P31314 (TLX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
T-cell leukemia homeobox protein 1

Alternative name(s):
Homeobox protein Hox-11
Proto-oncogene TCL-3
T-cell leukemia/lymphoma protein 3

Gene names

Name:	TLX1
Synonyms:	HOX11, TCL3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	330 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Controls the genesis of the spleen. Binds to the DNA sequence 5'-GGCGGTAAGTGG-3'.
Subunit structure	Interacts with MEIS1, MEIS2, PBX1, PBX2 and PBX3. Ref.13
Subcellular location	Nucleus Probable.
Involvement in disease	A chromosomal aberration involving TLX1 may be a cause of a form of T-cell acute lymphoblastic leukemia (T-ALL). Translocation t(10;14)(q24;q11) with TCRD.
Miscellaneous	TLX1 is oriented in a head-to-head manner with TDI. Both genes share the same promoter with robust bidirectional activity.
Sequence similarities	Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
Disease	Proto-oncogene
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
PTM	Acetylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell fate commitment Inferred from electronic annotation. Source: Compara central nervous system development Inferred from electronic annotation. Source: Compara neuron differentiation Inferred from electronic annotation. Source: Compara organ formation Inferred from electronic annotation. Source: Compara positive regulation of cell proliferation Inferred from electronic annotation. Source: Compara positive regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara spleen development Inferred from electronic annotation. Source: Compara
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
Ets1	P27577	2	EBI-2820655,EBI-4289053	From a different organism.
MEIS1	O00470	4	EBI-2820655,EBI-1210694
MEIS2	O14770-2	4	EBI-2820655,EBI-6390216
PBX1	P40424-2	2	EBI-2820655,EBI-6390251

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P31314-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: P31314-2)

