KEGG   Homo sapiens (human): 54845
Entry
54845             CDS       T01001                                 
Symbol
ESRP1, DFNB109, RBM35A, RMB35A
Name
(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
UniProt: Q6NXG1
Structure
Position
8:94641174..94707466
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (11)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (9)   
DNA sequence (37)   
   RefSeq(nuc) (9)   
   GenBank (14)   
   EMBL (14)   
3D Structure (5)   
   PDB (5)   
Protein domain (1)   
   Pfam (1)   
All databases (72)   

Download RDF
DBGET integrated database retrieval system