Aliases for IGSF1 Gene
External Ids for IGSF1 Gene
Previous GeneCards Identifiers for IGSF1 Gene
This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
GeneCards Summary for IGSF1 Gene
IGSF1 (Immunoglobulin Superfamily Member 1) is a Protein Coding gene. Diseases associated with IGSF1 include hypothyroidism, central, and testicular enlargement and x-linked central congenital hypothyroidism with late-onset testicular enlargement. Among its related pathways are Packaging Of Telomere Ends. GO annotations related to this gene include receptor activity and inhibin binding. An important paralog of this gene is KIR2DL4.
UniProtKB/Swiss-Prot for IGSF1 Gene
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.