AMBN_HUMAN
ID AMBN_HUMAN Reviewed; 447 AA.
AC Q9NP70; Q3B862; Q9H2X1; Q9H4L1;
DT 10-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=Ameloblastin;
DE Flags: Precursor;
GN Name=AMBN;
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).
RC TISSUE=Molar;
RA Yang J., Zeichner-David M.;
RT "Isolation and characterization of human ameloblastin cDNA.";
RL Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS AMELOBLATOMA THR-11;
RP 396-GLY-ALA-397 AND ARG-439.
RX PubMed=11054529; DOI=10.1016/s0378-1119(00)00379-6;
RA Toyosawa S., Fujiwara T., Ooshima T., Shintani S., Sato A., Ogawa Y.,
RA Sobue S., Ijuhin N.;
RT "Cloning and characterization of the human ameloblastin gene.";
RL Gene 256:1-11(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Molar;
RX PubMed=10946765; DOI=10.1034/j.1600-0722.2000.108004303.x;
RA MacDougall M., Simmons D., Gu T.T., Forsman-Semb K., Mardh C.K., Mesbah M.,
RA Forest N., Krebsbach P.H., Yamada Y., Berdal A.;
RT "Cloning, characterization and immunolocalization of human ameloblastin.";
RL Eur. J. Oral Sci. 108:303-310(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT PRO-354.
RX PubMed=11330937; DOI=10.1034/j.1600-0722.2001.00979.x;
RA Mardh C.K., Backman B., Simmons D., Golovleva I., Gu T.T., Holmgren G.,
RA MacDougall M., Forsman-Semb K.;
RT "Human ameloblastin gene: genomic organization and mutation analysis in
RT amelogenesis imperfecta patients.";
RL Eur. J. Oral Sci. 109:8-13(2001).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT PRO-354.
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 [6]
RP INVOLVEMENT IN AI1F.
RX PubMed=24858907; DOI=10.1093/hmg/ddu247;
RA Poulter J.A., Murillo G., Brookes S.J., Smith C.E., Parry D.A., Silva S.,
RA Kirkham J., Inglehearn C.F., Mighell A.J.;
RT "Deletion of ameloblastin exon 6 is associated with amelogenesis
RT imperfecta.";
RL Hum. Mol. Genet. 23:5317-5324(2014).
CC -!- FUNCTION: Involved in the mineralization and structural organization of
CC enamel.
CC -!- INTERACTION:
CC Q9NP70; P46379-2: BAG6; NbExp=3; IntAct=EBI-11893530, EBI-10988864;
CC Q9NP70; Q96A83-2: COL26A1; NbExp=3; IntAct=EBI-11893530, EBI-21553822;
CC Q9NP70; O75190-2: DNAJB6; NbExp=3; IntAct=EBI-11893530, EBI-12593112;
CC Q9NP70; Q9Y624: F11R; NbExp=3; IntAct=EBI-11893530, EBI-742600;
CC Q9NP70; Q8IXL6: FAM20C; NbExp=2; IntAct=EBI-11893530, EBI-7147442;
CC Q9NP70; Q9UMF0: ICAM5; NbExp=3; IntAct=EBI-11893530, EBI-6398041;
CC Q9NP70; O14901: KLF11; NbExp=3; IntAct=EBI-11893530, EBI-948266;
CC Q9NP70; Q9BVL2: NUP58; NbExp=3; IntAct=EBI-11893530, EBI-2811583;
CC Q9NP70; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-11893530, EBI-947187;
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC matrix.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NP70-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NP70-2; Sequence=VSP_000224;
CC -!- TISSUE SPECIFICITY: Ameloblast-specific. Located at the Tomes processes
CC of secretory ameloblasts and in the sheath space between rod-interrod
CC enamel.
CC -!- DISEASE: Amelogenesis imperfecta 1F (AI1F) [MIM:616270]: A form of
CC amelogenesis imperfecta, a disorder characterized by defective enamel
CC formation. The enamel may be hypoplastic, hypomineralized or both, and
CC affected teeth may be discoloured, sensitive or prone to
CC disintegration. AI1F is characterized by hypoplastic enamel of the
CC primary and secondary dentition. {ECO:0000269|PubMed:24858907}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- SIMILARITY: Belongs to the ameloblastin family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/AMBNID51161ch4q13.html";
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DR EMBL; AF263464; AAF73048.1; -; mRNA.
