Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	23287
Gene name	ATP/GTP binding carboxypeptidase 1
Gene symbol	AGTPBP1
Synonyms (NCBI Gene)	CCP1CONDCANNA1
Chromosome	9
Chromosome location	9q21.33
Summary	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]

Show/Hide all (11)

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
rs1564035967	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, intron variant
rs1564041582	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1564046794	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1564069651	T>C	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1564069807	A>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1564071824	A>C	Pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant, 3 prime UTR variant

149

Show/Hide all (149)

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
MIRT662818	hsa-miR-6083	HITS-CLIP	23824327
MIRT645352	hsa-miR-8062	HITS-CLIP	23824327
MIRT645351	hsa-miR-1285-5p	HITS-CLIP	23824327
MIRT645350	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT645349	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT645348	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT645347	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT645346	hsa-miR-1281	HITS-CLIP	23824327
MIRT645345	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT495044	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT495043	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT645344	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT645343	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT645342	hsa-miR-1297	HITS-CLIP	23824327
MIRT645341	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT645340	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT645339	hsa-miR-4465	HITS-CLIP	23824327
MIRT637120	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT637118	hsa-miR-4699-3p	HITS-CLIP	23824327
MIRT637119	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT496739	hsa-miR-6507-5p	PAR-CLIP	22012620
MIRT496738	hsa-miR-6830-5p	PAR-CLIP	22012620
MIRT528153	hsa-miR-3690	PAR-CLIP	22012620
MIRT528152	hsa-miR-4254	PAR-CLIP	22012620
MIRT528151	hsa-miR-6128	PAR-CLIP	22012620
MIRT528150	hsa-miR-615-5p	PAR-CLIP	22012620
MIRT515909	hsa-miR-4728-3p	PAR-CLIP	23446348
MIRT515908	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT515907	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT515906	hsa-miR-6134	PAR-CLIP	23446348
MIRT515905	hsa-miR-3689d	PAR-CLIP	23446348
MIRT515904	hsa-miR-6851-5p	PAR-CLIP	23446348
MIRT515903	hsa-miR-4653-3p	PAR-CLIP	23446348
MIRT515902	hsa-miR-4529-5p	PAR-CLIP	23446348
MIRT515901	hsa-miR-6880-5p	PAR-CLIP	23446348
MIRT515900	hsa-miR-7847-3p	PAR-CLIP	23446348
MIRT515899	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT515898	hsa-miR-548s	PAR-CLIP	23446348
MIRT515896	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT515897	hsa-miR-588	PAR-CLIP	23446348
MIRT515895	hsa-miR-4435	PAR-CLIP	23446348
MIRT515894	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT515893	hsa-miR-5096	PAR-CLIP	23446348
MIRT496739	hsa-miR-6507-5p	PAR-CLIP	22291592
MIRT496738	hsa-miR-6830-5p	PAR-CLIP	22291592
MIRT495048	hsa-miR-99a-3p	PAR-CLIP	23708386
MIRT495047	hsa-miR-99b-3p	PAR-CLIP	23708386
MIRT495046	hsa-miR-150-5p	PAR-CLIP	23708386
MIRT495045	hsa-miR-6778-3p	PAR-CLIP	23708386
MIRT495044	hsa-miR-6791-3p	PAR-CLIP	23708386
MIRT495043	hsa-miR-6829-3p	PAR-CLIP	23708386
MIRT495042	hsa-miR-6836-3p	PAR-CLIP	23708386
MIRT441754	hsa-miR-548e-5p	PAR-CLIP	22100165
MIRT441753	hsa-miR-590-3p	PAR-CLIP	22100165
MIRT441751	hsa-miR-4735-5p	PAR-CLIP	22100165
MIRT441752	hsa-miR-4775	PAR-CLIP	22100165
MIRT441750	hsa-miR-576-5p	PAR-CLIP	22100165
MIRT441247	hsa-miR-493-5p	HITS-CLIP	24374217
MIRT441247	hsa-miR-493-5p	HITS-CLIP	24374217
MIRT645346	hsa-miR-1281	PAR-CLIP	27292025
MIRT645342	hsa-miR-1297	PAR-CLIP	27292025
