KEGG   Homo sapiens (human): 139285
Entry
139285            CDS       T01001                                 
Symbol
AMER1, FAM123B, OSCS, WTX
Name
(RefSeq) APC membrane recruitment protein 1
  KO
K19407  APC membrane recruitment protein 1
Organism
hsa  Homo sapiens (human)
Disease
H00444  Osteopathia striata with cranial sclerosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09193 Unclassified: signaling and cellular processes
   99992 Structural proteins
    139285 (AMER1)
SSDB
Motif
Pfam: AMER
Other DBs
NCBI-GeneID: 139285
NCBI-ProteinID: NP_689637
OMIM: 300647
HGNC: 26837
Ensembl: ENSG00000184675
UniProt: Q5JTC6
Structure
Position
X:complement(64185117..64205708)
AA seq 1135 aa
METQKDEAAQAKGAAASGSTREQTAEKGAKNKAAEATEGPTSEPSSSGPGRLKKTAMKLF
GGKKGICTLPSFFGGGRSKGSGKGSSKKGLSKSKTHDGLSEAAHGPEDVVSEGTGFSLPL
PELPCQFPSSQSAHGALETGSRCKTSVAGATEKAVAEKFPSMPKPKKGLKGFFSSIRRHR
KSKVTGAEQSEPGAKGPERVRARPHEHVSSAPQVPCFEETFQAPRKENANPQDAPGPKVS
PTPEPSPPATEKMACKDPEKPMEACASAHVQPKPAPEASSLEEPHSPETGEKVVAGEVNP
PNGPVGDPLSLLFGDVTSLKSFDSLTGCGDIIAEQDMDSMTDSMASGGQRANRDGTKRSS
CLVTYQGGGEEMALPDDDDEEEEEEEEVELEEEEEEVKEEEEDDDLEYLWETAQMYPRPN
MNLGYHPTTSPGHHGYMLLDPVRSYPGLAPGELLTPQSDQQESAPNSDEGYYDSTTPGFE
DDSGEALGLVRRDCLPRDSYSGDALYEFYEPDDSLENSPPGDDCLYDLHGRSSEMFDPFL
NFEPFLSSRPPGAMETEEERLVTIQKQLLYWELRREQLEAQEARAREAHAREAHAREAYT
REAYGREAYAREAHTWEAHGREARTREAQAREVRCRETQVRETQARQEKPVLEYQMRPLG
PSVMGLAAGVSGTSQISHRGITSAFPTTASSEPDWRDFRPLEKRYEGTCSKKDQSTCLMQ
LFQSDAMFEPDMQEANFGGSPRRAYPTYSPPEDPEEEEVEKEGNATVSFSQALVEFTSNG
NLFSSMSCSSDSDSSFTQNLPELPPMVTFDIADVERDGEGKCEENPEFHNDEDLAASLEA
FELGYYHKHAFNNYHSRFYQGLPWGVSSLPRYLGLPGLHPRPPPAAMALNRRSRSLDTAE
TLEMELSNSHLVQGYLESDELQAQQEDSDEEDEEEEEGEWSRDSPLSLYTEPPGAYDWPA
WAPCPLPVGPGPAWISPNQLDRPSSQSPYRQATCCIPPMTMSISLSVPESRAPGESGPQL
ARPSHLHLPMGPCYNLQPQASQSMRARPRDVLLPVDEPSCSSSSGGFSPSPLPQAKPVGI
THGIPQLPRVRPEHPQPQPTHYGPSSLDLSKERAEQGASLATSYSSTAMNGNLAK
NT seq 3408 nt   +upstreamnt  +downstreamnt
atggagacccaaaaggatgaagctgctcaggccaagggagctgcagcctctgggagtacc
cgtgaacaaacagcagaaaaaggagccaagaacaaggcagctgaggcgacagaaggacca
acctcagagccatcctcatccggcccaggtaggctgaagaaaactgccatgaaactcttt
ggtggcaagaagggtatctgtactctgcctagtttctttggagggggacggagcaaaggt
tctgggaaaggcagctccaagaaaggtctcagcaagagcaagacccacgatggcctgagt
gaagcagcccatggccctgaagatgttgtcagtgaaggaactggcttctccctgcctttg
cctgagttaccctgccaatttcccagctctcagagtgcccatggggctttggagacaggc
tccagatgtaagacatctgtggctggagccacagagaaagctgtggctgagaagtttccc
tctatgcccaagccaaagaaaggcctaaaaggcttttttagcagtatccgccgtcaccgg
aagagcaaggtcactggggctgagcaaagtgagccaggggccaaggggcctgagagggtc
agagccaggcctcatgagcacgtgagctcagcccctcaggtgccctgctttgaggagacc
ttccaagcccctagaaaggaaaatgctaacccccaagatgcccctgggccaaaagtttct
ccaacaccagaaccttctccaccagctactgagaaaatggcctgtaaagatccagaaaaa
cccatggaggcctgtgcctcagcacatgtgcaacccaagcctgcccctgaagccagtagc
ctagaggagccccatagcccagaaacaggggagaaggtagtagcaggagaggtaaaccca
cccaatggccctgtgggggacccactgagcctcttgtttggggatgtgacatccctgaaa
