M04D5.1

Caenorhabditis elegans

Predicted to enable protein disulfide isomerase activity. Predicted to be involved in protein folding and response to endoplasmic reticulum stress. Predicted to be located in endoplasmic reticulum. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Is an ortholog of human P4HB (prolyl 4-hydroxylase subunit beta); PDIA2 (protein disulfide isomerase family A member 2); and PDILT (protein disulfide isomerase like, testis expressed).

pdi-2

Caenorhabditis elegans

Enables protein disulfide isomerase activity and protein-glutamine gamma-glutamyltransferase activity. Contributes to peptidyl-proline 4-dioxygenase activity. Involved in IRE1-mediated unfolded protein response. Located in endoplasmic reticulum. Part of procollagen-proline 4-dioxygenase complex. Expressed in several structures, including germ line and hypodermis. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Is an ortholog of human P4HB (prolyl 4-hydroxylase subunit beta).

pdi-1

Caenorhabditis elegans

Enables protein disulfide isomerase activity and protein-glutamine gamma-glutamyltransferase activity. Involved in IRE1-mediated unfolded protein response. Predicted to be located in endoplasmic reticulum. Expressed in hypodermis. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Is an ortholog of human P4HB (prolyl 4-hydroxylase subunit beta).

sec-24.1

Caenorhabditis elegans

Predicted to enable SNARE binding activity and zinc ion binding activity. Predicted to be involved in COPII-coated vesicle cargo loading. Predicted to be located in endoplasmic reticulum exit site. Predicted to be part of COPII vesicle coat. Expressed widely. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Is an ortholog of human SEC24D (SEC24 homolog D, COPII coat complex component).

Sec24d

Rattus norvegicus

Predicted to enable SNARE binding activity and zinc ion binding activity. Predicted to be involved in COPII-coated vesicle cargo loading. Predicted to act upstream of or within in utero embryonic development. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be part of COPII vesicle coat. Predicted to be active in endoplasmic reticulum exit site. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Orthologous to human SEC24D (SEC24 homolog D, COPII coat complex component); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene; amphetamine.

Tpe1

Mus musculus

PHENOTYPE: This locus controls electrophoretic variation of a protein in tears. A co-dominant fast band is seen in C3H/He, CBA/N, IC/Le, KK, SWM/MS, WB/Re and WC/Re; a co-dominant slow band in DBA/1, DBA/2, C57L, NZB, NZW and SM; and a recessive null allele (no band) in BALB/c, A/He, AKR, CL/Fr, DDD and NC. [provided by MGI curators]

Sec24d

Homo sapiens

The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

P4hb

Rattus norvegicus

Enables enzyme binding activity and protein disulfide isomerase activity. Predicted to be involved in several processes, including positive regulation of substrate adhesion-dependent cell spreading; positive regulation of viral entry into host cell; and protein maturation. Predicted to act upstream of with a positive effect on endoplasmic reticulum to Golgi vesicle-mediated transport. Predicted to act upstream of or within cellular response to interleukin-7. Predicted to be located in several cellular components, including cytosol; endoplasmic reticulum-Golgi intermediate compartment; and lamellipodium. Predicted to be part of endoplasmic reticulum chaperone complex and procollagen-proline 4-dioxygenase complex. Predicted to be active in endoplasmic reticulum lumen and external side of plasma membrane. Human ortholog(s) of this gene implicated in Cole-Carpenter syndrome. Orthologous to human P4HB (prolyl 4-hydroxylase subunit beta); PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; INTERACTS WITH (S)-nicotine; 1,3-dinitrobenzene; 17alpha-ethynylestradiol.