SKP1 S-phase kinase associated protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SKP1provided by HGNC
Official Full Name: S-phase kinase associated protein 1provided by HGNC
Primary source: HGNC:HGNC:10899
See related: Ensembl:ENSG00000113558 MIM:601434; AllianceGenome:HGNC:10899
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: OCP2; p19A; EMC19; SKP1A; OCP-II; TCEB1L
Summary: This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 102.0), thyroid (RPKM 75.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (134148935..134176950, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (134672565..134700570, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (133484626..133512641, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

DNMT1-mediated regulating on FBXO32 promotes the progression of glioma cells through the regulation of SKP1 activity.
Title: DNMT1-mediated regulating on FBXO32 promotes the progression of glioma cells through the regulation of SKP1 activity.
A noncanonical function of SKP1 regulates the switch between autophagy and unconventional secretion.
Title: A noncanonical function of SKP1 regulates the switch between autophagy and unconventional secretion.
The Skp1-Cullin1-FBXO1 complex is a pleiotropic regulator required for the formation of gametes and motile forms in Plasmodium berghei.
Title: The Skp1-Cullin1-FBXO1 complex is a pleiotropic regulator required for the formation of gametes and motile forms in Plasmodium berghei.
A Comprehensive Assessment of Genetic and Epigenetic Alterations Identifies Frequent Variations Impacting Six Prototypic SCF Complex Members.
Title: A Comprehensive Assessment of Genetic and Epigenetic Alterations Identifies Frequent Variations Impacting Six Prototypic SCF Complex Members.
Reduced SKP1 and CUL1 expression underlies increases in Cyclin E1 and chromosome instability in cellular precursors of high-grade serous ovarian cancer.
Title: Reduced SKP1 and CUL1 expression underlies increases in Cyclin E1 and chromosome instability in cellular precursors of high-grade serous ovarian cancer.
Long non-coding RNA CCDC183-AS1 acts AS a miR-589-5p sponge to promote the progression of hepatocellular carcinoma through regulating SKP1 expression.
Title: Long non-coding RNA CCDC183-AS1 acts AS a miR-589-5p sponge to promote the progression of hepatocellular carcinoma through regulating SKP1 expression.
Skp1 Dimerization Conceals Its F-Box Protein Binding Site.
Title: Skp1 Dimerization Conceals Its F-Box Protein Binding Site.
High SKP1 expression is associated with Lung Adenocarcinogenesis.
Title: Stratifin Inhibits SCF(FBW7) Formation and Blocks Ubiquitination of Oncoproteins during the Course of Lung Adenocarcinogenesis.
a novel role for SKP1 as an auxiliary component of the target recognition module that enhances binding of FBXO45 to NMNAT2.
Title: PAM forms an atypical SCF ubiquitin ligase complex that ubiquitinates and degrades NMNAT2.
Segregation analysis revealed that variants c.475T>G in SKP1, c.671G>A in PROB1, and c.527G>A in IL17B in the 5q31.1-q35.3 linkage region, and c.850G>A in HKDC1 in the 10q22 locus completely segregated with the phenotype in the studied Keratoconus family
Title: Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing.

Submit: New GeneRIF Correction See all GeneRIFs (39)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpu	vpu	HIV-1 Vpu is identified to have a physical interaction with S-phase kinase-associated protein 1 (SKP1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-13758 (e-PCR)
- UniSTS:12808

SHGC-5625 (e-PCR)
- UniSTS:87306

D4S2465E (e-PCR)
- UniSTS:150356

RH67782 (e-PCR)
- UniSTS:10889

STS-U37558 (e-PCR)
- UniSTS:44219

bac51513T (e-PCR)
- UniSTS:181475

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables F-box domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables beta-catenin binding	IDA Inferred from Direct Assay more info	PubMed
enables cullin family protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables cullin family protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular function activator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin ligase complex scaffold activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in maintenance of protein location in nucleus	IPI Inferred from Physical Interaction more info	PubMed
involved_in positive regulation of ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K48-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein monoubiquitination	IEA Inferred from Electronic Annotation more info
involved_in protein polyubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Cul7-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
part_of PcG protein complex	IDA Inferred from Direct Assay more info	PubMed
part_of SCF ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IC Inferred by Curator more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: S-phase kinase-associated protein 1

Names: OCP-2; RNA polymerase II elongation factor-like protein OCP2; SIII; cyclin A/CDK2-associated p19; cyclin-A/CDK2-associated protein p19; organ of Corti protein 2; organ of Corti protein II; p19skp1; transcription elongation factor B polypeptide 1-like

NP_008861.2

EC 3.1.1.3

NP_733779.1

EC 3.1.1.3

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_006930.4 → NP_008861.2 S-phase kinase-associated protein 1 isoform a

See identical proteins and their annotated locations for NP_008861.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript variant but encodes the shorter isoform (a).

Source sequence(s)

AI025746, AI028694, BC025673, BC065730, BI670085, BQ632052

Consensus CDS

CCDS4172.1

UniProtKB/TrEMBL

F8W8N3

Related

ENSP00000429472.1, ENST00000522552.5

Conserved Domains (3) summary

smart00512
Location:1 → 112

Skp1; Found in Skp1 protein family

COG5201
Location:1 → 153

SKP1; SCF ubiquitin ligase, SKP1 component [Posttranslational modification, protein turnover, chaperones]

pfam01466
Location:86 → 153

Skp1; Skp1 family, dimerization domain
NM_170679.3 → NP_733779.1 S-phase kinase-associated protein 1 isoform b

See identical proteins and their annotated locations for NP_733779.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) utilizes an alternate splice site in the 3' coding region, compared to variant 1. This results in a frameshift and slightly longer protein (isoform b), compared to isoform a.

Source sequence(s)

AC011336, AI025746, AI028694, BC065730, BQ632052, Z47087

Consensus CDS

CCDS4171.1

UniProtKB/Swiss-Prot

D3DQ97, D3DQ98, P34991, P63208, Q8TAY2

UniProtKB/TrEMBL

E5RJR5

Related

ENSP00000231487.9, ENST00000353411.11

Conserved Domains (2) summary

cd18322
Location:4 → 127

BTB_POZ_SKP1; BTB (Broad-Complex, Tramtrack and Bric a brac) /POZ (poxvirus and zinc finger) domain found in S-phase kinase-associated protein 1 (SKP1) and similar proteins

pfam01466
Location:113 → 160

Skp1; Skp1 family, dimerization domain