• Gene id: 9949

Gene Summary

• Gene Symbol: AMMECR1   Gene   UCSC   Ensembl
• Aliases: AMMERC1, MFHIEN
• Gene name: AMMECR nuclear protein 1
• Alternate names: AMME syndrome candidate gene 1 protein, Alport syndrome mental retardation midface hypoplasia and elliptocytosis chromosomal region protein 1, Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1,
• Gene location: Xq23 (110440232: 110194185)     Exons: 8     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 606880

Protein Summary

• Protein general information: Q9Y4X0  
  • Name: AMME syndrome candidate gene 1 protein
  • Length: 333  
  • Mass: 35463
• Sequence:

  MAAGCCGVKKQKLSSSPPSGSGGGGGASSSSHCSGESQCRAGELGLGGAGTRLNGLGGLTGGGSGSGCTLSPPQG
  CGGGGGGIALSPPPSCGVGTLLSTPAAATSSSPSSSSAASSSSPGSRKMVVSAEMCCFCFDVLYCHLYGYQQPRT
  PRFTNEPYPLFVTWKIGRDKRLRGCIGTFSAMNLHSGLREYTLTSALKDSRFPPMTRDELPRLFCSVSLLTNFED
  VCDYLDWEVGVHGIRIEFINEKGSKRTATYLPEVAKEQGWDHIQTIDSLLRKGGYKAPITNEFRKTIKLTRYRSE
  KMTLSYAEYLAHRQHHHFQNGIGHPLPPYNHYS

• Structural information:
  • Protein Domains: (119..31-)
    (/note="AMMECR1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00467"-)
  • Interpro: IPR023473  IPR036071  IPR002733  IPR027485  
  • Prosite: PS51112
  • STRING: ENSP00000262844
• Other Databases: GeneCards:  AMMECR1  Malacards:  AMMECR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	KEGG:H02383
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	KEGG:H02383
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881