ELOC elongin C [Homo sapiens (human)] - Gene

Summary

Official Symbol: ELOCprovided by HGNC
Official Full Name: elongin Cprovided by HGNC
Primary source: HGNC:HGNC:11617
See related: Ensembl:ENSG00000154582 MIM:600788; AllianceGenome:HGNC:11617
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
Also known as: SIII; TCEB1
Summary: This gene encodes the protein elongin C, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
Expression: Ubiquitous expression in testis (RPKM 15.6), brain (RPKM 14.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q21.11

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (73945119..73972287, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (74374361..74401537, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (74857354..74884522, complement)

Chromosome 8 - NC_000008.11 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?

[Clinicopathological and molecular genetic characteristics of ELOC mutated renal cell carcinoma].
Title: [Clinicopathological and molecular genetic characteristics of ELOC mutated renal cell carcinoma].
Putative Drivers of Aggressiveness in TCEB1-mutant Renal Cell Carcinoma: An Emerging Entity with Variable Clinical Course.
Title: Putative Drivers of Aggressiveness in TCEB1-mutant Renal Cell Carcinoma: An Emerging Entity with Variable Clinical Course.
NF-kappaB-activated SPRY4-IT1 promotes cancer cell metastasis by downregulating TCEB1 mRNA via Staufen1-mediated mRNA decay.
Title: NF-κB-activated SPRY4-IT1 promotes cancer cell metastasis by downregulating TCEB1 mRNA via Staufen1-mediated mRNA decay.
Novel genetic characterisation and phenotype correlation in von Hippel-Lindau (VHL) disease based on the Elongin C binding site: a large retrospective study.
Title: Novel genetic characterisation and phenotype correlation in von Hippel-Lindau (VHL) disease based on the Elongin C binding site: a large retrospective study.
Elongin C Contributes to RNA Polymerase II Degradation by the Interferon Antagonist NSs of La Crosse Orthobunyavirus.
Title: Elongin C Contributes to RNA Polymerase II Degradation by the Interferon Antagonist NSs of La Crosse Orthobunyavirus.
Renal cell carcinomas with leiomyomatous stroma harbor recurrent mutations of TSC1/TSC2, MTOR, and/or ELOC.
Title: "Renal Cell Carcinoma With Leiomyomatous Stroma" Harbor Somatic Mutations of TSC1, TSC2, MTOR, and/or ELOC (TCEB1): Clinicopathologic and Molecular Characterization of 18 Sporadic Tumors Supports a Distinct Entity.
CRL4(AMBRA)(1) modulates interleukin-6/STAT3 signaling and HIV-1 infectivity that are regulated by CRL5(SOCS)(3) and CRL5(VIF), respectively. Thus, by discovering a substrate of CRL4(AMBRA)(1), ELOC, the shared adapter of CRL5 ubiquitin ligases, we uncovered a novel CRL cross-regulation pathway.
Title: CRL4(AMBRA1) targets Elongin C for ubiquitination and degradation to modulate CRL5 signaling.
crystals of SOCS2 in complex with its adaptor proteins, Elongin C and Elongin B, underwent a change in crystallographic parameters when treated with dimethyl sulfoxide during soaking experiments.
Title: Serendipitous SAD Solution for DMSO-Soaked SOCS2-ElonginC-ElonginB Crystals Using Covalently Incorporated Dimethylarsenic: Insights into Substrate Receptor Conformational Flexibility in Cullin RING Ligases.
TCEB1-mutated renal cell carcinoma is a distinct entity with recurrent hotspot mutations, specific copy number alterations, pathway activation, and characteristic morphological features.
Title: TCEB1-mutated renal cell carcinoma: a distinct genomic and morphological subtype.
The crystal structure of VHL bound to a Cul2 N-terminal domain, Elongin B, and Elongin C.
Title: Insights into Cullin-RING E3 ubiquitin ligase recruitment: structure of the VHL-EloBC-Cul2 complex.

Submit: New GeneRIF Correction See all GeneRIFs (26)

