827.3XP_016861316.1  dedicator of cytokinesis protein 3 isoform X22

      UniProtKB/TrEMBL
      A0A2X0SFH6
    23. XM_047447606.1XP_047303562.1  dedicator of cytokinesis protein 3 isoform X24

    24. XM_011533441.4XP_011531743.1  dedicator of cytokinesis protein 3 isoform X23

      UniProtKB/TrEMBL
      A0A2X0SFH6
      Conserved Domains (3) summary
      cd08695
      Location:75264
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11704
      Location:8901281
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      pfam16172
      Location:267
      DOCK_N; DOCK N-terminus
    25. XM_011533443.3XP_011531745.1  dedicator of cytokinesis protein 3 isoform X25

      See identical proteins and their annotated locations for XP_011531745.1

      Conserved Domains (2) summary
      cd11704
      Location:339730
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cl09913
      Location:233349
      Csn2_like; CRISPR/Cas system-associated protein Csn2
    26. XM_011533445.3XP_011531747.1  dedicator of cytokinesis protein 3 isoform X26

      Conserved Domains (2) summary
      cd11704
      Location:281672
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cl09913
      Location:175291
      Csn2_like; CRISPR/Cas system-associated protein Csn2
    27. XM_011533444.3XP_011531746.1  dedicator of cytokinesis protein 3 isoform X25

      See identical proteins and their annotated locations for XP_011531746.1

      Conserved Domains (2) summary
      cd11704
      Location:339730
      DHR2_DOCK3; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 3
      cl09913
      Location:233349
      Csn2_like; CRISPR/Cas system-associated protein Csn2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      50704905..51414618
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345503.1XP_054201478.1  dedicator of cytokinesis protein 3 isoform X1

    2. XM_054345521.1XP_054201496.1  dedicator of cytokinesis protein 3 isoform X19

    3. XM_054345504.1XP_054201479.1  dedicator of cytokinesis protein 3 isoform X2

    4. XM_054345511.1XP_054201486.1  dedicator of cytokinesis protein 3 isoform X9

    5. XM_054345507.1XP_054201482.1  dedicator of cytokinesis protein 3 isoform X5

    6. XM_054345516.1XP_054201491.1  dedicator of cytokinesis protein 3 isoform X14

    7. XM_054345510.1XP_054201485.1  dedicator of cytokinesis protein 3 isoform X8

    8. XM_054345518.1XP_054201493.1  dedicator of cytokinesis protein 3 isoform X16

    9. XM_054345519.1XP_054201494.1  dedicator of cytokinesis protein 3 isoform X17

    10. XM_054345505.1XP_054201480.1  dedicator of cytokinesis protein 3 isoform X3

    11. XM_054345513.1XP_054201488.1  dedicator of cytokinesis protein 3 isoform X11

    12. XM_054345514.1XP_054201489.1  dedicator of cytokinesis protein 3 isoform X12

    13. XM_054345522.1XP_054201497.1  dedicator of cytokinesis protein 3 isoform X20

    14. XM_054345506.1XP_054201481.1  dedicator of cytokinesis protein 3 isoform X4

    15. XM_054345508.1XP_054201483.1  dedicator of cytokinesis protein 3 isoform X6

    16. XM_054345509.1XP_054201484.1  dedicator of cytokinesis protein 3 isoform X7

    17. XM_054345517.1XP_054201492.1  dedicator of cytokinesis protein 3 isoform X15

    18. XM_054345512.1XP_054201487.1  dedicator of cytokinesis protein 3 isoform X10

    19. XM_054345515.1XP_054201490.1  dedicator of cytokinesis protein 3 isoform X13

    20. XM_054345520.1XP_054201495.1  dedicator of cytokinesis protein 3 isoform X18

    21. XM_054345529.1XP_054201504.1  dedicator of cytokinesis protein 3 isoform X27

    22. XM_054345523.1XP_054201498.1  dedicator of cytokinesis protein 3 isoform X21

    23. XM_054345524.1XP_054201499.1  dedicator of cytokinesis protein 3 isoform X22

    24. XM_054345526.1XP_054201501.1  dedicator of cytokinesis protein 3 isoform X24

    25. XM_054345525.1XP_054201500.1  dedicator of cytokinesis protein 3 isoform X23

    26. XM_054345527.1XP_054201502.1  dedicator of cytokinesis protein 3 isoform X25

    27. XM_054345530.1XP_054201505.1  dedicator of cytokinesis protein 3 isoform X26

    28. XM_054345528.1XP_054201503.1  dedicator of cytokinesis protein 3 isoform X25

    29. XM_054345531.1XP_054201506.1  dedicator of cytokinesis protein 3 isoform X26