IGSF1

Members of the immunoglobulin (Ig) superfamily (see MIM 147100), which includes IGSF1, have a variety of functions, but all appear to play a role in cell recognition and the regulation of cell behavior.[supplied by OMIM

Full Name

immunoglobulin superfamily, member 1

Function

Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor. Antagonizes activin A signaling in the presence or absence of inhibin B (By similarity).

Necessary to mediate a specific antagonistic effect of inhibin B on activin-stimulated transcription.

Biological Process

Negative regulation of activin receptor signaling pathway Source: UniProtKB
Regulation of transcription, DNA-templated Source: UniProtKB

Cellular Location

Isoform 1&2: Membrane
Isoform 3: Secreted

Involvement in disease

Hypothyroidism, central, and testicular enlargement (CHTE):
A disorder characterized by insufficient thyroid gland stimulation by thyroid stimulating hormone (TSH), resulting from hypothalamic and/or pituitary dysfunction. CHTE patients have delayed testosterone increase at puberty with normal testosterone levels in adulthood, normal testicular volume in childhood and enlarged testicles in adulthood.

Topology

Extracellular: 29-518
Helical: 519-539
Cytoplasmic: 540-559
Helical: 560-580
Extracellular: 581-1336