UniProt functional annotation for Q8NDL9



	UniProt functional annotation for Q8NDL9

UniProt code: Q8NDL9.

Organism: Homo sapiens (Human).

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

Function: Metallocarboxypeptidase that mediates protein deglutamylation. Specifically catalyzes the deglutamylation of the branching point glutamate side chains generated by post-translational glutamylation in proteins such as tubulins. In contrast, it is not able to act as a long-chain deglutamylase that shortens long polyglutamate chains, a process catalyzed by AGTPBP1/CCP1, AGBL2/CCP2, AGBL3/CCP3, AGBL1/CCP4 and AGBL4/CCP6. Mediates deglutamylation of CGAS, regulating the antiviral activity of CGAS. {ECO:0000250|UniProtKB:Q09M02}.

Cofactor: Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000250|UniProtKB:P00730}; Note=Binds 1 zinc ion per subunit. {ECO:0000250|UniProtKB:P00730};

Subcellular location: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q09M02}. Nucleus {ECO:0000269|PubMed:23085998}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:23085998}. Midbody {ECO:0000269|PubMed:23085998}. Note=Mainly cytoplasmic. Slight accumulation in the nucleus is observed (By similarity). Colocalizes with alpha-tubulin in the mitotic spindle and with midbody microtubules in the intercellular bridges formed during cytokinesis. {ECO:0000250|UniProtKB:Q09M02, ECO:0000269|PubMed:23085998}.

Tissue specificity: Expressed in brain.

Disease: Retinitis pigmentosa 75 (RP75) [MIM:617023]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP75 inheritance is autosomal recessive. {ECO:0000269|PubMed:26355662, ECO:0000269|PubMed:26720455, ECO:0000269|PubMed:27764769, ECO:0000269|PubMed:27842159}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the peptidase M14 family. {ECO:0000305}.

Sequence caution: Sequence=AAX93164.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAY14655.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB15151.1; 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:		Metallocarboxypeptidase that mediates protein deglutamylation. Specifically catalyzes the deglutamylation of the branching point glutamate side chains generated by post-translational glutamylation in proteins such as tubulins. In contrast, it is not able to act as a long-chain deglutamylase that shortens long polyglutamate chains, a process catalyzed by AGTPBP1/CCP1, AGBL2/CCP2, AGBL3/CCP3, AGBL1/CCP4 and AGBL4/CCP6. Mediates deglutamylation of CGAS, regulating the antiviral activity of CGAS. {ECO:0000250\|UniProtKB:Q09M02}.


Cofactor:		Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000250\|UniProtKB:P00730}; Note=Binds 1 zinc ion per subunit. {ECO:0000250\|UniProtKB:P00730};
Subcellular location:		Cytoplasm, cytosol {ECO:0000250\|UniProtKB:Q09M02}. Nucleus {ECO:0000269\|PubMed:23085998}. Cytoplasm, cytoskeleton, spindle {ECO:0000269\|PubMed:23085998}. Midbody {ECO:0000269\|PubMed:23085998}. Note=Mainly cytoplasmic. Slight accumulation in the nucleus is observed (By similarity). Colocalizes with alpha-tubulin in the mitotic spindle and with midbody microtubules in the intercellular bridges formed during cytokinesis. {ECO:0000250\|UniProtKB:Q09M02, ECO:0000269\|PubMed:23085998}.
Tissue specificity:		Expressed in brain.
Disease:		Retinitis pigmentosa 75 (RP75) [MIM:617023]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP75 inheritance is autosomal recessive. {ECO:0000269\|PubMed:26355662, ECO:0000269\|PubMed:26720455, ECO:0000269\|PubMed:27764769, ECO:0000269\|PubMed:27842159}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the peptidase M14 family. {ECO:0000305}.
Sequence caution:		Sequence=AAX93164.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAY14655.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB15151.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};