Cell adhesion molecule 1 is a protein that, in humans, is encoded by the CADM1 gene. [5] [6]
Cell adhesion molecule 1 is a protein that, in humans, is encoded by the CADM1 gene. [5] [6]
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Normal |
| Fertility | Abnormal |
| Body weight | Normal |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Normal |
| Rotarod | Normal |
| Non-Invasive Blood Pressure | Normal |
| Prepulse inhibition | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Normal |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Normal |
| Haematology | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Tail epidermis wholemount | Normal |
| Brain histopathology | Normal |
| Salmonella infection | Normal [7] |
| Citrobacter infection | Normal [8] |
| All tests and analysis from [9] |
Model organisms have been used in the study of CADM1 function. A conditional knockout mouse line, called Cadm1tm1.2Brd [10] was generated. [11] Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. [9] [12] Twenty six tests were carried out on homozygous mutant mice and one significant abnormality was observed: males were infertile. [9] Further analysis showed spermatogenesis had arrested in these mice. [11]
Cell adhesion molecule 1 has been shown to interact with EPB41L3. [13]
Genome-wide association studies identified an association between body mass index and two loci near the CADM1 and CADM2 gene. [14] Experimental results of another study showed that obese mice had an over expression of both CADM1 and CADM2 genes, and that loss of CADM1 protected mice from obesity, promoting a negative energy balance and weight loss. [15] Furthermore, a 2019 GWAS study revealed an association between Anorexia nervosa and CADM1. [16] In the brain, this genes mediate synaptic assembly, and mutations in CADM1 are also associated with Autistic spectrum disorder. [17]
The tumor suppressor gene FLCN encodes the protein folliculin, also known as Birt–Hogg–Dubé syndrome protein, which functions as an inhibitor of Lactate Dehydrogenase-A and a regulator of the Warburg effect. Folliculin (FLCN) is also associated with Birt–Hogg–Dubé syndrome, which is an autosomal dominant inherited cancer syndrome in which affected individuals are at risk for the development of benign cutaneous tumors (folliculomas), pulmonary cysts, and kidney tumors.
T-cadherin also known as cadherin 13, H-cadherin (heart) (CDH13) is a unique member of cadherin superfamily because it lacks the transmembrane and cytoplasmic domains and is anchored to the cells membrane through the GPI anchor. Classical cadherins are necessary for cell–cell contacts, dynamic regulation of morphogenetic processes in embryos and tissue integrity in adult organism. Cadherins function as membrane receptors mediating outside-in signals, activating small GTPases and beta-catenin/Wnt pathway, and resulting in dynamic cytoskeleton reorganization and changes in the phenotype.
Band 4.1-like protein 3 is a protein that in humans is encoded by the EPB41L3 gene.
Carcinoembryonic antigen-related cell adhesion molecule 1 (CEACAM1) also known as CD66a, is a human glycoprotein, and a member of the carcinoembryonic antigen (CEA) gene family.
5′-nucleotidase (5′-NT), also known as ecto-5′-nucleotidase or CD73, is an enzyme that in humans is encoded by the NT5E gene. CD73 commonly serves to convert AMP to adenosine.
SCRIB, also known as Scribble, SCRIBL, or Scribbled homolog (Drosophila), is a scaffold protein which in humans is encoded by the SCRIB gene. It was originally isolated in Drosophila melanogaster in a pathway with DLGAP5 and LLGL1 as a tumor suppressor. In humans, SCRIB is found as a membrane protein and is involved in cell migration, cell polarity, and cell proliferation in epithelial cells. There is also strong evidence that SCRIB may play a role in cancer progression because of its strong homology to the Drosophila protein.
Ras association domain-containing protein 5 is a protein that in humans is encoded by the RASSF5 or F5 gene.
Deleted in Liver Cancer 1 also known as DLC1 and StAR-related lipid transfer protein 12 (STARD12) is a protein which in humans is encoded by the DLC1 gene.
Large tumor suppressor kinase 1 (LATS1) is an enzyme that in humans is encoded by the LATS1 gene.
Opioid-binding protein/cell adhesion molecule is a protein that in humans is encoded by the OPCML gene.
Ras association domain-containing protein 2 is a protein that in humans is encoded by the RASSF2 gene.
Receptor-type tyrosine-protein phosphatase gamma is an enzyme that in humans is encoded by the PTPRG gene.
Receptor-type tyrosine-protein phosphatase T is an enzyme that in humans is encoded by the PTPRT gene.
Cell adhesion molecule 3 is a protein that in humans is encoded by the CADM3 gene.
Myosin-XVIIIb is a protein that in humans is encoded by the MYO18B gene.
Immunoglobulin superfamily, member 2 (IGSF2) also known as CD101, is a human gene.
Tumor suppressor candidate 2 is a protein that in humans is encoded by the TUSC2 gene.
Transmembrane protein 158 is a protein that in humans is encoded by the TMEM158 gene.
Nectins and Nectin-like molecules (Necl) are families of cellular adhesion molecules involved in Ca2+-independent cellular adhesion.
Nectin-3, also known as nectin cell adhesion molecule 3, is a protein that in humans is encoded by the NECTIN3 gene.