UniProt functional annotation for Q9HD26



	UniProt functional annotation for Q9HD26

UniProt code: Q9HD26.

Organism: Homo sapiens (Human).

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

Function: Plays a role in intracellular protein trafficking and degradation. May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels. May also regulate the intracellular trafficking of the ADR1B receptor. May play a role in autophagy. Overexpression results in CFTR intracellular retention and degradation in the lysosomes. {ECO:0000269|PubMed:11707463, ECO:0000269|PubMed:14570915, ECO:0000269|PubMed:15358775}.

Subunit: Homooligomer. Interacts with FZD5, FZD8, GRID2, BECN1, CSPG5 and CLCN3. May interact with CACNG2 (By similarity). Interacts with STX6, CFTR, ASIC3, GOLGA3, NLGN1 and RHOQ. {ECO:0000250, ECO:0000269|PubMed:11384996, ECO:0000269|PubMed:11707463, ECO:0000269|PubMed:15317815, ECO:0000269|PubMed:15358775, ECO:0000269|PubMed:15546864, ECO:0000269|PubMed:15951434, ECO:0000269|PubMed:16882988}.

Subcellular location: Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein. Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Cell junction, synapse {ECO:0000250}. Cell junction, synapse, postsynaptic density {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Note=Enriched in synaptosomal and postsynaptic densities (PSD) fractions. Expressed in cell bodies and dendrites of Purkinje cells. Localized at the trans-Golgi network (TGN) of spermatids and the medulla of round spermatides. {ECO:0000250}.

Tissue specificity: Ubiquitously expressed. {ECO:0000269|PubMed:11162552, ECO:0000269|PubMed:11384996, ECO:0000269|PubMed:11707463}.

Domain: The PDZ domain mediates interactions with FZD5, FZD8, ASIC3, GRID2, CLCN3 (By similarity). Mediates also interaction with CFTR and ADRB1. {ECO:0000250, ECO:0000269|PubMed:11707463, ECO:0000269|PubMed:15358775}.

Domain: The coiled-coil region probably mediates association to membranes, targeting to the Golgi, and interactions with GOLGA3, and STX6. May also mediate interaction with RHOQ (By similarity). {ECO:0000250}.

Disease: Note=A chromosomal aberration involving GOPC is found in a glioblastoma multiforme sample. An intra-chromosomal deletion del(6)(q21q21) is responsible for the formation of GOPC-ROS1 chimeric protein which has a constitutive receptor tyrosine kinase activity. {ECO:0000269|PubMed:12661006}.

Sequence caution: Sequence=BAD92622.1; Type=Erroneous initiation; Evidence={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:		Plays a role in intracellular protein trafficking and degradation. May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels. May also regulate the intracellular trafficking of the ADR1B receptor. May play a role in autophagy. Overexpression results in CFTR intracellular retention and degradation in the lysosomes. {ECO:0000269\|PubMed:11707463, ECO:0000269\|PubMed:14570915, ECO:0000269\|PubMed:15358775}.


Subunit:		Homooligomer. Interacts with FZD5, FZD8, GRID2, BECN1, CSPG5 and CLCN3. May interact with CACNG2 (By similarity). Interacts with STX6, CFTR, ASIC3, GOLGA3, NLGN1 and RHOQ. {ECO:0000250, ECO:0000269\|PubMed:11384996, ECO:0000269\|PubMed:11707463, ECO:0000269\|PubMed:15317815, ECO:0000269\|PubMed:15358775, ECO:0000269\|PubMed:15546864, ECO:0000269\|PubMed:15951434, ECO:0000269\|PubMed:16882988}.
Subcellular location:		Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein. Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Cell junction, synapse {ECO:0000250}. Cell junction, synapse, postsynaptic density {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Note=Enriched in synaptosomal and postsynaptic densities (PSD) fractions. Expressed in cell bodies and dendrites of Purkinje cells. Localized at the trans-Golgi network (TGN) of spermatids and the medulla of round spermatides. {ECO:0000250}.
Tissue specificity:		Ubiquitously expressed. {ECO:0000269\|PubMed:11162552, ECO:0000269\|PubMed:11384996, ECO:0000269\|PubMed:11707463}.
Domain:		The PDZ domain mediates interactions with FZD5, FZD8, ASIC3, GRID2, CLCN3 (By similarity). Mediates also interaction with CFTR and ADRB1. {ECO:0000250, ECO:0000269\|PubMed:11707463, ECO:0000269\|PubMed:15358775}.
Domain:		The coiled-coil region probably mediates association to membranes, targeting to the Golgi, and interactions with GOLGA3, and STX6. May also mediate interaction with RHOQ (By similarity). {ECO:0000250}.
Disease:		Note=A chromosomal aberration involving GOPC is found in a glioblastoma multiforme sample. An intra-chromosomal deletion del(6)(q21q21) is responsible for the formation of GOPC-ROS1 chimeric protein which has a constitutive receptor tyrosine kinase activity. {ECO:0000269\|PubMed:12661006}.
Sequence caution:		Sequence=BAD92622.1; Type=Erroneous initiation; Evidence={ECO:0000305};