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Entry version 146 (12 Aug 2020)
Sequence version 3 (23 Oct 2007)
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Protein

Cytosolic carboxypeptidase 1

Gene

AGTPBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins (PubMed:30420557). Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5.By similarity1 Publication

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+By similarityNote: Binds 1 zinc ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi920ZincBy similarity1
Metal bindingi923ZincBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei970NucleophileBy similarity1
Metal bindingi1017ZincBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCarboxypeptidase, Hydrolase, Metalloprotease, Protease
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9UPW5

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8955332, Carboxyterminal post-translational modifications of tubulin

Protein family/group databases

MEROPS protease database

More...
MEROPSi
M14.028

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Cytosolic carboxypeptidase 1 (EC:3.4.17.-)
Alternative name(s):
ATP/GTP-binding protein 1
Nervous system nuclear protein induced by axotomy protein 1 homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AGTPBP1
Synonyms:CCP1, KIAA1035, NNA1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000135049.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17258, AGTPBP1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606830, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UPW5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Mitochondrion, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by early onset of progressive neurodegeneration affecting the central and peripheral nervous systems. Clinical features include global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. Death in childhood may occur.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_081908330 – 1226Missing in CONDCA. 1 PublicationAdd BLAST897
Natural variantiVAR_081909694Y → D in CONDCA; decreased tubulin deglutamylation shown by in vitro functional expression of the homologous murine variant. 1 Publication1
Natural variantiVAR_081910788 – 1226Missing in CONDCA. 1 PublicationAdd BLAST439
Natural variantiVAR_081911799R → C in CONDCA; unknown pathological significance. 1 Publication1
Natural variantiVAR_081912851T → M in CONDCA; decreased tubulin deglutamylation asshown by in vitro functional expression of the homologous murine variant. 1 PublicationCorresponds to variant dbSNP:rs760300826Ensembl.1
Natural variantiVAR_081913856 – 1226Missing in CONDCA; loss of tubulin deglutamylation; patient cells show lack of protein and excess of tubulin polyglutamylation. 1 PublicationAdd BLAST371
Natural variantiVAR_081914910R → C in CONDCA; unknown pathological significance. 1 Publication1
Natural variantiVAR_081915918R → W in CONDCA; decreased tubulin deglutamylation shown by in vitro functional expression of the homologous murine variant. 1 Publication1
Natural variantiVAR_081916990H → L in CONDCA; decreased tubulin deglutamylation shown by in vitro functional expression of the homologous murine variant. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
23287

MalaCards human disease database

More...
MalaCardsi
AGTPBP1
MIMi618276, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000135049

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2254, Pontocerebellar hypoplasia type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24630

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9UPW5, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AGTPBP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
160019039

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003086901 – 1226Cytosolic carboxypeptidase 1Add BLAST1226

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1168PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9UPW5

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9UPW5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9UPW5

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9UPW5

PeptideAtlas

More...
PeptideAtlasi
Q9UPW5

PRoteomics IDEntifications database

More...
PRIDEi
Q9UPW5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
85460 [Q9UPW5-1]
85461 [Q9UPW5-2]
85462 [Q9UPW5-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UPW5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9UPW5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000135049, Expressed in corpus callosum and 234 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UPW5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UPW5, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000135049, Tissue enhanced (bone)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with MYLK.

By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
116885, 22 interactors

Protein interaction database and analysis system

More...
IntActi
Q9UPW5, 17 interactors

Molecular INTeraction database

More...
MINTi
Q9UPW5

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000338512

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9UPW5, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9UPW5

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the peptidase M14 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3641, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157707

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_007391_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UPW5

KEGG Orthology (KO)

More...
KOi
K23435

Database of Orthologous Groups

More...
OrthoDBi
481670at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UPW5

TreeFam database of animal gene trees

More...
TreeFami
TF313794

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011989, ARM-like
IPR016024, ARM-type_fold
IPR040626, Pepdidase_M14_N
IPR000834, Peptidase_M14