DR EMBL; AF219994; AAF37355.1; -; mRNA.
DR EMBL; AF209780; AAG35772.1; -; mRNA.
DR EMBL; AY009124; AAG27036.1; -; Genomic_DNA.
DR EMBL; AY009116; AAG27036.1; JOINED; Genomic_DNA.
DR EMBL; AY009117; AAG27036.1; JOINED; Genomic_DNA.
DR EMBL; AY009118; AAG27036.1; JOINED; Genomic_DNA.
DR EMBL; AY009119; AAG27036.1; JOINED; Genomic_DNA.
DR EMBL; AY009120; AAG27036.1; JOINED; Genomic_DNA.
DR EMBL; AY009121; AAG27036.1; JOINED; Genomic_DNA.
DR EMBL; AY009122; AAG27036.1; JOINED; Genomic_DNA.
DR EMBL; AY009123; AAG27036.1; JOINED; Genomic_DNA.
DR EMBL; BC106931; AAI06932.1; -; mRNA.
DR CCDS; CCDS3543.1; -. [Q9NP70-1]
DR RefSeq; NP_057603.1; NM_016519.5. [Q9NP70-1]
DR AlphaFoldDB; Q9NP70; -.
DR BioGRID; 106756; 7.
DR IntAct; Q9NP70; 12.
DR STRING; 9606.ENSP00000313809; -.
DR GlyGen; Q9NP70; 1 site.
DR iPTMnet; Q9NP70; -.
DR PhosphoSitePlus; Q9NP70; -.
DR BioMuta; AMBN; -.
DR DMDM; 23813668; -.
DR MassIVE; Q9NP70; -.
DR PaxDb; Q9NP70; -.
DR PeptideAtlas; Q9NP70; -.
DR PRIDE; Q9NP70; -.
DR Antibodypedia; 24340; 130 antibodies from 21 providers.
DR DNASU; 258; -.
DR Ensembl; ENST00000322937.10; ENSP00000313809.6; ENSG00000178522.15. [Q9NP70-1]
DR Ensembl; ENST00000449493.2; ENSP00000391234.2; ENSG00000178522.15. [Q9NP70-2]
DR GeneID; 258; -.
DR KEGG; hsa:258; -.
DR MANE-Select; ENST00000322937.10; ENSP00000313809.6; NM_016519.6; NP_057603.1.
DR UCSC; uc003hfl.4; human. [Q9NP70-1]
DR CTD; 258; -.
DR DisGeNET; 258; -.
DR GeneCards; AMBN; -.
DR HGNC; HGNC:452; AMBN.
DR HPA; ENSG00000178522; Not detected.
DR MalaCards; AMBN; -.
DR MIM; 601259; gene.
DR MIM; 616270; phenotype.
DR neXtProt; NX_Q9NP70; -.
DR OpenTargets; ENSG00000178522; -.
DR Orphanet; 100031; Hypoplastic amelogenesis imperfecta.
DR PharmGKB; PA24758; -.
DR VEuPathDB; HostDB:ENSG00000178522; -.
DR eggNOG; ENOG502QWCP; Eukaryota.
DR GeneTree; ENSGT00390000018227; -.
DR InParanoid; Q9NP70; -.
DR OMA; KPAMGGD; -.
DR PhylomeDB; Q9NP70; -.
DR TreeFam; TF337860; -.
DR PathwayCommons; Q9NP70; -.
DR Reactome; R-HSA-381426; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs).
DR Reactome; R-HSA-8957275; Post-translational protein phosphorylation.
DR SignaLink; Q9NP70; -.
DR BioGRID-ORCS; 258; 12 hits in 1061 CRISPR screens.
DR GenomeRNAi; 258; -.
DR Pharos; Q9NP70; Tbio.
DR PRO; PR:Q9NP70; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9NP70; protein.
DR Bgee; ENSG00000178522; Expressed in putamen and 28 other tissues.
DR ExpressionAtlas; Q9NP70; baseline and differential.
DR Genevisible; Q9NP70; HS.
DR GO; GO:0005788; C:endoplasmic reticulum lumen; TAS:Reactome.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-KW.
DR GO; GO:0008083; F:growth factor activity; ISS:BHF-UCL.
DR GO; GO:0030345; F:structural constituent of tooth enamel; IEA:InterPro.
