RP9_HUMAN
ID RP9_HUMAN Reviewed; 221 AA.
AC Q8TA86;
DT 14-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT 14-NOV-2003, sequence version 2.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=Retinitis pigmentosa 9 protein;
DE AltName: Full=Pim-1-associated protein;
DE Short=PAP-1;
GN Name=RP9;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Bruck C.E., Coche T., Cassart J.-P., Vinals-Bassols C.;
RT "Compounds related to PAP-1.";
RL Patent number WO9949030, 30-SEP-1999.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Muscle;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP INTERACTION WITH ZNHIT4.
RX PubMed=15556297; DOI=10.1016/j.gene.2004.05.025;
RA Kuroda T.S., Maita H., Tabata T., Taira T., Kitaura H., Ariga H.,
RA Iguchi-Ariga S.M.M.;
RT "A novel nucleolar protein, PAPA-1, induces growth arrest as a result of
RT cell cycle arrest at the G1 phase.";
RL Gene 340:83-98(2004).
RN [4]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-129, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
RN [5]
RP VARIANTS RP9 LEU-137 AND GLY-170, AND VARIANT ARG-210.
RX PubMed=12032732; DOI=10.1038/sj.ejhg.5200797;
RA Keen T.J., Hims M.M., McKie A.B., Moore A.T., Doran R.M., Mackey D.A.,
RA Mansfield D.C., Mueller R.F., Bhattacharya S.S., Bird A.C., Markham A.F.,
RA Inglehearn C.F.;
RT "Mutations in a protein target of the Pim-1 kinase associated with the RP9
RT form of autosomal dominant retinitis pigmentosa.";
RL Eur. J. Hum. Genet. 10:245-249(2002).
CC -!- FUNCTION: Is thought to be a target protein for the PIM1 kinase. May
CC play some roles in B-cell proliferation in association with PIM1 (By
CC similarity). {ECO:0000250}.
CC -!- SUBUNIT: Binds to PIM1 (By similarity). Binds to ZNHIT4. {ECO:0000250}.
CC -!- INTERACTION:
CC Q8TA86; Q9BXS5: AP1M1; NbExp=3; IntAct=EBI-630339, EBI-541426;
CC Q8TA86; Q13895: BYSL; NbExp=3; IntAct=EBI-630339, EBI-358049;
CC Q8TA86; P61328-2: FGF12; NbExp=3; IntAct=EBI-630339, EBI-10699759;
CC Q8TA86; Q9BU76: MMTAG2; NbExp=3; IntAct=EBI-630339, EBI-742459;
CC Q8TA86; Q6ZUT1: NKAPD1; NbExp=3; IntAct=EBI-630339, EBI-3920396;
CC Q8TA86; O00560: SDCBP; NbExp=5; IntAct=EBI-630339, EBI-727004;
CC Q8TA86; Q8N9Q2: SREK1IP1; NbExp=3; IntAct=EBI-630339, EBI-10268630;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Appears to be expressed in a wide range of tissues.
CC -!- DISEASE: Retinitis pigmentosa 9 (RP9) [MIM:180104]: A retinal dystrophy
CC belonging to the group of pigmentary retinopathies. Retinitis
CC pigmentosa is characterized by retinal pigment deposits visible on
CC fundus examination and primary loss of rod photoreceptor cells followed
CC by secondary loss of cone photoreceptors. Patients typically have night
CC vision blindness and loss of midperipheral visual field. As their
CC condition progresses, they lose their far peripheral visual field and
CC eventually central vision as well. {ECO:0000269|PubMed:12032732}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
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DR EMBL; AX016710; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC025928; AAH25928.2; -; mRNA.
DR CCDS; CCDS5440.1; -.
DR RefSeq; NP_976033.1; NM_203288.1.
DR AlphaFoldDB; Q8TA86; -.
DR BioGRID; 112027; 82.
DR IntAct; Q8TA86; 19.
DR MINT; Q8TA86; -.
DR STRING; 9606.ENSP00000297157; -.
DR iPTMnet; Q8TA86; -.
DR PhosphoSitePlus; Q8TA86; -.
DR BioMuta; RP9; -.
DR DMDM; 38372427; -.
DR EPD; Q8TA86; -.
DR jPOST; Q8TA86; -.
DR MassIVE; Q8TA86; -.
DR MaxQB; Q8TA86; -.
DR PaxDb; Q8TA86; -.
DR PeptideAtlas; Q8TA86; -.
DR PRIDE; Q8TA86; -.
DR ProteomicsDB; 73839; -.
DR Antibodypedia; 26407; 48 antibodies from 17 providers.