agctttgattcattgacaggttgtggtgacataatagcagaacaggacatggacagtatg
acagacagcatggcctctgggggccagagagcaaaccgagatgggaccaagcgaagttcc
tgcctggtgacctaccaaggaggtggggaggagatggccttgccagatgatgatgacgag
gaggaagaagaggaagaagaggtggaattagaggaggaagaagaggaggttaaggaggag
gaagaagatgatgacttagaatatctgtgggaaactgcccaaatgtatccacggcccaat
atgaacctgggctaccatcccaccacatccccaggccaccacggctacatgctccttgac
ccagttaggtcttatcctggcctagcccctggggaacttttgactcctcagagtgaccag
caagaatccgcccccaatagtgatgaaggttattatgactccaccacacctggatttgag
gatgattcaggtgaggccctggggcttgtccgcagggattgtctaccccgagacagctac
agtggagatgccctatatgagttctatgagccagatgacagccttgagaactctccacct
ggagatgactgcctttatgacctccatggtcgaagctctgagatgtttgaccccttctta
aactttgagccctttttgtcctcccggccacctggggcaatggagacagaggaagaacgg
ctagtgaccatccagaaacagttgttgtattgggagcttcggcgggagcagcttgaggcc
caggaggcacgtgcccgagaagctcatgccagggaggcccacgccagggaggcctatact
cgagaggcttatggcagggaagcctatgccagggaggcccacacttgggaagctcatggc
agggaggccagaacccgagaagcccaggcccgagaggttcgttgtagagagactcaagtc
cgagagacccaggcccggcaggagaagcccgtcttagagtatcagatgaggcccttaggc
ccatcagtgatgggcctggcagcaggggtatcagggacctctcagatttcccaccgggga
attacctcagctttccccaccactgcaagcagcgagccagactggagggacttccgtcct
ctggagaagcgttatgaaggaacctgctccaagaaagatcaaagtacctgcctgatgcag
ctcttccagagtgatgccatgtttgagccagacatgcaagaagcaaattttggaggatct
cccaggagggcctaccctacttattcaccccctgaagatccagaggaagaggaggttgag
aaggaagggaatgccactgtgagtttctcacaggccctggtagagttcaccagcaatggg
aacctcttttccagcatgtcctgcagctctgactctgactcatctttcactcaaaacctc
cctgagctgcctcccatggtgacctttgacatcgctgatgtggaacgggatggggaaggc
aagtgtgaagagaatcctgagttccacaatgatgaagatcttgcagcctccttggaagcc
tttgagctgggctactatcacaaacatgccttcaacaactaccatagtcgattctaccaa
ggcctgccctggggtgtgagcagcctccctcgatacttgggactgcctggcctgcaccct
cgacctccacctgctgctatggccctcaacaggagaagccgctctctcgacactgcagag
accctggagatggagctctccaattcccacttggtccagggctacctcgagtctgatgag
ctgcaggcccagcaggaagattcagatgaggaggacgaagaggaggaagaaggagaatgg
agccgagacagtcccctttccctctatactgaacccccaggggcctatgattggcctgct
tgggctccctgtcctcttccagtggggccaggtcctgcctggataagccccaaccagttg
gacaggccttccagccagtctccatataggcaggcaacctgttgcatacctcctatgacc
atgtcaatatcactatcagtgccagagtcaagggcacctggggaatctgggcctcaacta
gctcgtccctcacacctacacctgcccatgggcccttgctataacctccagccacaggcc
tcccagagcatgagggccaggcctcgagatgtgctgctgcctgttgatgagcccagttgc
tcttccagttctggaggcttcagccccagccctctaccacaggccaagcctgtgggcatc
acccatggcattcctcagctgcccagggtccggcctgagcacccccagcctcagcccact
cactatgggccttccagccttgacctgtcaaaggagagggctgagcaaggtgcctctctt
gccaccagctactcctccactgccatgaatggaaacctagccaagtag

  All links  
Disease (2)   
   OMIM (2)   
Gene (29)   
   RefGene (24)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (9)   
   RefSeq(nuc) (1)   
   GenBank (4)   
   EMBL (4)   
3D Structure (3)   
   PDB (3)   
Protein domain (1)   
   Pfam (1)   
All databases (47)   

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