MIRT645344	hsa-miR-23a-5p	PAR-CLIP	27292025
MIRT645343	hsa-miR-23b-5p	PAR-CLIP	27292025
MIRT645341	hsa-miR-26a-5p	PAR-CLIP	27292025
MIRT645340	hsa-miR-26b-5p	PAR-CLIP	27292025
MIRT645339	hsa-miR-4465	PAR-CLIP	27292025
MIRT645348	hsa-miR-4485-5p	PAR-CLIP	27292025
MIRT645350	hsa-miR-6513-3p	PAR-CLIP	27292025
MIRT645347	hsa-miR-660-3p	PAR-CLIP	27292025
MIRT495044	hsa-miR-6791-3p	PAR-CLIP	27292025
MIRT495043	hsa-miR-6829-3p	PAR-CLIP	27292025
MIRT645352	hsa-miR-8062	PAR-CLIP	27292025
MIRT637120	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT637118	hsa-miR-4699-3p	HITS-CLIP	23824327
MIRT637119	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT662818	hsa-miR-6083	HITS-CLIP	23824327
MIRT645352	hsa-miR-8062	HITS-CLIP	23824327
MIRT645351	hsa-miR-1285-5p	HITS-CLIP	23824327
MIRT645350	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT645349	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT645348	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT645347	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT645346	hsa-miR-1281	HITS-CLIP	23824327
MIRT645345	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT495044	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT495043	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT645344	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT645343	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT645342	hsa-miR-1297	HITS-CLIP	23824327
MIRT645341	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT645340	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT645339	hsa-miR-4465	HITS-CLIP	23824327
MIRT637120	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT637118	hsa-miR-4699-3p	HITS-CLIP	23824327
MIRT637119	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT496739	hsa-miR-6507-5p	PAR-CLIP	22012620
MIRT496738	hsa-miR-6830-5p	PAR-CLIP	22012620
MIRT528153	hsa-miR-3690	PAR-CLIP	22012620
MIRT528152	hsa-miR-4254	PAR-CLIP	22012620
MIRT528151	hsa-miR-6128	PAR-CLIP	22012620
MIRT528150	hsa-miR-615-5p	PAR-CLIP	22012620
MIRT515909	hsa-miR-4728-3p	PAR-CLIP	23446348
MIRT515908	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT515907	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT515906	hsa-miR-6134	PAR-CLIP	23446348
MIRT515905	hsa-miR-3689d	PAR-CLIP	23446348
MIRT515904	hsa-miR-6851-5p	PAR-CLIP	23446348
MIRT515903	hsa-miR-4653-3p	PAR-CLIP	23446348
MIRT515902	hsa-miR-4529-5p	PAR-CLIP	23446348
MIRT515901	hsa-miR-6880-5p	PAR-CLIP	23446348
MIRT515900	hsa-miR-7847-3p	PAR-CLIP	23446348
MIRT515899	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT515898	hsa-miR-548s	PAR-CLIP	23446348
MIRT515896	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT515897	hsa-miR-588	PAR-CLIP	23446348
MIRT515895	hsa-miR-4435	PAR-CLIP	23446348
MIRT515894	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT515893	hsa-miR-5096	PAR-CLIP	23446348
MIRT496739	hsa-miR-6507-5p	PAR-CLIP	22291592
MIRT496738	hsa-miR-6830-5p	PAR-CLIP	22291592
MIRT495048	hsa-miR-99a-3p	PAR-CLIP	23708386
MIRT495047	hsa-miR-99b-3p	PAR-CLIP	23708386
MIRT495046	hsa-miR-150-5p	PAR-CLIP	23708386
MIRT495045	hsa-miR-6778-3p	PAR-CLIP	23708386
MIRT495044	hsa-miR-6791-3p	PAR-CLIP	23708386
MIRT495043	hsa-miR-6829-3p	PAR-CLIP	23708386
MIRT495042	hsa-miR-6836-3p	PAR-CLIP	23708386
MIRT441754	hsa-miR-548e-5p	PAR-CLIP	22100165
MIRT441753	hsa-miR-590-3p	PAR-CLIP	22100165
MIRT441751	hsa-miR-4735-5p	PAR-CLIP	22100165
MIRT441752	hsa-miR-4775	PAR-CLIP	22100165
MIRT441750	hsa-miR-576-5p	PAR-CLIP	22100165
MIRT773116	hsa-miR-323b-3p	CLIP-seq
MIRT773117	hsa-miR-374c	CLIP-seq
MIRT773118	hsa-miR-4328	CLIP-seq
MIRT773119	hsa-miR-582-5p	CLIP-seq
MIRT773120	hsa-miR-605	CLIP-seq
MIRT773121	hsa-miR-655	CLIP-seq
MIRT1928222	hsa-miR-3185	CLIP-seq
MIRT2168953	hsa-miR-4436b-5p	CLIP-seq
MIRT2168954	hsa-miR-4539	CLIP-seq
MIRT2168955	hsa-miR-4698	CLIP-seq
MIRT2168956	hsa-miR-4778-5p	CLIP-seq
MIRT2168957	hsa-miR-603	CLIP-seq

