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    ARHGEF33 Rho guanine nucleotide exchange factor 33 [ Homo sapiens (human) ]

    Gene ID: 100271715, updated on 17-Jun-2024

    Summary

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    Official Symbol
    ARHGEF33provided by HGNC
    Official Full Name
    Rho guanine nucleotide exchange factor 33provided by HGNC
    Primary source
    HGNC:HGNC:37252
    See related
    Ensembl:ENSG00000214694 AllianceGenome:HGNC:37252
    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
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 1.6), brain (RPKM 0.5) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARHGEF33 in Genome Data Viewer
    Location:
    2p22.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (38889875..38975454)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (38898364..38983970)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (39117016..39202595)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:39102285-39103268 Neighboring gene RNA, U6 small nuclear 851, pseudogene Neighboring gene MORN repeat containing 2 Neighboring gene uncharacterized LOC105374471 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:39170060-39171010 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:39174178-39174678 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:39174679-39175179 Neighboring gene RNA, 7SL, cytoplasmic 96, pseudogene Neighboring gene uncharacterized LOC375196 Neighboring gene SOS Ras/Rac guanine nucleotide exchange factor 1 Neighboring gene MPRA-validated peak3669 silencer Neighboring gene RNA, U6 small nuclear 198, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11383 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 13

    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. Whole genome sequencing puts forward hypotheses on metastasis evolution and therapy in colorectal cancer. Ishaque N, et al. Nat Commun, 2018 Nov 14. PMID 30429477, Free PMC Article
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
    3. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528
    4. Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity. Kim JJ, et al. Genes Dev, 2019 Dec 1. PMID 31753913, Free PMC Article
    5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Hein MY, et al. Cell, 2015 Oct 22. PMID 26496610

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Potential readthrough

    Included gene: MORN2

    Homology

    Clone Names

    • FLJ41381

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    rho guanine nucleotide exchange factor 33
    Names
    DH and coiled-coil domain-containing protein ENSP00000381780
    Rho guanine nucleotide exchange factor (GEF) 33

    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_001145451.5 → NP_001138923.2  rho guanine nucleotide exchange factor 33 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC018693, AC019171
      Consensus CDS
      CCDS46263.2
      UniProtKB/TrEMBL
      A0A8V8TLC5
      Related
      ENSP00000387020.1, ENST00000409978.7
      Conserved Domains (1) summary
      cl02571
      Location:269 → 445
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

    2. NM_001367623.3 → NP_001354552.1  rho guanine nucleotide exchange factor 33 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC018693, AC019171
      UniProtKB/Swiss-Prot
      A8MVX0, J3KPX2
      UniProtKB/TrEMBL
      A0A8V8TLC5
      Conserved Domains (3) summary
      COG1196
      Location:21 → 127
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK12323
      Location:463 → 688
      PRK12323; DNA polymerase III subunit gamma/tau
      cl02571
      Location:269 → 436
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      38889875..38975454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      38898364..38983970
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MVX0.2 GenPept UniProtKB/Swiss-Prot:A8MVX0

    Gene LinkOut

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

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