tmem67 transmembrane protein 67 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: tmem67provided by ZNC
Official Full Name: transmembrane protein 67provided by ZNC
Primary source: ZFIN:ZDB-GENE-080716-1
See related: Ensembl:ENSDARG00000076752 AllianceGenome:ZFIN:ZDB-GENE-080716-1
Gene type: protein coding
RefSeq status: MODEL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Summary: Acts upstream of or within cilium assembly; cilium movement; and convergent extension. Predicted to be located in membrane. Predicted to be part of MKS complex. Predicted to be active in ciliary transition zone. Used to study ciliopathy and meningocele. Human ortholog(s) of this gene implicated in several diseases, including Bardet-Biedl syndrome (multiple); COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; and nephronophthisis (multiple). Orthologous to human TMEM67 (transmembrane protein 67). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	16	NC_007127.7 (27564291..27581488)
105	previous assembly	GRCz10 (GCF_000002035.5)	16	NC_007127.6 (27629606..27646868)

Chromosome 16 - NC_007127.7 Genomic Context describing neighboring genes

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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

The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.
Title: The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.

Submit: New GeneRIF Correction

Process	Evidence Code	Pubs
acts_upstream_of_or_within cilium assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cilium assembly	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium movement	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within convergent extension involved in axis elongation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within convergent extension involved in gastrulation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within gastrulation	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
part_of MKS complex	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

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

XM_695882.9 → XP_700974.4 meckelin isoform X1

UniProtKB/TrEMBL

A0A8M3AJ63, A0A8N7T8D1, E9QB24

Related

ENSDARP00000116688.1, ENSDART00000140460.3

Conserved Domains (3) summary

cd00185
Location:55 → 116

TNFRSF; CRD2 [structural motif]

pfam09773
Location:157 → 982

Meckelin; Meckelin (Transmembrane protein 67)

cl22855
Location:26 → 143

TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
XM_068214145.1 → XP_068070246.1 meckelin isoform X2

UniProtKB/TrEMBL

A0A8M3AJ63