DR DNASU; 6100; -.
DR Ensembl; ENST00000297157.8; ENSP00000297157.3; ENSG00000164610.10.
DR GeneID; 6100; -.
DR KEGG; hsa:6100; -.
DR MANE-Select; ENST00000297157.8; ENSP00000297157.3; NM_203288.2; NP_976033.1.
DR UCSC; uc003tdm.4; human.
DR CTD; 6100; -.
DR DisGeNET; 6100; -.
DR GeneCards; RP9; -.
DR GeneReviews; RP9; -.
DR HGNC; HGNC:10288; RP9.
DR HPA; ENSG00000164610; Low tissue specificity.
DR MalaCards; RP9; -.
DR MIM; 180104; phenotype.
DR MIM; 607331; gene.
DR neXtProt; NX_Q8TA86; -.
DR OpenTargets; ENSG00000164610; -.
DR Orphanet; 791; Retinitis pigmentosa.
DR PharmGKB; PA34650; -.
DR VEuPathDB; HostDB:ENSG00000164610; -.
DR eggNOG; KOG3794; Eukaryota.
DR GeneTree; ENSGT00940000162896; -.
DR InParanoid; Q8TA86; -.
DR OMA; PGYIKEH; -.
DR OrthoDB; 1479659at2759; -.
DR PhylomeDB; Q8TA86; -.
DR TreeFam; TF329160; -.
DR PathwayCommons; Q8TA86; -.
DR SignaLink; Q8TA86; -.
DR SIGNOR; Q8TA86; -.
DR BioGRID-ORCS; 6100; 14 hits in 1083 CRISPR screens.
DR ChiTaRS; RP9; human.
DR GeneWiki; RP9; -.
DR GenomeRNAi; 6100; -.
DR Pharos; Q8TA86; Tbio.
DR PRO; PR:Q8TA86; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8TA86; protein.
DR Bgee; ENSG00000164610; Expressed in oocyte and 183 other tissues.
DR ExpressionAtlas; Q8TA86; baseline and differential.
DR Genevisible; Q8TA86; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0005785; C:signal recognition particle receptor complex; IEA:Ensembl.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0050890; P:cognition; IMP:UniProtKB.
DR GO; GO:0008380; P:RNA splicing; TAS:UniProtKB.
DR InterPro; IPR034585; PAP-1.
DR PANTHER; PTHR35252; PTHR35252; 1.
PE 1: Evidence at protein level;
KW Disease variant; Isopeptide bond; Metal-binding; Nucleus; Phosphoprotein;
KW Reference proteome; Retinitis pigmentosa; Ubl conjugation; Zinc;
KW Zinc-finger.
FT CHAIN 1..221
FT /note="Retinitis pigmentosa 9 protein"
FT /id="PRO_0000097428"
FT ZN_FING 104..122
FT /note="CCHC-type"
FT REGION 1..155
FT /note="PIM1-binding"
FT /evidence="ECO:0000250"
FT REGION 1..76
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 147..221
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 10..43
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 56..76
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 147..182
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 183..211
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 212
FT /note="Phosphoserine; by PIM1"
FT /evidence="ECO:0000250|UniProtKB:P97762"
FT MOD_RES 214
FT /note="Phosphoserine; by PIM1"
FT /evidence="ECO:0000250|UniProtKB:P97762"
FT CROSSLNK 129
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VARIANT 137
FT /note="H -> L (in RP9; dbSNP:rs104894037)"
FT /evidence="ECO:0000269|PubMed:12032732"
FT /id="VAR_017252"
FT VARIANT 170
FT /note="D -> G (in RP9; dbSNP:rs104894039)"
FT /evidence="ECO:0000269|PubMed:12032732"
FT /id="VAR_017253"
FT VARIANT 210
FT /note="K -> R (in dbSNP:rs150987618)"
FT /evidence="ECO:0000269|PubMed:12032732"
FT /id="VAR_017254"
SQ SEQUENCE 221 AA; 26107 MW; 63774BDB40A63E4F CRC64;
MSSRPGREDV GAAGARRPRE PPEQELQRRR EQKRRRHDAQ QLQQLKHLES FYEKPPPGLI
KEDETKPEDC IPDVPGNEHA REFLAHAPTK GLWMPLGKEV KVMQCWRCKR YGHRTGDKEC
PFFIKGNQKL EQFRVAHEDP MYDIIRDNKR HEKDVRIQQL KQLLEDSTSD EDRSSSSSSE
GKEKHKKKKK KEKHKKRKKE KKKKKKRKHK SSKSNEGSDS E
