• Gene id: 4299

Gene Summary

• Gene Symbol: AFF1   Gene   UCSC   Ensembl
• Aliases: AF4, MLLT2, PBM1
• Gene name: AF4/FMR2 family member 1
• Alternate names: AF4/FMR2 family member 1, ALL1-fused gene from chromosome 4 protein, myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2, pre-B-cell monocytic leukemia partner 1, proto-oncogene AF4,
• Gene location: 4q21.3-q22.1 (86934605: 87141053)     Exons: 25     NC_000004.12
• Gene summary(Entrez): 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.
• OMIM: 137960

Protein Summary

• Protein general information: P51825  
  • Name: AF4/FMR2 family member 1 (ALL1 fused gene from chromosome 4 protein) (Protein AF 4) (Protein FEL) (Proto oncogene AF4)
  • Length: 1210  
  • Mass: 131422
• Sequence:

  MAAQSSLYNDDRNLLRIREKERRNQEAHQEKEAFPEKIPLFGEPYKTAKGDELSSRIQNMLGNYEEVKEFLSTKS
  HTHRLDASENRLGKPKYPLIPDKGSSIPSSSFHTSVHHQSIHTPASGPLSVGNISHNPKMAQPRTEPMPSLHAKS
  CGPPDSQHLTQDRLGQEGFGSSHHKKGDRRADGDHCASVTDSAPERELSPLISLPSPVPPLSPIHSNQQTLPRTQ
  GSSKVHGSSNNSKGYCPAKSPKDLAVKVHDKETPQDSLVAPAQPPSQTFPPPSLPSKSVAMQQKPTAYVRPMDGQ
  DQAPSESPELKPLPEDYRQQTFEKTDLKVPAKAKLTKLKMPSQSVEQTYSNEVHCVEEILKEMTHSWPPPLTAIH
  TPSTAEPSKFPFPTKDSQHVSSVTQNQKQYDTSSKTHSNSQQGTSSMLEDDLQLSDSEDSDSEQTPEKPPSSSAP
  PSAPQSLPEPVASAHSSSAESESTSDSDSSSDSESESSSSDSEENEPLETPAPEPEPPTTNKWQLDNWLTKVSQP
  AAPPEGPRSTEPPRRHPESKGSSDSATSQEHSESKDPPPKSSSKAPRAPPEAPHPGKRSCQKSPAQQEPPQRQTV
  GTKQPKKPVKASARAGSRTSLQGEREPGLLPYGSRDQTSKDKPKVKTKGRPRAAASNEPKPAVPPSSEKKKHKSS
  LPAPSKALSGPEPAKDNVEDRTPEHFALVPLTESQGPPHSGSGSRTSGCRQAVVVQEDSRKDRLPLPLRDTKLLS
  PLRDTPPPQSLMVKITLDLLSRIPQPPGKGSRQRKAEDKQPPAGKKHSSEKRSSDSSSKLAKKRKGEAERDCDNK
  KIRLEKEIKSQSSSSSSSHKESSKTKPSRPSSQSSKKEMLPPPPVSSSSQKPAKPALKRSRREADTCGQDPPKSA
  SSTKSNHKDSSIPKQRRVEGKGSRSSSEHKGSSGDTANPFPVPSLPNGNSKPGKPQVKFDKQQADLHMREAKKMK
  QKAELMTDRVGKAFKYLEAVLSFIECGIATESESQSSKSAYSVYSETVDLIKFIMSLKSFSDATAPTQEKIFAVL
  CMRCQSILNMAMFRCKKDIAIKYSRTLNKHFESSSKVAQAPSPCIASTGTPSPLSPMPSPASSVGSQSSAGSVGS
  SGVAATISTPVTIQNMTSSYVTITSHVLTAFDLWEQAEALTRKNKEFFARLSTNVCTLALNSSLVDLVHYTRQGF
  QQLQELTKTP

• Structural information:
  • Interpro: IPR007797  
  • PDB: 2LM0
  • PDBsum: 2LM0
  • DIP: 56407
  • STRING: ENSP00000378578
• Other Databases: GeneCards:  AFF1  Malacards:  AFF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008023	transcription elongation factor complex	IBA	cellular component
GO:0032783	super elongation complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0010468	regulation of gene expression	IBA	biological process
GO:0008023	transcription elongation factor complex	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
B-cell acute lymphoblastic leukemia	KEGG:H00001
B-cell acute lymphoblastic leukemia	KEGG:H00001
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R