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF18027, Pepdidase_M14_N, 1 hit
PF00246, Peptidase_M14, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371, SSF48371, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UPW5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSKLKVIPEK SLTNNSRIVG LLAQLEKINA EPSESDTARY VTSKILHLAQ
60 70 80 90 100
SQEKTRREMT AKGSTGMEIL LSTLENTKDL QTTLNILSIL VELVSAGGGR
110 120 130 140 150
RVSFLVTKGG SQILLQLLMN ASKESPPHED LMVQIHSILA KIGPKDKKFG
160 170 180 190 200
VKARINGALN ITLNLVKQNL QNHRLVLPCL QLLRVYSANS VNSVSLGKNG
210 220 230 240 250
VVELMFKIIG PFSKKNSSLI KVALDTLAAL LKSKTNARRA VDRGYVQVLL
260 270 280 290 300
TIYVDWHRHD NRHRNMLIRK GILQSLKSVT NIKLGRKAFI DANGMKILYN
310 320 330 340 350
TSQECLAVRT LDPLVNTSSL IMRKCFPKNR LPLPTIKSSF HFQLPVIPVT
360 370 380 390 400
GPVAQLYSLP PEVDDVVDES DDNDDIDVEA ENETENEDDL DQNFKNDDIE
410 420 430 440 450
TDINKLKPQQ EPGRTIEDLK MYEHLFPELV DDFQDYDLIS KEPKPFVFEG
460 470 480 490 500
KVRGPIVVPT AGEETSGNSG NLRKVVMKEN ISSKGDEGEK KSTFMDLAKE
510 520 530 540 550
DIKDNDRTLQ QQPGDQNRTI SSVHGLNNDI VKALDRITLQ NIPSQTAPGF
560 570 580 590 600
TAEMKKDCSL PLTVLTCAKA CPHMATCGNV LFEGRTVQLG KLCCTGVETE
610 620 630 640 650
DDEDTESNSS VEQASVEVPD GPTLHDPDLY IEIVKNTKSV PEYSEVAYPD
660 670 680 690 700
YFGHIPPPFK EPILERPYGV QRTKIAQDIE RLIHQSDIID RVVYDLDNPN
710 720 730 740 750
YTIPEEGDIL KFNSKFESGN LRKVIQIRKN EYDLILNSDI NSNHYHQWFY
760 770 780 790 800
FEVSGMRPGV AYRFNIINCE KSNSQFNYGM QPLMYSVQEA LNARPWWIRM
810 820 830 840 850
GTDICYYKNH FSRSSVAAGG QKGKSYYTIT FTVNFPHKDD VCYFAYHYPY
860 870 880 890 900
TYSTLQMHLQ KLESAHNPQQ IYFRKDVLCE TLSGNSCPLV TITAMPESNY
910 920 930 940 950
YEHICHFRNR PYVFLSARVH PGETNASWVM KGTLEYLMSN NPTAQSLRES
960 970 980 990 1000
YIFKIVPMLN PDGVINGNHR CSLSGEDLNR QWQSPSPDLH PTIYHAKGLL
1010 1020 1030 1040 1050
QYLAAVKRLP LVYCDYHGHS RKKNVFMYGC SIKETVWHTN DNATSCDVVE
1060 1070 1080 1090 1100
DTGYRTLPKI LSHIAPAFCM SSCSFVVEKS KESTARVVVW REIGVQRSYT
1110 1120 1130 1140 1150
MESTLCGCDQ GKYKGLQIGT RELEEMGAKF CVGLLRLKRL TSPLEYNLPS
1160 1170 1180 1190 1200
SLLDFENDLI ESSCKVTSPT TYVLDEDEPR FLEEVDYSAE SNDELDIELA
1210 1220
ENVGDYEPSA QEEVLSDSEL SRTYLP
Length:1,226
Mass (Da):138,448
Last modified:October 23, 2007 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA6D598D11D2BD1F8
GO
Isoform 2 (identifier: Q9UPW5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     304-343: Missing.

Show »
Length:1,186
Mass (Da):133,864
Checksum:iD5361B66224C04BE
GO
Isoform 3 (identifier: Q9UPW5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MSKLKVIPEKS → MRTGSAASSAAAAAAAAAASASPATGVCMKTPGGGRRGIRRDPGAEPGAAALRGPRQRPILSR
     304-343: Missing.

Show »
Length:1,238
Mass (Da):138,647
Checksum:i8119980498634DDF
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KNS1J3KNS1_HUMAN
Cytosolic carboxypeptidase 1
AGTPBP1
1,278Annotation score:

