CEP83 centrosomal protein 83 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CEP83provided by HGNC
Official Full Name: centrosomal protein 83provided by HGNC
Primary source: HGNC:HGNC:17966
See related: Ensembl:ENSG00000173588 MIM:615847; AllianceGenome:HGNC:17966
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: CCDC41; NPHP18; NY-REN-58
Summary: The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]
Expression: Ubiquitous expression in testis (RPKM 3.2), appendix (RPKM 2.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q22

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (94265662..94460454, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (94249742..94441264, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (94700169..94854230, complement)

Chromosome 12 - NC_000012.12 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?

The centrosomal protein 83 (CEP83) regulates human pluripotent stem cell differentiation toward the kidney lineage.
Title: The centrosomal protein 83 (CEP83) regulates human pluripotent stem cell differentiation toward the kidney lineage.
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency.
Title: Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency.
The results reveal a molecular mechanism of kinase regulation in ciliogenesis and identify CEP83 as a key substrate of TTBK2 during cilia initiation.
Title: Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation.
We have identified mutations in CEP83, another distal appendages component encoding gene, as a cause of infantile nephronophthisis associated with central nervous system abnormalities in half of the individuals.
Title: Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
CCDC41 is required for the docking of ciliary vesicles
Title: CCDC41 is required for ciliary vesicle docking to the mother centriole.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Nephronophthisis 18 MedGen: C3890591 OMIM: 615862 GeneReviews: Nephronophthisis-Related Ciliopathies	Compare labs

EBI GWAS Catalog

Description
TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48920 (e-PCR)
- UniSTS:33057

D12S327 (e-PCR)
- UniSTS:83244

PMC156606P1 (e-PCR)
- UniSTS:271408

G64527 (e-PCR)
- UniSTS:163672

G64442 (e-PCR)
- UniSTS:163678

RH46348 (e-PCR)
- UniSTS:29314

SHGC-54537 (e-PCR)
- UniSTS:7834

D12S1881 (e-PCR)
- UniSTS:6599

RH102893 (e-PCR)
- UniSTS:97227

D12S327 (e-PCR)
- UniSTS:1765

SHGC-143711 (e-PCR)
- UniSTS:172021

B311WC5 (e-PCR)
- UniSTS:57589

RH48574 (e-PCR)
- UniSTS:4598

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
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of centrosome localization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein localization to centrosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle docking	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in centriole	IBA Inferred from Biological aspect of Ancestor more info
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
part_of ciliary transition fiber	IBA Inferred from Biological aspect of Ancestor more info
part_of ciliary transition fiber	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: centrosomal protein of 83 kDa

Names: NY-REN-58 antigen; coiled-coil domain-containing protein 41; renal carcinoma antigen NY-REN-58

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.

Genomic

NG_051825.2 RefSeqGene

Range

5587..157756

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001042399.2 → NP_001035858.1 centrosomal protein of 83 kDa isoform a

See identical proteins and their annotated locations for NP_001035858.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).

Source sequence(s)

AC073655, AK056316, BC032943, BC053614, BU608784

Consensus CDS

CCDS41820.1

UniProtKB/Swiss-Prot

A4FVB1, Q08AP1, Q9Y592

Related

ENSP00000344655.5, ENST00000339839.9

Conserved Domains (1) summary

cl25732
Location:229 → 600

SMC_N; RecF/RecN/SMC N terminal domain
NM_001346457.2 → NP_001333386.1 centrosomal protein of 83 kDa isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' and 3' UTRs compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).

Source sequence(s)

AC068779, AC073655

Consensus CDS

CCDS41820.1

UniProtKB/Swiss-Prot

A4FVB1, Q08AP1, Q9Y592

Conserved Domains (1) summary

cl25732
Location:229 → 600

SMC_N; RecF/RecN/SMC N terminal domain
NM_001346458.2 → NP_001333387.1 centrosomal protein of 83 kDa isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (4), as well as variant 5, encodes isoform b.

