KEGG   Homo sapiens (human): 84173
Entry
84173             CDS       T01001                                 
Symbol
ELMOD3, DFNA81, DFNB88, LST3, RBED1, RBM29
Name
(RefSeq) ELMO domain containing 3
  KO
K23538  ELMO domain-containing protein
Organism
hsa  Homo sapiens (human)
Disease
H00604  Deafness, autosomal dominant
H00605  Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    84173 (ELMOD3)
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    84173 (ELMOD3)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Arf GTPases and associated proteins
   Arf associated proteins
    84173 (ELMOD3)
Cilium and associated proteins [BR:hsa03037]
 Other cilia and associated proteins
  Stereociliary proteins
   84173 (ELMOD3)
SSDB
Motif
Pfam: ELMO_CED12
Other DBs
NCBI-GeneID: 84173
NCBI-ProteinID: NP_001128493
OMIM: 615427
HGNC: 26158
Ensembl: ENSG00000115459
UniProt: Q96FG2
LinkDB
Position
2:85354769..85391748
AA seq 381 aa
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEA
YEWEPRVVSTEVVRAQEEWEAVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFK
KRIQPTIRRTGLAALRHYLFGPPKLHQRLREERDLVLTIAQCGLDSQDPVHGRVLQTIYK
KLTGSKFDCALHGNHWEDLGFQGANPATDLRGAGFLALLHLLYLVMDSKTLPMAQEIFRL
SRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKVIPVVNSFYAATFLHLAHVWR
TQRKTISDSGFVLKELEVLAKKSPRRLLKTLELYLARVSKGQASLLGAQKCYGPEAPPFK
DLTFTGESDLQSHSSEGVWLI
NT seq 1146 nt   +upstreamnt  +downstreamnt
atgaatgaaaaatcttgctctttccatagtaaagaagaattaagagatggacagggtgaa
agattgtctgctggatattctccatcatatgacaaggacaagagtgttctggctttcaga
ggaatccctatctcagagttgaagaaccatggcattctccaggctctgaccacagaagct
tatgaatgggagccacgtgttgtgagtacagaggtggtcagagcccaagaagaatgggaa
gctgtggacaccatccagccagagacagggagccaagctagctcagagcagcctgggcag
ctaatctccttcagtgaggccctgcagcacttccagactgtggacctttcccccttcaag
aaaagaatccagccaactattcgaaggactgggctcgccgccctccgacactacctcttc
gggcctccaaagctccaccagcgccttcgggaagaaagggacttggtcctgaccattgct
cagtgtggcctggatagccaagacccagtgcatggccgagtcctccagaccatctataag
aagctgaccggctccaagtttgactgtgcccttcatggaaaccactgggaggacctgggc
tttcagggagcgaatccagccacagacctgagaggcgcaggcttccttgccctcctgcat
ctgctctacctggtgatggactcaaagaccttgccgatggcgcaggagattttccgcctg
tctcgtcaccacatccagcaattccctttctgtttgatgtccgtgaacatcacccacatt
gccatccaggccttgagagaggagtgtctctccagagagtgtaatcggcagcagaaggtc
atccccgtggtgaacagcttctatgccgccacattcctccacctcgcacatgtctggagg
acacagcggaagaccatctcagactcgggctttgtcctcaaagagttggaagtattggcc
aagaagagcccacggcggctgctcaagaccctggagctgtacttggccagggtgtcaaag
ggacaggcctccttgttgggagcacagaagtgctatgggccagaagcccctcccttcaag
gatctcaccttcacaggtgagagtgacctgcagtctcactcatccgaaggcgtatggctg
atctga

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