RNF39_HUMAN
ID RNF39_HUMAN Reviewed; 420 AA.
AC Q9H2S5; A2BEK3; A6NCD6; B0S858; Q5SPM8; Q5SPM9; Q5SPN0; Q5SRJ9; Q5SRK1;
AC Q5SS29; Q9H2S3; Q9H2S4;
DT 21-JUN-2005, integrated into UniProtKB/Swiss-Prot.
DT 21-JUN-2005, sequence version 2.
DT 03-AUG-2022, entry version 163.
DE RecName: Full=RING finger protein 39;
DE AltName: Full=Protein HZFw;
GN Name=RNF39; Synonyms=HZFW;
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] (ISOFORMS 1; 2 AND 3), VARIANT ASN-268, AND
RP TISSUE SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=11130983; DOI=10.1007/s003350010213;
RA Coriton O., Lepourcelet M., Hampe A., Galibert F., Mosser J.;
RT "Transcriptional analysis of the 69-kb sequence centromeric to HLA-J: a
RT dense and complex structure of five genes.";
RL Mamm. Genome 11:1127-1131(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS PRO-203;
RP THR-245; ASN-268 AND GLU-304.
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: May play a role in prolonged long term-potentiation (LTP)
CC maintenance. {ECO:0000250}.
CC -!- INTERACTION:
CC Q9H2S5; Q10567-3: AP1B1; NbExp=3; IntAct=EBI-12235180, EBI-11978055;
CC Q9H2S5; Q9NQM4: DNAAF6; NbExp=3; IntAct=EBI-12235180, EBI-10239299;
CC Q9H2S5; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-12235180, EBI-5916454;
CC Q9H2S5; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-12235180, EBI-3044087;
CC Q9H2S5; Q6PF18: MORN3; NbExp=3; IntAct=EBI-12235180, EBI-9675802;
CC Q9H2S5; Q15276: RABEP1; NbExp=3; IntAct=EBI-12235180, EBI-447043;
CC Q9H2S5; Q6NUQ1: RINT1; NbExp=3; IntAct=EBI-12235180, EBI-726876;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=HZFW1;
CC IsoId=Q9H2S5-1; Sequence=Displayed;
CC Name=2; Synonyms=HZFW2;
CC IsoId=Q9H2S5-2; Sequence=VSP_014242;
CC Name=3; Synonyms=HZFW3;
CC IsoId=Q9H2S5-3; Sequence=VSP_014240, VSP_014241;
CC -!- TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:11130983}.
CC -!- SEQUENCE CAUTION: [Isoform 3]:
CC Sequence=AAG40630.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF238315; AAG40628.1; -; mRNA.
DR EMBL; AF238316; AAG40629.1; -; mRNA.
DR EMBL; AF238317; AAG40630.1; ALT_FRAME; mRNA.
DR EMBL; AL669914; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL671859; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL845439; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX088647; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX927229; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR388205; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR759763; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR759960; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR933538; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471081; EAX03256.1; -; Genomic_DNA.
DR RefSeq; NP_079512.2; NM_025236.3. [Q9H2S5-1]
DR RefSeq; NP_739575.2; NM_170769.2. [Q9H2S5-2]
DR AlphaFoldDB; Q9H2S5; -.
DR SMR; Q9H2S5; -.
DR BioGRID; 123258; 13.
DR IntAct; Q9H2S5; 7.
DR STRING; 9606.ENSP00000244360; -.
DR iPTMnet; Q9H2S5; -.
DR PhosphoSitePlus; Q9H2S5; -.
DR BioMuta; RNF39; -.
DR DMDM; 68053317; -.
DR EPD; Q9H2S5; -.
DR jPOST; Q9H2S5; -.
DR MassIVE; Q9H2S5; -.
DR PaxDb; Q9H2S5; -.
DR PeptideAtlas; Q9H2S5; -.
DR PRIDE; Q9H2S5; -.