Annotation score:4 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA82987 differs from that shown. Reason: Frameshift.Curated
The sequence BAB14100 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB14505 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAG61460 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence CAH56222 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence EAW62697 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti274Q → R in BAA91749 (PubMed:14702039).Curated1
Sequence conflicti398 – 399DI → KK in CAH56222 (PubMed:17974005).Curated2
Sequence conflicti464E → G in BAA91749 (PubMed:14702039).Curated1
Sequence conflicti495M → V in BAB14505 (PubMed:14702039).Curated1
Sequence conflicti574M → V in BAB14100 (PubMed:14702039).Curated1
Sequence conflicti598E → G in BAA91749 (PubMed:14702039).Curated1
Sequence conflicti712F → I in CAH56222 (PubMed:17974005).Curated1
Sequence conflicti756M → T in BAB14100 (PubMed:14702039).Curated1
Sequence conflicti812S → P in BAB14505 (PubMed:14702039).Curated1
Sequence conflicti830T → A in CAH56158 (PubMed:17974005).Curated1
Sequence conflicti909N → D in BAB14505 (PubMed:14702039).Curated1
Sequence conflicti975G → R in BAG58598 (PubMed:14702039).Curated1
Sequence conflicti1054Y → F in BAB14505 (PubMed:14702039).Curated1
Sequence conflicti1153L → P in CAH56158 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081908330 – 1226Missing in CONDCA. 1 PublicationAdd BLAST897
Natural variantiVAR_036884423E → K in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_081909694Y → D in CONDCA; decreased tubulin deglutamylation shown by in vitro functional expression of the homologous murine variant. 1 Publication1
Natural variantiVAR_081910788 – 1226Missing in CONDCA. 1 PublicationAdd BLAST439
Natural variantiVAR_081911799R → C in CONDCA; unknown pathological significance. 1 Publication1
Natural variantiVAR_081912851T → M in CONDCA; decreased tubulin deglutamylation asshown by in vitro functional expression of the homologous murine variant. 1 PublicationCorresponds to variant dbSNP:rs760300826Ensembl.1
Natural variantiVAR_081913856 – 1226Missing in CONDCA; loss of tubulin deglutamylation; patient cells show lack of protein and excess of tubulin polyglutamylation. 1 PublicationAdd BLAST371
Natural variantiVAR_081914910R → C in CONDCA; unknown pathological significance. 1 Publication1
Natural variantiVAR_081915918R → W in CONDCA; decreased tubulin deglutamylation shown by in vitro functional expression of the homologous murine variant. 1 Publication1
Natural variantiVAR_081916990H → L in CONDCA; decreased tubulin deglutamylation shown by in vitro functional expression of the homologous murine variant. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0404221 – 11MSKLKVIPEKS → MRTGSAASSAAAAAAAAAAS ASPATGVCMKTPGGGRRGIR RDPGAEPGAAALRGPRQRPI LSR in isoform 3. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_029044304 – 343Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST40

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB028958 mRNA Translation: BAA82987.2 Frameshift.
AK001544 mRNA Translation: BAA91749.1
AK022562 mRNA Translation: BAB14100.1 Different initiation.
AK023280 mRNA Translation: BAB14505.1 Different initiation.
AK295774 mRNA Translation: BAG58598.1
AK299506 mRNA Translation: BAG61460.1 Different initiation.
AL157882 Genomic DNA No translation available.
AL451131 Genomic DNA No translation available.
CH471089 Genomic DNA Translation: EAW62694.1
CH471089 Genomic DNA Translation: EAW62698.1
CH471089 Genomic DNA Translation: EAW62697.1 Sequence problems.
BC060815 mRNA Translation: AAH60815.1
BX648366 mRNA Translation: CAH56158.1
AL833359 mRNA Translation: CAH56222.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6672.1 [Q9UPW5-2]
CCDS69615.1 [Q9UPW5-3]
CCDS83382.1 [Q9UPW5-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001273644.1, NM_001286715.1
NP_001273646.1, NM_001286717.1 [Q9UPW5-3]
NP_001317630.1, NM_001330701.1 [Q9UPW5-1]
NP_056054.2, NM_015239.2 [Q9UPW5-2]
XP_005251905.1, XM_005251848.2 [Q9UPW5-1]
XP_016870033.1, XM_017014544.1
XP_016870035.1, XM_017014546.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000357081; ENSP00000349592; ENSG00000135049 [Q9UPW5-1]
ENST00000376083; ENSP00000365251; ENSG00000135049 [Q9UPW5-2]
ENST00000628899; ENSP00000487074; ENSG00000135049 [Q9UPW5-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23287

