Amelx amelogenin, X-linked [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Amelxprovided by RGD
Official Full Name: amelogenin, X-linkedprovided by RGD
Primary source: RGD:2107
See related: Ensembl:ENSRNOG00000003965 AllianceGenome:RGD:2107
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Amel; LRAP
Summary: Enables identical protein binding activity. A structural constituent of tooth enamel. Involved in response to calcium ion; response to nutrient; and response to xenobiotic stimulus. Located in Golgi apparatus; endocytic vesicle; and extracellular matrix. Biomarker of autosomal dominant hypocalcemia. Human ortholog(s) of this gene implicated in amelogenesis imperfecta and amelogenesis imperfecta type 1E. Orthologous to several human genes including AMELX (amelogenin X-linked). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Lung (RPKM 9.2), Uterus (RPKM 5.1) and 7 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: Xq13

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	X	NC_086039.1 (28648803..28660099)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	X	NC_051356.1 (25076362..25087660)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	X	NC_005120.4 (26439197..26450495)

Chromosome X - NC_086039.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The aim of this study was to verify the expression, distribution and role of Rho GTPases in ameloblasts and odontoblasts during tooth development in correlation with actin and tubulin arrangements and amelogenin and dentin sialophosphoprotein expression.
Title: GTPases RhoA and Rac1 are important for amelogenin and DSPP expression during differentiation of ameloblasts and odontoblasts.
interactions between collagen and amelogenin might play an important role in the formation of the DEB providing structural continuity between dentin and enamel
Title: Amelogenin-collagen interactions regulate calcium phosphate mineralization in vitro.
This study identified a suppressor element in the promoter region and enhancer elements in intron 1 of amelogenin in HAT-7 and HeLA cells.
Title: Identification of a suppressor element in the amelogenin promoter.
subpopulation of granules containing only ameloblastin could be responsible for augmenting its local concentration along secretory surfaces against which hydroxyapatite crystals actively elongate
Title: Ameloblastin and amelogenin share a common secretory pathway and are co-secreted during enamel formation.
during differentiation, dental epithelial cells utilize a unique mechanism for increasing the production of amelogenin, the reuptake of secreted amelogenin
Title: Reuptake of extracellular amelogenin by dental epithelial cells results in increased levels of amelogenin mRNA through enhanced mRNA stabilization.
developmental regulated expression pattern is enhanced under vitamin-D-deficiency status and in a broader context may play an important role during ameloblast and odontoblast differentiation and function.
Title: Expression of amelogenin in odontoblasts.

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General gene information

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Markers

Amel (e-PCR), detects polymorphism
- UniSTS:141073

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables growth factor activity	ISO Inferred from Sequence Orthology more info
enables hydroxyapatite binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables sodium ion binding	ISO Inferred from Sequence Orthology more info
enables structural constituent of tooth enamel	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of tooth enamel	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of tooth enamel	ISO Inferred from Sequence Orthology more info
enables structural constituent of tooth enamel	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in amelogenesis	ISO Inferred from Sequence Orthology more info
involved_in biomineral tissue development	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in enamel mineralization	IBA Inferred from Biological aspect of Ancestor more info
involved_in enamel mineralization	ISO Inferred from Sequence Orthology more info
involved_in odontogenesis of dentin-containing tooth	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in response to calcium ion	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to nutrient	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to xenobiotic stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in tooth mineralization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in basement membrane	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in collagen-containing extracellular matrix	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in endocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in supramolecular complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: amelogenin, X isoform

Names: amelogenin X chromosome; leucine-rich amelogenin peptide

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001271073.1 → NP_001258002.1 amelogenin, X isoform isoform 2 precursor

See identical proteins and their annotated locations for NP_001258002.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

U60562

UniProtKB/TrEMBL

A6K2E9

Conserved Domains (1) summary

smart00818
Location:28 → 171

Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
NM_001271074.1 → NP_001258003.1 amelogenin, X isoform isoform 1 precursor

See identical proteins and their annotated locations for NP_001258003.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

JAXUCZ010000021

UniProtKB/TrEMBL

A0A8L2UHN6, A6K2E8

Related

ENSRNOP00000048382.2, ENSRNOT00000052176.5

Conserved Domains (1) summary

smart00818
Location:28 → 195

Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
NM_001271075.1 → NP_001258004.1 amelogenin, X isoform isoform 3 precursor

See identical proteins and their annotated locations for NP_001258004.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site at the 5' end of an exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

U60562, U60564

UniProtKB/TrEMBL

A6K2F0, Q63642

Conserved Domains (1) summary

smart00818
Location:18 → 74

Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
NM_001271076.1 → NP_001258005.1 amelogenin, X isoform isoform 4 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

U60562, U60563

UniProtKB/TrEMBL

A0A0G2JT37

Related

ENSRNOP00000068556.1, ENSRNOT00000087268.2

Conserved Domains (1) summary

pfam02948
Location:21 → 47

Amelogenin
NM_001271077.1 → NP_001258006.1 amelogenin, X isoform isoform 6 precursor

See identical proteins and their annotated locations for NP_001258006.1

Status: VALIDATED

Description

Transcript Variant: This variant (6) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (6) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

U60562, U67130

UniProtKB/TrEMBL

A0A8L2UHN6, A6K2F2

Conserved Domains (1) summary

smart00818
Location:28 → 196

Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
NM_001271078.1 → NP_001258007.1 amelogenin, X isoform isoform 7 precursor

See identical proteins and their annotated locations for NP_001258007.1

Status: VALIDATED

Description

Transcript Variant: This variant (7) uses an alternate in-frame splice site at the 5' end of an exon and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (7) lacks an alternate internal segment and has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

U60562, U60564, U67130

UniProtKB/TrEMBL

A6K2F3

Conserved Domains (1) summary

smart00818
Location:18 → 75

Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth
NM_019154.2 → NP_062027.1 amelogenin, X isoform isoform 5 precursor

See identical proteins and their annotated locations for NP_062027.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) contains an alternate in-frame exon and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (5) contains an alternate internal segment and has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

U60562, U67130

UniProtKB/Swiss-Prot

P45559, P63278, Q62945, Q63640, Q78E56

UniProtKB/TrEMBL

A0A8L2UHN6, A6K2F1

Related

ENSRNOP00000069787.2, ENSRNOT00000078843.2

Conserved Domains (1) summary

smart00818
Location:49 → 210

Amelogenin; Amelogenins, cell adhesion proteins, play a role in the biomineralisation of teeth