Seroatlas · Human Serome Atlas

AGTPBP1

Cytosolic carboxypeptidase 1

Also known as: CBPC1_HUMAN, CCP1, KIAA1035, Nna1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9UPW5
Gene: AGTPBP1
Ensembl: ENSG00000135049
Chromosome: 9
Canonical length: 1226 aa
Protein class: Disease related genes, Enzymes, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Plasma membrane,Primary cilium,Centriolar satellite,Basal body

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1226 residues, UniProt reviewed canonical sequence.

>Q9UPW5|AGTPBP1
     1  MSKLKVIPEK SLTNNSRIVG LLAQLEKINA EPSESDTARY VTSKILHLAQ SQEKTRREMT
    61  AKGSTGMEIL LSTLENTKDL QTTLNILSIL VELVSAGGGR RVSFLVTKGG SQILLQLLMN
   121  ASKESPPHED LMVQIHSILA KIGPKDKKFG VKARINGALN ITLNLVKQNL QNHRLVLPCL
   181  QLLRVYSANS VNSVSLGKNG VVELMFKIIG PFSKKNSSLI KVALDTLAAL LKSKTNARRA
   241  VDRGYVQVLL TIYVDWHRHD NRHRNMLIRK GILQSLKSVT NIKLGRKAFI DANGMKILYN
   301  TSQECLAVRT LDPLVNTSSL IMRKCFPKNR LPLPTIKSSF HFQLPVIPVT GPVAQLYSLP
   361  PEVDDVVDES DDNDDIDVEA ENETENEDDL DQNFKNDDIE TDINKLKPQQ EPGRTIEDLK
   421  MYEHLFPELV DDFQDYDLIS KEPKPFVFEG KVRGPIVVPT AGEETSGNSG NLRKVVMKEN
   481  ISSKGDEGEK KSTFMDLAKE DIKDNDRTLQ QQPGDQNRTI SSVHGLNNDI VKALDRITLQ
   541  NIPSQTAPGF TAEMKKDCSL PLTVLTCAKA CPHMATCGNV LFEGRTVQLG KLCCTGVETE
   601  DDEDTESNSS VEQASVEVPD GPTLHDPDLY IEIVKNTKSV PEYSEVAYPD YFGHIPPPFK
   661  EPILERPYGV QRTKIAQDIE RLIHQSDIID RVVYDLDNPN YTIPEEGDIL KFNSKFESGN
   721  LRKVIQIRKN EYDLILNSDI NSNHYHQWFY FEVSGMRPGV AYRFNIINCE KSNSQFNYGM
   781  QPLMYSVQEA LNARPWWIRM GTDICYYKNH FSRSSVAAGG QKGKSYYTIT FTVNFPHKDD
   841  VCYFAYHYPY TYSTLQMHLQ KLESAHNPQQ IYFRKDVLCE TLSGNSCPLV TITAMPESNY
   901  YEHICHFRNR PYVFLSARVH PGETNASWVM KGTLEYLMSN NPTAQSLRES YIFKIVPMLN
   961  PDGVINGNHR CSLSGEDLNR QWQSPSPDLH PTIYHAKGLL QYLAAVKRLP LVYCDYHGHS
  1021  RKKNVFMYGC SIKETVWHTN DNATSCDVVE DTGYRTLPKI LSHIAPAFCM SSCSFVVEKS
  1081  KESTARVVVW REIGVQRSYT MESTLCGCDQ GKYKGLQIGT RELEEMGAKF CVGLLRLKRL
  1141  TSPLEYNLPS SLLDFENDLI ESSCKVTSPT TYVLDEDEPR FLEEVDYSAE SNDELDIELA
  1201  ENVGDYEPSA QEEVLSDSEL SRTYLP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AGTPBP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.33
Highest tissue expression: 57 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 57 nTPM
retina: 43 nTPM
spinal cord: 27 nTPM
cerebral cortex: 20 nTPM
midbrain: 19 nTPM
tongue: 19 nTPM

Single-cell type

neutrophils: 3,053 nCPM
neutrophil progenitors: 1,491 nCPM
cone photoreceptor cells: 677 nCPM
oligodendrocytes: 545 nCPM
monocyte progenitors: 524 nCPM
monocytes: 518 nCPM

Immune cell

basophil: 38 nTPM
neutrophil: 21 nTPM
myeloid DC: 16 nTPM
classical monocyte: 14 nTPM
eosinophil: 13 nTPM
total PBMC: 9.5 nTPM

Brain region

white matter: 177 nTPM
basal ganglia: 117 nTPM
cerebral cortex: 104 nTPM
thalamus: 102 nTPM
spinal cord: 96 nTPM
amygdala: 92 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AGTPBP1.

Disease | AllUniProt

Conditions AGTPBP1 is implicated in, by any mechanism.

Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) MIM:618276

Disease | GeneticClinVar

24 pathogenic / likely-pathogenic of 199 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodegeneration, childhood-onset, with cerebellar atrophy
Global developmental delay
Aplasia/Hypoplasia of the cerebellum
AGTPBP1-related disorder
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.35
gnomAD pLI: 0.42
gnomAD missense Z: 2.01
DepMap mean gene effect: 0.04
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AGTPBP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

MYLK

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AGTPBP1 as an antibody target. Whether an autoantibody or antibody against AGTPBP1 could matter depends on whether native AGTPBP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AGTPBP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label AGTPBP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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