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

Gene ID: 56882, updated on 23-Nov-2023

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, Apr 2022]
Expression
Ubiquitous expression in spleen (RPKM 61.6), lymph node (RPKM 60.7) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151050985..151059622, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150174667..150183297, complement)
105.20220307 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
  • 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. Overexpression of CDC42SE1 in A431 Cells Reduced Cell Proliferation by Inhibiting the Akt Pathway. Kalailingam P, et al. Cells, 2019 Feb 2. PMID 30717410, Free PMC Article
  2. The role of SPECs, small Cdc42-binding proteins, in F-actin accumulation at the immunological synapse. Ching KH, et al. J Biol Chem, 2005 Jun 24. PMID 15840583
  3. Detection of peptides, proteins, and drugs that selectively interact with protein targets. Serebriiskii IG, et al. Genome Res, 2002 Nov. PMID 12421766, Free PMC Article
  4. SPECs, small binding proteins for Cdc42. Pirone DM, et al. J Biol Chem, 2000 Jul 28. PMID 10816584
  5. Protein array analysis of oligomerization-induced changes in alpha-synuclein protein-protein interactions points to an interference with Cdc42 effector proteins. Schnack C, et al. Neuroscience, 2008 Jul 17. PMID 18541383

See all (20) citations in PubMed

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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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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase inhibitor activity TAS
Traceable Author Statement
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_2023_10

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

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