Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23287
Gene name Gene Name - the full gene name approved by the HGNC.
ATP/GTP binding carboxypeptidase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AGTPBP1
Synonyms (NCBI Gene) Gene synonyms aliases
CCP1, CONDCA, NNA1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CONDCA
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q21.33
Summary Summary of gene provided in NCBI Entrez Gene.
NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs760300826 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs780631499 G>- Pathogenic Coding sequence variant, intron variant, stop gained, genic downstream transcript variant
rs943824159 G>A Pathogenic Genic downstream transcript variant, stop gained, coding sequence variant, intron variant
rs1554699491 C>A Pathogenic Genic downstream transcript variant, splice acceptor variant
rs1564034077 T>A Pathogenic Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019782 hsa-miR-375 Microarray 20215506
MIRT028252 hsa-miR-32-5p Sequencing 20371350
MIRT637120 hsa-miR-4797-5p HITS-CLIP 23824327
MIRT637118 hsa-miR-4699-3p HITS-CLIP 23824327
MIRT637119 hsa-miR-6501-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001754 Process Eye photoreceptor cell differentiation ISS
GO:0004181 Function Metallocarboxypeptidase activity ISS
GO:0005634 Component Nucleus IDA 23085998
GO:0005730 Component Nucleolus IDA
GO:0005737 Component Cytoplasm IDA 23085998
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606830 17258 ENSG00000135049
Protein
UniProt ID Q9UPW5
Protein name Cytosolic carboxypeptidase 1 (EC 3.4.17.-) (EC 3.4.17.24) (ATP/GTP-binding protein 1) (Nervous system nuclear protein induced by axotomy protein 1 homolog) (Protein deglutamylase CCP1)
Protein function Metallocarboxypeptidase that mediates protein deglutamylation of tubulin and non-tubulin target proteins (PubMed:22170066, PubMed:24022482, PubMed:30420557). Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18027 Pepdidase_M14_N 712 847 Cytosolic carboxypeptidase N-terminal domain Domain
PF00246 Peptidase_M14 859 1063 Zinc carboxypeptidase Domain
Sequence
MSKLKVIPEKSLTNNSRIVGLLAQLEKINAEPSESDTARYVTSKILHLAQSQEKTRREMT
AKGSTGMEILLSTLENTKDLQTTLNILSILVELVSAGGGRRVSFLVTKGGSQILLQLLMN
ASKESPPHEDLMVQIHSILAKIGPKDKKFGVKARINGALNITLNLVKQNLQNHRLVLPCL
QLLRVYSANSVNSVSLGKNGVVELMFKIIGPFSKKNSSLIKVALDTLAALLKSKTNARRA
VDRGYVQVLLTIYVDWHRHDNRHRNMLIRKGILQSLKSVTNIKLGRKAFIDANGMKILYN
TSQECLAVRTLDPLVNTSSLIMRKCFPKNRLPLPTIKSSFHFQLPVIPVTGPVAQLYSLP
PEVDDVVDESDDNDDIDVEAENETENEDDLDQNFKNDDIETDINKLKPQQEPGRTIEDLK
MYEHLFPELVDDFQDYDLISKEPKPFVFEGKVRGPIVVPTAGEETSGNSGNLRKVVMKEN
ISSKGDEGEKKSTFMDLAKEDIKDNDRTLQQQPGDQNRTISSVHGLNNDIVKALDRITLQ
NIPSQTAPGFTAEMKKDCSLPLTVLTCAKACPHMATCGNVLFEGRTVQLGKLCCTGVETE
DDEDTESNSSVEQASVEVPDGPTLHDPDLYIEIVKNTKSVPEYSEVAYPDYFGHIPPPFK
EPILERPYGVQRTKIAQDIERLIHQSDIIDRVVYDLDNPNYTIPEEGDILKFNSKFESGN
LRKVIQIRKNEYDLILNSDINSNHYHQWFYFEVSGMRPGVAYRFNIINCEKSNSQFNYGM
QPLMYSVQEALNARPWWIRMGTDICYYKNHFSRSSVAAGGQKGKSYYTITFTVNFPHKDD
VCYFAYH
YPYTYSTLQMHLQKLESAHNPQQIYFRKDVLCETLSGNSCPLVTITAMPESNY
YEHICHFRNRPYVFLSARVHPGETNASWVMKGTLEYLMSNNPTAQSLRESYIFKIVPMLN
PDGVINGNHRCSLSGEDLNRQWQSPSPDLHPTIYHAKGLLQYLAAVKRLPLVYCDYHGHS
RKKNVFMYGCSIKETVWHTNDNATSCDVVEDTGYRTLPKILSH
IAPAFCMSSCSFVVEKS
KESTARVVVWREIGVQRSYTMESTLCGCDQGKYKGLQIGTRELEEMGAKFCVGLLRLKRL
TSPLEYNLPSSLLDFENDLIESSCKVTSPTTYVLDEDEPRFLEEVDYSAESNDELDIELA
ENVGDYEPSAQEEVLSDSELSRTYLP
Sequence length 1226
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Developmental delay Global developmental delay, Profound global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Developmental regression Developmental regression rs1224421127
Neurodegenerative disorders with cerebellar atrophy NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY rs780631499, rs1554699491, rs1564041582, rs760300826, rs1564034077, rs1564046794, rs1564071824 30420557
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Renal Cell Associate 30976113
Cerebellar Ataxia Associate 30976113
Cerebellar Diseases Associate 30976113
Inclusion Body Myopathy With Early Onset Paget Disease And Frontotemporal Dementia Associate 30976113
Leukemia Myeloid Acute Associate 34655717
Muscular Atrophy Spinal Associate 30976113
Peripheral Nervous System Diseases Associate 30976113
Pontocerebellar Hypoplasia Type 1 Associate 30976113
Spinocerebellar Degenerations Associate 30976113