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

Summary

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: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (151050985..151059622, complement)
110	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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CDC42SE1 is downregulated in skin cancer to promote tumorigenesis.
Title: Overexpression of CDC42SE1 in A431 Cells Reduced Cell Proliferation by Inhibiting the Akt Pathway.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93368 (e-PCR)
- UniSTS:90648

WI-17680 (e-PCR)
- UniSTS:18982

RH98209 (e-PCR)
- UniSTS:91769

SHGC-37116 (e-PCR)
- UniSTS:2684

RH69823 (e-PCR)
- UniSTS:20101

RH79564 (e-PCR)
- UniSTS:91105

Homology

Homologs of the CDC42SE1 gene: The CDC42SE1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 405 organisms have orthologs with human gene CDC42SE1
Orthologs

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 negative regulation of catalytic activity	IEA Inferred from Electronic Annotation more info
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	PubMed

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)

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

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 ...
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

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: Homo sapiens Annotation Release 110 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

151050985..151059622 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

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 ...