Source sequence(s)

AC068779, AC073655
NM_001346459.2 → NP_001333388.1 centrosomal protein of 83 kDa isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (5), as well as variant 4, encodes isoform b.

Source sequence(s)

AC068779, AC073655
NM_001346460.2 → NP_001333389.1 centrosomal protein of 83 kDa isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (6), as well as variant 7, encodes isoform c.

Source sequence(s)

AC068779, AC073655

Consensus CDS

CCDS86323.1

UniProtKB/TrEMBL

F8VYN8

Related

ENSP00000448913.1, ENST00000547575.5
NM_001346461.2 → NP_001333390.1 centrosomal protein of 83 kDa isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (7), as well as variant 6, encodes isoform c.

Source sequence(s)

AC068779, AC073655

Consensus CDS

CCDS86323.1

UniProtKB/TrEMBL

F8VYN8
NM_001346462.2 → NP_001333391.1 centrosomal protein of 83 kDa isoform d

Status: REVIEWED

Source sequence(s)

AC068779, AC073655

UniProtKB/TrEMBL

Q3B787
NM_001368037.1 → NP_001354966.1 centrosomal protein of 83 kDa isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (10), as well as variants 1-3 and 11, encodes isoform a.

Source sequence(s)

AC068779, AC073655

Consensus CDS

CCDS41820.1

UniProtKB/Swiss-Prot

A4FVB1, Q08AP1, Q9Y592
NM_001368038.1 → NP_001354967.1 centrosomal protein of 83 kDa isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (11), as well as variants 1-3 and 10, encodes isoform a.

Source sequence(s)

AC068779, AC073655

Consensus CDS

CCDS41820.1

UniProtKB/Swiss-Prot

A4FVB1, Q08AP1, Q9Y592
NM_001368039.1 → NP_001354968.1 centrosomal protein of 83 kDa isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (12), as well as variants 4, 5, and 13, encodes isoform b.

Source sequence(s)

AC068779, AC073655
NM_001368040.1 → NP_001354969.1 centrosomal protein of 83 kDa isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (13), as well as variants 4, 5, and 12, encodes isoform b.

Source sequence(s)

AC068779, AC073655
NM_001368041.1 → NP_001354970.1 centrosomal protein of 83 kDa isoform e

Status: REVIEWED

Source sequence(s)

AC068779, AC073655
NM_001368042.1 → NP_001354971.1 centrosomal protein of 83 kDa isoform f

Status: REVIEWED

Source sequence(s)

AC068779, AC073655
NM_016122.3 → NP_057206.2 centrosomal protein of 83 kDa isoform a

See identical proteins and their annotated locations for NP_057206.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1, 2, and 3 all encode the same isoform (a).

Source sequence(s)

AC073655, AF155115, BC053614, BC107746, DA440413

Consensus CDS

CCDS41820.1

UniProtKB/Swiss-Prot

A4FVB1, Q08AP1, Q9Y592

Related

ENSP00000380911.4, ENST00000397809.10

Conserved Domains (1) summary

cl25732
Location:229 → 600

SMC_N; RecF/RecN/SMC N terminal domain

RNA

NR_144441.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068779, AC073655
NR_160431.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068779, AC073655
NR_160432.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068779, AC073655

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

94265662..94460454 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047428923.1 → XP_047284879.1 centrosomal protein of 83 kDa isoform X1

UniProtKB/Swiss-Prot

A4FVB1, Q08AP1, Q9Y592
XM_047428922.1 → XP_047284878.1 centrosomal protein of 83 kDa isoform X1

UniProtKB/Swiss-Prot

A4FVB1, Q08AP1, Q9Y592
XM_017019386.3 → XP_016874875.1 centrosomal protein of 83 kDa isoform X1

