KEGG   Homo sapiens (human): 10262
Entry
10262             CDS       T01001                                 

Gene name
SF3B4, AFD1, Hsh49, SAP49, SF3b49
Definition
(RefSeq) splicing factor 3b subunit 4
  KO
K12831  splicing factor 3B subunit 4
Organism
hsa  Homo sapiens (human)
Pathway
hsa03040  Spliceosome
Disease
H01376  Acrofacial dysostosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09121 Transcription
   03040 Spliceosome
    10262 (SF3B4)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    10262 (SF3B4)
Spliceosome [BR:hsa03041]
 Complex A
  U2 snRNP components
   U2 snRNP specific factors
    10262 (SF3B4)
 Complex B
    10262 (SF3B4)
 Complex C
   U2 SnRNP specific factors
    10262 (SF3B4)
SSDB
Motif
Pfam: RRM_1 RRM_7 RRM_5 OB_RNB
Other DBs
NCBI-GeneID: 10262
NCBI-ProteinID: NP_005841
OMIM: 605593
HGNC: 10771
Ensembl: ENSG00000143368
Vega: OTTHUMG00000012208
Pharos: Q15427(Tbio)
UniProt: Q15427 B3KUJ0
Structure
PDB: 
5Z58 6AH0 5GVQ 1X5T

Position
1q21.2
AA seq 424 aa
MAAGPISERNQDATVYVGGLDEKVSEPLLWELFLQAGPVVNTHMPKDRVTGQHQGYGFVE
FLSEEDADYAIKIMNMIKLYGKPIRVNKASAHNKNLDVGANIFIGNLDPEIDEKLLYDTF
SAFGVILQTPKIMRDPDTGNSKGYAFINFASFDASDAAIEAMNGQYLCNRPITVSYAFKK
DSKGERHGSAAERLLAAQNPLSQADRPHQLFADAPPPPSAPNPVVSSLGSGLPPPGMPPP
GSFPPPVPPPGALPPGIPPAMPPPPMPPGAAGHGPPSAGTPGAGHPGHGHSHPHPFPPGG
MPHPGMSQMQLAHHGPHGLGHPHAGPPGSGGQPPPRPPPGMPHPGPPPMGMPPRGPPFGS
PMGHPGPMPPHGMRGPPPLMPPHGYTGPPRPPPYGYQRGPLPPPRPTPRPPVPPRGPLRG
PLPQ
NT seq 1275 nt   +upstreamnt  +downstreamnt
atggctgccgggccgatctccgagcggaatcaggatgccactgtgtacgtggggggcctg
gatgagaaggttagtgaaccgctgctgtgggaactgtttctccaggctggaccagtagtc
aacacccacatgccaaaggatagagtcactggccagcaccaaggctatggctttgtggaa
ttcttgagtgaggaagatgctgactatgccattaagatcatgaacatgatcaaactctat
gggaagccaatacgggtgaacaaagcatcagctcacaacaaaaacctggatgtaggggcc
aacattttcattgggaacctggaccctgagattgatgagaagttgctttatgatactttc
agcgcctttggggtcatcttacaaacccccaaaattatgcgggaccctgacacaggcaac
tccaaaggttatgcctttattaattttgcttcatttgatgcttcggatgcagcaattgaa
gccatgaatgggcagtacctctgtaaccgtcctatcaccgtatcttatgccttcaagaag
gactccaagggtgagcgccatggctcagcagccgaacgacttctggcagctcagaacccg
ctctcccaggctgatcgccctcatcagctgtttgcagatgcacctcctccaccctctgct
cccaatcctgtggtatcatcattggggtctgggcttcctccaccaggcatgcctcctcct
ggctccttcccacccccagtgccacctcctggagccctcccacctgggatacccccagcc
atgcccccaccacctatgcctcctggggctgcaggacatggccccccatcggcaggaacc
ccaggggcaggacatcctggtcatggacactcacatcctcacccattcccaccgggtggg
atgccccatccagggatgtctcagatgcagcttgcacaccatggccctcatggcttagga
catccccacgctggacccccaggctctgggggccagccaccgccccgaccaccacctgga
atgcctcatcctggacctcctccaatgggcatgcccccccgagggcctccattcggatct
cccatgggtcacccaggtcctatgcctccgcatggtatgcgtggacctcctccactgatg
cccccccatggatacactggccctccacgacccccaccctatggctaccagcgggggcct
ctccctccacccagacccactccccggccaccagttccccctcgaggcccacttcgaggc
cctctccctcagtaa

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