NIBA3_HUMAN
ID NIBA3_HUMAN Reviewed; 697 AA.
AC Q86XR2; B4DNU3; B4DVN7; Q7Z6H6; Q86XR3; Q86XR4; Q8TEQ3;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 2.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=Protein Niban 3 {ECO:0000305};
DE AltName: Full=B-cell novel protein 1 {ECO:0000303|PubMed:12886250};
DE AltName: Full=Niban-like protein 2 {ECO:0000305};
DE AltName: Full=Protein FAM129C;
GN Name=NIBAN3 {ECO:0000312|MIM:609967};
GN Synonyms=BCNP1 {ECO:0000303|PubMed:12886250}, FAM129C;
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), IDENTIFICATION BY MASS
RP SPECTROMETRY, TISSUE SPECIFICITY, AND VARIANT THR-229.
RX PubMed=12886250; DOI=10.1038/sj.leu.2402993;
RA Boyd R.S., Adam P.J., Patel S., Loader J.A., Berry J., Redpath N.T.,
RA Poyser H.R., Fletcher G.C., Burgess N.A., Stamps A.C., Hudson L., Smith P.,
RA Griffiths M., Willis T.G., Karran E.L., Oscier D.G., Catovsky D.,
RA Terrett J.A., Dyer M.J.S.;
RT "Proteomic analysis of the cell-surface membrane in chronic lymphocytic
RT leukemia: identification of two novel proteins, BCNP1 and MIG2B.";
RL Leukemia 17:1605-1612(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 16-569 (ISOFORM 7), AND VARIANT THR-229.
RC TISSUE=Lung, and Spleen;
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).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 15-697 (ISOFORM 5), AND VARIANT
RP THR-229.
RC TISSUE=Spleen;
RX PubMed=12693554; DOI=10.1093/dnares/10.1.49;
RA Jikuya H., Takano J., Kikuno R., Hirosawa M., Nagase T., Nomura N.,
RA Ohara O.;
RT "Characterization of long cDNA clones from human adult spleen. II. The
RT complete sequences of 81 cDNA clones.";
RL DNA Res. 10:49-57(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 20-697 (ISOFORM 4), AND VARIANT
RP THR-229.
RC TISSUE=Testis;
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).
CC -!- INTERACTION:
CC Q86XR2; O95817: BAG3; NbExp=3; IntAct=EBI-2796690, EBI-747185;
CC Q86XR2; Q99750: MDFI; NbExp=3; IntAct=EBI-2796690, EBI-724076;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=7;
CC Name=1; Synonyms=3;
CC IsoId=Q86XR2-1; Sequence=Displayed;
CC Name=2; Synonyms=1;
CC IsoId=Q86XR2-2; Sequence=VSP_032129;
CC Name=3; Synonyms=2;
CC IsoId=Q86XR2-3; Sequence=VSP_032130, VSP_032131;
CC Name=4;
CC IsoId=Q86XR2-4; Sequence=VSP_032126, VSP_032130, VSP_032131;
CC Name=5;
CC IsoId=Q86XR2-5; Sequence=VSP_032127, VSP_032128;
CC Name=6;
CC IsoId=Q86XR2-6; Sequence=VSP_054124;
CC Name=7;
CC IsoId=Q86XR2-7; Sequence=VSP_054125, VSP_054126, VSP_032130,
CC VSP_032131;
CC -!- TISSUE SPECIFICITY: Specifically expressed in B-lymphocytes.
CC {ECO:0000269|PubMed:12886250}.
CC -!- SIMILARITY: Belongs to the Niban family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAG62749.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY254197; AAO83574.1; -; mRNA.
DR EMBL; AY254198; AAO83575.1; -; mRNA.
DR EMBL; AY254199; AAO83576.1; -; mRNA.
DR EMBL; AK298062; BAG60355.1; -; mRNA.
DR EMBL; AK301159; BAG62749.1; ALT_INIT; mRNA.
DR EMBL; AC010618; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK074069; BAB84895.1; -; mRNA.
DR EMBL; BC053606; AAH53606.1; -; mRNA.
