BAMBI_HUMAN
ID BAMBI_HUMAN Reviewed; 260 AA.
AC Q13145;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1997, sequence version 1.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=BMP and activin membrane-bound inhibitor homolog;
DE AltName: Full=Non-metastatic gene A protein;
DE AltName: Full=Putative transmembrane protein NMA;
DE Flags: Precursor;
GN Name=BAMBI; Synonyms=NMA;
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].
RX PubMed=8621228;
RX DOI=10.1002/(sici)1097-0215(19960208)65:4<460::aid-ijc12>3.0.co;2-e;
RA Degen W.G.J., Weterman M.A., van Groningen J.J.M., Cornelissen I.M.A.H.,
RA Lemmers J.P.W.M., Agterbos M.A., van Kessel A.G., Swart G.W.M.,
RA Bloemers H.P.J.;
RT "Expression of nma, a novel gene, inversely correlates with the metastatic
RT potential of human melanoma cell lines and xenografts.";
RL Int. J. Cancer 65:460-465(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 PROTEIN SEQUENCE OF 21-35.
RX PubMed=15340161; DOI=10.1110/ps.04682504;
RA Zhang Z., Henzel W.J.;
RT "Signal peptide prediction based on analysis of experimentally verified
RT cleavage sites.";
RL Protein Sci. 13:2819-2824(2004).
CC -!- FUNCTION: Negatively regulates TGF-beta signaling.
CC -!- INTERACTION:
CC Q13145; Q16617: NKG7; NbExp=3; IntAct=EBI-742991, EBI-3919611;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: High expression in kidney medulla, placenta and
CC spleen; low in kidney cortex, liver, prostate and gut. Not expressed in
CC normal skin, expression is high in melanocytes and in 3 out of 11
CC melanoma metastases tested.
CC -!- DEVELOPMENTAL STAGE: Expression in poorly metastatic human melanoma
CC cell lines; no expression in highly metastatic human melanoma cell
CC lines.
CC -!- SIMILARITY: Belongs to the BAMBI family. {ECO:0000305}.
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DR EMBL; U23070; AAC50435.1; -; mRNA.
DR EMBL; U29189; AAR02414.1; -; Genomic_DNA.
DR EMBL; U29188; AAR02414.1; JOINED; Genomic_DNA.
DR EMBL; BT006820; AAP35466.1; -; mRNA.
DR EMBL; AL161936; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC019252; AAH19252.1; -; mRNA.
DR CCDS; CCDS7162.1; -.
DR RefSeq; NP_036474.1; NM_012342.2.
DR AlphaFoldDB; Q13145; -.
DR BioGRID; 117337; 15.
DR IntAct; Q13145; 8.
DR MINT; Q13145; -.
DR STRING; 9606.ENSP00000364683; -.
DR GlyGen; Q13145; 1 site.
DR iPTMnet; Q13145; -.
DR PhosphoSitePlus; Q13145; -.
DR BioMuta; BAMBI; -.
DR DMDM; 2498645; -.
DR jPOST; Q13145; -.
DR MassIVE; Q13145; -.
DR MaxQB; Q13145; -.
DR PaxDb; Q13145; -.
DR PeptideAtlas; Q13145; -.
DR PRIDE; Q13145; -.
DR ProteomicsDB; 59188; -.
DR Antibodypedia; 26191; 282 antibodies from 31 providers.
DR DNASU; 25805; -.
DR Ensembl; ENST00000375533.6; ENSP00000364683.3; ENSG00000095739.11.
DR GeneID; 25805; -.
DR KEGG; hsa:25805; -.
DR MANE-Select; ENST00000375533.6; ENSP00000364683.3; NM_012342.3; NP_036474.1.
DR UCSC; uc001iuj.2; human.
DR CTD; 25805; -.
DR DisGeNET; 25805; -.
DR GeneCards; BAMBI; -.
DR HGNC; HGNC:30251; BAMBI.
DR HPA; ENSG00000095739; Tissue enhanced (ovary).
DR MIM; 604444; gene.
DR neXtProt; NX_Q13145; -.
DR OpenTargets; ENSG00000095739; -.
DR PharmGKB; PA134909139; -.
