UniProt functional annotation for Q13635



	UniProt functional annotation for Q13635

UniProt code: Q13635.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis. {ECO:0000269|PubMed:21537345}.

Subunit: Interacts with SNX17 (PubMed:15769472). Interacts with IHH (PubMed:21537345). Interacts with G-protein coupled receptor GPR37L1 (By similarity). {ECO:0000250|UniProtKB:Q61115, ECO:0000269|PubMed:15769472, ECO:0000269|PubMed:21537345}.

Subcellular location: Cell membrane {ECO:0000250|UniProtKB:Q61115}; Multi-pass membrane protein {ECO:0000255}.

Tissue specificity: In the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas and kidney. Expressed in tumor cells but not in normal skin.

Developmental stage: In the embryo, found in all major target tissues of sonic hedgehog, such as the ventral neural tube, somites, and tissues surrounding the zone of polarizing activity of the limb bud.

Ptm: Glycosylation is necessary for SHH binding. {ECO:0000250}.

Ptm: In the absence of Hh ligands, ubiquitination by ITCH at Lys-1426 promotes endocytosis and both proteasomal and lysosomal degradation. {ECO:0000250|UniProtKB:Q61115}.

Disease: Basal cell nevus syndrome (BCNS) [MIM:109400]: An autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. {ECO:0000269|PubMed:11231326, ECO:0000269|PubMed:15459969, ECO:0000269|PubMed:8840969, ECO:0000269|PubMed:8981943, ECO:0000269|PubMed:9620294}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Disease: Basal cell carcinoma (BCC) [MIM:605462]: A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. {ECO:0000269|PubMed:8658145, ECO:0000269|PubMed:9620294}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Holoprosencephaly 7 (HPE7) [MIM:610828]: A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. {ECO:0000269|PubMed:11941477, ECO:0000269|PubMed:17001668, ECO:0000269|PubMed:17096318}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the patched family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis. {ECO:0000269\|PubMed:21537345}.


Subunit:		Interacts with SNX17 (PubMed:15769472). Interacts with IHH (PubMed:21537345). Interacts with G-protein coupled receptor GPR37L1 (By similarity). {ECO:0000250\|UniProtKB:Q61115, ECO:0000269\|PubMed:15769472, ECO:0000269\|PubMed:21537345}.
Subcellular location:		Cell membrane {ECO:0000250\|UniProtKB:Q61115}; Multi-pass membrane protein {ECO:0000255}.
Tissue specificity:		In the adult, expressed in brain, lung, liver, heart, placenta, skeletal muscle, pancreas and kidney. Expressed in tumor cells but not in normal skin.
Developmental stage:		In the embryo, found in all major target tissues of sonic hedgehog, such as the ventral neural tube, somites, and tissues surrounding the zone of polarizing activity of the limb bud.
Ptm:		Glycosylation is necessary for SHH binding. {ECO:0000250}.
Ptm:		In the absence of Hh ligands, ubiquitination by ITCH at Lys-1426 promotes endocytosis and both proteasomal and lysosomal degradation. {ECO:0000250\|UniProtKB:Q61115}.
Disease:		Basal cell nevus syndrome (BCNS) [MIM:109400]: An autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. {ECO:0000269\|PubMed:11231326, ECO:0000269\|PubMed:15459969, ECO:0000269\|PubMed:8840969, ECO:0000269\|PubMed:8981943, ECO:0000269\|PubMed:9620294}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Disease:		Basal cell carcinoma (BCC) [MIM:605462]: A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. {ECO:0000269\|PubMed:8658145, ECO:0000269\|PubMed:9620294}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Holoprosencephaly 7 (HPE7) [MIM:610828]: A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. {ECO:0000269\|PubMed:11941477, ECO:0000269\|PubMed:17001668, ECO:0000269\|PubMed:17096318}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the patched family. {ECO:0000305}.