Q9NRM1 (ENAM_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Enamelin

Gene names

Name:

ENAM

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	1142 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation.
Subcellular location	Secreted › extracellular space › extracellular matrix.
Tissue specificity	Expressed in tooth particularly in odontoblast, ameloblast and cementoblast.
Involvement in disease	Defects in ENAM are the cause of amelogenesis imperfecta type 1B (AI1B) [MIM:104500]. AI1B is an autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI). Ref.6 Ref.7 Defects in ENAM are the cause of amelogenesis imperfecta type 1C (AI1C) [MIM:204650]; also known as amelogenesis imperfecta hypoplastic with or without openbite malocclusion. AI1C is an autosomal recessive defect of dental enamel formation. Teeth show hypoplastic and unmineralized enamel, and a yellow-brown discoloration. Enamel defects can be associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion.

Ontologies

Keywords
Biological process	Biomineralization
Cellular component	Extracellular matrix Secreted
Coding sequence diversity	Polymorphism
Disease	Amelogenesis imperfecta
Domain	Signal
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	bone mineralization Non-traceable author statement. Source: UniProtKB odontogenesis 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...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 39	39	Potential
	Chain	40 – 1142	1103	Enamelin		PRO_0000021174
Amino acid modifications
	Modified residue	906	1	Phosphothreonine By similarity
	Modified residue	911	1	Phosphothreonine By similarity
	Glycosylation	114	1	N-linked (GlcNAc...) Potential
	Glycosylation	126	1	N-linked (GlcNAc...) Potential
	Glycosylation	245	1	N-linked (GlcNAc...) Potential
	Glycosylation	252	1	N-linked (GlcNAc...) Potential
	Glycosylation	265	1	N-linked (GlcNAc...) Potential
	Glycosylation	296	1	N-linked (GlcNAc...) Potential
	Glycosylation	467	1	N-linked (GlcNAc...) Potential
	Glycosylation	534	1	N-linked (GlcNAc...) Potential
	Glycosylation	934	1	N-linked (GlcNAc...) Potential
	Glycosylation	1040	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	576	1	F → L. Corresponds to variant rs2609428 [ dbSNP | Ensembl ].		VAR_024311
	Natural variant	648	1	I → T. Ref.1 Corresponds to variant rs7671281 [ dbSNP | Ensembl ].		VAR_024312
	Natural variant	724	1	P → L. Corresponds to variant rs3796703 [ dbSNP | Ensembl ].		VAR_020105
	Natural variant	763	1	R → Q. Ref.1 Corresponds to variant rs3796704 [ dbSNP | Ensembl ].		VAR_024313
	Natural variant	767	1	D → G. Corresponds to variant rs3796705 [ dbSNP | Ensembl ].		VAR_047076
Experimental info
	Sequence conflict	284	1	P → S in AAG43242. Ref.2
	Sequence conflict	286	1	Q → R in AAG43242. Ref.2
	Sequence conflict	948	1	D → G in AAG43242. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q9NRM1 [UniParc]. Last modified November 4, 2008. Version 3. Checksum: 28274A71BE947EB1	FASTA	1,142	128,785
	10 20 30 40 50 60 MLVLRCRLGT SFPKLDNLVP KGKMKILLVF LGLLGNSVAM PMHMPRMPGF SSKSEEMMRY 70 80 90 100 110 120 NQFNFMNGPH MAHLGPFFGN GLPQQFPQYQ MPMWPQPPPN TWHPRKSSAP KRHNKTDQTQ 130 140 150 160 170 180 ETQKPNQTQS KKPPQKRPLK QPSHNQPQPE EEAQPPQAFP PFGNGLFPYQ QPPWQIPQRL 190 200 210 220 230 240 PPPGYGRPPI SNEEGGNPYF GYFGYHGFGG RPPYYSEEMF EQDFEKPKEE DPPKAESPGT 250 260 270 280 290 300 EPTANSTVTE TNSTQPNPKG SQGGNDTSPT GNSTPGLNTG NNPPAQNGIG PLPAVNASGQ 310 320 330 340 350 360 GGPGSQIPWR PSQPNIRENH PYPNIRNFPS GRQWYFTGTV MGHRQNRPFY RNQQVQRGPR 370 380 390 400 410 420 WNFFAWERKQ VARPGNPVYH KAYPPTSRGN YPNYAGNPAN LRRKPQGPNK HPVGTTVAPL 430 440 450 460 470 480 GPKPGPVVRN EKIQNPKEKP LGPKEQIIVP TKNPTSPWRN SQQYEVNKSN YKLPHSEGYM 490 500 510 520 530 540 PVPNFNSVDQ HENSYYPRGD SRKVPNSDGQ TQSQNLPKGI VLGSRRMPYE SETNQSELKH 550 560 570 580 590 600 SSYQPAVYPE EIPSPAKEHF PAGRNTWDHQ EISPPFKEDP GRQEEHLPHP SHGSRGSVFY 610 620 630 640 650 660 PEYNPYDPRE NSPYLRGNTW DERDDSPNTM