Seroatlas · Human Serome Atlas

CEP164

Centrosomal protein of 164 kDa

Also known as: CE164_HUMAN, KIAA1052, NPHP15

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

Protein identityUniProt · HPA

UniProt accession: Q9UPV0
Gene: CEP164
Ensembl: ENSG00000110274
Chromosome: 11
Canonical length: 1460 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Vesicles,Primary cilium transition zone,Centrosome,Equatorial segment,Principal piece

OverviewNCBI Gene

This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Canonical amino-acid sequenceUniProt

1460 residues, UniProt reviewed canonical sequence.

>Q9UPV0|CEP164
     1  MAGRPLRIGD QLVLEEDYDE TYIPSEQEIL EFAREIGIDP IKEPELMWLA REGIVAPLPG
    61  EWKPCQDITG DIYYFNFANG QSMWDHPCDE HYRSLVIQER AKLSTSGAIK KKKKKKEKKD
   121  KKDRDPPKSS LALGSSLAPV HVPLGGLAPL RGLVDTPPSA LRGSQSVSLG SSVESGRQLG
   181  ELMLPSQGLK TSAYTKGLLG SIYEDKTALS LLGLGEETNE EDEEESDNQS VHSSSEPLRN
   241  LHLDIGALGG DFEYEESLRT SQPEEKKDVS LDSDAAGPPT PCKPSSPGAD SSLSSAVGKG
   301  RQGSGARPGL PEKEENEKSE PKICRNLVTP KADPTGSEPA KASEKEAPED TVDAGEEGSR
   361  REEAAKEPKK KASALEEGSS DASQELEISE HMKEPQLSDS IASDPKSFHG LDFGFRSRIS
   421  EHLLDVDVLS PVLGGACRQA QQPLGIEDKD DSQSSQDELQ SKQSKGLEER LSPPLPHEER
   481  AQSPPRSLAT EEEPPQGPEG QPEWKEAEEL GEDSAASLSL QLSLQREQAP SPPAACEKGK
   541  EQHSQAEELG PGQEEAEDPE EKVAVSPTPP VSPEVRSTEP VAPPEQLSEA ALKAMEEAVA
   601  QVLEQDQRHL LESKQEKMQQ LREKLCQEEE EEILRLHQQK EQSLSSLRER LQKAIEEEEA
   661  RMREEESQRL SWLRAQVQSS TQADEDQIRA EQEASLQKLR EELESQQKAE RASLEQKNRQ
   721  MLEQLKEEIE ASEKSEQAAL NAAKEKALQQ LREQLEGERK EAVATLEKEH SAELERLCSS
   781  LEAKHREVVS SLQKKIQEAQ QKEEAQLQKC LGQVEHRVHQ KSYHVAGYEH ELSSLLREKR
   841  QEVEGEHERR LDKMKEEHQQ VMAKAREQYE AEERKQRAEL LGHLTGELER LQRAHERELE
   901  TVRQEQHKRL EDLRRRHREQ ERKLQDLELD LETRAKDVKA RLALLEVQEE TARREKQQLL
   961  DVQRQVALKS EEATATHQQL EEAQKEHTHL LQSNQQLREI LDELQARKLK LESQVDLLQA
  1021  QSQQLQKHFS SLEAEAQKKQ HLLREVTVEE NNASPHFEPD LHIEDLRKSL GTNQTKEVSS
  1081  SLSQSKEDLY LDSLSSHNVW HLLSAEGVAL RSAKEFLVQQ TRSMRRRQTA LKAAQQHWRH
  1141  ELASAQEVAK DPPGIKALED MRKNLEKETR HLDEMKSAMR KGHNLLKKKE EKLNQLESSL
  1201  WEEASDEGTL GGSPTKKAVT FDLSDMDSLS SESSESFSPP HREWWRQQRI DSTPSLTSRK
  1261  IHGLSHSLRQ ISSQLSSVLS ILDSLNPQSP PPLLASMPAQ LPPRDPKSTP TPTYYGSLAR
  1321  FSALSSATPT STQWAWDSGQ GPRLPSSVAQ TVDDFLLEKW RKYFPSGIPL LSNSPTPLES
  1381  RLGYMSASEQ LRLLQHSHSQ VPEAGSTTFQ GIIEANRRWL ERVKNDPRLP LFSSTPKPKA
  1441  TLSLLQLGLD EHNRVKVYRF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CEP164 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): 0.57
Highest tissue expression: 25 nTPM

Expression across tissuesHPA

Tissue

pancreas: 25 nTPM
retina: 24 nTPM
testis: 22 nTPM
cerebellum: 14 nTPM
fallopian tube: 11 nTPM
ovary: 11 nTPM

Single-cell type

cone photoreceptor cells: 623 nCPM
late spermatids: 441 nCPM
rod photoreceptor cells: 373 nCPM
early spermatids: 343 nCPM
retinal bipolar cells: 175 nCPM
gonadotrophs: 147 nCPM

Immune cell

basophil: 97 nTPM
neutrophil: 83 nTPM
T-reg: 53 nTPM
plasmacytoid DC: 50 nTPM
memory CD4 T-cell: 44 nTPM
non-classical monocyte: 42 nTPM

Brain region

white matter: 42 nTPM
choroid plexus: 38 nTPM
cerebellum: 36 nTPM
thalamus: 33 nTPM
cerebral cortex: 32 nTPM
medulla oblongata: 31 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CEP164.

Disease | AllUniProt

Conditions CEP164 is implicated in, by any mechanism.

Nephronophthisis 15 (NPHP15) MIM:614845

Disease | GeneticClinVar

135 pathogenic / likely-pathogenic of 1,603 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Nephronophthisis 15
CEP164-related disorder
Retinal dystrophy
Fetal anomalies with a likely genetic cause
Renal dysplasia and retinal aplasia

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): 0.84
gnomAD pLI: 0
gnomAD missense Z: 0.35
DepMap mean gene effect: 0.08
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CEP164 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CEP164 as an antibody target. Whether an autoantibody or antibody against CEP164 could matter depends on whether native CEP164 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CEP164 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 CEP164 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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