Gene

cep104

ID

ZDB-GENE-060503-195

Name

centrosomal protein 104

Symbol

cep104 Nomenclature History

Previous Names

si:ch211-147a11.5

Type

protein_coding_gene

Location

Chr: 8 Mapping Details/Browsers

Description

Acts upstream of or within cilium assembly; cranial nerve development; and heart looping. Predicted to be active in cilium. Human ortholog(s) of this gene implicated in Joubert syndrome 25 and autosomal recessive intellectual developmental disorder 77. Orthologous to human CEP104 (centrosomal protein 104).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Di Stazio et al., 2020

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 2 figures from Frikstad et al., 2019
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With cep104 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive intellectual developmental disorder 77	Alliance	Intellectual developmental disorder, autosomal recessive 77	619988
Joubert syndrome 25	Alliance	Joubert syndrome 25	616781

Associated With cep104 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR034085	TOG domain
Domain	IPR048738	Centrosomal protein CEP104, Zn finger domain
Domain	IPR048739	Centrosomal protein CEP104, N-terminal domain
Family	IPR052607	Centrosomal protein 104 kDa-like
Homologous_superfamily	IPR008979	Galactose-binding-like domain superfamily
Homologous_superfamily	IPR011989	Armadillo-like helical
Homologous_superfamily	IPR016024	Armadillo-type fold

Domain Details Per Protein

Protein	Length	Armadillo-like helical	Armadillo-type fold	Centrosomal protein 104 kDa-like	Centrosomal protein CEP104, N-terminal domain	Centrosomal protein CEP104, Zn finger domain	Galactose-binding-like domain superfamily	TOG domain
UniProtKB:A0A8M1RIT0 InterPro	972
UniProtKB:A0A8M2BEF8 InterPro	973

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	cep104-201 (1) Ensembl	Ensembl	2,883 nt	Select Tool ZFIN BLAST
mRNA	cep104-202 (1) Ensembl	Ensembl	2,970 nt	Select Tool ZFIN BLAST
ncRNA	cep104-002 (1) Ensembl	Ensembl	720 nt	Select Tool ZFIN BLAST
ncRNA	cep104-003 (1) Ensembl	Ensembl	779 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations