PRR12

Protein identityUniProt · HPA

UniProt accession

Q9ULL5

Gene

PRR12

Ensembl

ENSG00000126464

Chromosome

19

Canonical length

2036 aa

Protein class

Disease related genes, Predicted intracellular proteins

Subcellular location

Cytosol

OverviewNCBI Gene

This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

2036 residues, UniProt reviewed canonical sequence.

>Q9ULL5|PRR12
     1  MDRNYPSAGF GDPLGAGAGW SYERSAKASL VYGSSRTSHP ETDILHRQAY AAPHPLQSYA
    61  TNHHPAGLSG LFDTGLHHAG SAGPDASVMN LISALESRGP QPGPSASSLL SQFRSPSWQT
   121  AMHTPGPTEL FISGALPGSS TFPSSSALSA YQHPASFGSR PFPVPSSLSL QDPPFSPPAN
   181  GLLSPHDVLH LKPSQAPTVP SSLGFERLAG GGVLGPAGLG PAQTPPYRPG PPDPPPPPRH
   241  LPTQFNLLAS SSAAAAAAEQ SSPQLYNFSG AAPGPPPPER ALPRQDTVIK HYQRPASAQP
   301  PPPPPPAHAL QHYLSCGGSY PSMGHRANLA CSPLGGGEPS PGAGEPSKAG PSGATAGASG
   361  RATGPEAAGG GGAGGGGGGY RPIIQSPGYK TGKGGYGAAA GGATRPPPPR STATPKCQSL
   421  GGPAAAYATG KASGAGGAGG QAYSPGQPQG LLGPQAYGQG FGGGQAQDLS KAPSYSGGPP
   481  QPPSGPPPPG LATCQSYSPD QLQGQLYGVQ GEPYPGPAAH SQGLPTASPS LSYSTGHSPA
   541  LSGHGGGWGP SSLGGGGEAS PSHIIRPLQS PPATGRPPGV GSPGAPGKYL SSVLASAPFL
   601  APPGAGSYAA GAGGYKGKGD GSELLAGPGG PPAERTEDEE FLIQHLLQAP SPPRTSGADG
   661  LVGEDGAADA SKGLGGSGGA GGPPGTPYEL AKEDPQRYHL QSVIRTSASL DEGATAALEL
   721  GLGRLKEKKK GPERGGETPE GLATSVVHYG AGAKELGAFL QKSPPPPPPT AQSTQPTPHG
   781  LLLEAGGPDL PLVLPPPPPQ LLPSVLSHAP SPSPSASKVG VHLLEPATRD GAPQPPPPPP
   841  PPPPPMPLQL EAHLRSHGLE PAAPSPRLRP EESLDPPGAM QELLGALEPL PPAPGDTGVG
   901  PPNSEGKDPA GAYRSPSPQG TKAPRFVPLT SICFPDSLLQ DEERSFFPTM EEMFGGGAAD
   961  DYGKAGPPED EGDPKAGAGP PPGPPAYDPY GPYCPGRASG AGPETPGLGL DPNKPPELPS
  1021  TVNAEPLGLI QSGPHQAAPP PPPPPPPPPA PASEPKGGLT SPIFCSTKPK KLLKTSSFHL
  1081  LRRRDPPFQT PKKLYAQEYE FEADEDKADV PADIRLNPRR LPDLVSSCRS RPALSPLGDI
  1141  DFCPPNPGPD GPRRRGRKPT KAKRDGPPRP RGRPRIRPLE VPTTAGPASA STPTDGAKKP
  1201  RGRGRGRGRK AEEAGGTRLE PLKPLKIKLS VPKAGEGLGT SSGDAISGTD HNSLDSSLTR
  1261  EKIEAKIKEV EEKQPEMKSG FMASFLDFLK SGKRHPPLYQ AGLTPPLSPP KSVPPSVPAR
  1321  GLQPQPPATP AVPHPPPSGA FGLGGALEAA ESEGLGLGCP SPCKRLDEEL KRNLETLPSF
  1381  SSDEEDSVAK NRDLQESISS AISALDDPPL AGPKDTSTPD GPPLAPAAAV PGPPPLPGLP
  1441  SANSNGTPEP PLLEEKPPPT PPPAPTPQPQ PPPPPPPPQP ALPSPPPLVA PTPSSPPPPP
  1501  LPPPPPPAMP SPPPPPPPAA APLAAPPEEP AAPSPEDPEL PDTRPLHLAK KQETAAVCGE
  1561  TDEEAGESGG EGIFRERDEF VIRAEDIPSL KLALQTGREP PPIWRVQKAL LQKFTPEIKD
  1621  GQRQFCATSN YLGYFGDAKN RYQRLYVKFL ENVNKKDYVR VCARKPWHRP PVPVRRSGQA
  1681  KNPVSAGGSS APPPKAPAPP PKPETPEKTT SEKPPEQTPE TAMPEPPAPE KPSLLRPVEK
  1741  EKEKEKVTRG ERPLRGERAT SGRQTRPERS LATGQPATSR LPKARPTKVK AEPPPKKRKK
  1801  WLKEAGGNAT AGGGPPGSSS DSESSPGAPS EDERAVPGRL LKTRAMREMY RSYVEMLVST
  1861  ALDPDMIQAL EDTHDELYLP PMRKIDGLLN EHKKKVLKRL SLSPALQDAL HTFPQLQVEQ
  1921  SGEGSPEEGA VRLRPAGEPY NRKTLSKLKR SVVRAQEFKV ELEKSGYYTL YHSLHHYKYH
  1981  TFLRCRDQTL AIEGGAEDLG QEEVVQQCMR NQPWLEQLFD SFSDLLAQAQ AHSRCG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRR12 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)

0.63

Highest tissue expression

23 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRR12.

Disease | AllUniProt

Conditions PRR12 is implicated in, by any mechanism.

• Neuroocular syndrome 1 (NOC1) MIM:619539

Disease | GeneticClinVar

77 pathogenic / likely-pathogenic of 770 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neuroocular syndrome 1
• Neuroocular syndrome
• Inborn genetic diseases
• complex microphthalmia
• Delayed speech and language development

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)

0.05

gnomAD pLI

1

gnomAD missense Z

2.98

DepMap mean gene effect

-0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• intracellular protein localization

Cellular components

• neuron projection
• nucleus
• postsynaptic density

Protein domainsUniProt · Pfam · InterPro

• Domain of unknown function DUF4211
• DNA Methylation Protection Complex
• Domain of unknown function (DUF4211)

KeywordsUniProt

• Acetylation
• Intellectual disability
• Nucleus
• Phosphoprotein
• Synapse
• Synaptosome

InteractionsUniProt · HPA

Protein binding partners of PRR12 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NIPBL
• MAU2