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Q8TA86 (RP9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Retinitis pigmentosa 9 protein
Alternative name(s):
Pim-1-associated protein
Short name=PAP-1
Gene names
Name:RP9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length221 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Is thought to be a target protein for the PIM1 kinase. May play some roles in B-cell proliferation in association with PIM1 By similarity.

Subunit structure

Binds to PIM1 By similarity. Binds to ZNHIT4. Ref.3

Subcellular location

Nucleus By similarity.

Tissue specificity

Appears to be expressed in a wide range of tissues.

Involvement in disease

Retinitis pigmentosa 9 (RP9) [MIM:180104]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Contains 1 CCHC-type zinc finger.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 221221Retinitis pigmentosa 9 protein
PRO_0000097428

Regions

Zinc finger104 – 12219CCHC-type
Region1 – 155155PIM1-binding By similarity
Compositional bias174 – 1796Poly-Ser
Compositional bias182 – 21332Lys-rich

Amino acid modifications

Modified residue2121Phosphoserine; by PIM1 By similarity
Modified residue2141Phosphoserine; by PIM1 By similarity

Natural variations

Natural variant1371H → L in RP9. Ref.4
VAR_017252
Natural variant1701D → G in RP9. Ref.4
VAR_017253
Natural variant2101K → R. Ref.4
Corresponds to variant rs150987618 [ dbSNP | Ensembl ].
VAR_017254

Sequences

Sequence LengthMass (Da)Tools
Q8TA86 [UniParc].

Last modified November 14, 2003. Version 2.
Checksum: 63774BDB40A63E4F

FASTA22126,107
        10         20         30         40         50         60 
MSSRPGREDV GAAGARRPRE PPEQELQRRR EQKRRRHDAQ QLQQLKHLES FYEKPPPGLI 

        70         80         90        100        110        120 
KEDETKPEDC IPDVPGNEHA REFLAHAPTK GLWMPLGKEV KVMQCWRCKR YGHRTGDKEC 

       130        140        150        160        170        180 
PFFIKGNQKL EQFRVAHEDP MYDIIRDNKR HEKDVRIQQL KQLLEDSTSD EDRSSSSSSE 

       190        200        210        220 
GKEKHKKKKK KEKHKKRKKE KKKKKKRKHK SSKSNEGSDS E 

« Hide

References

« Hide 'large scale' references
[1]"Compounds related to PAP-1."
Bruck C.E., Coche T., Cassart J.-P., Vinals-Bassols C.
Patent number WO9949030, 30-SEP-1999
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Muscle.
[3]"A novel nucleolar protein, PAPA-1, induces growth arrest as a result of cell cycle arrest at the G1 phase."
Kuroda T.S., Maita H., Tabata T., Taira T., Kitaura H., Ariga H., Iguchi-Ariga S.M.M.
Gene 340:83-98(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH ZNHIT4.
[4]"Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa."
Keen T.J., Hims M.M., McKie A.B., Moore A.T., Doran R.M., Mackey D.A., Mansfield D.C., Mueller R.F., Bhattacharya S.S., Bird A.C., Markham A.F., Inglehearn C.F.
Eur. J. Hum. Genet. 10:245-249(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS RP9 LEU-137 AND GLY-170, VARIANT ARG-210.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AX016710 mRNA. No translation available.
BC025928 mRNA. Translation: AAH25928.2.
CCDSCCDS5440.1.
RefSeqNP_976033.1. NM_203288.1.
UniGeneHs.326805.

3D structure databases

ProteinModelPortalQ8TA86.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112027. 4 interactions.
IntActQ8TA86. 1 interaction.
STRING9606.ENSP00000297157.

PTM databases

PhosphoSiteQ8TA86.

Polymorphism databases

DMDM38372427.

Proteomic databases

MaxQBQ8TA86.
PaxDbQ8TA86.
PRIDEQ8TA86.

Protocols and materials databases

DNASU6100.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000297157; ENSP00000297157; ENSG00000164610.
GeneID6100.
KEGGhsa:6100.
UCSCuc003tdm.3. human.

Organism-specific databases

CTD6100.
GeneCardsGC07M033100.
GeneReviewsRP9.
HGNCHGNC:10288. RP9.
HPAHPA031523.
MIM180104. phenotype.
607331. gene.
neXtProtNX_Q8TA86.
Orphanet791. Retinitis pigmentosa.
PharmGKBPA34650.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG283926.
HOGENOMHOG000132948.
HOVERGENHBG047374.
InParanoidQ8TA86.
OrthoDBEOG72C52F.
PhylomeDBQ8TA86.
TreeFamTF329160.

Gene expression databases

ArrayExpressQ8TA86.
BgeeQ8TA86.
CleanExHS_RP9.
GenevestigatorQ8TA86.

Family and domain databases

InterProIPR001878. Znf_CCHC.
[Graphical view]
SMARTSM00343. ZnF_C2HC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiRP9.
GenomeRNAi6100.
NextBio23729.
PROQ8TA86.
SOURCESearch...

Entry information

Entry nameRP9_HUMAN
AccessionPrimary (citable) accession number: Q8TA86
Entry history
Integrated into UniProtKB/Swiss-Prot: November 14, 2003
Last sequence update: November 14, 2003
Last modified: July 9, 2014
This is version 106 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM