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UniProtKB - Q8NDL9 (CBPC5_HUMAN)

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Protein

Cytosolic carboxypeptidase-like protein 5

Gene

AGBL5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.By similarity

Cofactori

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi252ZincBy similarity1
Metal bindingi255ZincBy similarity1
Active sitei303NucleophileBy similarity1
Metal bindingi434ZincBy similarity1

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

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

Enzyme and pathway databases

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

Protein family/group databases

MEROPSiM14.025

Names & Taxonomyi

Protein namesi
Recommended name:
Cytosolic carboxypeptidase-like protein 5 (EC:3.4.17.-)
Alternative name(s):
ATP/GTP-binding protein-like 5
Gene namesi
Name:AGBL5
Synonyms:CCP5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000084693.15
HGNCiHGNC:26147 AGBL5
MIMi615900 gene
neXtProtiNX_Q8NDL9

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 75 (RP75)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:617023
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079522108P → R in RP75; unknown pathological significance. 1 Publication1
Natural variantiVAR_079523251V → G in RP75; unknown pathological significance. 1 Publication1
Natural variantiVAR_077018276R → W in RP75. 1 PublicationCorresponds to variant dbSNP:rs879253769EnsemblClinVar.1
Natural variantiVAR_079524281R → C in RP75; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780394281Ensembl.1
Natural variantiVAR_077019295D → N in RP75. 1 PublicationCorresponds to variant dbSNP:rs879253768EnsemblClinVar.1
Natural variantiVAR_079525487 – 886Missing in RP75. 1 PublicationAdd BLAST400
Natural variantiVAR_079526592 – 886Missing in RP75. 1 PublicationAdd BLAST295

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi60509
MalaCardsiAGBL5
MIMi617023 phenotype
OpenTargetsiENSG00000084693
PharmGKBiPA162375816

Polymorphism and mutation databases

BioMutaiAGBL5
DMDMi74715354

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003059211 – 886Cytosolic carboxypeptidase-like protein 5Add BLAST886

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei841PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NDL9
MaxQBiQ8NDL9
PaxDbiQ8NDL9
PeptideAtlasiQ8NDL9
PRIDEiQ8NDL9
ProteomicsDBi73036
73037 [Q8NDL9-2]
73038 [Q8NDL9-3]

PTM databases

iPTMnetiQ8NDL9
PhosphoSitePlusiQ8NDL9

Expressioni

Tissue specificityi

Expressed in brain.

Gene expression databases

BgeeiENSG00000084693
CleanExiHS_AGBL5
ExpressionAtlasiQ8NDL9 baseline and differential
GenevisibleiQ8NDL9 HS

Organism-specific databases

HPAiHPA030981

Interactioni

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi121935, 6 interactors
IntActiQ8NDL9, 1 interactor
MINTiQ8NDL9
STRINGi9606.ENSP00000353249

Structurei

3D structure databases

ProteinModelPortaliQ8NDL9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi540 – 544Poly-Pro5
Compositional biasi651 – 654Poly-Ser4

Sequence similaritiesi

Belongs to the peptidase M14 family.Curated

Phylogenomic databases

eggNOGiKOG3641 Eukaryota
COG2866 LUCA
GeneTreeiENSGT00550000074405
HOVERGENiHBG068187
InParanoidiQ8NDL9
OMAiDQRFPEN
OrthoDBiEOG091G03CV
PhylomeDBiQ8NDL9
TreeFamiTF324301

Family and domain databases

CDDicd06236 M14_AGBL5_like, 1 hit
InterProiView protein in InterPro
IPR034286 M14_AGBL5-like
IPR000834 Peptidase_M14
PfamiView protein in Pfam
PF00246 Peptidase_M14, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NDL9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MELRCGGLLF SSRFDSGNLA HVEKVESLSS DGEGVGGGAS ALTSGIASSP 
        60         70         80         90        100
DYEFNVWTRP DCAETEFENG NRSWFYFSVR GGMPGKLIKI NIMNMNKQSK 
       110        120        130        140        150
LYSQGMAPFV RTLPTRPRWE RIRDRPTFEM TETQFVLSFV HRFVEGRGAT 
       160        170        180        190        200
TFFAFCYPFS YSDCQELLNQ LDQRFPENHP THSSPLDTIY YHRELLCYSL 
       210        220        230        240        250
DGLRVDLLTI TSCHGLREDR EPRLEQLFPD TSTPRPFRFA GKRIFFLSSR 
       260        270        280        290        300
VHPGETPSSF VFNGFLDFIL RPDDPRAQTL RRLFVFKLIP MLNPDGVVRG 
       310        320        330        340        350
HYRTDSRGVN LNRQYLKPDA VLHPAIYGAK AVLLYHHVHS RLNSQSSSEH 
       360        370        380        390        400
QPSSCLPPDA PVSDLEKANN LQNEAQCGHS ADRHNAEAWK QTEPAEQKLN 
       410        420        430        440        450
SVWIMPQQSA GLEESAPDTI PPKESGVAYY VDLHGHASKR GCFMYGNSFS 
       460        470        480        490        500
DESTQVENML YPKLISLNSA HFDFQGCNFS EKNMYARDRR DGQSKEGSGR 
       510        520        530        540        550
VAIYKASGII HSYTLECNYN TGRSVNSIPA ACHDNGRASP PPPPAFPSRY 
       560        570        580        590        600
TVELFEQVGR AMAIAALDMA ECNPWPRIVL SEHSSLTNLR AWMLKHVRNS 
       610        620        630        640        650
RGLSSTLNVG VNKKRGLRTP PKSHNGLPVS CSENTLSRAR SFSTGTSAGG 
       660        670        680        690        700
SSSSQQNSPQ MKNSPSFPFH GSRPAGLPGL GSSTQKVTHR VLGPVREPRS 
       710        720        730        740        750
QDRRRQQQPL NHRPAGSLAP SPAPTSSGPA SSHKLGSCLL PDSFNIPGSS 
       760        770        780        790        800
CSLLSSGDKP EAVMVIGKGL LGTGARMPCI KTRLQARPRL GRGSPPTRRG 
       810        820        830        840        850
MKGSSGPTSP TPRTRESSEL ELGSCSATPG LPQARPPRPR SAPAFSPISC 
       860        870        880 
SLSDSPSWNC YSRGPLGQPE VCFVPKSPPL TVSPRV
Length:886
Mass (Da):97,534
Last modified:October 1, 2002 - v1
Checksum:i0948AD0F37B0725A
GO
Isoform 2 (identifier: Q8NDL9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     786-816: ARPRLGRGSPPTRRGMKGSSGPTSPTPRTRE → TCPRRVSARRGPGFPRLGPGWAGAHRRLAEG
     817-886: Missing.

