CEP41 centrosomal protein 41 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CEP41provided by HGNC
Official Full Name: centrosomal protein 41provided by HGNC
Primary source: HGNC:HGNC:12370
See related: Ensembl:ENSG00000106477 MIM:610523; AllianceGenome:HGNC:12370
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: JBTS15; TSGA14
Summary: This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Expression: Broad expression in testis (RPKM 5.8), salivary gland (RPKM 3.3) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q32.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (130393771..130441741, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (131707487..131755472, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (130033612..130080857, complement)

Chromosome 7 - NC_000007.14 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?

CEP41-mediated ciliary tubulin glutamylation drives angiogenesis through AURKA-dependent deciliation.
Title: CEP41-mediated ciliary tubulin glutamylation drives angiogenesis through AURKA-dependent deciliation.
Missense variants in one gene, CEP41, associated significantly with Autism Spectrum Disorder (ASD). Homozygous gene-disrupting variants in CEP41 were initially found to be responsible for recessive Joubert syndrome.
Title: Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.
In cortices, the MEST promoter was hemimethylated, as expected for a differentially methylated imprinting control region, whereas the COPG2 and TSGA14 promoters were completely demethylated, typical for transcriptionally active non-imprinted genes.
Title: Methylation and expression analyses of the 7q autism susceptibility locus genes MEST , COPG2, and TSGA14 in human and anthropoid primate cortices.
The data identified CEP41 mutations as a cause of Joubert syndrome and implicated tubulin post-translational modification in the pathogenesis of human ciliary dysfunction.
Title: CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Three rare potentially pathogenic variants were identified in the TSGA14 gene, which encodes a centrosomal protein.
Title: Mutations in the TSGA14 gene in families with autism spectrum disorders.

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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

Associated conditions

Description	Tests
Familial aplasia of the vermis MedGen: C0431399 GeneReviews: Joubert Syndrome	Compare labs
Joubert syndrome 15 MedGen: C3280897 OMIM: 614464 GeneReviews: Joubert Syndrome	Compare labs

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

D7S2396 (e-PCR)
- UniSTS:77851

D7S2948 (e-PCR)
- UniSTS:43302

D7S1958 (e-PCR)
- UniSTS:7728

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

GDB:314949 (e-PCR)
- UniSTS:156503

L18426 (e-PCR)
- UniSTS:34648

RH92008 (e-PCR)
- UniSTS:84067

TSGA14__5148 (e-PCR)
- UniSTS:466534

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

D11S3114 (e-PCR)
- UniSTS:152207

D7S1861 (e-PCR)
- UniSTS:29078

WI-14634 (e-PCR)
- UniSTS:69783

SHGC-30423 (e-PCR)
- UniSTS:61854

RH93033 (e-PCR)
- UniSTS:84137

L17809 (e-PCR)
- UniSTS:39087

D7S2107E (e-PCR)
- UniSTS:12990

GDB:3755043 (e-PCR)
- UniSTS:61153

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 protein polyglutamylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: centrosomal protein of 41 kDa

Names: centrosomal protein 41 kDa; centrosomal protein 41kDa; testis specific protein A14; testis specific, 14; testis-specific gene A14 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.

Genomic

NG_032164.2 RefSeqGene

Range

5195..52440

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001257158.2 → NP_001244087.1 centrosomal protein of 41 kDa isoform 2

See identical proteins and their annotated locations for NP_001244087.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1, which results in a shorter isoform (2), compared to isoform 1.

Source sequence(s)

AC007938, BC018789, CB155730, DB069500

Consensus CDS

CCDS59079.1

UniProtKB/TrEMBL

A0A7I2PK71

Related

ENSP00000501735.1, ENST00000675596.1

Conserved Domains (1) summary

cd00158
Location:170 → 253

RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...
NM_001257159.2 → NP_001244088.1 centrosomal protein of 41 kDa isoform 3

See identical proteins and their annotated locations for NP_001244088.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1, which results in a shorter isoform (3), compared to isoform 1.

Source sequence(s)

AC007938, AK298618, BC018789, CB155730, DB069500

Consensus CDS

CCDS59078.1

UniProtKB/TrEMBL

A0A7I2PK71

Related

ENSP00000502478.1, ENST00000675962.1

Conserved Domains (1) summary

cd00158
Location:154 → 237

RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...
NM_001257160.2 → NP_001244089.1 centrosomal protein of 41 kDa isoform 4

See identical proteins and their annotated locations for NP_001244089.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks multiple exons in the 3' coding region and has a novel 3' terminus, compared to variant 1, which results in an isoform (4; also known as short (S) type) which has a severely truncated and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AF429309

Consensus CDS

CCDS59080.1

UniProtKB/Swiss-Prot

Q9BYV8

Related

ENSP00000417815.1, ENST00000489512.5
NM_018718.3 → NP_061188.1 centrosomal protein of 41 kDa isoform 1

See identical proteins and their annotated locations for NP_061188.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1; also known as long (L) type).

Source sequence(s)

AC007938, AF429308

Consensus CDS

CCDS5821.1

UniProtKB/Swiss-Prot

A4D1M0, B4DQ35, F5H0V6, Q7Z496, Q86TM1, Q8NFU8, Q9BYV8, Q9H6A3, Q9NPV3

UniProtKB/TrEMBL

A0A6Q8PFB1

Related

ENSP00000223208.4, ENST00000223208.10

Conserved Domains (1) summary

cd00158
Location:170 → 255

RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...

RNA

NR_046443.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate splice site in the 3' coding region, compared to variant 1, which results in a frameshift and early stop codon. This transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC007938, AK311382, CB155730, DB069500

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

130393771..130441741 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047421055.1 → XP_047277011.1 centrosomal protein of 41 kDa isoform X4
XM_047421053.1 → XP_047277009.1 centrosomal protein of 41 kDa isoform X1

UniProtKB/TrEMBL

A0A6Q8PF12

Related

ENSP00000501597.1, ENST00000675138.1
XM_011516709.4 → XP_011515011.1 centrosomal protein of 41 kDa isoform X3

See identical proteins and their annotated locations for XP_011515011.1

UniProtKB/TrEMBL

A0A7I2SYM4

Conserved Domains (1) summary

cd00158
Location:135 → 220

RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...
XM_047421054.1 → XP_047277010.1 centrosomal protein of 41 kDa isoform X3
XM_024447004.2 → XP_024302772.1 centrosomal protein of 41 kDa isoform X2

UniProtKB/TrEMBL

A0A6Q8PH03, A0A7I2SYM4

Related

ENSP00000502477.1, ENST00000675803.1

Conserved Domains (1) summary

cd00158
Location:157 → 242

RHOD; Rhodanese Homology Domain (RHOD); an alpha beta fold domain found duplicated in the rhodanese protein. The cysteine containing enzymatically active version of the domain is also found in the Cdc25 class of protein phosphatases and a variety of proteins ...

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

131707487..131755472 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054359378.1 → XP_054215353.1 centrosomal protein of 41 kDa isoform X4
XM_054359374.1 → XP_054215349.1 centrosomal protein of 41 kDa isoform X1

UniProtKB/TrEMBL

A0A6Q8PF12
XM_054359377.1 → XP_054215352.1 centrosomal protein of 41 kDa isoform X3
XM_054359376.1 → XP_054215351.1 centrosomal protein of 41 kDa isoform X3
XM_054359375.1 → XP_054215350.1 centrosomal protein of 41 kDa isoform X2

UniProtKB/TrEMBL

A0A6Q8PH03