DR CCDS; CCDS12362.1; -. [Q86XR2-1]
DR CCDS; CCDS42521.1; -. [Q86XR2-3]
DR CCDS; CCDS82317.1; -. [Q86XR2-6]
DR RefSeq; NP_001091994.1; NM_001098524.1. [Q86XR2-3]
DR RefSeq; NP_001308756.1; NM_001321827.1.
DR RefSeq; NP_001308757.1; NM_001321828.1. [Q86XR2-6]
DR RefSeq; NP_775815.2; NM_173544.4. [Q86XR2-1]
DR AlphaFoldDB; Q86XR2; -.
DR SMR; Q86XR2; -.
DR BioGRID; 128274; 3.
DR IntAct; Q86XR2; 7.
DR STRING; 9606.ENSP00000335040; -.
DR iPTMnet; Q86XR2; -.
DR PhosphoSitePlus; Q86XR2; -.
DR BioMuta; FAM129C; -.
DR DMDM; 317373397; -.
DR jPOST; Q86XR2; -.
DR MassIVE; Q86XR2; -.
DR MaxQB; Q86XR2; -.
DR PaxDb; Q86XR2; -.
DR PeptideAtlas; Q86XR2; -.
DR PRIDE; Q86XR2; -.
DR ProteomicsDB; 4725; -.
DR ProteomicsDB; 70316; -. [Q86XR2-1]
DR ProteomicsDB; 70317; -. [Q86XR2-2]
DR ProteomicsDB; 70318; -. [Q86XR2-3]
DR ProteomicsDB; 70319; -. [Q86XR2-4]
DR ProteomicsDB; 70320; -. [Q86XR2-5]
DR Antibodypedia; 27719; 54 antibodies from 11 providers.
DR DNASU; 199786; -.
DR Ensembl; ENST00000332386.9; ENSP00000333447.4; ENSG00000167483.19. [Q86XR2-3]
DR Ensembl; ENST00000335393.8; ENSP00000335040.3; ENSG00000167483.19. [Q86XR2-1]
DR Ensembl; ENST00000449408.6; ENSP00000394929.2; ENSG00000167483.19. [Q86XR2-6]
DR Ensembl; ENST00000595684.5; ENSP00000470106.1; ENSG00000167483.19. [Q86XR2-2]
DR GeneID; 199786; -.
DR KEGG; hsa:199786; -.
DR UCSC; uc060vkb.1; human. [Q86XR2-1]
DR CTD; 199786; -.
DR DisGeNET; 199786; -.
DR GeneCards; NIBAN3; -.
DR HGNC; HGNC:24130; NIBAN3.
DR HPA; ENSG00000167483; Group enriched (bone marrow, intestine, lymphoid tissue).
DR MIM; 609967; gene.
DR neXtProt; NX_Q86XR2; -.
DR OpenTargets; ENSG00000167483; -.
DR PharmGKB; PA162386017; -.
DR VEuPathDB; HostDB:ENSG00000167483; -.
DR eggNOG; ENOG502QV2S; Eukaryota.
DR GeneTree; ENSGT00940000154149; -.
DR HOGENOM; CLU_648840_0_0_1; -.
DR InParanoid; Q86XR2; -.
DR OrthoDB; 325978at2759; -.
DR PhylomeDB; Q86XR2; -.
DR TreeFam; TF333351; -.
DR PathwayCommons; Q86XR2; -.
DR SignaLink; Q86XR2; -.
DR BioGRID-ORCS; 199786; 18 hits in 1064 CRISPR screens.
DR GenomeRNAi; 199786; -.
DR Pharos; Q86XR2; Tdark.
DR PRO; PR:Q86XR2; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q86XR2; protein.
DR Bgee; ENSG00000167483; Expressed in spleen and 139 other tissues.
DR ExpressionAtlas; Q86XR2; baseline and differential.
DR Genevisible; Q86XR2; HS.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR026088; Niban-like.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR PANTHER; PTHR14392; PTHR14392; 1.