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

EBI GWAS Catalog

Description
Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

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
Vif	vif	HIV-1 complexes with TCEB1 (ELOC)	PubMed
	vif	HIV-1 Vif interacts with TCEB1 (Elongin C) as demonstrated by co-immunoprecipitation assay	PubMed
	vif	ASK1 inhibits the interaction of HIV-1 Vif with ELOB/C in a dose-dependent manner, whereas no significant change is observed in the binding of Vif with CUL5 or CBFbeta	PubMed
	vif	ASK1 markedly inhibits HIV-1 Vif-induced ubiquitination of APOBEC3G by a reduction in the Vif-ELOC interaction	PubMed
	vif	HIV-1 Vif, CBF-beta, CUL5, and ELOB/C form a complex that is required for Vif-mediated downregulation of A3G and A3F. CBF-beta regulates HIV-1 infectivity only in the presence of A3G	PubMed
	vif	An overall crystal structure indicates that the Vif-CBF-beta-CUL5-ELOB-ELOC complex has a U-shape architecture, including the two straight arms Vif-CBF-beta and CUL5 and the bent arm formation between ELOC and CUL5 and Vif interactions	PubMed
	vif	Mutations in HIV-1 Vif PPLP motif (amino acids 161-164) reduces Vif binding to A3G without affecting its interaction with ElonginC and Cullin5	PubMed
	vif	HIV-1 Vif (amino acids 144-149; SLQXLA motif) interacts with cellular proteins Cul5, elongins B and C, and Rbx1 to form an Skp1-Cullin-F-box (SCF)-like complex that allows Vif to interact with APOBEC3G and induce its ubiquitination and degradation	PubMed
	vif	NMR solution structure indicates that HIV-1 Vif residues L145, A149, and L150 and ELOC residues A99 and L103 are involved in the interaction between Vif and ELOC	PubMed
	vif	Mutagenesis analysis indicates that HIV-1 Vif residues T123, R127, L145, and A149 and ELOC residues A100, L101, and L104 are involved in the interaction between Vif and ELOC	PubMed
	vif	Simultaneous substitution of the three Vif-interacting residues L52, W53, and D55 and the two ELOC-interacting residues P41 and H48 in CUL5 impairs the ability of CUL5 to interact with the Vif-CBF-beta-ELOB-ELOC protein complex	PubMed
	vif	The absence of Vif-CBF-beta reduces the interaction between the CUL5 and the EloC-EloB complex, indicating that the former two proteins have a critical role in promoting assembly of the pentameric complex	PubMed
	vif	Amino acid residues Vif135-158 have the most binding to the Elongin BC complex and undergo a structural change in the presence of Elongin BC	PubMed
	vif	The solubility of HIV-1 Vif is significantly enhanced by co-expression of EloB, EloC, and CBF-beta in vitro	PubMed
	vif	The substitution of Leu64 or Ile66 with serine abolishes the ability of CBF-beta to interact with the Vif-EloB/EloC complex, while the substitution of Thr68 or Tyr69 with alanine has an intermediate effect on the interaction of CBF-beta with the complex	PubMed
	vif	The interaction of HIV-1 Vif with EloB/EloC complex is important for the binding of Vif to CBF-beta in cells. The Vif SOCS box mutant (SLQ to AAA) significantly disrupt its interaction with the EloB/EloC complex	PubMed
	vif	A potent small molecular compound VEC-5 protects APOBEC3G, APOBEC3F, and APOBEC3C from HIV-1 Vif-induced degradation and enhances A3G incorporation into HIV-1 virions by inhibiting the interaction between Vif and elongin C	PubMed
	vif	CUL5/RBX2/ELOB/ELOC/Vif/CBF-beta complex catalyzes polyubiquitin chain formation on A3G in the presence of ubiquitin E2 UBE2R1 (CDC34) or UBCH5b (UBE2D2)	PubMed
	vif	HIV-1 Vif binding to ElonginC is negatively regulated by serine phosphorylation in the BC-box of the Vif SOCS-box motif, and mutating amino acid S144 in Vif prevents phosphorylation at this site, significantly impairing Vif function and viral replication	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80031 (e-PCR)
- UniSTS:91103

RH16001 (e-PCR)
- UniSTS:42473

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in target-directed miRNA degradation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription initiation at RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of Cul2-RING ubiquitin ligase complex	ISS Inferred from Sequence or Structural Similarity more info
part_of Cul5-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of elongin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of elongin complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: elongin-C

Names: RNA polymerase II transcription factor SIII subunit C; SIII p15; elongin 15 kDa subunit; transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C); transcription elongation factor B polypeptide 1; transcription elongation factor B subunit 1

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_001204857.2 → NP_001191786.1 elongin-C isoform a

See identical proteins and their annotated locations for NP_001191786.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1-7 encode the same protein (isoform a).

Source sequence(s)

AC022868, AK057889, AL832244

Consensus CDS

CCDS34910.1

UniProtKB/Swiss-Prot

E5RGD9, Q15369, Q567Q6

Related

ENSP00000428334.1, ENST00000518127.5

Conserved Domains (1) summary

cd18321
Location:18 → 112

BTB_POZ_EloC; BTB (Broad-Complex, Tramtrack and Bric a brac) /POZ (poxvirus and zinc finger) domain found in Elongin-C (EloC) and similar proteins
NM_001204858.2 → NP_001191787.1 elongin-C isoform a

See identical proteins and their annotated locations for NP_001191787.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) includes an alternate exon in the 5' UTR compared to variant 1. Variants 1-7 encode the same protein (isoform a).

Source sequence(s)

AC022868, AK057889, BG767430, DA537957

Consensus CDS

CCDS34910.1

UniProtKB/Swiss-Prot

E5RGD9, Q15369, Q567Q6

Conserved Domains (1) summary

cd18321
Location:18 → 112

BTB_POZ_EloC; BTB (Broad-Complex, Tramtrack and Bric a brac) /POZ (poxvirus and zinc finger) domain found in Elongin-C (EloC) and similar proteins
NM_001204859.2 → NP_001191788.1 elongin-C isoform a

See identical proteins and their annotated locations for NP_001191788.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) includes an alternate exon in the 5' UTR compared to variant 1. Variants 1-7 encode the same protein (isoform a).