GQKESPLYPI NTPDQKEIVP YNEEDPVDPT 670 680 690 700 710 720 GDEVFPGQNR WGEELSFKGG PTVRHYEGEQ YTSNQPKEYL PYSLDNPSKP REDFYYSEFY 730 740 750 760 770 780 PWSPDENFPS YNTASTMPPP IESRGYYVNN AAGPEESTLF PSRNSWDHRI QAQGQRERRP 790 800 810 820 830 840 YFNRNIWDQA THLQKAPARP PDQKGNQPYY SNTPAGLQKN PIWHEGENLN YGMQITRMNS 850 860 870 880 890 900 PEREHSSFPN FIPPSYPSGQ KEAHLFHLSQ RGSCCAGSST GPKDNPLALQ DYTPSYGLAP 910 920 930 940 950 960 GENQDTSPLY TDGSHTKQTR DIISPTSILP GQRNSSEKRE SQNPFRDDVS TLRRNTPCSI 970 980 990 1000 1010 1020 KNQLGQKEIM PFPEASSLQS KNTPCLKNDL GGDGNNILEQ VFEDNQLNER TVDLTPEQLV 1030 1040 1050 1060 1070 1080 IGTPDEGSNP EGIQSQVQEN ESERQQQRPS NILHLPCFGS KLAKHHSSTT GTPSSDGRQS 1090 1100 1110 1120 1130 1140 PFDGDSITPT ENPNTLVELA TEEQFKSINV DPLDADEHSP FEFLQRGTNV QDQVQDCLLL QA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Dietary change and adaptive evolution of enamelin in humans and among primates." Kelley J.L., Swanson W.J. Genetics 178:1595-1603(2008) [PubMed: 18245370] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-648 AND GLN-763.
[2]	"cDNA sequence of human enamelin." Hu C.-C., Qian Q., Zhang C., Fukae M., Uchida T., Simmer J.P. Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]	"Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus." Dong J., Gu T.T., Simmons D., MacDougall M. Eur. J. Oral Sci. 108:353-358(2000) [PubMed: 11037750] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1014-1142.
[6]	"Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta." Rajpar M.H., Harley K., Laing C., Davies R.M., Dixon M.J. Hum. Mol. Genet. 10:1673-1677(2001) [PubMed: 11487571] [Abstract] Cited for: INVOLVEMENT IN AI1B.
[7]	"A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2)." Mardh C.K., Backman B., Holmgren G., Hu J.C., Simmer J.P., Forsman-Semb K. Hum. Mol. Genet. 11:1069-1074(2002) [PubMed: 11978766] [Abstract] Cited for: INVOLVEMENT IN AI1B.
[8]	"Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects." Hart T.C., Hart P.S., Gorry M.C., Michalec M.D., Ryu O.H., Uygur C., Ozdemir D., Firatli S., Aren G., Firatli E. J. Med. Genet. 40:900-906(2003) [PubMed: 14684688] [Abstract] Cited for: INVOLVEMENT IN AI1C.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	EU482096 Genomic DNA. Translation: ACA43029.1. AF125373 mRNA. Translation: AAG43242.1. CH471057 Genomic DNA. Translation: EAX05625.1. BC117308 mRNA. Translation: AAI17309.1. BC117310 mRNA. Translation: AAI17311.1. AF210247 mRNA. Translation: AAF73847.1.
IPI	IPI00016685.
RefSeq	NP_114095.2. NM_031889.2.
UniGene	Hs.667018.
3D structure databases
ProteinModelPortal	Q9NRM1.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9NRM1.
PTM databases
PhosphoSite	Q9NRM1.
Polymorphism databases
DMDM	212276506.
Proteomic databases
PRIDE	Q9NRM1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000396073; ENSP00000379383; ENSG00000132464.
GeneID	10117.
KEGG	hsa:10117.
Organism-specific databases
CTD	10117.
GeneCards	GC04P071494.
HGNC	HGNC:3344. ENAM.
HPA	HPA037868.
MIM	104500. phenotype. 204650. phenotype. 606585. gene.
neXtProt	NX_Q9NRM1.
Orphanet	100031. Hypoplastic amelogenesis imperfecta.
PharmGKB	PA27781.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19391.
GeneTree	ENSGT00440000037826.
HOGENOM	HBG126578.
HOVERGEN	HBG005585.
InParanoid	Q9NRM1.
OMA	PYYSEEM.
OrthoDB	EOG49P9XP.
PhylomeDB	Q9NRM1.
Gene expression databases
ArrayExpress	Q9NRM1.
Bgee	Q9NRM1.
CleanEx	HS_ENAM.
Genevestigator	Q9NRM1.
GermOnline	ENSG00000132464. Homo sapiens.
Family and domain databases
InterPro	IPR015673. Enamelin. [Graphical view]
PANTHER	PTHR16784. Enamelin. 1 hit.
ProtoNet	Search...
Other
SOURCE	Search...

Entry information

Entry name

ENAM_HUMAN

Accession

Primary (citable) accession number: Q9NRM1
Secondary accession number(s): Q17RI5, Q9H3D1

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	November 4, 2008
Last modified:	January 25, 2012
This is version 90 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.