INSL3
Insulin-like 3
Also known as: INSL3_HUMAN, MGC119818, MGC119819, RLF, RLNL
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P51460
- Gene
- INSL3
- Ensembl
- ENSG00000248099
- Chromosome
- 19
- Canonical length
- 131 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted secreted proteins
- Secretome location
- Secreted to blood
OverviewNCBI Gene
This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
Canonical amino-acid sequenceUniProt
131 residues, UniProt reviewed canonical sequence.
>P51460|INSL3
1 MDPRLPAWAL VLLGPALVFA LGPAPTPEMR EKLCGHHFVR ALVRVCGGPR WSTEARRPAT
61 GGDRELLQWL ERRHLLHGLV ADSNLTLGPG LQPLPQTSHH HRHHRAAATN PARYCCLSGC
121 TQQDLLTLCP YLocalizationUniProt · AlphaFold · HPA
Whether an antibody against INSL3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.53
- Highest tissue expression
- 383 nTPM
Expression across tissuesHPA
Tissue
- testis: 383 nTPM
- ovary: 121 nTPM
- spleen: 4.9 nTPM
- appendix: 4.5 nTPM
- lymph node: 2.7 nTPM
- bone marrow: 1.7 nTPM
Single-cell type
- peritubular myoid cells: 772 nCPM
- leydig cells: 601 nCPM
- late spermatids: 16 nCPM
- neutrophils: 9.7 nCPM
- ovarian stromal cells: 6.3 nCPM
- undifferentiated spermatogonia: 5.9 nCPM
Immune cell
- neutrophil: 2.2 nTPM
- naive B-cell: 1.1 nTPM
- naive CD8 T-cell: 1.1 nTPM
- memory CD4 T-cell: 0.9 nTPM
- memory CD8 T-cell: 0.9 nTPM
- T-reg: 0.8 nTPM
Brain region
- cerebellum: 4.9 nTPM
- cerebral cortex: 3.5 nTPM
- thalamus: 3.4 nTPM
- hypothalamus: 3.2 nTPM
- pons: 3.2 nTPM
- choroid plexus: 3.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about INSL3.
Disease | AllUniProt
Conditions INSL3 is implicated in, by any mechanism.
- Cryptorchidism (CRYPTO) MIM:219050
Disease | GeneticClinVar
7 pathogenic / likely-pathogenic of 58 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cryptorchidism
- Inborn genetic diseases
- Bilateral cryptorchidism
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.59
- gnomAD pLI
- 0.02
- gnomAD missense Z
- 0.51
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway
- cell-cell signaling
- positive regulation of epithelial cell migration
- positive regulation of wound healing
- spermatogenesis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Insulin-like
- Insulin, conserved site
- Insulin-like superfamily
- Insulin/IGF/Relaxin family
- Insulin-like INSL3/INSL4
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads INSL3 as an antibody target. Whether an autoantibody or antibody against INSL3 could matter depends on whether native INSL3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
INSL3 is annotated as secreted, so native INSL3 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label INSL3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...