DR ProteomicsDB; 80584; -. [Q9H2S5-1]
DR ProteomicsDB; 80585; -. [Q9H2S5-2]
DR Antibodypedia; 44916; 256 antibodies from 27 providers.
DR DNASU; 80352; -.
DR Ensembl; ENST00000244360.8; ENSP00000244360.7; ENSG00000204618.10.
DR Ensembl; ENST00000376750.6; ENSP00000365941.2; ENSG00000206500.9.
DR Ensembl; ENST00000376751.8; ENSP00000365942.4; ENSG00000204618.10.
DR Ensembl; ENST00000417541.6; ENSP00000407248.2; ENSG00000237733.8.
DR Ensembl; ENST00000425956.6; ENSP00000393560.2; ENSG00000227171.8. [Q9H2S5-1]
DR Ensembl; ENST00000432647.2; ENSP00000398512.2; ENSG00000230332.8. [Q9H2S5-1]
DR Ensembl; ENST00000441449.6; ENSP00000392508.2; ENSG00000236967.8. [Q9H2S5-2]
DR Ensembl; ENST00000442063.2; ENSP00000415281.2; ENSG00000235022.8. [Q9H2S5-2]
DR Ensembl; ENST00000442378.2; ENSP00000401131.2; ENSG00000227171.8. [Q9H2S5-2]
DR Ensembl; ENST00000449145.2; ENSP00000408539.2; ENSG00000237733.8.
DR Ensembl; ENST00000450015.2; ENSP00000407291.2; ENSG00000236967.8. [Q9H2S5-1]
DR Ensembl; ENST00000451425.6; ENSP00000391822.2; ENSG00000230332.8. [Q9H2S5-2]
DR Ensembl; ENST00000456156.6; ENSP00000395696.2; ENSG00000235022.8. [Q9H2S5-1]
DR Ensembl; ENST00000457092.6; ENSP00000405340.2; ENSG00000230467.8. [Q9H2S5-2]
DR GeneID; 80352; -.
DR KEGG; hsa:80352; -.
DR UCSC; uc003npd.4; human. [Q9H2S5-1]
DR CTD; 80352; -.
DR DisGeNET; 80352; -.
DR GeneCards; RNF39; -.
DR HGNC; HGNC:18064; RNF39.
DR HPA; ENSG00000204618; Tissue enhanced (esophagus, skin, vagina).
DR MIM; 607524; gene.
DR neXtProt; NX_Q9H2S5; -.
DR PharmGKB; PA134949953; -.
DR VEuPathDB; HostDB:ENSG00000204618; -.
DR eggNOG; KOG2177; Eukaryota.
DR HOGENOM; CLU_013137_7_5_1; -.
DR InParanoid; Q9H2S5; -.
DR OMA; GESCYAV; -.
DR PhylomeDB; Q9H2S5; -.
DR TreeFam; TF317532; -.
DR PathwayCommons; Q9H2S5; -.
DR SignaLink; Q9H2S5; -.
DR BioGRID-ORCS; 80352; 11 hits in 1112 CRISPR screens.
DR ChiTaRS; RNF39; human.
DR GeneWiki; RNF39; -.
DR GenomeRNAi; 80352; -.
DR Pharos; Q9H2S5; Tbio.
DR PRO; PR:Q9H2S5; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9H2S5; protein.
DR Bgee; ENSG00000204618; Expressed in skin of abdomen and 93 other tissues.
DR Genevisible; Q9H2S5; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0061630; F:ubiquitin protein ligase activity; IBA:GO_Central.
DR GO; GO:0045087; P:innate immune response; IBA:GO_Central.
DR GO; GO:0016567; P:protein ubiquitination; IBA:GO_Central.
DR GO; GO:0010468; P:regulation of gene expression; IBA:GO_Central.
DR Gene3D; 2.60.120.920; -; 1.
DR Gene3D; 3.30.40.10; -; 1.
DR InterPro; IPR001870; B30.2/SPRY.
