mpdu-1

Caenorhabditis elegans

Acts upstream of or within IRE1-mediated unfolded protein response. Predicted to be located in membrane. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation If. Is an ortholog of human MPDU1 (mannose-P-dolichol utilization defect 1).

Mtif2

Homo sapiens

During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins. [provided by RefSeq, Mar 2016]

CJA21511

Caenorhabditis japonica

Is predicted to encode a protein with the following domains: Translation initiation factor IF- 2, domain 3; Translation initiation factor IF- 2; Translation initiation factor IF-2, domain 3 superfamily; Translation protein, beta-barrel domain superfamily; and Translation-initiation factor 2. Is an ortholog of C. elegans iffb-1.

ced-13

Caenorhabditis elegans

Enables BH domain binding activity. Involved in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator and positive regulation of apoptotic process.

MPDU1-AS1

Homo sapiens

ASSOCIATED WITH congenital disorder of glycosylation; congenital disorder of glycosylation If; genetic disease

chn-1

Caenorhabditis elegans

Enables Hsp70 protein binding activity; ubiquitin protein ligase binding activity; and ubiquitin-ubiquitin ligase activity. Involved in several processes, including determination of adult lifespan; egg-laying behavior; and protein ubiquitination. Located in cytoplasm. Expressed in several structures, including copulatory spicule; germ line; hermaphrodite distal tip cell; intestine; and pharynx. Used to study Duchenne muscular dystrophy. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 16 and cerebellar ataxia type 48. Is an ortholog of human STUB1 (STIP1 homology and U-box containing protein 1).

bam-2

Caenorhabditis elegans

Predicted to be involved in nervous system development. Located in plasma membrane. Expressed in head neurons; somatic gonad; tail neurons; ventral cord neurons; and vulF.

Synm

Homo sapiens

The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Socs3

Mus musculus

PHENOTYPE: Mice homozygous for mutations cause impairment if gene expression show immunological and hematopoetic abnormalities. Complete gene disruption causes lethality. [provided by MGI curators]

Dbh

Mus musculus

PHENOTYPE: Homozygous mutants are embryonic lethal probably due to cardiovascular failure, but survive if treated to replace their dopamine deficit. [provided by MGI curators]