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O75679

- RFPL3_HUMAN

UniProt

O75679 - RFPL3_HUMAN

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Protein

Ret finger protein-like 3

Gene

RFPL3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri40 – 8243RING-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. zinc ion binding Source: InterPro
Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Ret finger protein-like 3
Gene namesi
Name:RFPL3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:9980. RFPL3.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34349.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 317317Ret finger protein-like 3PRO_0000056032Add
BLAST

Proteomic databases

PaxDbiO75679.
PRIDEiO75679.

Expressioni

Gene expression databases

BgeeiO75679.
CleanExiHS_RFPL3.
GenevestigatoriO75679.

Interactioni

Protein-protein interaction databases

BioGridi115961. 5 interactions.
STRINGi9606.ENSP00000249007.

Structurei

3D structure databases

ProteinModelPortaliO75679.
SMRiO75679. Positions 35-100, 122-303.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini107 – 301195B30.2/SPRYPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 B30.2/SPRY domain.PROSITE-ProRule annotation
Contains 1 RING-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri40 – 8243RING-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiNOG267502.
GeneTreeiENSGT00760000118993.
HOGENOMiHOG000230861.
HOVERGENiHBG061854.
InParanoidiO75679.
OMAiGNLANKR.
OrthoDBiEOG7CVPZS.
PhylomeDBiO75679.
TreeFamiTF317532.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR001870. B30.2/SPRY.
IPR003879. Butyrophylin.
IPR013320. ConA-like_dom.
IPR006574. PRY.
IPR022723. RDM_domain_RFPL.
IPR003877. SPRY_dom.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF13765. PRY. 1 hit.
PF11002. RDM. 1 hit.
PF00622. SPRY. 1 hit.
[Graphical view]
PRINTSiPR01407. BUTYPHLNCDUF.
SMARTiSM00589. PRY. 1 hit.
SM00184. RING. 1 hit.
SM00449. SPRY. 1 hit.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 1 hit.
PROSITEiPS50188. B302_SPRY. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O75679) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MKRLSLVTTN RLSPQGNFLP LCTFPLAVDM AALFQEASSC PVCSDYLEKP
60 70 80 90 100
MSLECGCTVC LKCINSLQKE PHGEDLLCCC CSMVSQRNKI RPNRQLERLV
110 120 130 140 150
SHIKELEPKL KKILQMNPRM RKFQVDMTLD ADTANNFLLI SDDLRSVRSG
160 170 180 190 200
LITQNRQDLA ERFDVSVCIL GSPRFTCGRH YWEVDVGTST EWDLGVCRES
210 220 230 240 250
VHCKGKIQLT TELGFWTVSL RDGSRLSAST VPLTFLLVDR KLQRVGIFLD
260 270 280 290 300
MGMQNVSFFD AESGSHVYTF RSVSAEEPLR PFLAPSIPPN GDQGVLSICP
310
LMNSGTTDAP VRPGEAK
Length:317
Mass (Da):35,386
Last modified:March 15, 2005 - v2
Checksum:i6C27D4829924D2FB
GO
Isoform 2 (identifier: O75679-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-29: Missing.

Note: No experimental confirmation available.

Show »
Length:288
Mass (Da):32,171
Checksum:iE1FB99D29C010E3E
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti83 – 831M → T.
Corresponds to variant rs16987625 [ dbSNP | Ensembl ].
VAR_052091
Natural varianti110 – 1101L → M.1 Publication
Corresponds to variant rs9621427 [ dbSNP | Ensembl ].
VAR_052092
Natural varianti126 – 1261D → N.
Corresponds to variant rs9619258 [ dbSNP | Ensembl ].
VAR_052093
Natural varianti181 – 1811Y → C.
Corresponds to variant rs5749408 [ dbSNP | Ensembl ].
VAR_059814

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2929Missing in isoform 2. 1 PublicationVSP_045651Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS13904.1. [O75679-2]
CCDS43011.1. [O75679-1]
RefSeqiNP_001092005.1. NM_001098535.1. [O75679-1]
NP_006595.1. NM_006604.2. [O75679-2]
UniGeneiHs.558455.

Genome annotation databases

EnsembliENST00000249007; ENSP00000249007; ENSG00000128276. [O75679-1]
ENST00000397468; ENSP00000380609; ENSG00000128276. [O75679-2]
GeneIDi10738.
KEGGihsa:10738.
UCSCiuc003amj.3. human. [O75679-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS13904.1. [O75679-2 ]
CCDS43011.1. [O75679-1 ]
RefSeqi NP_001092005.1. NM_001098535.1. [O75679-1 ]
NP_006595.1. NM_006604.2. [O75679-2 ]
UniGenei Hs.558455.

3D structure databases

ProteinModelPortali O75679.
SMRi O75679. Positions 35-100, 122-303.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115961. 5 interactions.
STRINGi 9606.ENSP00000249007.

Proteomic databases

PaxDbi O75679.
PRIDEi O75679.

Protocols and materials databases

DNASUi 10738.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000249007 ; ENSP00000249007 ; ENSG00000128276 . [O75679-1 ]
ENST00000397468 ; ENSP00000380609 ; ENSG00000128276 . [O75679-2 ]
GeneIDi 10738.
KEGGi hsa:10738.
UCSCi uc003amj.3. human. [O75679-1 ]

Organism-specific databases

CTDi 10738.
GeneCardsi GC22P032750.
H-InvDB HIX0027856.
HGNCi HGNC:9980. RFPL3.
MIMi 605970. gene.
neXtProti NX_O75679.
PharmGKBi PA34349.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG267502.
GeneTreei ENSGT00760000118993.
HOGENOMi HOG000230861.
HOVERGENi HBG061854.
InParanoidi O75679.
OMAi GNLANKR.
OrthoDBi EOG7CVPZS.
PhylomeDBi O75679.
TreeFami TF317532.

Miscellaneous databases

ChiTaRSi RFPL3. human.
GenomeRNAii 10738.
NextBioi 40770.
PROi O75679.
SOURCEi Search...

Gene expression databases

Bgeei O75679.
CleanExi HS_RFPL3.
Genevestigatori O75679.

Family and domain databases

Gene3Di 3.30.40.10. 1 hit.
InterProi IPR001870. B30.2/SPRY.
IPR003879. Butyrophylin.
IPR013320. ConA-like_dom.
IPR006574. PRY.
IPR022723. RDM_domain_RFPL.
IPR003877. SPRY_dom.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view ]
Pfami PF13765. PRY. 1 hit.
PF11002. RDM. 1 hit.
PF00622. SPRY. 1 hit.
[Graphical view ]
PRINTSi PR01407. BUTYPHLNCDUF.
SMARTi SM00589. PRY. 1 hit.
SM00184. RING. 1 hit.
SM00449. SPRY. 1 hit.
[Graphical view ]
SUPFAMi SSF49899. SSF49899. 1 hit.
PROSITEi PS50188. B302_SPRY. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.
    , 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.

Entry informationi

Entry nameiRFPL3_HUMAN
AccessioniPrimary (citable) accession number: O75679
Secondary accession number(s): A2A279
, Q6IC03, Q6IC04, Q6NSX3, Q8N5R4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: March 15, 2005
Last modified: October 29, 2014
This is version 122 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3