Note: No experimental confirmation available.
Show »
Length:816
Mass (Da):90,252
Checksum:iFD717AAC3A12A1BE
GO
Isoform 3 (identifier: Q8NDL9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     697-717: EPRSQDRRRQQQPLNHRPAGS → GKPVWEPLQHVFGCLGHCWGK
     718-886: Missing.

Note: No experimental confirmation available.
Show »
Length:717
Mass (Da):80,016
Checksum:i67418CCF89A6734E
GO

Sequence cautioni

The sequence AAX93164 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence AAY14655 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAB15151 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti38 – 40GAS → CLL in AAI31499 (PubMed:15489334).Curated3
Sequence conflicti94N → S in BAH13623 (PubMed:14702039).Curated1
Sequence conflicti122I → R in AAI31499 (PubMed:15489334).Curated1
Sequence conflicti672S → G in BAB15151 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079522108P → R in RP75; unknown pathological significance. 1 Publication1
Natural variantiVAR_079523251V → G in RP75; unknown pathological significance. 1 Publication1
Natural variantiVAR_077018276R → W in RP75. 1 PublicationCorresponds to variant dbSNP:rs879253769EnsemblClinVar.1
Natural variantiVAR_079524281R → C in RP75; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780394281Ensembl.1
Natural variantiVAR_077019295D → N in RP75. 1 PublicationCorresponds to variant dbSNP:rs879253768EnsemblClinVar.1
Natural variantiVAR_079525487 – 886Missing in RP75. 1 PublicationAdd BLAST400
Natural variantiVAR_079526592 – 886Missing in RP75. 1 PublicationAdd BLAST295
Natural variantiVAR_035231649G → D. Corresponds to variant dbSNP:rs35804461Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_028359697 – 717EPRSQ…RPAGS → GKPVWEPLQHVFGCLGHCWG K in isoform 3. 2 PublicationsAdd BLAST21
Alternative sequenceiVSP_028360718 – 886Missing in isoform 3. 2 PublicationsAdd BLAST169
Alternative sequenceiVSP_028361786 – 816ARPRL…PRTRE → TCPRRVSARRGPGFPRLGPG WAGAHRRLAEG in isoform 2. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_028362817 – 886Missing in isoform 2. 1 PublicationAdd BLAST70

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL833844 mRNA Translation: CAD38704.1
AK302091 mRNA Translation: BAH13623.1
AC013403 Genomic DNA Translation: AAX93164.1 Sequence problems.
AC013472 Genomic DNA Translation: AAY14655.1 Sequence problems.
CH471053 Genomic DNA Translation: EAX00649.1
CH471053 Genomic DNA Translation: EAX00651.1
CH471053 Genomic DNA Translation: EAX00652.1
CH471053 Genomic DNA Translation: EAX00653.1
BC007415 mRNA Translation: AAH07415.2
BC018584 mRNA No translation available.
BC131498 mRNA Translation: AAI31499.1
AK023398 mRNA Translation: BAB14560.1
AK025492 mRNA Translation: BAB15151.1 Different initiation.
CCDSiCCDS1732.3 [Q8NDL9-1]
CCDS42665.1 [Q8NDL9-3]
RefSeqiNP_001030584.1, NM_001035507.2 [Q8NDL9-3]
NP_068603.4, NM_021831.5
XP_011531313.1, XM_011533011.2 [Q8NDL9-1]
XP_011531314.1, XM_011533012.2 [Q8NDL9-1]
XP_011531315.1, XM_011533013.2 [Q8NDL9-1]
UniGeneiHs.138207

Genome annotation databases

EnsembliENST00000323064; ENSP00000323681; ENSG00000084693 [Q8NDL9-3]
ENST00000360131; ENSP00000353249; ENSG00000084693 [Q8NDL9-1]
ENST00000487078; ENSP00000433830; ENSG00000084693 [Q8NDL9-2]
GeneIDi60509
KEGGihsa:60509
UCSCiuc002rid.4 human [Q8NDL9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCBPC5_HUMAN
AccessioniPrimary (citable) accession number: Q8NDL9
Secondary accession number(s): A2VDI7
, B7WPG9, B7Z7I7, D6W548, Q53SW0, Q53SZ0, Q96IK8, Q9H6V0, Q9H8P8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 1, 2002
Last modified: June 20, 2018
This is version 119 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

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