TMEM67 - transmembrane protein 67 Gene
Also Known as MKS3; JBTS6; NPHP11; TNEM67; MECKELIN
Species: Homo sapiens
About TMEM67
This gene has 47 transcripts (splice variants), 210 orthologues and is associated with 14 phenotypes. Broad expression in testis (RPKM 4.7), thyroid (RPKM 3.1) and 23 other tissues.
Summary
The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
TMEM67 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001142301.1 | NP_001135773.1 | meckelin isoform 2 |
| NM_153704.6 | NP_714915.3 | meckelin isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables filamin binding |
IPI
IPI: Inferred from physical interaction
|
22121117 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17185389 | GOA |
| enables unfolded protein binding |
IPI
IPI: Inferred from physical interaction
|
19815549 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in ERAD pathway |
IMP
IMP: Inferred from mutant phenotype
|
19815549 | GOA |
| involved in cilium assembly |
IMP
IMP: Inferred from mutant phenotype
|
19515853 | GOA |
| involved in negative regulation of centrosome duplication |
IMP
IMP: Inferred from mutant phenotype
|
19515853 | GOA |
| involved in non-canonical Wnt signaling pathway |
IMP
IMP: Inferred from mutant phenotype
|
34964473 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in centrosome |
IDA
IDA: Inferred from direct assay
|
17185389 | GOA |
| located in ciliary membrane |
IDA
IDA: Inferred from direct assay
|
17185389 | GOA |
| located in ciliary transition zone |
IDA
IDA: Inferred from direct assay
|
26595381 | GOA |
| located in cytoplasmic vesicle membrane |
IDA
IDA: Inferred from direct assay
|
19815549 | GOA |
| located in endoplasmic reticulum membrane |
IDA
IDA: Inferred from direct assay
|
19815549 | GOA |
TMEM67 Protein Structure
Meckelin: Meckelin (Transmembrane protein 67) (164 - 995)
- 0
- 200
- 400
- 600
- 800
- 995 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
meckelin |
|
TMEM67 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TMEM67 | Q5HYA8 | APP | Homo sapiens | P05067-2 | 32814053 | |
|
Intra
|
TMEM67 | Q5HYA8 | APP | Homo sapiens | P05067-2 | 32814053 | |
|
Intra
|
TMEM67 | Q5HYA8 | APP | Homo sapiens | P05067-2 | 32814053 |
TMEM67 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83312 | Meckelin Antibody (YA3057) | WB, ICC/IF | Human |
| HY-P83312A | Meckelin Antibody (YA3057)(PBS only) | WB, ICC/IF | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Rhyns Syndrome |
|
|
| Coach Syndrome 1 |
|
|
| Meckel Syndrome, Type 3 |
|
|
| Joubert Syndrome 6 |
|
|
| Nephronophthisis 11 |
|
|
| Bardet-Biedl Syndrome 14 |
|
|
| Coloboma Of Iris |
|
|
| Meckel Syndrome, Type 1 |
|
|
| Joubert Syndrome 1 |
|
|
| Senior-Boichis Syndrome |
|
|
| Congenital Nervous System Abnormality |
|
|
| Nervous System Disease |
|
|
| Peritonitis |
|
|
| Cerebellar Malformation |
|
|
| Oligohydramnios |
|
|
| Cystic Kidney Disease |
|
|
| Bardet-Biedl Syndrome |
|
|
| Coloboma Of Macula |
|
|
| Coloboma, Ocular, Autosomal Dominant |
|
|
| Tremor |
|
|
| Pancreatitis |
|
|
| Encephalocele |
|
|
| Joubert Syndrome 2 |
|
|
| Nephronophthisis |
|
|
| Joubert Syndrome 5 |
|
|
| Spastic Ataxia |
|
|
| Joubert Syndrome 26 |
|
|
| Apraxia |
|
|
| Joubert Syndrome 3 |
|
|
| Joubert Syndrome 13 |
|
|
| Polydactyly |
|
|
| Hydrolethalus Syndrome 1 |
|
|
| Nephronophthisis 19 |
|
|
| Hypopituitarism |
|
|
| Orofaciodigital Syndrome Vi |
|
|
| Meningocele |
|
|
| Senior-Loken Syndrome 1 |
|
|
| Meckel Syndrome, Type 4 |
|
|
| Orofaciodigital Syndrome |
|
|
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
|
| Chromosome 2q35 Duplication Syndrome |
|
|
| Cranioectodermal Dysplasia |
|
|
| Retinal Degeneration |
|
|
| Acrocallosal Syndrome |
|
|
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
|
| Asphyxiating Thoracic Dystrophy |
|
|
| Heart Disease |
|
|
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
|
| Retinitis Pigmentosa |
|
|
| Osteogenesis Imperfecta, Type Iii |
|
|
| Sensorineural Hearing Loss |
|
|
| Polycystic Liver Disease |
|
|
| Visceral Heterotaxy |
|
|
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
|
| Situs Inversus |
|
|
| Polycystic Kidney Disease |
|
|
| Fetal Akinesia Deformation Sequence 1 |
|
|
| Leber Plus Disease |
|
|
| Fundus Dystrophy |
|
|
| Primary Ciliary Dyskinesia |
|
|
| Cone-Rod Dystrophy 2 |
|
|