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AMMECR1 - AMMECR nuclear protein 1 Gene

Also Known as MFHIEN; AMMERC1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9949

About AMMECR1

Cytogenetic location: Xq23 Genomic coordinates (GRCh38): X:110,194,186-110,440,233 (from NCBI)

This gene has 8 transcripts (splice variants), 209 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 5.1), esophagus (RPKM 4.2) and 24 other tissues.

Summary

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

AMMECR1 Products (3)

mRNA	Protein	Name
NM_001025580.2	NP_001020751.1	nuclear protein AMMECR1 isoform 2
NM_001171689.2	NP_001165160.1	nuclear protein AMMECR1 isoform 3
NM_015365.3	NP_056180.1	nuclear protein AMMECR1 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21304492	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	27811305	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AMMECR1 Protein Structure

AMMECR1

0
100
200
300
333 a.a.

Protein Preferred Names	Protein Names
nuclear protein AMMECR1	AMME syndrome candidate gene 1 protein

AMMECR1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AMMECR1	Q9Y4X0	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	26871637
Intra	AMMECR1	Q9Y4X0	KRTAP10-8	Homo sapiens	P60410	Validated Y2H	26871637
Intra	AMMECR1	Q9Y4X0	KRTAP10-8	Homo sapiens	P60410	Y2H Array	26871637
Intra	AMMECR1	Q9Y4X0	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Prey Pooling	25416956
Intra	AMMECR1	Q9Y4X0	ADAMTSL4	Homo sapiens	Q6UY14-3	Validated Y2H	25416956
Intra	AMMECR1	Q9Y4X0	TRIM27	Homo sapiens	P14373	Y2H Prey Pooling	26871637
Intra	AMMECR1	Q9Y4X0	TRIM27	Homo sapiens	P14373	Validated Y2H	26871637
Intra	AMMECR1	Q9Y4X0	TRIM27	Homo sapiens	P14373	Y2H Array	26871637
Intra	AMMECR1	Q9Y4X0	CALCOCO2	Homo sapiens	Q13137	Validated Y2H	25416956
Intra	AMMECR1	Q9Y4X0	CALCOCO2	Homo sapiens	Q13137	Y2H Array	25416956
Intra	AMMECR1	Q9Y4X0	CALCOCO2	Homo sapiens	Q13137	Y2H Prey Pooling	25416956
Intra	AMMECR1	Q9Y4X0	EFEMP2	Homo sapiens	O95967	Y2H Prey Pooling	26871637
Intra	AMMECR1	Q9Y4X0	EFEMP2	Homo sapiens	O95967	Validated Y2H	26871637
Intra	AMMECR1	Q9Y4X0	EFEMP2	Homo sapiens	O95967	Y2H Array	26871637
Intra	AMMECR1	Q9Y4X0	LRP6	Homo sapiens	O75581	Anti Bait CoIP	21304492
Intra	AMMECR1	Q9Y4X0	LRP6	Homo sapiens	O75581	Anti Tag CoIP	21304492
Cross	AMMECR1	Q9Y4X0	Axin1	Rattus norvegicus	O70239	Anti Tag CoIP	21304492
Cross	AMMECR1	Q9Y4X0	csnk1g1	Crosspus laevis	Q6NRT0	Anti Tag CoIP	21304492

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	MFHIEN
Amme Complex	Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis ATS-MR Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome Chromosome Xq22.3 Telomeric Deletion Syndrome Amme Syndrome Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis
Alport Syndrome	Hereditary Nephritis Alport Syndrome, X-Linked Hemorrhagic Hereditary Nephritis Congenital Hereditary Hematuria Hemorrhagic Familial Nephritis Familial Nephritis Thin Basement Membrane Disease Thin Basement Membrane Nephropathy Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Alport Deafness-Nephropathy Alport Hearing Loss-Nephropathy Alports Syndrome Nephritis, Hereditary
Capillary Malformations, Congenital	Familial Multiple Nevi Flammei Nevi Flammei, Familial Multiple CMC Port-Wine Stain Capillary Malformations Cmal Familial Multiple Port-Wine Stains Capillary Malformation Capillary Malformations, Congenital, 1, Somatic, Mosaic Congenital Capillary Malformations Port-Wine Stain Familial Multiple Hereditary Capillary Malformations Capillary Malformations, Hereditary Capillary Malformations, Congenital, Type 1, Somatic, Mosaic Strawberry Nevus Of Skin Naevus Flammeus
Cleft Soft Palate	Cleft Velum Cleft Velum Palatinum Soft Cleft Palate Soft Palate Perforation
Opitz-Kaveggia Syndrome	Fg Syndrome Fgs1 Fgs Keller Syndrome OKS Fg Syndrome 1 Fg Syndrome Type 1 Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Wagr Syndrome 11p Partial Monosomy Syndrome Chromosome 11p13 Deletion Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome 11p Deletion Syndrome Chromosome 11p Deletion Syndrome Wagr Complex Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome Deletion 11p13 WAGR Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Chromosome 11p Deletion 11p Deletion 11p Monosomy Deletion 11p Monosomy 11p Partial Monosomy 11p Agr Triad Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome Wagr Contiguous Gene Syndrome Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome Del(11)(P13) Monosomy 11p13 Chromosome 11, Deletion 11p
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00660	AMMECR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	AMMECR1	RGD	RGD:1561004
Mus musculus	AMMECR1	MGD	MGI:1860206
Macaca mulatta	AMMECR1	VGNC	VGNC:96555
Bos taurus	AMMECR1	VGNC	VGNC:96541
Canis familiaris	AMMECR1	VGNC	VGNC:81778
Others	AMMECR1	NCBI