Homo sapiens (human): 9949
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Entry
9949 CDS
T01001
Symbol
AMMECR1, AMMERC1, MFHIEN
Name
(RefSeq) AMMECR nuclear protein 1
KO
K24611
AMME syndrome candidate gene 1 protein
Organism
hsa
Homo sapiens (human)
Disease
H02383
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09190 Not Included in Pathway or Brite
09193 Unclassified: signaling and cellular processes
99995 Signaling proteins
9949 (AMMECR1)
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GFIT
Motif
Pfam:
AMMECR1
Motif
Other DBs
NCBI-GeneID:
9949
NCBI-ProteinID:
NP_056180
OMIM:
300195
HGNC:
467
Ensembl:
ENSG00000101935
UniProt:
Q9Y4X0
A0A0S2Z4X0
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Position
X:complement(110194186..110440233)
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AA seq
333 aa
AA seq
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MAAGCCGVKKQKLSSSPPSGSGGGGGASSSSHCSGESQCRAGELGLGGAGTRLNGLGGLT
GGGSGSGCTLSPPQGCGGGGGGIALSPPPSCGVGTLLSTPAAATSSSPSSSSAASSSSPG
SRKMVVSAEMCCFCFDVLYCHLYGYQQPRTPRFTNEPYPLFVTWKIGRDKRLRGCIGTFS
AMNLHSGLREYTLTSALKDSRFPPMTRDELPRLFCSVSLLTNFEDVCDYLDWEVGVHGIR
IEFINEKGSKRTATYLPEVAKEQGWDHIQTIDSLLRKGGYKAPITNEFRKTIKLTRYRSE
KMTLSYAEYLAHRQHHHFQNGIGHPLPPYNHYS
NT seq
1002 nt
NT seq
+upstream
nt +downstream
nt
atggcggcgggttgctgcggggtgaagaagcagaaactgtccagttcgcccccctctggc
tcgggtggcggtggtggcgcctcctcctcctcccactgcagcggagagagccagtgccga
gctggggagctgggactaggaggcgccggtacgcggctcaacgggctgggaggtctaacc
ggaggaggtagcggcagcggctgtaccctctctcccccccagggctgcggcggcggcggc
ggggggatcgccctgtcgccacctccgagctgcggagtggggaccctactttctaccccg
gccgccgccacctcttcctcaccctcctcatcgtccgccgcctcgtcctcatcgccgggc
tcccggaagatggtggtgtcagcagagatgtgctgcttttgcttcgatgtgctctactgt
cacctgtatggataccagcagccccggaccccccgattcaccaacgagccctacccactg
tttgtaacatggaagattggtcgagacaaaagattacgtggatgcataggtactttttct
gccatgaatttgcattcaggactcagggagtacacacttaccagtgcccttaaagatagc
cgttttcccccaatgacaagggatgagctgccacggcttttctgctcagtgtctctgctc
actaactttgaagatgtctgtgattatttggactgggaggtgggtgtacatggcattaga
atagaattcatcaatgaaaaaggatcaaaacgcaccgccacctacctaccggaggttgca
aaggagcaaggatgggaccatatacagaccatagactccttattgaggaaaggaggatac
aaagctccgattactaatgaattcaggaaaaccataaaactgaccaggtatcgtagtgaa
aagatgaccctgagctatgctgaataccttgctcatcgccagcatcatcatttccaaaat
ggcattgggcatccccttccgccatacaaccattattcctga
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