O75679 (RFPL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ret finger protein-like 3

Gene names

Name:

RFPL3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	317 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Alternative splicing Polymorphism
Domain	Zinc-finger
Ligand	Metal-binding Zinc
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular_function	zinc 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 317	317	Ret finger protein-like 3		PRO_0000056032
Regions
	Domain	107 – 301	195	B30.2/SPRY
	Zinc finger	40 – 82	43	RING-type
Natural variations
	Alternative sequence	1 – 29	29	Missing in isoform 2.		VSP_045651
	Natural variant	83	1	M → T. Corresponds to variant rs16987625 [ dbSNP | Ensembl ].		VAR_052091
	Natural variant	110	1	L → M. Ref.4 Corresponds to variant rs9621427 [ dbSNP | Ensembl ].		VAR_052092
	Natural variant	126	1	D → N. Corresponds to variant rs9619258 [ dbSNP | Ensembl ].		VAR_052093
	Natural variant	181	1	Y → C. Corresponds to variant rs5749408 [ dbSNP | Ensembl ].		VAR_059814

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 15, 2005. Version 2. Checksum: 6C27D4829924D2FB	FASTA	317	35,386
	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
	Isoform 2 [UniParc]. Checksum: E1FB99D29C010E3E	FASTA	288	32,171
	10 20 30 40 50 60 MAALFQEASS CPVCSDYLEK PMSLECGCTV CLKCINSLQK EPHGEDLLCC CCSMVSQRNK 70 80 90 100 110 120 IRPNRQLERL VSHIKELEPK LKKILQMNPR MRKFQVDMTL DADTANNFLL ISDDLRSVRS 130 140 150 160 170 180 GLITQNRQDL AERFDVSVCI LGSPRFTCGR HYWEVDVGTS TEWDLGVCRE SVHCKGKIQL 190 200 210 220 230 240 TTELGFWTVS LRDGSRLSAS TVPLTFLLVD RKLQRVGIFL DMGMQNVSFF DAESGSHVYT 250 260 270 280 FRSVSAEEPL RPFLAPSIPP NGDQGVLSIC PLMNSGTTDA PVRPGEAK

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00550132. IPI00748883.
RefSeq	NP_001092005.1. NM_001098535.1. NP_006595.1. NM_006604.2.
UniGene	Hs.558455.
3D structure databases
ProteinModelPortal	O75679.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000249007.
Proteomic databases
PaxDb	O75679.
PRIDE	O75679.
Protocols and materials databases
DNASU	10738.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000249007; ENSP00000249007; ENSG00000128276. ENST00000382088; ENSP00000371520; ENSG00000128276. ENST00000397468; ENSP00000380609; ENSG00000128276.
GeneID	10738.
KEGG	hsa:10738.
UCSC	uc003amj.3. human.
Organism-specific databases
CTD	10738.
GeneCards	GC22P032750.
H-InvDB	HIX0027856.
HGNC	HGNC:9980. RFPL3.
MIM	605970. gene.
neXtProt	NX_O75679.
PharmGKB	PA34349.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG267502.
HOGENOM	HOG000230861.
HOVERGEN	HBG061854.
InParanoid	O75679.
OMA	GNLANKR.
Gene expression databases
ArrayExpress	O75679.
Bgee	O75679.
CleanEx	HS_RFPL3.
Genevestigator	O75679.
GermOnline	ENSG00000128276. Homo sapiens.
Family and domain databases
Gene3D	3.30.40.10. 1 hit.
InterPro	IPR001870. 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]
Pfam	PF11002. RDM. 1 hit. PF00622. SPRY. 1 hit. [Graphical view]
PRINTS	PR01407. BUTYPHLNCDUF.
SMART	SM00589. PRY. 1 hit. SM00184. RING. 1 hit. SM00449. SPRY. 1 hit. [Graphical view]
SUPFAM	SSF49899. ConA_like_lec_gl. 1 hit.
PROSITE	PS50188. B302_SPRY. 1 hit. PS00518. ZF_RING_1. False negative. PS50089. ZF_RING_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	RFPL3. human.
GenomeRNAi	10738.
NextBio	40770.
SOURCE	Search...

Entry information

Entry name

RFPL3_HUMAN

Accession

Primary (citable) accession number: O75679
Secondary accession number(s): A2A279 , Q6IC03, Q6IC04, Q6NSX3, Q8N5R4

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	March 15, 2005
Last modified:	May 1, 2013
This is version 108 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.