DR GO; GO:0031214; P:biomineral tissue development; IEA:UniProtKB-KW.
DR GO; GO:0007155; P:cell adhesion; ISS:BHF-UCL.
DR GO; GO:0042475; P:odontogenesis of dentin-containing tooth; IEA:InterPro.
DR GO; GO:0042127; P:regulation of cell population proliferation; ISS:BHF-UCL.
DR InterPro; IPR007798; Amelin.
DR PANTHER; PTHR14115; PTHR14115; 1.
DR Pfam; PF05111; Amelin; 1.
DR SMART; SM00817; Amelin; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Amelogenesis imperfecta; Biomineralization;
KW Extracellular matrix; Glycoprotein; Hydroxylation; Phosphoprotein;
KW Reference proteome; Repeat; Secreted; Signal.
FT SIGNAL 1..26
FT /evidence="ECO:0000255"
FT CHAIN 27..447
FT /note="Ameloblastin"
FT /id="PRO_0000001192"
FT REPEAT 189..201
FT /note="1"
FT REPEAT 202..214
FT /note="2"
FT REGION 165..211
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 307..338
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 353..383
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 37
FT /note="Hydroxyproline"
FT /evidence="ECO:0000250"
FT MOD_RES 43
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q28989"
FT CARBOHYD 112
FT /note="O-linked (GalNAc...) serine"
FT /evidence="ECO:0000250"
FT VAR_SEQ 99..113
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10946765"
FT /id="VSP_000224"
FT VARIANT 11
FT /note="M -> T (in ameloblastoma)"
FT /evidence="ECO:0000269|PubMed:11054529"
FT /id="VAR_014066"
FT VARIANT 255
FT /note="A -> V (in dbSNP:rs7439186)"
FT /id="VAR_048225"
FT VARIANT 354
FT /note="L -> P (in dbSNP:rs72654387)"
FT /evidence="ECO:0000269|PubMed:11330937,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_014067"
FT VARIANT 396..397
FT /note="RT -> GA (in an ameloblastoma sample)"
FT /id="VAR_014068"
FT VARIANT 439
FT /note="H -> R (in an ameloblastoma sample;
FT dbSNP:rs375426598)"
FT /evidence="ECO:0000269|PubMed:11054529"
FT /id="VAR_014069"
FT CONFLICT 159
FT /note="E -> K (in Ref. 3; AAG35772 and 4; AAG27036)"
FT /evidence="ECO:0000305"
FT CONFLICT 166
FT /note="Q -> R (in Ref. 3; AAG35772 and 4; AAG27036)"
FT /evidence="ECO:0000305"
FT CONFLICT 180
FT /note="G -> R (in Ref. 3; AAG35772 and 4; AAG27036)"
FT /evidence="ECO:0000305"
FT CONFLICT 355..357
FT /note="ALP -> VFL (in Ref. 3; AAG35772)"
FT /evidence="ECO:0000305"
FT CONFLICT 367
FT /note="S -> D (in Ref. 3; AAG35772)"
FT /evidence="ECO:0000305"
FT CONFLICT 383
FT /note="A -> V (in Ref. 3; AAG35772)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 447 AA; 48283 MW; D5CAFAA76B55758C CRC64;
MSASKIPLFK MKDLILILCL LEMSFAVPFF PQQSGTPGMA SLSLETMRQL GSLQRLNTLS
QYSRYGFGKS FNSLWMHGLL PPHSSLPWMR PREHETQQYE YSLPVHPPPL PSQPSLKPQQ
PGLKPFLQSA AATTNQATAL KEALQPPIHL GHLPLQEGEL PLVQQQVAPS DKPPKPELPG
VDFADPQGPS LPGMDFPDPQ GPSLPGLDFA DPQGSTIFQI ARLISHGPMP QNKQSPLYPG
MLYVPFGANQ LNAPARLGIM SSEEVAGGRE DPMAYGAMFP GFGGMRPGFE GMPHNPAMGG
DFTLEFDSPV AATKGPENEE GGAQGSPMPE ANPDNLENPA FLTELEPAPH AGLLALPKDD
IPGLPRSPSG KMKGLPSVTP AAADPLMTPE LADVYRTYDA DMTTSVDFQE EATMDTTMAP
NSLQTSMPGN KAQEPEMMHD AWHFQEP
