cep55l centrosomal protein 55 like [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: cep55lprovided by ZNC
Official Full Name: centrosomal protein 55 likeprovided by ZNC
Primary source: ZFIN:ZDB-GENE-050522-222
See related: Ensembl:ENSDARG00000102349 AllianceGenome:ZFIN:ZDB-GENE-050522-222
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:112184
Summary: Acts upstream of or within cerebellum development; cranial skeletal system development; and regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Predicted to be located in several cellular components, including Flemming body; cleavage furrow; and microtubule organizing center. Predicted to be active in midbody. Is expressed in several structures, including caudal fin; integument; nervous system; pleuroperitoneal region; and proliferative region. Used to study hydranencephaly and multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly. Human ortholog(s) of this gene implicated in multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly. Orthologous to human CEP55 (centrosomal protein 55). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 12

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	12	NC_007123.7 (5102699..5113388)
105	previous assembly	GRCz10 (GCF_000002035.5)	12	NC_007123.6 (5067721..5078431)

Chromosome 12 - NC_007123.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CEP55 loss of function mutations likely underlie MARCH, a novel multiple congenital anomaly syndrome.
Title: A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cerebellum development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cranial skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic cytokinesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mitotic cytokinesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Flemming body	IEA Inferred from Electronic Annotation more info
located_in centriole	IEA Inferred from Electronic Annotation more info
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in cleavage furrow	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in midbody	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: centrosomal protein of 55 kDa

Names: cep55

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_001020762.1 → NP_001018598.1 centrosomal protein of 55 kDa

See identical proteins and their annotated locations for NP_001018598.1

Status: PROVISIONAL

Source sequence(s)

BC095686

UniProtKB/Swiss-Prot

Q502I3

Related

ENSDARP00000136406.1, ENSDART00000166600.2

Conserved Domains (1) summary

cl25732
Location:76 → 426

SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

NC_007123.7 Reference GRCz11 Primary Assembly

Range

5102699..5113388

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005156020.5 → XP_005156077.1 centrosomal protein of 55 kDa isoform X1

UniProtKB/TrEMBL

A0A8M2B241

Conserved Domains (1) summary

pfam12180
Location:164 → 197

EABR; TSG101 and ALIX binding domain of CEP55