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23287

UCSC genome browser

More...
UCSCi
uc010mqc.4, human [Q9UPW5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB028958 mRNA Translation: BAA82987.2 Frameshift.
AK001544 mRNA Translation: BAA91749.1
AK022562 mRNA Translation: BAB14100.1 Different initiation.
AK023280 mRNA Translation: BAB14505.1 Different initiation.
AK295774 mRNA Translation: BAG58598.1
AK299506 mRNA Translation: BAG61460.1 Different initiation.
AL157882 Genomic DNA No translation available.
AL451131 Genomic DNA No translation available.
CH471089 Genomic DNA Translation: EAW62694.1
CH471089 Genomic DNA Translation: EAW62698.1
CH471089 Genomic DNA Translation: EAW62697.1 Sequence problems.
BC060815 mRNA Translation: AAH60815.1
BX648366 mRNA Translation: CAH56158.1
AL833359 mRNA Translation: CAH56222.1 Different initiation.
CCDSiCCDS6672.1 [Q9UPW5-2]
CCDS69615.1 [Q9UPW5-3]
CCDS83382.1 [Q9UPW5-1]
RefSeqiNP_001273644.1, NM_001286715.1
NP_001273646.1, NM_001286717.1 [Q9UPW5-3]
NP_001317630.1, NM_001330701.1 [Q9UPW5-1]
NP_056054.2, NM_015239.2 [Q9UPW5-2]
XP_005251905.1, XM_005251848.2 [Q9UPW5-1]
XP_016870033.1, XM_017014544.1
XP_016870035.1, XM_017014546.1

3D structure databases

SMRiQ9UPW5
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi116885, 22 interactors
IntActiQ9UPW5, 17 interactors
MINTiQ9UPW5
STRINGi9606.ENSP00000338512

Protein family/group databases

MEROPSiM14.028

PTM databases

iPTMnetiQ9UPW5
PhosphoSitePlusiQ9UPW5

Polymorphism and mutation databases

BioMutaiAGTPBP1
DMDMi160019039

Proteomic databases

EPDiQ9UPW5
jPOSTiQ9UPW5
MassIVEiQ9UPW5
PaxDbiQ9UPW5
PeptideAtlasiQ9UPW5
PRIDEiQ9UPW5
ProteomicsDBi85460 [Q9UPW5-1]
85461 [Q9UPW5-2]
85462 [Q9UPW5-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
27717, 328 antibodies

Genome annotation databases

EnsembliENST00000357081; ENSP00000349592; ENSG00000135049 [Q9UPW5-1]
ENST00000376083; ENSP00000365251; ENSG00000135049 [Q9UPW5-2]
ENST00000628899; ENSP00000487074; ENSG00000135049 [Q9UPW5-3]
GeneIDi23287
KEGGihsa:23287
UCSCiuc010mqc.4, human [Q9UPW5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23287
DisGeNETi23287
EuPathDBiHostDB:ENSG00000135049.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
AGTPBP1
HGNCiHGNC:17258, AGTPBP1
HPAiENSG00000135049, Tissue enhanced (bone)
MalaCardsiAGTPBP1
MIMi606830, gene
618276, phenotype
neXtProtiNX_Q9UPW5
OpenTargetsiENSG00000135049
Orphaneti2254, Pontocerebellar hypoplasia type 1
PharmGKBiPA24630

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3641, Eukaryota
GeneTreeiENSGT00940000157707
HOGENOMiCLU_007391_0_0_1
InParanoidiQ9UPW5
KOiK23435
OrthoDBi481670at2759
PhylomeDBiQ9UPW5
TreeFamiTF313794

Enzyme and pathway databases

PathwayCommonsiQ9UPW5
ReactomeiR-HSA-8955332, Carboxyterminal post-translational modifications of tubulin

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
23287, 8 hits in 874 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
AGTPBP1, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
23287
PharosiQ9UPW5, Tbio

Protein Ontology

More...
PROi
PR:Q9UPW5
RNActiQ9UPW5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000135049, Expressed in corpus callosum and 234 other tissues
ExpressionAtlasiQ9UPW5, baseline and differential
GenevisibleiQ9UPW5, HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989, ARM-like
IPR016024, ARM-type_fold
IPR040626, Pepdidase_M14_N
IPR000834, Peptidase_M14
PfamiView protein in Pfam
PF18027, Pepdidase_M14_N, 1 hit
PF00246, Peptidase_M14, 1 hit
SUPFAMiSSF48371, SSF48371, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCBPC1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UPW5
Secondary accession number(s): B4DIT6
, B4DRZ8, Q5VV80, Q63HM7, Q658P5, Q6P9D6, Q9H8U6, Q9H9W8, Q9NVK1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: October 23, 2007
Last modified: August 12, 2020
This is version 146 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  6. Peptidase families
    Classification of peptidase families and list of entries
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