Tissue expression of AFF1 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	AFF1
Gene description	AF4/FMR2 family, member 1
Protein class	Cancer-related genes Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	8
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	AFF1 (HGNC Symbol)
Synonyms	AF-4, AF4, MLLT2, PBM1
Description	AF4/FMR2 family, member 1 (HGNC Symbol)
Entrez gene summary	This gene encodes a member of the AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome family of proteins, which have been implicated in childhood lymphoblastic leukemia, Fragile X E site mental retardation, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Chromosome	4
Cytoband
Chromosome location (bp)	86935002 - 87141054
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000172493 (version 83.38)
Entrez gene	4299
UniProt	P51825 (UniProt - Evidence at protein level)
neXtProt	NX_P51825
Antibodypedia	AFF1 antibodies

PROTEIN BROWSER

AFF1-001	AFF1-003	AFF1-004	AFF1-005	AFF1-007	AFF1-008	AFF1-201	AFF1-202

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
AFF1-001 ENSP00000305689 ENST00000307808	P51825 [Direct mapping] AF4/FMR2 family member 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0008023 [transcription elongation factor complex] Show all	1210 aa 131.4 kDa	No	0
AFF1-003 ENSP00000424766 ENST00000511722	D6RAU0 [Direct mapping] AF4/FMR2 family member 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		137 aa 14.5 kDa	No	0
AFF1-004 ENSP00000424881 ENST00000514970	H0Y9S4 [Direct mapping] AF4/FMR2 family member 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		194 aa 20.7 kDa	No	0
AFF1-005 ENSP00000425755 ENST00000511442	D6RIZ5 [Direct mapping] AF4/FMR2 family member 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		52 aa 5.8 kDa	No	0
AFF1-007 ENSP00000427593 ENST00000507468	E7ETI4 [Direct mapping] AF4/FMR2 family member 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		406 aa 44.8 kDa	No	0
AFF1-008 ENSP00000424483 ENST00000503477	E7EMC5 [Direct mapping] AF4/FMR2 family member 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		417 aa 46.1 kDa	No	0
AFF1-201 ENSP00000378578 ENST00000395146	P51825 [Direct mapping] AF4/FMR2 family member 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0008023 [transcription elongation factor complex] GO:0045893 [positive regulation of transcription, DNA-templated] Show all	1218 aa 132.4 kDa	No	0
AFF1-202 ENSP00000440843 ENST00000544085	F5GXF9 [Direct mapping] AF4/FMR2 family member 1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		1205 aa 131.1 kDa	No	0