SVBP
entrez
374969
canonical
uniprot
Q8N300
canonical
ensembl
ENSG00000177868
resolver
ensp
ENSP00000361599
resolver
ensp
ENSP00000361600
resolver
ensp
ENSP00000551614
resolver
ensp
ENSP00000551615
resolver
ensp
ENSP00000551616
resolver
ensp
ENSP00000598198
resolver
ensp
ENSP00000598199
resolver
enst
ENST00000372521
resolver
enst
ENST00000372522
resolver
enst
ENST00000881555
resolver
enst
ENST00000881556
resolver
enst
ENST00000881557
resolver
enst
ENST00000928139
resolver
enst
ENST00000928140
resolver
genesymbol
SVBP
resolver
genesymbol_syn
CCDC23
resolver
hgnc
HGNC:29204
resolver
uniprot
A8K5P1
resolver
uniprot
D3DPW7
resolver
uniprot_entry
SVBP_HUMAN
resolver
uniprot_sec
A8K5P1
resolver
uniprot_sec
D3DPW7
resolver
amino_acid_sequence
MDPPARKEKTKVKESVSRVEKAKQKSAQQELKQRQRAEIYALNRVMTELEQQQFDEFCKQMQPPGE
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly (NEDAHM) [MIM:618569]: An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, microcephaly, ataxia, and muscular hypotonia. {ECO:0000269|PubMed:30607023, ECO:0000269|PubMed:31363758}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Enhances the tyrosine carboxypeptidase activity of VASH1 and VASH2, thereby promoting the removal of the C-terminal tyrosine residue of alpha-tubulin (PubMed:29146869, PubMed:31171830, PubMed:31235910, PubMed:31235911, PubMed:31270470, PubMed:31324789). This activity is critical for spindle function and accurate chromosome segregation during mitosis since microtubule detyrosination regulates mitotic spindle length and postioning (PubMed:31171830). Also required to enhance the solubility and secretion of VASH1 and VASH2 (PubMed:20736312, PubMed:27879017, PubMed:30607023). Plays a role in axon and excitatory synapse formation (PubMed:31235911). {ECO:0000269|PubMed:20736312, ECO:0000269|PubMed:27879017, ECO:0000269|PubMed:29146869, ECO:0000269|PubMed:30607023, ECO:0000269|PubMed:31171830, ECO:0000269|PubMed:31235910, ECO:0000269|PubMed:31235911, ECO:0000269|PubMed:31270470, ECO:0000269|PubMed:31324789}.
uniprot
proteins
mass_dalton
7808
uniprot
proteins
mutagenesis
MUTAGEN 32; /note="K->E: Decreased VASH1 tyrosine carboxypeptidase activity on alpha-tubulin."; /evidence="ECO:0000269|PubMed:31270470"; MUTAGEN 34; /note="R->E: No effect on VASH1 tyrosine carboxypeptidase activity on alpha-tubulin."; /evidence="ECO:0000269|PubMed:31270470"; MUTAGEN 35..36; /note="QR->AA: Strongly decreased interaction with VASH1. Decreased VASH1 tyrosine carboxypeptidase activity on alpha-tubulin. Strongly decreased interaction with VASH2. Decreased VASH2 tyrosine carboxypeptidase activity on alpha-tubulin."; /evidence="ECO:0000269|PubMed:31171830, ECO:0000269|PubMed:31235911"; MUTAGEN 35; /note="Q->A: Decreased VASH1 tyrosine carboxypeptidase activity on alpha-tubulin."; /evidence="ECO:0000269|PubMed:31270470"; MUTAGEN 36; /note="R->E: Decreased VASH1 tyrosine carboxypeptidase activity on alpha-tubulin."; /evidence="ECO:0000269|PubMed:31270470"; MUTAGEN 39..42; /note="IYAL->EALE: Strongly decreased VASH1 tyrosine carboxypeptidase activity on alpha-tubulin."; /evidence="ECO:0000269|PubMed:31235910"; MUTAGEN 39..40; /note="IY->AA: Strongly decreased interaction with VASH1. Decreased VASH1 tyrosine carboxypeptidase activity on alpha-tubulin. Disrupted interaction with VASH2. Decreased VASH2 tyrosine carboxypeptidase activity on alpha-tubulin."; /evidence="ECO:0000269|PubMed:31171830, ECO:0000269|PubMed:31235911"; MUTAGEN 39; /note="I->E: No effect on VASH1 tyrosine carboxypeptidase activity on alpha-tubulin."; /evidence="ECO:0000269|PubMed:31235910"; MUTAGEN 40; /note="Y->F: No effect on VASH1 tyrosine carboxypeptidase activity on alpha-tubulin."; /evidence="ECO:0000269|PubMed:31270470"; MUTAGEN 42..43; /note="LN->AA: Decreased interaction with VASH1. Almost abolished VASH1 tyrosine carboxypeptidase activity on alpha-tubulin. Strongly decreased interaction with VASH2. Decreased VASH2 tyrosine carboxypeptidase activity on alpha-tubulin."; /evidence="ECO:0000269|PubMed:31171830, ECO:0000269|PubMed:31235911"; MUTAGEN 42; /note="L->E: No effect on VASH1 tyrosine carboxypeptidase activity on alpha-tubulin."; /evidence="ECO:0000269|PubMed:31235910"; MUTAGEN 43; /note="N->A: Decreased VASH1 tyrosine carboxypeptidase activity on alpha-tubulin."; /evidence="ECO:0000269|PubMed:31270470"; MUTAGEN 45..46; /note="VM->AA: Slightly decreased interaction with VASH1. Decreased VASH1 tyrosine carboxypeptidase activity on alpha-tubulin. No effect on interaction with VASH2. No effect on VASH2 tyrosine carboxypeptidase activity on alpha-tubulin."; /evidence="ECO:0000269|PubMed:31171830, ECO:0000269|PubMed:31235911"; MUTAGEN 47; /note="T->D: Decreased VASH1 tyrosine carboxypeptidase activity on alpha-tubulin."; /evidence="ECO:0000269|PubMed:31270470"; MUTAGEN 50..54; /note="EQQQF->AQQQA: No effect on interaction with VASH2. No effect on VASH2 tyrosine carboxypeptidase activity on alpha-tubulin."; /evidence="ECO:0000269|PubMed:31235911
uniprot
proteins
protein_family
SVBP family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
20736312
uniprot
proteins
pubmed
27879017
uniprot
proteins
pubmed
29146869
uniprot
proteins
pubmed
30607023
uniprot
proteins
pubmed
31171830
uniprot
proteins
pubmed
31235910
uniprot
proteins
pubmed
31235911
uniprot
proteins
pubmed
31270470
uniprot
proteins
pubmed
31324789
uniprot
proteins
pubmed
31363758
uniprot
proteins
sequence_length
66
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q99LQ4}. Secreted {ECO:0000250|UniProtKB:Q99LQ4}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:31235911}. Note=Detected both intracellularly and extracellularly (By similarity). Within cells, localizes mainly to the apical part of the cell (By similarity). {ECO:0000250|UniProtKB:Q99LQ4}.
uniprot
proteins