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O75679 (RFPL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 120. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ret finger protein-like 3
Gene names
Name:RFPL3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length317 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 1 B30.2/SPRY domain.

Contains 1 RING-type zinc finger.

Sequence caution

The sequence CAA09046.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainZinc-finger
   LigandMetal-binding
Zinc
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Molecular_functionzinc ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O75679-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: O75679-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 317317Ret finger protein-like 3
PRO_0000056032

Regions

Domain107 – 301195B30.2/SPRY
Zinc finger40 – 8243RING-type

Natural variations

Alternative sequence1 – 2929Missing in isoform 2.
VSP_045651
Natural variant831M → T.
Corresponds to variant rs16987625 [ dbSNP | Ensembl ].
VAR_052091
Natural variant1101L → M. Ref.4
Corresponds to variant rs9621427 [ dbSNP | Ensembl ].
VAR_052092
Natural variant1261D → N.
Corresponds to variant rs9619258 [ dbSNP | Ensembl ].
VAR_052093
Natural variant1811Y → C.
Corresponds to variant rs5749408 [ dbSNP | Ensembl ].
VAR_059814

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 15, 2005. Version 2.
Checksum: 6C27D4829924D2FB

FASTA31735,386
        10         20         30         40         50         60 
MKRLSLVTTN RLSPQGNFLP LCTFPLAVDM AALFQEASSC PVCSDYLEKP MSLECGCTVC 

        70         80         90        100        110        120 
LKCINSLQKE PHGEDLLCCC CSMVSQRNKI RPNRQLERLV SHIKELEPKL KKILQMNPRM 

       130        140        150        160        170        180 
RKFQVDMTLD ADTANNFLLI SDDLRSVRSG LITQNRQDLA ERFDVSVCIL GSPRFTCGRH 

       190        200        210        220        230        240 
YWEVDVGTST EWDLGVCRES VHCKGKIQLT TELGFWTVSL RDGSRLSAST VPLTFLLVDR 

       250        260        270        280        290        300 
KLQRVGIFLD MGMQNVSFFD AESGSHVYTF RSVSAEEPLR PFLAPSIPPN GDQGVLSICP 

       310 
LMNSGTTDAP VRPGEAK 

« Hide

Isoform 2 [UniParc].

Checksum: E1FB99D29C010E3E
Show »

FASTA28832,171

References

« Hide 'large scale' references
[1]"Duplications on human chromosome 22 reveal a novel Ret finger protein-like gene family with sense and endogenous antisense transcripts."
Seroussi E., Kedra D., Pan H.-Q., Peyrad M., Schwartz C., Scambler P., Donnai D., Roe B.A., Dumanski J.P.
Genome Res. 9:803-814(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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] (ISOFORMS 1 AND 2), VARIANT MET-110.
Tissue: Brain.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ010232 mRNA. Translation: CAA09046.1. Different initiation.
CR456564 mRNA. Translation: CAG30450.1.
AL021937 Genomic DNA. Translation: CAB38256.1.
AL021937 Genomic DNA. Translation: CAI19583.1.
BC031689 mRNA. Translation: AAH31689.1.
BC069753 mRNA. Translation: AAH69753.2.
CCDSCCDS13904.1. [O75679-2]
CCDS43011.1. [O75679-1]
RefSeqNP_001092005.1. NM_001098535.1. [O75679-1]
NP_006595.1. NM_006604.2. [O75679-2]
UniGeneHs.558455.

3D structure databases

ProteinModelPortalO75679.
SMRO75679. Positions 35-100, 122-303.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000249007.

Proteomic databases

PaxDbO75679.
PRIDEO75679.

Protocols and materials databases

DNASU10738.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000249007; ENSP00000249007; ENSG00000128276. [O75679-1]
ENST00000382088; ENSP00000371520; ENSG00000128276. [O75679-2]
ENST00000397468; ENSP00000380609; ENSG00000128276. [O75679-2]
GeneID10738.
KEGGhsa:10738.
UCSCuc003amj.3. human. [O75679-1]

Organism-specific databases

CTD10738.
GeneCardsGC22P032750.
H-InvDBHIX0027856.
HGNCHGNC:9980. RFPL3.
MIM605970. gene.
neXtProtNX_O75679.
PharmGKBPA34349.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG267502.
HOGENOMHOG000230861.
HOVERGENHBG061854.
InParanoidO75679.
OMAGNLANKR.
OrthoDBEOG7CVPZS.
PhylomeDBO75679.
TreeFamTF317532.

Gene expression databases

BgeeO75679.
CleanExHS_RFPL3.
GenevestigatorO75679.

Family and domain databases

Gene3D3.30.40.10. 1 hit.
InterProIPR001870. B30.2/SPRY.
IPR003879. Butyrophylin.
IPR008985. ConA-like_lec_gl_sf.
IPR006574. PRY.
IPR022723. RDM_domain_RFPL.
IPR018355. SPla/RYanodine_receptor_subgr.
IPR003877. SPRY_rcpt.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamPF13765. PRY. 1 hit.
PF11002. RDM. 1 hit.
PF00622. SPRY. 1 hit.
[Graphical view]
PRINTSPR01407. BUTYPHLNCDUF.
SMARTSM00589. PRY. 1 hit.
SM00184. RING. 1 hit.
SM00449. SPRY. 1 hit.
[Graphical view]
SUPFAMSSF49899. SSF49899. 1 hit.
PROSITEPS50188. B302_SPRY. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSRFPL3. human.
GenomeRNAi10738.
NextBio40770.
PROO75679.
SOURCESearch...

Entry information

Entry nameRFPL3_HUMAN
AccessionPrimary (citable) accession number: O75679
Secondary accession number(s): A2A279 expand/collapse secondary AC list , Q6IC03, Q6IC04, Q6NSX3, Q8N5R4
Entry history
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: March 15, 2005
Last modified: July 9, 2014
This is version 120 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 22

Human chromosome 22: entries, gene names and cross-references to MIM