Source sequence(s)

AC022868, AK057889, BG767430

Consensus CDS

CCDS34910.1

UniProtKB/Swiss-Prot

E5RGD9, Q15369, Q567Q6

Conserved Domains (1) summary

cd18321
Location:18 → 112

BTB_POZ_EloC; BTB (Broad-Complex, Tramtrack and Bric a brac) /POZ (poxvirus and zinc finger) domain found in Elongin-C (EloC) and similar proteins
NM_001204860.2 → NP_001191789.1 elongin-C isoform a

See identical proteins and their annotated locations for NP_001191789.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-7 encode the same protein (isoform a).

Source sequence(s)

AC022868, AK057889, BG428202, CX166843

Consensus CDS

CCDS34910.1

UniProtKB/Swiss-Prot

E5RGD9, Q15369, Q567Q6

Related

ENSP00000509184.1, ENST00000687224.1

Conserved Domains (1) summary

cd18321
Location:18 → 112

BTB_POZ_EloC; BTB (Broad-Complex, Tramtrack and Bric a brac) /POZ (poxvirus and zinc finger) domain found in Elongin-C (EloC) and similar proteins
NM_001204861.2 → NP_001191790.1 elongin-C isoform a

See identical proteins and their annotated locations for NP_001191790.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1-7 encode the same protein (isoform a).

Source sequence(s)

AC022868, AK057889, BM720777

Consensus CDS

CCDS34910.1

UniProtKB/Swiss-Prot

E5RGD9, Q15369, Q567Q6

Related

ENSP00000428074.1, ENST00000523815.5

Conserved Domains (1) summary

cd18321
Location:18 → 112

BTB_POZ_EloC; BTB (Broad-Complex, Tramtrack and Bric a brac) /POZ (poxvirus and zinc finger) domain found in Elongin-C (EloC) and similar proteins
NM_001204862.2 → NP_001191791.1 elongin-C isoform a

See identical proteins and their annotated locations for NP_001191791.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1-7 encode the same protein (isoform a).

Source sequence(s)

AC022868, AK057889, BM720777, CX166168

Consensus CDS

CCDS34910.1

UniProtKB/Swiss-Prot

E5RGD9, Q15369, Q567Q6

Related

ENSP00000478121.1, ENST00000622804.2

Conserved Domains (1) summary

cd18321
Location:18 → 112

BTB_POZ_EloC; BTB (Broad-Complex, Tramtrack and Bric a brac) /POZ (poxvirus and zinc finger) domain found in Elongin-C (EloC) and similar proteins
NM_001204863.2 → NP_001191792.1 elongin-C isoform b

See identical proteins and their annotated locations for NP_001191792.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks an internal exon that results in use of a downstream start codon compared to variant 1. The resulting protein (isoform b) has a shorter N-terminus compared to isoform a. Variants 8 and 9 encode the same protein.

Source sequence(s)

AC022868, AK057889, BG703267, BX649138

Consensus CDS

CCDS56539.1

UniProtKB/Swiss-Prot

Q15369

Related

ENSP00000430224.1, ENST00000520210.1

Conserved Domains (1) summary

cd18321
Location:2 → 96

BTB_POZ_EloC; BTB (Broad-Complex, Tramtrack and Bric a brac) /POZ (poxvirus and zinc finger) domain found in Elongin-C (EloC) and similar proteins
NM_001204864.2 → NP_001191793.1 elongin-C isoform b

See identical proteins and their annotated locations for NP_001191793.1

Status: REVIEWED

Description

Transcript Variant: This variant (9) lacks an internal segment in the 5' region that results in use of downstream start codon compared to variant 1. The resulting protein (isoform b) has a shorter N-terminus compared to isoform a. Variants 8 and 9 encode the same protein.

Source sequence(s)

AC022868, AK057889, BG428202, CF129635

Consensus CDS

CCDS56539.1

UniProtKB/Swiss-Prot

Q15369

Related

ENSP00000509989.1, ENST00000688584.1

Conserved Domains (1) summary

cd18321
Location:2 → 96

BTB_POZ_EloC; BTB (Broad-Complex, Tramtrack and Bric a brac) /POZ (poxvirus and zinc finger) domain found in Elongin-C (EloC) and similar proteins
NM_005648.4 → NP_005639.1 elongin-C isoform a

See identical proteins and their annotated locations for NP_005639.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript. Variants 1-7 encode the same protein (isoform a).

Source sequence(s)

AC022868, AK057889, BM821650

Consensus CDS

CCDS34910.1

UniProtKB/Swiss-Prot

E5RGD9, Q15369, Q567Q6

Related

ENSP00000428171.1, ENST00000520242.6

Conserved Domains (1) summary

cd18321
Location:18 → 112

BTB_POZ_EloC; BTB (Broad-Complex, Tramtrack and Bric a brac) /POZ (poxvirus and zinc finger) domain found in Elongin-C (EloC) and similar proteins