KEGG   Homo sapiens (human): 27125Help
Entry
27125             CDS       T01001                                 

Gene name
AFF4, AF5Q31, CHOPS, MCEF
Definition
(RefSeq) AF4/FMR2 family member 4
  KO
K15185  AF4/FMR2 family member 4
Organism
hsa  Homo sapiens (human)
Disease
H01569  CHOPS syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03021 Transcription machinery [BR:hsa03021]
    27125 (AFF4)
Transcription machinery [BR:hsa03021]
 Eukaryotic type
  RNA polymerase II system
   Other transcription-related factors
    Super elongation complex (SEC)
     27125 (AFF4)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: AF-4 Peptidase_S64
Motif
Other DBs
NCBI-GeneID: 27125
NCBI-ProteinID: NP_055238
OMIM: 604417
HGNC: 17869
Ensembl: ENSG00000072364
Vega: OTTHUMG00000059838
Pharos: Q9UHB7(Tbio)
UniProt: Q9UHB7
Structure
PDB: 

Position
5q31.1
AA seq 1163 aa AA seqDB search
MNREDRNVLRMKERERRNQEIQQGEDAFPPSSPLFAEPYKVTSKEDKLSSRIQSMLGNYD
EMKDFIGDRSIPKLVAIPKPTVPPSADEKSNPNFFEQRHGGSHQSSKWTPVGPAPSTSQS
QKRSSGLQSGHSSQRTSAGSSSGTNSSGQRHDRESYNNSGSSSRKKGQHGSEHSKSRSSS
PGKPQAVSSLNSSHSRSHGNDHHSKEHQRSKSPRDPDANWDSPSRVPFSSGQHSTQSFPP
SLMSKSNSMLQKPTAYVRPMDGQESMEPKLSSEHYSSQSHGNSMTELKPSSKAHLTKLKI
PSQPLDASASGDVSCVDEILKEMTHSWPPPLTAIHTPCKTEPSKFPFPTKESQQSNFGTG
EQKRYNPSKTSNGHQSKSMLKDDLKLSSSEDSDGEQDCDKTMPRSTPGSNSEPSHHNSEG
ADNSRDDSSSHSGSESSSGSDSESESSSSDSEANEPSQSASPEPEPPPTNKWQLDNWLNK
VNPHKVSPASSVDSNIPSSQGYKKEGREQGTGNSYTDTSGPKETSSATPGRDSKTIQKGS
ESGRGRQKSPAQSDSTTQRRTVGKKQPKKAEKAAAEEPRGGLKIESETPVDLASSMPSSR
HKAATKGSRKPNIKKESKSSPRPTAEKKKYKSTSKSSQKSREIIETDTSSSDSDESESLP
PSSQTPKYPESNRTPVKPSSVEEEDSFFRQRMFSPMEEKELLSPLSEPDDRYPLIVKIDL
NLLTRIPGKPYKETEPPKGEKKNVPEKHTREAQKQASEKVSNKGKRKHKNEDDNRASESK
KPKTEDKNSAGHKPSSNRESSKQSAAKEKDLLPSPAGPVPSKDPKTEHGSRKRTISQSSS
LKSSSNSNKETSGSSKNSSSTSKQKKTEGKTSSSSKEVKEKAPSSSSNCPPSAPTLDSSK
PRRTKLVFDDRNYSADHYLQEAKKLKHNADALSDRFEKAVYYLDAVVSFIECGNALEKNA
QESKSPFPMYSETVDLIKYTMKLKNYLAPDATAADKRLTVLCLRCESLLYLRLFKLKKEN
ALKYSKTLTEHLKNSYNNSQAPSPGLGSKAVGMPSPVSPKLSPGNSGNYSSGASSASASG
SSVTIPQKIHQMAASYVQVTSNFLYATEIWDQAEQLSKEQKEFFAELDKVMGPLIFNASI
MTDLVRYTRQGLHWLRQDAKLIS
NT seq 3492 nt NT seq  +upstreamnt  +downstreamnt
atgaaccgtgaagaccggaatgtgctgcgtatgaaagaacgggaaaggcggaatcaggaa
attcagcagggcgaagacgccttcccacctagctctcctctctttgcagagccatacaaa
gttactagcaaagaagataagttatcaagtcgtattcagagtatgcttggaaactacgat
gaaatgaaggatttcataggagacagatctataccaaagcttgttgcaattcccaagcct
acagtaccaccatcagcagatgaaaaatctaacccaaatttctttgaacagagacatgga
ggctctcatcagagtagcaaatggactccagtaggacccgcacccagcacttctcagtct
cagaaacggtcctcaggcttacagagtggacatagtagccagcggaccagcgcaggtagc
agtagtggcactaacagtagtggtcagaggcacgaccgtgagtcatataacaatagtggg
agcagtagccggaaaaaaggccagcatggatcagaacactccaaatcacgttcttccagc
cctggaaaaccccaggctgtttcttcattaaactctagtcattccaggtctcatgggaat
gatcaccatagcaaggaacatcaacgctccaaatcacctcgggaccctgatgcaaactgg
gattctccttcccgtgtacctttttcaagtgggcagcactcaactcaatctttcccaccc