DR VEuPathDB; HostDB:ENSG00000095739; -.
DR eggNOG; ENOG502QXJJ; Eukaryota.
DR GeneTree; ENSGT00940000154101; -.
DR HOGENOM; CLU_093515_0_0_1; -.
DR InParanoid; Q13145; -.
DR OMA; TMSTLEC; -.
DR OrthoDB; 1225762at2759; -.
DR PhylomeDB; Q13145; -.
DR TreeFam; TF333466; -.
DR PathwayCommons; Q13145; -.
DR Reactome; R-HSA-2173788; Downregulation of TGF-beta receptor signaling.
DR SignaLink; Q13145; -.
DR SIGNOR; Q13145; -.
DR BioGRID-ORCS; 25805; 44 hits in 1076 CRISPR screens.
DR ChiTaRS; BAMBI; human.
DR GeneWiki; BAMBI; -.
DR GenomeRNAi; 25805; -.
DR Pharos; Q13145; Tbio.
DR PRO; PR:Q13145; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q13145; protein.
DR Bgee; ENSG00000095739; Expressed in tibia and 189 other tissues.
DR Genevisible; Q13145; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IDA:BHF-UCL.
DR GO; GO:0005109; F:frizzled binding; IPI:BHF-UCL.
DR GO; GO:0005114; F:type II transforming growth factor beta receptor binding; TAS:BHF-UCL.
DR GO; GO:0016477; P:cell migration; IDA:BHF-UCL.
DR GO; GO:0030514; P:negative regulation of BMP signaling pathway; IMP:ARUK-UCL.
DR GO; GO:0045668; P:negative regulation of osteoblast differentiation; IMP:ARUK-UCL.
DR GO; GO:0030512; P:negative regulation of transforming growth factor beta receptor signaling pathway; IDA:BHF-UCL.
DR GO; GO:0090263; P:positive regulation of canonical Wnt signaling pathway; IDA:BHF-UCL.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IMP:BHF-UCL.
DR GO; GO:0010718; P:positive regulation of epithelial to mesenchymal transition; IMP:BHF-UCL.
DR GO; GO:0032092; P:positive regulation of protein binding; IMP:BHF-UCL.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:BHF-UCL.
DR GO; GO:0008360; P:regulation of cell shape; IMP:BHF-UCL.
DR GO; GO:0007179; P:transforming growth factor beta receptor signaling pathway; IBA:GO_Central.
DR Gene3D; 2.10.60.10; -; 1.
DR InterPro; IPR009345; BAMBI.
DR InterPro; IPR045806; BAMBI_C.
DR InterPro; IPR045807; BAMBI_N.
DR InterPro; IPR045860; Snake_toxin-like_sf.
DR PANTHER; PTHR15505:SF1; PTHR15505:SF1; 2.
DR Pfam; PF06211; BAMBI; 1.
DR Pfam; PF19337; BAMBI_C; 1.
DR PIRSF; PIRSF037456; BAMBI; 1.
DR SUPFAM; SSF57302; SSF57302; 1.
PE 1: Evidence at protein level;
KW Direct protein sequencing; Glycoprotein; Membrane; Reference proteome;
KW Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..20
FT /evidence="ECO:0000269|PubMed:15340161"
FT CHAIN 21..260
FT /note="BMP and activin membrane-bound inhibitor homolog"
FT /id="PRO_0000020779"
FT TOPO_DOM 21..152
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 153..173
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 174..260
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT CARBOHYD 87
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
SQ SEQUENCE 260 AA; 29108 MW; 70C23268838CE8AB CRC64;
MDRHSSYIFI WLQLELCAMA VLLTKGEIRC YCDAAHCVAT GYMCKSELSA CFSRLLDPQN
SNSPLTHGCL DSLASTTDIC QAKQARNHSG TTIPTLECCH EDMCNYRGLH DVLSPPRGEA
SGQGNRYQHD GSRNLITKVQ ELTSSKELWF RAAVIAVPIA GGLILVLLIM LALRMLRSEN
KRLQDQRQQM LSRLHYSFHG HHSKKGQVAK LDLECMVPVS GHENCCLTCD KMRQADLSND
KILSLVHWGM YSGHGKLEFV