UniProtKB/Swiss-Prot

A4FVB1, Q08AP1, Q9Y592

Conserved Domains (1) summary

cl25732
Location:229 → 600

SMC_N; RecF/RecN/SMC N terminal domain
XM_047428926.1 → XP_047284882.1 centrosomal protein of 83 kDa isoform X3
XM_017019385.3 → XP_016874874.1 centrosomal protein of 83 kDa isoform X1

UniProtKB/Swiss-Prot

A4FVB1, Q08AP1, Q9Y592

Conserved Domains (1) summary

cl25732
Location:229 → 600

SMC_N; RecF/RecN/SMC N terminal domain
XM_017019389.3 → XP_016874878.1 centrosomal protein of 83 kDa isoform X2

Conserved Domains (1) summary

COG1579
Location:7 → 169

COG1579; Predicted nucleic acid-binding protein, contains Zn-ribbon domain [General function prediction only]
XM_024449007.2 → XP_024304775.1 centrosomal protein of 83 kDa isoform X6

Conserved Domains (1) summary

cl25732
Location:5 → 342

SMC_N; RecF/RecN/SMC N terminal domain
XM_024449005.2 → XP_024304773.1 centrosomal protein of 83 kDa isoform X3

Conserved Domains (2) summary

cl25732
Location:91 → 462

SMC_N; RecF/RecN/SMC N terminal domain

cl27403
Location:5 → 160

zf-RING_7; C4-type zinc ribbon domain
XM_047428925.1 → XP_047284881.1 centrosomal protein of 83 kDa isoform X3
XM_011538424.3 → XP_011536726.1 centrosomal protein of 83 kDa isoform X1

See identical proteins and their annotated locations for XP_011536726.1

UniProtKB/Swiss-Prot

A4FVB1, Q08AP1, Q9Y592

Conserved Domains (1) summary

cl25732
Location:229 → 600

SMC_N; RecF/RecN/SMC N terminal domain
XM_047428927.1 → XP_047284883.1 centrosomal protein of 83 kDa isoform X3
XM_047428928.1 → XP_047284884.1 centrosomal protein of 83 kDa isoform X4

Related

ENSP00000447783.1, ENST00000547232.5
XM_047428929.1 → XP_047284885.1 centrosomal protein of 83 kDa isoform X5
XM_047428930.1 → XP_047284886.1 centrosomal protein of 83 kDa isoform X5

RNA

XR_007063082.1 RNA Sequence
XR_007063081.1 RNA Sequence
XR_007063083.1 RNA Sequence
XR_007063080.1 RNA Sequence
XR_007063084.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

94249742..94441264 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054372166.1 → XP_054228141.1 centrosomal protein of 83 kDa isoform X1

UniProtKB/Swiss-Prot

A4FVB1, Q08AP1, Q9Y592
XM_054372165.1 → XP_054228140.1 centrosomal protein of 83 kDa isoform X1

UniProtKB/Swiss-Prot

A4FVB1, Q08AP1, Q9Y592
XM_054372167.1 → XP_054228142.1 centrosomal protein of 83 kDa isoform X1

UniProtKB/Swiss-Prot

A4FVB1, Q08AP1, Q9Y592
XM_054372168.1 → XP_054228143.1 centrosomal protein of 83 kDa isoform X2
XM_054372173.1 → XP_054228148.1 centrosomal protein of 83 kDa isoform X6
XM_054372170.1 → XP_054228145.1 centrosomal protein of 83 kDa isoform X3
XM_054372169.1 → XP_054228144.1 centrosomal protein of 83 kDa isoform X3
XM_054372164.1 → XP_054228139.1 centrosomal protein of 83 kDa isoform X1

UniProtKB/Swiss-Prot

A4FVB1, Q08AP1, Q9Y592
XM_054372171.1 → XP_054228146.1 centrosomal protein of 83 kDa isoform X3
XM_054372172.1 → XP_054228147.1 centrosomal protein of 83 kDa isoform X4