UniProt functional annotation for Q6ZMH5



	UniProt functional annotation for Q6ZMH5

UniProt code: Q6ZMH5.

Organism: Homo sapiens (Human).

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

Function: May play a role in polarized cells by carrying out serosal- to-mucosal zinc transport (By similarity). Seems to play a central role in controlling organismal zinc status (By similarity). Could regulate the BMP/TGF-beta (bone morphogenetic protein/transforming growth factor-beta) signaling pathway and modulates extracellular matrix (ECM) proteins of the sclera (PubMed:24891338). Plays a role in eye development (PubMed:24891338). {ECO:0000250|UniProtKB:Q9D856, ECO:0000269|PubMed:24891338}.

Subcellular location: Basolateral cell membrane {ECO:0000250|UniProtKB:Q9D856}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9D856}.

Tissue specificity: Expressed in liver, kidney, pancreas, small intestine, colon, spleen, fetal liver and fetal kidney. {ECO:0000269|PubMed:15322118}.

Ptm: Glycosylated. {ECO:0000250|UniProtKB:Q9D856}.

Ptm: Methylated at His-375 by METTL9. {ECO:0000269|PubMed:33563959}.

Disease: Myopia 24, autosomal dominant (MYP24) [MIM:615946]: A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. {ECO:0000269|PubMed:24891338, ECO:0000269|PubMed:25525168}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the ZIP transporter (TC 2.A.5) family. {ECO:0000305}.

Sequence caution: Sequence=AAH27884.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG36005.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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:		May play a role in polarized cells by carrying out serosal- to-mucosal zinc transport (By similarity). Seems to play a central role in controlling organismal zinc status (By similarity). Could regulate the BMP/TGF-beta (bone morphogenetic protein/transforming growth factor-beta) signaling pathway and modulates extracellular matrix (ECM) proteins of the sclera (PubMed:24891338). Plays a role in eye development (PubMed:24891338). {ECO:0000250\|UniProtKB:Q9D856, ECO:0000269\|PubMed:24891338}.


Subcellular location:		Basolateral cell membrane {ECO:0000250\|UniProtKB:Q9D856}; Multi-pass membrane protein {ECO:0000250\|UniProtKB:Q9D856}.
Tissue specificity:		Expressed in liver, kidney, pancreas, small intestine, colon, spleen, fetal liver and fetal kidney. {ECO:0000269\|PubMed:15322118}.
Ptm:		Glycosylated. {ECO:0000250\|UniProtKB:Q9D856}.
Ptm:		Methylated at His-375 by METTL9. {ECO:0000269\|PubMed:33563959}.
Disease:		Myopia 24, autosomal dominant (MYP24) [MIM:615946]: A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. {ECO:0000269\|PubMed:24891338, ECO:0000269\|PubMed:25525168}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the ZIP transporter (TC 2.A.5) family. {ECO:0000305}.
Sequence caution:		Sequence=AAH27884.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG36005.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};