Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4299
Gene name Gene Name - the full gene name approved by the HGNC.
ALF transcription elongation factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AFF1
Synonyms (NCBI Gene) Gene synonyms aliases
AF4, FEL, MLLT2, PBM1
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q21.3-q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia.
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006588 hsa-miR-221-3p qRT-PCR, Luciferase reporter assay, Western blot 19749093
MIRT039920 hsa-miR-615-3p CLASH 23622248
MIRT037336 hsa-miR-877-5p CLASH 23622248
MIRT524998 hsa-miR-8485 HITS-CLIP 19536157
MIRT524997 hsa-miR-329-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21729782, 22190034, 23260655
GO:0008023 Component Transcription elongation factor complex IDA 22195968
GO:0010468 Process Regulation of gene expression IBA 21873635
GO:0032783 Component Super elongation complex IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
159557 7135 ENSG00000172493
Protein
UniProt ID P51825
Protein name AF4/FMR2 family member 1 (ALL1-fused gene from chromosome 4 protein) (Protein AF-4) (Protein FEL) (Proto-oncogene AF4)
PDB 2LM0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05110 AF-4 8 520 Family
PF18875 AF4_int 761 775 AF4 interaction motif Motif
PF18876 AF-4_C 948 1210 AF-4 proto-oncoprotein C-terminal region Family
Sequence
MAAQSSLYNDDRNLLRIREKERRNQEAHQEKEAFPEKIPLFGEPYKTAKGDELSSRIQNM
LGNYEEVKEFLSTKSHTHRLDASENRLGKPKYPLIPDKGSSIPSSSFHTSVHHQSIHTPA
SGPLSVGNISHNPKMAQPRTEPMPSLHAKSCGPPDSQHLTQDRLGQEGFGSSHHKKGDRR
ADGDHCASVTDSAPERELSPLISLPSPVPPLSPIHSNQQTLPRTQGSSKVHGSSNNSKGY
CPAKSPKDLAVKVHDKETPQDSLVAPAQPPSQTFPPPSLPSKSVAMQQKPTAYVRPMDGQ
DQAPSESPELKPLPEDYRQQTFEKTDLKVPAKAKLTKLKMPSQSVEQTYSNEVHCVEEIL
KEMTHSWPPPLTAIHTPSTAEPSKFPFPTKDSQHVSSVTQNQKQYDTSSKTHSNSQQGTS
SMLEDDLQLSDSEDSDSEQTPEKPPSSSAPPSAPQSLPEPVASAHSSSAESESTSDSDSS
SDSESESSSSDSEENEPLETPAPEPEPPTTNKWQLDNWLT
KVSQPAAPPEGPRSTEPPRR
HPESKGSSDSATSQEHSESKDPPPKSSSKAPRAPPEAPHPGKRSCQKSPAQQEPPQRQTV
GTKQPKKPVKASARAGSRTSLQGEREPGLLPYGSRDQTSKDKPKVKTKGRPRAAASNEPK
PAVPPSSEKKKHKSSLPAPSKALSGPEPAKDNVEDRTPEHFALVPLTESQGPPHSGSGSR
TSGCRQAVVVQEDSRKDRLPLPLRDTKLLSPLRDTPPPQSLMVKITLDLLSRIPQPPGKG
SRQRKAEDKQPPAGKKHSSEKRSSDSSSKLAKKRKGEAERDCDNKKIRLEKEIKSQSSSS
SSSHKESSKTKPSRPSSQSSKKEMLPPPPVSSSSQKPAKPALKRSRREADTCGQDPPKSA
SSTKSNHKDSSIPKQRRVEGKGSRSSSEHKGSSGDTANPFPVPSLPNGNSKPGKPQVKFD
KQQADLHMREAKKMKQKAELMTDRVGKAFKYLEAVLSFIECGIATESESQSSKSAYSVYS
ETVDLIKFIMSLKSFSDATAPTQEKIFAVLCMRCQSILNMAMFRCKKDIAIKYSRTLNKH
FESSSKVAQAPSPCIASTGTPSPLSPMPSPASSVGSQSSAGSVGSSGVAATISTPVTIQN
MTSSYVTITSHVLTAFDLWEQAEALTRKNKEFFARLSTNVCTLALNSSLVDLVHYTRQGF
QQLQELTKTP
Sequence length 1210
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Transcriptional misregulation in cancer  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
23535033
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Burkitt`s lymphoma Burkitt Lymphoma rs28933407, rs121918683, rs121918684
Lymphoblastic leukemia Precursor B-cell lymphoblastic leukemia, Precursor B-cell acute lymphoblastic leukemia rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699
View all (13 more)
Unknown
Disease term Disease name Evidence References Source
Metabolic Syndrome Metabolic Syndrome GWAS
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Bulimia Bulimia GWAS
Dermatitis Dermatitis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33493519
Arthritis Rheumatoid Associate 19359276, 29791587
Ataxia Associate 21574958
Carcinogenesis Associate 21574958
Chromosome Aberrations Associate 8506309
Emanuel syndrome Stimulate 10607691
Emanuel syndrome Associate 11493704, 11972513, 30679323, 8219184, 8286732, 8353274
Hepatitis B Associate 11167741, 37639801
Intellectual Disability Associate 21574958
Leukemia Associate 11986239, 17726105, 17875318, 19141473, 35839448, 35981137, 36585787, 36595475, 8286732