AMMECR1 (Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region, gene 1)

Identity

Other names	AMMERC1
Hugo	AMMECR1
Location	Xq22.3
Note	Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

External links

	Nomenclature
Hugo	AMMECR1
GDB	AMMECR1
Entrez_Gene	AMMECR1  9949  Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region, gene 1
	Cards
GeneCards	AMMECR1
Ensembl	AMMECR1 [Search_View]   ENSG00000101935 [Gene_View]
Genatlas	AMMECR1
GeneLynx	AMMECR1
eGenome	AMMECR1
euGene	9949
	Genomic and cartography
GoldenPath	AMMECR1  -  Xq22.3   chrX:109324071-109448036 -  Xq22.3    (hg18-March_2006)
Ensembl	AMMECR1 - Xq22.3 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	AMMECR1
	Gene and transcription
Genbank	AJ007014 [ ENTREZ ]
Genbank	AK001703 [ ENTREZ ]
Genbank	AK023637 [ ENTREZ ]
Genbank	AK055321 [ ENTREZ ]
Genbank	AK091430 [ ENTREZ ]
RefSeq	NM_001025580 [ SRS ]    NM_001025580 [ ENTREZ ]
RefSeq	NM_015365 [ SRS ]    NM_015365 [ ENTREZ ]
RefSeq	AC_000066 [ SRS ]    AC_000066 [ ENTREZ ]
RefSeq	NC_000023 [ SRS ]    NC_000023 [ ENTREZ ]
RefSeq	NT_011651 [ SRS ]    NT_011651 [ ENTREZ ]
RefSeq	NW_927717 [ SRS ]    NW_927717 [ ENTREZ ]
AceView	AMMECR1 AceView - NCBI
Unigene	Hs.656243 [ SRS ]    Hs.656243 [ NCBI ]     HS656243 [ spliceNest ]
Fast-db	13673 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q9Y4X0 [ SRS]    Q9Y4X0 [ EXPASY ]     Q9Y4X0 [ INTERPRO ]
Prosite	PS51112 AMMECR1 [ SRS ]    PS51112 AMMECR1 [ Expasy ]
Interpro	IPR002733 AMMECR1 [ SRS ]    IPR002733 AMMECR1 [ EBI ]
CluSTr	Q9Y4X0
Pfam	PF01871 AMMECR1 [ SRS ]    PF01871 AMMECR1 [ Sanger ]    pfam01871 [ NCBI-CDD ]
Prodom	PD009671 DUF51[INRA-Toulouse]
Prodom	Q9Y4X0 AMER1_HUMAN [ Domain structure ]   Q9Y4X0 AMER1_HUMAN  [ sequences sharing at least 1 domain ]
Blocks	Q9Y4X0
HPRD	02182
	Protein Interaction databases
DIP	Q9Y4X0
IntAct	Q9Y4X0
	Polymorphism : SNP, mutations, diseases
OMIM	300194;300195    [ map ]
GENECLINICS	300194;300195
SNP	AMMECR1 [dbSNP-NCBI]
SNP	NM_001025580 [SNP-NCI]
SNP	NM_015365 [SNP-NCI]
SNP	AMMECR1 [GeneSNPs - Utah]  AMMECR1] [HGBASE - SRS]
HAPMAP	AMMECR1 [HAPMAP]
COSMIC	AMMECR1 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	AMMECR1
	General knowledge
Family Browser	AMMECR1 [UCSC Family Browser]
SOURCE	NM_001025580
SOURCE	NM_015365
SMD	Hs.656243
SAGE	Hs.656243
GO	molecular_function [Amigo]  molecular_function
GO	cellular_component [Amigo]  cellular_component
GO	biological_process [Amigo]  biological_process
PubGene	AMMECR1
	Other databases
	Probes
Probe	AMMECR1 Related clones (RZPD - Berlin)
	PubMed
PubMed	7 Pubmed reference(s) in LocusLink

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

BiblioGene - INIST
Search in all EBI   NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Thu Apr 17 08:40:06 2008