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    CDC42SE1 CDC42 small effector 1 [ Homo sapiens (human) ]

    Gene ID: 56882, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CDC42SE1provided by HGNC
    Official Full Name
    CDC42 small effector 1provided by HGNC
    Primary source
    HGNC:HGNC:17719
    See related
    Ensembl:ENSG00000197622 MIM:619456; AllianceGenome:HGNC:17719
    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
    SCIP1; SPEC1
    Summary
    Predicted to enable GTPase inhibitor activity. Predicted to be involved in signal transduction. Located in cell junction. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 61.6), lymph node (RPKM 60.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CDC42SE1 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151050985..151059622, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150174667..150183297, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151023461..151032098, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene prune exopolyphosphatase 1 Neighboring gene RNA, U6 small nuclear 884, pseudogene Neighboring gene BCL2 interacting protein like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1705 Neighboring gene chromosome 1 open reading frame 56 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1310 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:151032419-151033010 Neighboring gene MLLT11 transcription factor 7 cofactor Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151042752-151043686 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151043687-151044621 Neighboring gene GA binding protein transcription factor subunit beta 2 Neighboring gene ribosomal protein S29 pseudogene 29

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CDC42SE1 is downregulated in skin cancer to promote tumorigenesis.
      Title: Overexpression of CDC42SE1 in A431 Cells Reduced Cell Proliferation by Inhibiting the Akt Pathway.
    2. Overexpression studies of the related SPEC1 showed that it also was recruited to the activated TCR. Mutational analysis revealed that localization of SPEC1 to the TCR required two N-terminal cysteine residues
      Title: The role of SPECs, small Cdc42-binding proteins, in F-actin accumulation at the immunological synapse.
    Submit: New GeneRIF Correction

    Phenotypes

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    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 GTPase inhibitor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 phagocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of Rho protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    CDC42 small effector protein 1
    Names
    1300002M12Rik
    CDC42-binding protein SCIP1
    signaling molecule SPEC1 beta
    small effector of CDC42 protein 1
    small protein effector 1 of Cdc42

    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_001038707.2 → NP_001033796.1  CDC42 small effector protein 1

      See identical proteins and their annotated locations for NP_001033796.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL590133, BC012796, BP340339, BX339337
      Consensus CDS
      CCDS981.1
      UniProtKB/Swiss-Prot
      D3DV12, Q9HB17, Q9NQR2, Q9NRR8
      Related
      ENSP00000445647.1, ENST00000540998.5
      Conserved Domains (1) summary
      cl00113
      Location:29 → 67
      CRIB; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...

    2. NM_020239.4 → NP_064624.1  CDC42 small effector protein 1

      See identical proteins and their annotated locations for NP_064624.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL590133, BC012796, BP340339
      Consensus CDS
      CCDS981.1
      UniProtKB/Swiss-Prot
      D3DV12, Q9HB17, Q9NQR2, Q9NRR8
      Related
      ENSP00000349773.4, ENST00000357235.6
      Conserved Domains (1) summary
      cl00113
      Location:29 → 67
      CRIB; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      151050985..151059622 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001847.3 → XP_016857336.1  CDC42 small effector protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DV12, Q9HB17, Q9NQR2, Q9NRR8
      Conserved Domains (1) summary
      cl00113
      Location:29 → 67
      CRIB; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      150174667..150183297 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337751.1 → XP_054193726.1  CDC42 small effector protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DV12, Q9HB17, Q9NQR2, Q9NRR8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRR8.1 GenPept UniProtKB/Swiss-Prot:Q9NRR8

    Gene LinkOut

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

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