DR SMART; SM00233; PH; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..697
FT /note="Protein Niban 3"
FT /id="PRO_0000323759"
FT REGION 1..48
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..274
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054124"
FT VAR_SEQ 72..94
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054125"
FT VAR_SEQ 513..548
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032126"
FT VAR_SEQ 550..593
FT /note="ELPEFEGDVLAVGSQALTTEGIYEDVIRGCLLQRIDQELKKTLG -> TESR
FT SVAQAVVQWCDLGSLRPPPPRFKRSSHLGLPSSWDYRHPL (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:12693554"
FT /id="VSP_032127"
FT VAR_SEQ 587..614
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054126"
FT VAR_SEQ 594..697
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:12693554"
FT /id="VSP_032128"
FT VAR_SEQ 615..697
FT /note="APNLNLVSSFLAGRQAFTDFLCLPAKSSANWILAASLLSCSCFRSGFHRDSR
FT VFLVQLAEGLSHSLETVSSHSVWSFRPTPRQ -> GGELHRLLKHASDCWGWGGGGPHG
FT VYGIVMSVGSWTEQNALCLLTQPAWPSS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12886250"
FT /id="VSP_032129"
FT VAR_SEQ 615..651
FT /note="APNLNLVSSFLAGRQAFTDFLCLPAKSSANWILAASL -> DEETEAEREGG
FT ACPRQPDSGAQIQPLCPPPSPGTFRS (in isoform 3, isoform 4 and
FT isoform 7)"
FT /evidence="ECO:0000303|PubMed:12886250,
FT ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15489334"
FT /id="VSP_032130"
FT VAR_SEQ 652..697
FT /note="Missing (in isoform 3, isoform 4 and isoform 7)"
FT /evidence="ECO:0000303|PubMed:12886250,
FT ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15489334"
FT /id="VSP_032131"
FT VARIANT 229
FT /note="I -> T (in dbSNP:rs8107859)"
FT /evidence="ECO:0000269|PubMed:12693554,
FT ECO:0000269|PubMed:12886250, ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_039583"
FT VARIANT 493
FT /note="T -> M (in dbSNP:rs45532635)"
FT /id="VAR_062126"
FT VARIANT 543
FT /note="L -> F (in dbSNP:rs10401716)"
FT /id="VAR_039584"
FT VARIANT 603
FT /note="G -> S (in dbSNP:rs11666267)"
FT /id="VAR_039585"
FT CONFLICT Q86XR2-7:591
FT /note="P -> S (in Ref. 2; BAG62749)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 697 AA; 77413 MW; CCBE313060488839 CRC64;
MGPDRKEVPL SRGTQAVVVG KGRGAPGDDS SMGGRPSSPL DKQQRQHLRG QVDTLLRNFL
PCYRGQLAAS VLRQISRELG PQEPTGSQLL RSKKLPRVRE HRGPLTQLRG HPPRWQPIFC
VLRGDGRLEW FSHKEEYENG GHCLGSTALT GYTLLTSQRE YLRLLDALCP ESLGDHTQEE
PDSLLEVPVS FPLFLQHPFR RHLCFSAATR EAQHAWRLAL QGGIRLQGIV LQRSQAPAAR
AFLDAVRLYR QHQGHFGDDD VTLGSDAEVL TAVLMREQLP ALRAQTLPGL RGAGRARAWA
WTELLDAVHA AVLAGASAGL CAFQPEKDEL LASLEKTIRP DVDQLLRQRA RVAGRLRTDI
RGPLESCLRR EVDPQLPRVV QTLLRTVEAS LEAVRTLLAQ GMDRLSHRLR QSPSGTRLRR
EVYSFGEMPW DLALMQTCYR EAERSRGRLG QLAAPFGFLG MQSLVFGAQD LAQQLMADAV
ATFLQLADQC LTTALNCDQA AQRLERVRGR VLKKFKSDSG LAQRRFIRGW GLCIFLPFVL
SQLEPGCKKE LPEFEGDVLA VGSQALTTEG IYEDVIRGCL LQRIDQELKK TLGANDVSCT
LDGCLEVPWE QEGAAPNLNL VSSFLAGRQA FTDFLCLPAK SSANWILAAS LLSCSCFRSG
FHRDSRVFLV QLAEGLSHSL ETVSSHSVWS FRPTPRQ
