AMMECR1
entrez
9949
canonical
uniprot
Q9Y4X0
canonical
ensembl
ENSG00000101935
resolver
ensp
ENSP00000262844
resolver
ensp
ENSP00000361127
resolver
ensp
ENSP00000361129
resolver
genesymbol
AMMECR1
resolver
hgnc
HGNC:467
resolver
uniprot
A0A0S2Z4V0
resolver
uniprot
A0A0S2Z4X0
resolver
uniprot
Q5JYV9
resolver
uniprot
Q6P9D8
resolver
uniprot
Q8WX22
resolver
uniprot
Q9UIQ8
resolver
uniprot_entry
A0A0S2Z4V0_HUMAN
resolver
uniprot_entry
A0A0S2Z4X0_HUMAN
resolver
uniprot_entry
AMMR1_HUMAN
resolver
uniprot_sec
Q5JYV9
resolver
uniprot_sec
Q6P9D8
resolver
uniprot_sec
Q8WX22
resolver
uniprot_sec
Q9UIQ8
resolver
amino_acid_sequence
MAAGCCGVKKQKLSSSPPSGSGGGGGASSSSHCSGESQCRAGELGLGGAGTRLNGLGGLTGGGSGSGCTLSPPQGCGGGGGGIALSPPPSCGVGTLLSTPAAATSSSPSSSSAASSSSPGSRKMVVSAEMCCFCFDVLYCHLYGYQQPRTPRFTNEPYPLFVTWKIGRDKRLRGCIGTFSAMNLHSGLREYTLTSALKDSRFPPMTRDELPRLFCSVSLLTNFEDVCDYLDWEVGVHGIRIEFINEKGSKRTATYLPEVAKEQGWDHIQTIDSLLRKGGYKAPITNEFRKTIKLTRYRSEKMTLSYAEYLAHRQHHHFQNGIGHPLPPYNHYS
uniprot
proteins
disease_involvement
DISEASE: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) [MIM:300990]: An X-linked recessive disorder with onset in early childhood, characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. Variable clinical features include anemia, and mild early motor or speech delay. {ECO:0000269|PubMed:27811305, ECO:0000269|PubMed:28089922}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: AMME complex (ATS-MR) [MIM:300194]: An X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, intellectual disability, midface hypoplasia and elliptocytosis. {ECO:0000269|PubMed:10049589}. Note=The gene represented in this entry may be involved in disease pathogenesis.
uniprot
proteins
mass_dalton
35463
uniprot
proteins
pubmed
10049589
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27811305
uniprot
proteins
pubmed
28089922
uniprot
proteins
sequence_length
333
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27811305}.
uniprot
proteins