CEP20 centrosomal protein 20 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CEP20provided by HGNC
Official Full Name: centrosomal protein 20provided by HGNC
Primary source: HGNC:HGNC:26435
See related: Ensembl:ENSG00000133393 MIM:617149; AllianceGenome:HGNC:26435
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: FOPNL; FOR20; C16orf63; PHSECRG2
Summary: Enables identical protein binding activity. Involved in cilium assembly. Located in centriolar satellite and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thyroid (RPKM 17.8), esophagus (RPKM 13.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.11

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (15865719..15888603, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (15870661..15893544, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (15959576..15982460, complement)

Chromosome 16 - NC_000016.10 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?

Results together with the limitations of the original studies indicate that the reported associations between the MTHFD1L and FOPNL loci and MM survival are false positives due to a winner's curse effect.
Title: Sequence variation at the MTHFD1L-AKAP12 and FOPNL loci does not influence multiple myeloma survival in Sweden.
FOPNL genomic variant is associated with multiple myeloma.
Title: The adverse effect of FOPNL genomic variant is reversed by bortezomib-based treatment protocols in multiple myeloma.
The S100A6 interacts with FOR20 and related centrosomal proteins through a conserved N-terminal domain, suggesting a novel Ca(2+)-dependent regulation of centrosomal function.
Title: Identification and characterization of a centrosomal protein, FOR20 as a novel S100A6 target.
The results suggested that the centrosomal protein FOR20 is a new member of the microtubule-associated protein family and that it regulates the assembly and dynamics of microtubules while interacting with tubulin.
Title: A centrosomal protein FOR20 regulates microtubule assembly dynamics and plays a role in cell migration.
The depletion of FOR20 (FOP-related protein of 20 kDa), a conserved centrosomal protein, inhibits S-phase progression and prevents targeting of Plk1 (polo-like kinase 1) to centrosomes, where FOR20 interacts with Plk1.
Title: Centrosomal protein FOR20 is essential for S-phase progression by recruiting Plk1 to centrosomes.
Microdeletions at 16p13.11 are associated with a predisposition to idiopathic generalized epilepsy.
Title: Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.

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

RH65019 (e-PCR)
- UniSTS:88330

RH65060 (e-PCR)
- UniSTS:89618

D8S2279 (e-PCR)
- UniSTS:473907

RH93586 (e-PCR)
- UniSTS:90426

D1S1425 (e-PCR)
- UniSTS:149621

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule anchoring	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	IEA Inferred from Electronic Annotation more info
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in motile cilium	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: centrosomal protein 20

Names: FGFR1OP N-terminal like; FOP-related protein of 20 kDa; lisH domain-containing protein C16orf63; lisH domain-containing protein FOPNL; pluripotent embryonic stem cell-related protein

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_001304497.2 → NP_001291426.1 centrosomal protein 20 isoform 2

See identical proteins and their annotated locations for NP_001291426.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AK056798, AL832498, HY004717

Consensus CDS

CCDS76830.1

UniProtKB/Swiss-Prot

Q96NB1

Related

ENSP00000460312.1, ENST00000573968.5

Conserved Domains (1) summary

pfam09398
Location:43 → 89

FOP_dimer; FOP N terminal dimerization domain
NM_001304498.2 → NP_001291427.1 centrosomal protein 20 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) has a shorter C-terminus than isoform 1.

Source sequence(s)

AL832498, DB494037

Consensus CDS

CCDS76831.1

UniProtKB/TrEMBL

I3L2N4

Related

ENSP00000459804.1, ENST00000575073.5

Conserved Domains (1) summary

cl29685
Location:43 → 98

LisH_2
NM_001304499.2 → NP_001291428.1 centrosomal protein 20 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (4) is longer than isoform 1.

Source sequence(s)

AL832498, BI460301, HY004717

Consensus CDS

CCDS76833.1

UniProtKB/TrEMBL

I3NI25

Related

ENSP00000461830.1, ENST00000573429.5

Conserved Domains (1) summary

pfam09398
Location:43 → 137

FOP_dimer; FOP N terminal dimerization domain
NM_001304500.2 → NP_001291429.1 centrosomal protein 20 isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (5) is shorter than isoform 1.

Source sequence(s)

AL832498, DB103294, HY004717

Consensus CDS

CCDS76829.1

UniProtKB/TrEMBL

I3L269

Related

ENSP00000459429.1, ENST00000575744.5

Conserved Domains (1) summary

pfam09398
Location:3 → 47

FOP_dimer; FOP N terminal dimerization domain
NM_001304502.2 → NP_001291431.1 centrosomal protein 20 isoform 6

Status: VALIDATED

Description

Transcript Variant: This variant (6) contains an alternate in-frame exon in the 5' coding region and lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.

Source sequence(s)

AL832498, BI460301, BI551732, HY004717

Consensus CDS

CCDS76832.1

UniProtKB/TrEMBL

I3L4V2

Related

ENSP00000461548.1, ENST00000573396.5

Conserved Domains (1) summary

pfam09398
Location:43 → 122

FOP_dimer; FOP N terminal dimerization domain
NM_144600.4 → NP_653201.1 centrosomal protein 20 isoform 1

See identical proteins and their annotated locations for NP_653201.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AK055715, AL832498, HY004717

Consensus CDS

CCDS10567.1

UniProtKB/Swiss-Prot

B3KPU9, Q96NB1

Related

ENSP00000255759.6, ENST00000255759.11

Conserved Domains (1) summary

pfam09398
Location:43 → 113

FOP_dimer; FOP N terminal dimerisation domain

RNA

NR_130755.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (7) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL832498, BI550657
NR_130756.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (8) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL832498, CB991926, DA178808, HY004717
NR_130757.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (9) lacks two alternate internal exons compared to variant 1. This variant is represented as non-coding because there are no ORFs that meet RefSeq quality criteria.

Source sequence(s)

AL832498, BU661163, HY004717