Show/Hide all (57)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001754	Process	Eye photoreceptor cell differentiation	IEA
GO:0001754	Process	Eye photoreceptor cell differentiation	ISS
GO:0004180	Function	Carboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	IBA
GO:0004181	Function	Metallocarboxypeptidase activity	IDA	22170066
GO:0004181	Function	Metallocarboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	ISS
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23085998
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23085998
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IDA
GO:0006508	Process	Proteolysis	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007005	Process	Mitochondrion organization	ISS
GO:0007628	Process	Adult walking behavior	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0015630	Component	Microtubule cytoskeleton	IBA
GO:0015631	Function	Tubulin binding	IBA
GO:0015631	Function	Tubulin binding	IEA
GO:0015631	Function	Tubulin binding	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021680	Process	Cerebellar Purkinje cell layer development	IEA
GO:0021702	Process	Cerebellar Purkinje cell differentiation	IEA
GO:0021702	Process	Cerebellar Purkinje cell differentiation	ISS
GO:0021772	Process	Olfactory bulb development	IEA
GO:0021772	Process	Olfactory bulb development	ISS
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0030424	Component	Axon	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0035608	Process	Protein deglutamylation	IMP	30420557
GO:0035609	Process	C-terminal protein deglutamylation	IDA	22170066
GO:0035609	Process	C-terminal protein deglutamylation	ISS
GO:0035610	Process	Protein side chain deglutamylation	IDA	22170066
GO:0035610	Process	Protein side chain deglutamylation	ISS
GO:0036064	Component	Ciliary basal body	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0050905	Process	Neuromuscular process	ISS
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0098930	Process	Axonal transport	IEA
GO:0098957	Process	Anterograde axonal transport of mitochondrion	IEA
GO:0098958	Process	Retrograde axonal transport of mitochondrion	IEA
GO:1904115	Component	Axon cytoplasm	IEA
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IEA

MIM	HGNC	e!Ensembl
606830	17258	ENSG00000135049

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
VCYFAYHYPYTYSTLQMHLQKLESAHNPQQIYFRKDVLCETLSGNSCPLVTITAMPESNY
YEHICHFRNRPYVFLSARVHPGETNASWVMKGTLEYLMSNNPTAQSLRESYIFKIVPMLN
PDGVINGNHRCSLSGEDLNRQWQSPSPDLHPTIYHAKGLLQYLAAVKRLPLVYCDYHGHS
RKKNVFMYGCSIKETVWHTNDNATSCDVVEDTGYRTLPKILSHIAPAFCMSSCSFVVEKS
KESTARVVVWREIGVQRSYTMESTLCGCDQGKYKGLQIGTRELEEMGAKFCVGLLRLKRL
TSPLEYNLPSSLLDFENDLIESSCKVTSPTTYVLDEDEPRFLEEVDYSAESNDELDIELA
ENVGDYEPSAQEEVLSDSELSRTYLP

Sequence length

1226

Interactions

View interactions

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AGTPBP1-related disorder	Pathogenic	rs780631499, rs1554699491	RCV000625987 RCV000625986
Aplasia/Hypoplasia of the cerebellum	Likely pathogenic; Pathogenic	rs1564069807, rs1564069651, rs943824159	RCV000767880 RCV000767881 RCV000786855
Global developmental delay	Likely pathogenic; Pathogenic	rs1564069807, rs1564069651, rs943824159	RCV000767880 RCV000767881 RCV000786855
Motor polyneuropathy	Likely pathogenic	rs1564069807	RCV000767880
Neurodegeneration, childhood-onset, with cerebellar atrophy	Likely pathogenic; Pathogenic	rs747285262, rs1829045299, rs1287669340, rs2537710137, rs2538292726, rs2537992540, rs780631499, rs1554699491, rs1564041582, rs760300826, rs1564034077, rs1564046794, rs1564071824, rs779664281, rs1183456608, rs1833598892 View all (1 more)	RCV001330541 RCV001785898 RCV003145835 RCV003154310 RCV003324719 RCV003493222 RCV000735995 RCV000735994 RCV000735996 RCV000735997 RCV000735998 RCV000735999 RCV000736001 RCV001263150 RCV001263149 RCV001265647
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	Likely pathogenic	rs1564046794	RCV001254700

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs144890878	RCV005933613
Cervical cancer	Benign	rs144890878	RCV005933615
Clear cell carcinoma of kidney	Benign	rs144890878	RCV005933616
Colorectal cancer	Benign	rs144890878	RCV005933617
Hepatocellular carcinoma	Benign	rs144890878	RCV005933614
Ovarian serous cystadenocarcinoma	Benign	rs144890878	RCV005933618
Thymoma	Benign	rs144890878	RCV005933619

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

AGTPBP1 (ATP/GTP binding carboxypeptidase 1)