Tmem67 transmembrane protein 67 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Tmem67provided by RGD
Official Full Name: transmembrane protein 67provided by RGD
Primary source: RGD:1586167
See related: EnsemblRapid:ENSRNOG00000016187 AllianceGenome:RGD:1586167
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Wpk; Mks3
Summary: Enables misfolded protein binding activity. Involved in several processes, including photoreceptor cell outer segment organization; positive regulation of ERAD pathway; and regulation of organelle organization. Located in axoneme; cytoplasmic vesicle membrane; and endoplasmic reticulum membrane. Used to study Meckel syndrome 3; autosomal recessive polycystic kidney disease; communicating hydrocephalus; hydrocephalus; and proteinuria. 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, Nov 2024]
Expression: Biased expression in Brain (RPKM 55.2), Kidney (RPKM 52.5) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 5q13

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	5	NC_086023.1 (30333793..30386702, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	5	NC_051340.1 (25536458..25589378, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	5	NC_005104.4 (25666138..25721056, complement)

Chromosome 5 - NC_086023.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data conclude that MKS3 is not important for formation of connecting cilium and rudimentary outer segments, but is critical for the maturation of outer segment processes.
Title: Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome.
MKS1 and MKS3 functions are required for ciliary structure and function.
Title: Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.
We have refined MKS3 mapping to a 12.67-Mb interval (8q21.13-q22.1) that is syntenic to the Wpk locus in rat, which is a model with polycystic kidney disease, agenesis of the corpus callosum and hydrocephalus.
Title: The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

Submit: New GeneRIF Correction

General gene information

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Markers

BI275220 (e-PCR)
- UniSTS:249600

RH137862 (e-PCR)
- UniSTS:219949

RH136782 (e-PCR)
- UniSTS:218871

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables filamin binding	IEA Inferred from Electronic Annotation more info
enables filamin binding	ISO Inferred from Sequence Orthology more info
enables misfolded protein binding	IDA Inferred from Direct Assay more info	PubMed
enables unfolded protein binding	IEA Inferred from Electronic Annotation more info
enables unfolded protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in ERAD pathway	IEA Inferred from Electronic Annotation more info
involved_in ERAD pathway	ISO Inferred from Sequence Orthology more info
involved_in branching morphogenesis of an epithelial tube	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within determination of left/right symmetry	ISO Inferred from Sequence Orthology more info
involved_in epithelial tube branching involved in lung morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in head development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within kidney development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of centrosome duplication	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of centrosome duplication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of centrosome duplication	ISO Inferred from Sequence Orthology more info
involved_in non-canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in non-canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in photoreceptor cell outer segment organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of MKS complex	IEA Inferred from Electronic Annotation more info
part_of MKS complex	ISO Inferred from Sequence Orthology more info
part_of MKS complex	ISS Inferred from Sequence or Structural Similarity more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in ciliary membrane	IEA Inferred from Electronic Annotation more info
located_in ciliary membrane	ISO Inferred from Sequence Orthology more info
is_active_in ciliary transition zone	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary transition zone	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: meckelin

Names: Meckel syndrome type 3 protein homolog; Wistar polycystic kidney

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_001107916.2 → NP_001101386.3 meckelin precursor

Status: VALIDATED

Source sequence(s)

JAXUCZ010000005

UniProtKB/Swiss-Prot

P0C152

UniProtKB/TrEMBL

F1M947

Related

ENSRNOP00000021839.6, ENSRNOT00000021839.9

Conserved Domains (1) summary

pfam09773
Location:174 → 997

Meckelin; Meckelin (Transmembrane protein 67)

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086023.1 Reference GRCr8

Range

30333793..30386702 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039109808.2 → XP_038965736.1 meckelin isoform X1

UniProtKB/TrEMBL

A6II79

Conserved Domains (1) summary

pfam09773
Location:1 → 774

Meckelin; Meckelin (Transmembrane protein 67)
XM_039109811.2 → XP_038965739.1 meckelin isoform X3

Conserved Domains (1) summary

pfam09773
Location:174 → 560

Meckelin; Meckelin (Transmembrane protein 67)
XM_039109810.2 → XP_038965738.1 meckelin isoform X2

Conserved Domains (1) summary

pfam09773
Location:174 → 560

Meckelin; Meckelin (Transmembrane protein 67)