KEGG   Homo sapiens (human): 54845
Entry
54845             CDS       T01001                                 

Gene name
ESRP1, DFNB109, RBM35A, RMB35A
Definition
(RefSeq) epithelial splicing regulatory protein 1
  KO
K14947  epithelial splicing regulatory protein 1/2
Organism
hsa  Homo sapiens (human)
Disease
H00605  Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    54845 (ESRP1)
Spliceosome [BR:hsa03041]
 Other splicing related proteins
  Spliceosome associated proteins (SAPs)
   Other SAPs
    54845 (ESRP1)
SSDB
Motif
Pfam: RRM_1
Other DBs
NCBI-GeneID: 54845
NCBI-ProteinID: NP_060167
OMIM: 612959
HGNC: 25966
Ensembl: ENSG00000104413
Vega: OTTHUMG00000164587
Pharos: Q6NXG1(Tbio)
UniProt: Q6NXG1
Structure
PDB: 
2RVJ 2DHA

Position
8q22.1
AA seq 681 aa
MTASPDYLVVLFGITAGATGAKLGSDEKELILLFWKVVDLANKKVGQLHEVLVRPDQLEL
TEDCKEETKIDVESLSSASQLDQALRQFNQSVSNELNIGVGTSFCLCTDGQLHVRQILHP
EASKKNVLLPECFYSFFDLRKEFKKCCPGSPDIDKLDVATMTEYLNFEKSSSVSRYGASQ
VEDMGNIILAMISEPYNHRFSDPERVNYKFESGTCSKMELIDDNTVVRARGLPWQSSDQD
IARFFKGLNIAKGGAALCLNAQGRRNGEALVRFVSEEHRDLALQRHKHHMGTRYIEVYKA
TGEDFLKIAGGTSNEVAQFLSKENQVIVRMRGLPFTATAEEVVAFFGQHCPITGGKEGIL
FVTYPDGRPTGDAFVLFACEEYAQNALRKHKDLLGKRYIELFRSTAAEVQQVLNRFSSAP
LIPLPTPPIIPVLPQQFVPPTNVRDCIRLRGLPYAATIEDILDFLGEFATDIRTHGVHMV
LNHQGRPSGDAFIQMKSADRAFMAAQKCHKKNMKDRYVEVFQCSAEEMNFVLMGGTLNRN
GLSPPPCKLPCLSPPSYTFPAPAAVIPTEAAIYQPSVILNPRALQPSTAYYPAGTQLFMN
YTAYYPSPPGSPNSLGYFPTAANLSGVPPQPGTVVRMQGLAYNTGVKEILNFFQGYQYAT
EDGLIHTNDQARTLPKEWVCI
NT seq 2046 nt   +upstreamnt  +downstreamnt
atgacggcctctccggattacttggtggtgctttttgggatcactgctggggccaccggg
gccaagctaggctcggatgagaaggagttgatcctgctgttctggaaagtcgtggatctg
gccaacaagaaggtgggacagttgcacgaagtgctagttagaccggatcagttggaactg
acggaggactgcaaagaagaaactaaaatagacgtcgaaagcctgtcctcggcgtcgcag
ctggaccaagccctccgacagtttaaccagtcagtgagcaatgaactgaatattggagta
gggacttccttctgtctctgtactgatgggcagcttcatgtcaggcaaatcctgcatcct
gaggcttccaagaagaatgtactattacctgaatgcttctattccttttttgatcttcga
aaagaattcaagaaatgttgccctggttcacctgatattgacaaactggacgttgccaca
atgacagagtatttaaattttgagaagagtagttcagtctctcgatatggagcctctcaa
gttgaagatatggggaatataattttagcaatgatttcagagccttataatcacaggttt
tcagatccagagagagtgaattacaagtttgaaagtggaacttgcagcaagatggaactt
attgatgataacaccgtagtcagggcacgaggtttaccatggcagtcttcagatcaagat
attgcaagattcttcaaaggactcaatattgccaagggaggtgcagcactttgtctgaat
gctcagggtcgaaggaacggagaagctctggttaggtttgtaagtgaggagcaccgagac
ctagcactacagaggcacaaacatcacatggggacccggtatattgaggtttacaaagca
acaggtgaagatttccttaaaattgctggtggtacttccaatgaggtagcccagtttctc
tccaaggaaaatcaagtcattgtccgcatgcgggggctccctttcacggccacagctgaa
gaagtggtggccttctttggacagcattgccctattactgggggaaaggaaggcatcctc
tttgtcacctacccagatggtaggccaacaggggacgcttttgtcctctttgcctgtgag
gaatatgcacagaatgcgttgaggaagcataaagacttgttgggtaaaagatacattgaa
ctcttcaggagcacagcagctgaagttcagcaggtgctgaatcgattctcctcggcccct
ctcattccacttccaacccctcccattattccagtactacctcagcaatttgtgccccct
acaaatgttagagactgtatacgccttcgaggtcttccctatgcagccacaattgaggac
atcctggatttcctgggggagttcgccacagatattcgtactcatggggttcacatggtt
ttgaatcaccagggccgcccatcaggagatgcctttatccagatgaagtctgcggacaga
gcatttatggctgcacagaagtgtcataaaaaaaacatgaaggacagatatgttgaagtc
tttcagtgttcagctgaggagatgaactttgtgttaatggggggcactttaaatcgaaat
ggcttatccccaccgccatgtaagttaccatgcctgtctcctccctcctacacatttcca
gctcctgctgcagttattcctacagaagctgccatttaccagccctctgtgattttgaat
ccacgagcactgcagccctccacagcgtactacccagcaggcactcagctcttcatgaat
tacacagcgtactatcccagccccccaggttcgcctaatagtcttggctacttccctaca
gctgctaatcttagcggtgtccctccacagcctggcacggtggtcagaatgcagggcctg
gcctacaatactggagttaaggaaattcttaacttcttccaaggttaccagtatgcaacc
gaggatggacttatacacacaaatgaccaggccaggactctacccaaagaatgggtttgt
atttaa

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