Reviewed, UniProtKB/Swiss-Prot Q9NP70 (AMBN_HUMAN)

Names and origin

Protein names

Recommended name:
    Ameloblastin

Gene names

Name:

AMBN

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	447 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Involved in the mineralization and structural organization of enamel.
Subcellular location	Secreted › extracellular space › extracellular matrix.
Tissue specificity	Ameloblast-specific. Located at the Tomes processes of secretory ameloblasts and in the sheath space between rod-interrod enamel.
Involvement in disease	Defects in AMBN are found in patients with ameloblastomas.
Sequence similarities	Belongs to the ameloblastin family.

Ontologies

Keywords
Biological process	Biomineralization
Cellular component	Extracellular matrix Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Repeat Signal
Gene Ontology (GO)
Biological process	bone mineralization Non-traceable author statement. Source: UniProtKB
Cellular component	proteinaceous extracellular matrix Non-traceable author statement. Source: UniProtKB
Molecular function	structural constituent of tooth enamel Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NP70-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9NP70-2)

The sequence of this isoform differs from the canonical sequence as follows:
     99-113: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Signal peptide	1 – 26	26	Potential
	Chain	27 – 447	421	Ameloblastin
Regions
	Repeat	189 – 201	13	1
	Repeat	202 – 214	13	2
Natural variations
	Alternative sequence	99 – 113	15	Missing in isoform 2.
	Natural variant	11	1	M → T in ameloblastoma.
	Natural variant	354	1	L → P
	Natural variant	396 – 397	2	RT → GA in ameloblastoma.
	Natural variant	439	1	H → R in ameloblastoma.
Experimental info
	Sequence conflict	159	1	E → K Ref.3 Ref.4
	Sequence conflict	166	1	Q → R Ref.3 Ref.4
	Sequence conflict	180	1	G → R Ref.3 Ref.4
	Sequence conflict	355 – 357	3	ALP → VFL in AAG35772. Ref.3
	Sequence conflict	367	1	S → D in AAG35772. Ref.3
	Sequence conflict	383	1	A → V in AAG35772. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: D5CAFAA76B55758C	FASTA	447	48,283
	10 20 30 40 50 60 MSASKIPLFK MKDLILILCL LEMSFAVPFF PQQSGTPGMA SLSLETMRQL GSLQRLNTLS 70 80 90 100 110 120 QYSRYGFGKS FNSLWMHGLL PPHSSLPWMR PREHETQQYE YSLPVHPPPL PSQPSLKPQQ 130 140 150 160 170 180 PGLKPFLQSA AATTNQATAL KEALQPPIHL GHLPLQEGEL PLVQQQVAPS DKPPKPELPG 190 200 210 220 230 240 VDFADPQGPS LPGMDFPDPQ GPSLPGLDFA DPQGSTIFQI ARLISHGPMP QNKQSPLYPG 250 260 270 280 290 300 MLYVPFGANQ LNAPARLGIM SSEEVAGGRE DPMAYGAMFP GFGGMRPGFE GMPHNPAMGG 310 320 330 340 350 360 DFTLEFDSPV AATKGPENEE GGAQGSPMPE ANPDNLENPA FLTELEPAPH AGLLALPKDD 370 380 390 400 410 420 IPGLPRSPSG KMKGLPSVTP AAADPLMTPE LADVYRTYDA DMTTSVDFQE EATMDTTMAP 430 440 NSLQTSMPGN KAQEPEMMHD AWHFQEP
	Isoform 2 [UniParc]. Checksum: AC3E4A011F13C92D		432	46,577
	10 20 30 40 50 60 MSASKIPLFK MKDLILILCL LEMSFAVPFF PQQSGTPGMA SLSLETMRQL GSLQRLNTLS 70 80 90 100 110 120 QYSRYGFGKS FNSLWMHGLL PPHSSLPWMR PREHETQQPS LKPQQPGLKP FLQSAAATTN 130 140 150 160 170 180 QATALKEALQ PPIHLGHLPL QEGELPLVQQ QVAPSDKPPK PELPGVDFAD PQGPSLPGMD 190 200 210 220 230 240 FPDPQGPSLP GLDFADPQGS TIFQIARLIS HGPMPQNKQS PLYPGMLYVP FGANQLNAPA 250 260 270 280 290 300 RLGIMSSEEV AGGREDPMAY GAMFPGFGGM RPGFEGMPHN PAMGGDFTLE FDSPVAATKG 310 320 330 340 350 360 PENEEGGAQG SPMPEANPDN LENPAFLTEL EPAPHAGLLA LPKDDIPGLP RSPSGKMKGL 370 380 390 400 410 420 PSVTPAAADP LMTPELADVY RTYDADMTTS VDFQEEATMD TTMAPNSLQT SMPGNKAQEP 430 EMMHDAWHFQ EP

References

[1]	"Isolation and characterization of human ameloblastin cDNA." Yang J., Zeichner-David M. Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Molar.
[2]	"Cloning and characterization of the human ameloblastin gene." Toyosawa S., Fujiwara T., Ooshima T., Shintani S., Sato A., Ogawa Y., Sobue S., Ijuhin N. Gene 256:1-11(2000) [PubMed: 11054529] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS AMELOBLATOMA THR-11; 396-GLY-ALA-397 AND ARG-439.
[3]	"Cloning, characterization and immunolocalization of human ameloblastin." MacDougall M., Simmons D., Gu T.T., Forsman-Semb K., Mardh C.K., Mesbah M., Forest N., Krebsbach P.H., Yamada Y., Berdal A. Eur. J. Oral Sci. 108:303-310(2000) [PubMed: 10946765] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). Tissue: Molar.
[4]	"Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients." Mardh C.K., Backman B., Simmons D., Golovleva I., Gu T.T., Holmgren G., MacDougall M., Forsman-Semb K. Eur. J. Oral Sci. 109:8-13(2001) [PubMed: 11330937] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PRO-354.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF263464 mRNA. Translation: AAF73048.1. AF219994 mRNA. Translation: AAF37355.1. AF209780 mRNA. Translation: AAG35772.1. AY009124 , AY009116, AY009117, AY009118, AY009119, AY009120, AY009121, AY009122, AY009123 Genomic DNA. Translation: AAG27036.1.
RefSeq	NP_057603.1.
UniGene	Hs.272396
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000178522. Homo sapiens. [Contig view]
GeneID	258.
KEGG	hsa:258.
Organism-specific databases
H-InvDB	HIX0031378.
HGNC	HGNC:452. AMBN.
MIM	601259. gene.
PharmGKB	PA24758.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q9NP70.
HOVERGEN	Q9NP70.
Gene expression databases
ArrayExpress	Q9NP70.
CleanEx	HS_AMBN.
GermOnline	ENSG00000178522. Homo sapiens.
Family and domain databases
InterPro	IPR007798. Amelin. [Graphical view]
PANTHER	PTHR14115. Amelin. 1 hit.
Pfam	PF05111. Amelin. 1 hit. [Graphical view]
SMART	SM00817. Amelin. 1 hit. [Graphical view]
ProDom	Q9NP70. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
LinkHub	Q9NP70.
SOURCE	Search...
ProtoNet	Search...

Entry information

Entry name

AMBN_HUMAN

Accession

Primary (citable) accession number: Q9NP70
Secondary accession number(s): Q9H2X1, Q9H4L1

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 10, 2002
Last sequence update:	October 1, 2000
Last modified:	July 22, 2008
This is version 51 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)