BSPRY_HUMAN
ID BSPRY_HUMAN Reviewed; 402 AA.
AC Q5W0U4; B3KS19; Q96DJ2; Q9H4E4; Q9NXN0;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=B box and SPRY domain-containing protein;
GN Name=BSPRY;
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] (ISOFORM 1), AND VARIANT ILE-374.
RC TISSUE=Placenta;
RX PubMed=10978534; DOI=10.1016/s0167-4781(00)00167-6;
RA Schenker T., Trueb B.;
RT "BSPRY, a novel protein of the Ro-Ret family.";
RL Biochim. Biophys. Acta 1493:255-258(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
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.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Colon;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ILE-374.
RC TISSUE=Colon, and Prostate;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
CC -!- FUNCTION: May regulate epithelial calcium transport by inhibiting TRPV5
CC activity. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with TRPV5 and TRPV6. Interacts with YWHAZ/14-3-3
CC protein zeta (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm. Membrane {ECO:0000250}; Peripheral
CC membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5W0U4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5W0U4-2; Sequence=VSP_019527, VSP_019528;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA90980.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AJ276691; CAC09324.1; -; mRNA.
DR EMBL; AL137066; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471090; EAW87374.1; -; Genomic_DNA.
DR EMBL; BC001477; AAH01477.1; -; mRNA.
DR EMBL; AK000157; BAA90980.1; ALT_INIT; mRNA.
DR EMBL; AK092607; BAG52581.1; -; mRNA.
DR CCDS; CCDS43868.1; -. [Q5W0U4-1]
DR RefSeq; NP_001304872.1; NM_001317943.1.
DR RefSeq; NP_001304873.1; NM_001317944.1. [Q5W0U4-2]
DR RefSeq; NP_060158.2; NM_017688.2. [Q5W0U4-1]
DR AlphaFoldDB; Q5W0U4; -.
DR SMR; Q5W0U4; -.
DR BioGRID; 120188; 35.
DR IntAct; Q5W0U4; 27.
DR MINT; Q5W0U4; -.
DR STRING; 9606.ENSP00000363298; -.
DR iPTMnet; Q5W0U4; -.
DR PhosphoSitePlus; Q5W0U4; -.
DR BioMuta; BSPRY; -.
DR DMDM; 74747982; -.
DR EPD; Q5W0U4; -.
DR jPOST; Q5W0U4; -.
DR MassIVE; Q5W0U4; -.
DR MaxQB; Q5W0U4; -.
DR PaxDb; Q5W0U4; -.
DR PeptideAtlas; Q5W0U4; -.
DR PRIDE; Q5W0U4; -.
DR ProteomicsDB; 65776; -. [Q5W0U4-1]
DR ProteomicsDB; 65777; -. [Q5W0U4-2]
DR Antibodypedia; 29777; 51 antibodies from 12 providers.
DR DNASU; 54836; -.
DR Ensembl; ENST00000374183.5; ENSP00000363298.4; ENSG00000119411.11. [Q5W0U4-1]
DR GeneID; 54836; -.
DR KEGG; hsa:54836; -.
DR MANE-Select; ENST00000374183.5; ENSP00000363298.4; NM_017688.3; NP_060158.2.
DR UCSC; uc004bhg.5; human. [Q5W0U4-1]
DR CTD; 54836; -.
DR GeneCards; BSPRY; -.
DR HGNC; HGNC:18232; BSPRY.
DR HPA; ENSG00000119411; Tissue enriched (parathyroid).
DR MIM; 619683; gene.
DR neXtProt; NX_Q5W0U4; -.
DR OpenTargets; ENSG00000119411; -.
DR PharmGKB; PA134979106; -.
DR VEuPathDB; HostDB:ENSG00000119411; -.
DR eggNOG; KOG2177; Eukaryota.
DR GeneTree; ENSGT00940000161096; -.
DR HOGENOM; CLU_050384_0_0_1; -.
DR InParanoid; Q5W0U4; -.
DR OMA; SKACADG; -.
DR OrthoDB; 758185at2759; -.
DR PhylomeDB; Q5W0U4; -.
DR TreeFam; TF351014; -.
DR PathwayCommons; Q5W0U4; -.
DR SignaLink; Q5W0U4; -.
DR BioGRID-ORCS; 54836; 15 hits in 1067 CRISPR screens.
DR ChiTaRS; BSPRY; human.
DR GenomeRNAi; 54836; -.
DR Pharos; Q5W0U4; Tdark.
DR PRO; PR:Q5W0U4; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q5W0U4; protein.
DR Bgee; ENSG00000119411; Expressed in parotid gland and 153 other tissues.
DR Genevisible; Q5W0U4; HS.
DR GO; GO:0031252; C:cell leading edge; IEA:Ensembl.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0016020; C:membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IEA:Ensembl.
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:0006816; P:calcium ion transport; IEA:UniProtKB-KW.
DR GO; GO:1990830; P:cellular response to leukemia inhibitory factor; IEA:Ensembl.
DR GO; GO:0016567; P:protein ubiquitination; IBA:GO_Central.
DR Gene3D; 2.60.120.920; -; 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 Pfam; PF13765; PRY; 1.
DR Pfam; PF00622; SPRY; 1.
DR PRINTS; PR01407; BUTYPHLNCDUF.
DR SMART; SM00589; PRY; 1.
DR SMART; SM00449; SPRY; 1.
DR SUPFAM; SSF49899; SSF49899; 1.
DR PROSITE; PS50188; B302_SPRY; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Calcium; Calcium transport; Cytoplasm; Ion transport;
KW Membrane; Metal-binding; Reference proteome; Transport; Zinc; Zinc-finger.
FT CHAIN 1..402
FT /note="B box and SPRY domain-containing protein"
FT /id="PRO_0000244257"
FT DOMAIN 212..402
FT /note="B30.2/SPRY"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00548"
FT ZN_FING 17..65
FT /note="B box-type"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 187..193
FT /note="TEEAEGI -> HRGHTDR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_019527"
FT VAR_SEQ 194..402
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_019528"
FT VARIANT 261
FT /note="A -> P (in dbSNP:rs34089316)"
FT /id="VAR_048397"
FT VARIANT 293
FT /note="Q -> H (in dbSNP:rs818711)"
FT /id="VAR_026882"
FT VARIANT 374
FT /note="T -> I (in dbSNP:rs3088235)"
FT /evidence="ECO:0000269|PubMed:10978534,
FT ECO:0000269|PubMed:14702039"
FT /id="VAR_026883"
FT CONFLICT 100
FT /note="V -> E (in Ref. 5; BAA90980)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 402 AA; 44381 MW; EEBBB95B0A9863F4 CRC64;
MSAEGAEPGP GSGSGPGPGP LCPEHGQALS WFCGSERRPV CAACAGLGGR CRGHRIRRAE
ERAEELRNKI VDQCERLQLQ SAAITKYVAD VLPGKNQRAV SMASAARELV IQRLSLVRSL
CESEEQRLLE QVHGEEERAH QSILTQRVHW AEALQKLDTI RTGLVGMLTH LDDLQLIQKE
QEIFERTEEA EGILDPQESE MLNFNEKCTR SPLLTQLWAT AVLGSLSGTE DIRIDERTVS
PFLQLSDDRK TLTFSTKKSK ACADGPERFD HWPNALAATS FQNGLHAWMV NVQNSCAYKV
GVASGHLPRK GSGSDCRLGH NAFSWVFSRY DQEFRFSHNG QHEPLGLLRG PAQLGVVLDL
QVQELLFYEP ASGTVLCAHH VSFPGPLFPV FAVADQTISI VR