DR InterPro; IPR043136; B30.2/SPRY_sf.
DR InterPro; IPR003879; Butyrophylin_SPRY.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR InterPro; IPR006574; PRY.
DR InterPro; IPR003877; SPRY_dom.
DR InterPro; IPR018957; Znf_C3HC4_RING-type.
DR InterPro; IPR001841; Znf_RING.
DR InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR InterPro; IPR017907; Znf_RING_CS.
DR Pfam; PF13765; PRY; 1.
DR Pfam; PF00097; zf-C3HC4; 1.
DR PRINTS; PR01407; BUTYPHLNCDUF.
DR SMART; SM00589; PRY; 1.
DR SMART; SM00184; RING; 1.
DR SMART; SM00449; SPRY; 1.
DR SUPFAM; SSF49899; SSF49899; 1.
DR PROSITE; PS50188; B302_SPRY; 1.
DR PROSITE; PS00518; ZF_RING_1; 1.
DR PROSITE; PS50089; ZF_RING_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Metal-binding; Reference proteome; Zinc;
KW Zinc-finger.
FT CHAIN 1..420
FT /note="RING finger protein 39"
FT /id="PRO_0000056080"
FT DOMAIN 210..420
FT /note="B30.2/SPRY"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00548"
FT ZN_FING 88..135
FT /note="RING-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00175"
FT VAR_SEQ 160..251
FT /note="REKLAEPGARAGRRRGGRIPTMGCLDLPGEDMRKTWRRFEVPTSKSSNSEDD
FT LPEDYPVVKKMLHRLTADLTLDPGTAHRRLLISADRRSVQ -> LFGGGIPHSFLGTHS
FT HAHCRSINSNPHFRPKIMRPHLVSTFPRPCSKPNPFLPSGSQNLLSPTATTVLPDFSHS
FT NHSRPAMGNRPSPSVLVK (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11130983"
FT /id="VSP_014240"
FT VAR_SEQ 252..420
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11130983"
FT /id="VSP_014241"
FT VAR_SEQ 326..391
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11130983"
FT /id="VSP_014242"
FT VARIANT 203
FT /note="S -> P (in dbSNP:rs2074479)"
FT /evidence="ECO:0000269|PubMed:14574404"
FT /id="VAR_022723"
FT VARIANT 245
FT /note="A -> T (in dbSNP:rs2301752)"
FT /evidence="ECO:0000269|PubMed:14574404"
FT /id="VAR_022724"
FT VARIANT 268
FT /note="D -> N (in dbSNP:rs1057539)"
FT /evidence="ECO:0000269|PubMed:11130983,
FT ECO:0000269|PubMed:14574404"
FT /id="VAR_022725"
FT VARIANT 304
FT /note="A -> E (in dbSNP:rs2301753)"
FT /evidence="ECO:0000269|PubMed:14574404"
FT /id="VAR_022726"
SQ SEQUENCE 420 AA; 45525 MW; CE9C7869D93016EC CRC64;
MWWRDLTRLR LWLKREAIPG EGRKAAKVNA GVGEKGIYTA SSRGGPPSAR SKAVTVVAEG
AASRSWLSMD APELGPGLVE RLEQLATCPL CGGSFEDPVL LACEHSFCRA CLARRWGTPP
ATGTEASPTA CPCCGLPCPR RSLRSNVRLA VEVRISRELR EKLAEPGARA GRRRGGRIPT
MGCLDLPGED MRKTWRRFEV PTSKSSNSED DLPEDYPVVK KMLHRLTADL TLDPGTAHRR
LLISADRRSV QLAPPGTPAP PDGPKRFDQL PAVLGAQGFG AGRHCWEVET ADAASCRDSS
GEDADDEESH YAVGAAGESV QRKGCVRLCP AGAVWAVEGR GGRLWALTAP EPTLLGGVEP
PPRRIRVDLD WERGRVAFYD GRSLDLLYAF QAPGPLGERI FPLFCTCDPR APLRIVPAES