tcattgatgtcaaagtccaattcaatgttacagaaacccactgcctatgtgcggcccatg
gacggacaggagtccatggaaccaaagctgtcctctgagcactacagcagccaatcccat
ggcaacagcatgactgagctgaagcccagcagcaaagcacatctcaccaagctgaaaata
ccttcccaaccactggatgcatcagcttctggtgatgtgagctgtgtggatgaaatccta
aaagagatgacgcattcatggcctccccctctaacggctattcatacaccatgcaaaaca
gaaccttccaaatttccttttccaactaaggagtctcagcagtccaattttggcactgga
gaacaaaaaagatataatccttctaaaacttcaaatgggcaccagtctaaatctatgtta
aaagatgacttaaaactaagcagcagtgaagacagtgatggggaacaggattgtgataag
acaatgccgaggagtacaccaggaagtaactctgaaccttcacaccataatagtgaagga
gcagataactccagggatgattctagtagccacagtggatctgaaagcagctctggatct
gactcagagagtgaaagtagttccagtgacagtgaggcaaatgagccatcccagagtgca
tctcccgagcctgaacccccgccaacaaacaaatggcaacttgataattggctgaataaa
gtgaacccacataaagtgtcacccgcctcttcagtggacagtaacatcccatcatctcaa
ggctacaaaaaggaaggccgagagcagggcactgggaatagctacactgatacaagtgga
cctaaagaaacgagttccgctactccgggacgagactccaaaaccatccaaaagggatca
gaaagtgggcgtgggaggcagaaatctcctgcacagagtgacagcacaacacagagaaga
actgtaggcaaaaaacaacccaaaaaggctgagaaggcagctgctgaagagcctcgtgga
ggcctgaagatagaaagtgaaacccctgtagacttggctagcagcatgccctccagcaga
cacaaagcagccaccaaaggctcaaggaaacccaatataaagaaggagtctaagtcttcc
cctcgacctacagcagagaaaaagaaatataagtcaacaagtaaatcttcccagaaatca
agggaaatcatagaaacagatacctcatcctcagattcagatgaaagtgagagccttcct
ccttcctcacaaactcctaagtaccccgagagcaataggactcctgttaaaccctcctca
gtggaggaagaagatagcttttttcggcaacgaatgttctctcctatggaagagaaggaa
cttctttcacccctcagtgagcctgatgacaggtacccacttattgtgaagattgacctg
aatcttttgactagaataccaggaaagccttacaaagaaacagagccgcccaagggggaa
aagaaaaatgtgccagaaaagcacacgagagaggctcagaaacaagcctcagaaaaagtt
tccaacaaaggcaagaggaagcataagaatgaagatgataaccgagccagtgagagcaag
aaacccaaaacggaggacaagaattcagcaggccataagccatccagcaacagagagtca
tctaagcagagtgctgcaaaagaaaaggatttgttgccttctcccgctgggcctgttcct
tcaaaagatccaaaaacagagcatggctctcggaagaggactattagtcagtcttcttcc
ttaaagtcaagcagtaacagcaacaaggagacgagtggcagcagcaaaaacagttcctcc
acatcaaagcagaagaagaccgaagggaagacttccagtagctccaaggaggttaaggaa
aaggctccaagtagctcctctaactgtcctccatctgcaccaactcttgattcttctaag
cctcggagaacaaagcttgtctttgatgacagaaattattcagcagaccattatttacaa
gaagcaaaaaagctaaagcacaatgcagatgcattgtctgataggtttgagaaagctgta
tactatcttgatgctgtggtatctttcattgaatgtgggaatgcattagagaagaatgct
caggaatccaaatccccattccctatgtattcagagacggtggatctcatcaaatacact
atgaagctaaagaattacttggcaccagatgctacagctgcagataaacgactcacagta
ctttgcctgcgatgcgagtctttgctgtacctgaggctgttcaaactgaagaaggaaaat
gctctgaagtactcaaagacactgacagagcacctgaagaattcttataataattctcaa
gcaccatcgcctggcttgggaagcaaagctgtggggatgccttcccctgtttctccaaag
ctgtcaccaggcaattcaggaaattattcatctggggccagtagtgcttctgcaagtggt
tcttcagtgaccattccacagaagatccaccagatggcagccagctatgttcaggtcaca
tccaacttcctctatgccaccgaaatttgggaccaagctgaacagctttccaaagagcaa
aaagaattctttgctgaactggataaagtaatgggccctctcatctttaatgcaagcatc
atgacagatctagttcgttatacccggcagggactgcactggcttcgccaggatgccaag
ttgatatcttga

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