The sequence of this isoform differs from the canonical sequence as follows:
     258-330: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 330	330	T-cell leukemia homeobox protein 1		PRO_0000049333
Regions
	DNA binding	201 – 260	60	Homeobox
Amino acid modifications
	Modified residue	236	1	N6-acetyllysine Ref.12
Natural variations
	Alternative sequence	258 – 330	73	Missing in isoform 2.		VSP_043068
Experimental info
	Sequence conflict	71	1	A → T in CAA08834. Ref.5
	Sequence conflict	276	1	L → R in AAB19293. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 1, 1993. Version 1. Checksum: 09A518FB5271F7ED	FASTA	330	34,365
	10 20 30 40 50 60 MEHLGPHHLH PGHAEPISFG IDQILNSPDQ GGCMGPASRL QDGEYGLGCL VGGAYTYGGG 70 80 90 100 110 120 GSAAATGAGG AGAYGTGGPG GPGGPAGGGG ACSMGPLTGS YNVNMALAGG PGPGGGGGSS 130 140 150 160 170 180 GGAGALSAAG VIRVPAHRPL AGAVAHPQPL ATGLPTVPSV PAMPGVNNLT GLTFPWMESN 190 200 210 220 230 240 RRYTKDRFTG HPYQNRTPPK KKKPRTSFTR LQICELEKRF HRQKYLASAE RAALAKALKM 250 260 270 280 290 300 TDAQVKTWFQ NRRTKWRRQT AEEREAERQQ ANRILLQLQQ EAFQKSLAQP LPADPLCVHN 310 320 330 SSLFALQNLQ PWSDDSTKIT SVTSVASACE
	Isoform 2 [UniParc]. Checksum: A8072D76E4FC6CC7	FASTA	257	26,245
	10 20 30 40 50 60 MEHLGPHHLH PGHAEPISFG IDQILNSPDQ GGCMGPASRL QDGEYGLGCL VGGAYTYGGG 70 80 90 100 110 120 GSAAATGAGG AGAYGTGGPG GPGGPAGGGG ACSMGPLTGS YNVNMALAGG PGPGGGGGSS 130 140 150 160 170 180 GGAGALSAAG VIRVPAHRPL AGAVAHPQPL ATGLPTVPSV PAMPGVNNLT GLTFPWMESN 190 200 210 220 230 240 RRYTKDRFTG HPYQNRTPPK KKKPRTSFTR LQICELEKRF HRQKYLASAE RAALAKALKM 250 TDAQVKTWFQ NRRTKWR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The tcl-3 proto-oncogene altered by chromosomal translocation in T-cell leukemia codes for a homeobox protein." Lu M., Gong Z., Shen W., Ho A.D. EMBO J. 10:2905-2910(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: T-cell.
[2]	"HOX11, a homeobox-containing T-cell oncogene on human chromosome 10q24." Kennedy M.A., Gonzalez-Sarmiento R., Kees U.R., Lampert F., Dear T.N., Boehm T., Rabbitts T.H. Proc. Natl. Acad. Sci. U.S.A. 88:8900-8904(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: T-cell.
[3]	"Deregulation of a homeobox gene, HOX11, by the t(10;14) in T cell leukemia." Hatano M., Roberts C.W., Minden M., Crist W.M., Korsmeyer S.J. Science 253:79-82(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]	"Genomic organization of the putative human homeobox proto-oncogene HOX-11 (TCL-3) and its endogenous expression in T cells." Lu M., Zhang N., Ho A.D. Oncogene 7:1325-1330(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]	"Sequence of 10q24 locus surrounding the HOX11 oncogene reveals a new gene HUG1 expressed in a T-ALL cell line." Watt P.M., Ranford P.R., Kees U.R. Gene 234:169-176(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[6]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[9]	"Multiple negative elements contribute to repression of the HOX11 proto-oncogene." Brake R.L., Kees U.R., Watt P.M. Oncogene 17:1787-1795(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-64.
[10]	"Identification of homeobox genes expressed in human haemopoietic progenitor cells." Moretti P., Simmons P., Thomas P., Haylock D., Rathjen P., Vadas M., D'Andrea R. Gene 144:213-219(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 209-247 (ISOFORM 1/2). Tissue: Bone marrow.
[11]	"A promoter with bidirectional activity is located between TLX1/HOX11 and a divergently transcribed novel human gene." Greene W.K., Sontani Y., Sharp M.A., Dunn D.S., Kees U.R., Bellgard M.I. Gene 391:223-232(2007) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION.
[12]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-236, MASS SPECTROMETRY.
[13]	"MEIS proteins as partners of the TLX1/HOX11 oncoprotein." Milech N., Gottardo N.G., Ford J., D'Souza D., Greene W.K., Kees U.R., Watt P.M. Leuk. Res. 34:358-363(2010) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH MEIS1; MEIS2; PBX1; PBX2 AND PBX3.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	M62626 mRNA. Translation: AAA36719.1. M75952 mRNA. Translation: AAA58662.1. S38742 mRNA. Translation: AAB19293.1. AJ009794 Genomic DNA. Translation: CAA08834.1. AL357395 Genomic DNA. Translation: CAH72448.1. CH471066 Genomic DNA. Translation: EAW49778.1. BC130530 mRNA. Translation: AAI30531.1. AF067443 Genomic DNA. Translation: AAG10096.1.
IPI	IPI00011051. IPI00981206.
PIR	A40855.
RefSeq	NP_001182446.1. NM_001195517.1. NP_005512.1. NM_005521.3.
UniGene	Hs.89583.
3D structure databases
ProteinModelPortal	P31314.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-155N.
IntAct	P31314. 9 interactions.
STRING	9606.ENSP00000359215.
PTM databases
PhosphoSite	P31314.
Polymorphism databases
DMDM	399982.
Proteomic databases
PaxDb	P31314.
PRIDE	P31314.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000370196; ENSP00000359215; ENSG00000107807. ENST00000467928; ENSP00000434914; ENSG00000107807.
GeneID	3195.
KEGG	hsa:3195.
UCSC	uc001ksw.3. human.
Organism-specific databases
CTD	3195.
GeneCards	GC10P102880.
HGNC	HGNC:5056. TLX1.
MIM	186770. gene+phenotype.
neXtProt	NX_P31314.
PharmGKB	PA35095.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG314631.
HOGENOM	HOG000116280.
HOVERGEN	HBG036206.
InParanoid	P31314.
KO	K09340.
OMA	GEYGLGC.
OrthoDB	EOG49GKHR.
PhylomeDB	P31314.
Gene expression databases
ArrayExpress	P31314.
Bgee	P31314.
CleanEx	HS_TLX1.
Genevestigator	P31314.
GermOnline	ENSG00000107807. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR020479. Homeobox_metazoa. IPR001356. Homeodomain. IPR009057. Homeodomain-like. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX.
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	3195.
NextBio	12708.
SOURCE	Search...

Entry information

Entry name

TLX1_HUMAN

Accession

Primary (citable) accession number: P31314
Secondary accession number(s): A1L4G3 , O75699, Q5VXP2, Q9HCA0, Q9UD59

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	July 1, 1993
Last modified:	May 1, 2013
This is version 120 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.