P12980 (LYL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein lyl-1

Alternative name(s):
Class A basic helix-loop-helix protein 18
Short name=bHLHa18
Lymphoblastic leukemia-derived sequence 1

Gene names

Name:	LYL1
Synonyms:	BHLHA18

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	280 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subunit structure	Efficient DNA binding requires dimerization with another bHLH protein.
Subcellular location	Nucleus Potential.
Involvement in disease	Note=A chromosomal aberration involving LYL1 may be a cause of a form of T-cell acute lymphoblastic leukemia (T-ALL). Translocation t(7;19)(q35;p13) with TCRB.
Sequence similarities	Contains 1 basic helix-loop-helix (bHLH) domain.
Sequence caution	The sequence AAA88084.1 differs from that shown. Reason: Erroneous initiation. The sequence AAA88085.1 differs from that shown. Reason: Erroneous initiation. The sequence AAA92488.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Chromosomal rearrangement
Disease	Proto-oncogene
Ligand	DNA-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	B cell differentiation Inferred from sequence or structural similarity. Source: UniProtKB blood vessel maturation Inferred from mutant phenotype. Source: UniProtKB definitive hemopoiesis Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of transcription, DNA-dependent Inferred from direct assay. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	DNA binding Inferred from direct assay. Source: UniProtKB protein binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 280	280	Protein lyl-1		PRO_0000127262
Regions
	Domain	163 – 203	41	Helix-loop-helix motif
	DNA binding	150 – 162	13	Basic motif
Experimental info
	Sequence conflict	235	1	A → P in AAA88084. Ref.1
	Sequence conflict	235	1	A → P in AAA88085. Ref.1
	Sequence conflict	235	1	A → P in AAA92488. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P12980 [UniParc]. Last modified April 14, 2009. Version 3. Checksum: 4A9D795FF74C59F8	FASTA	280	29,938
	10 20 30 40 50 60 MCPPQAQAEV GPTMTEKAEM VCAPSPAPAP PPKPASPGPP QVEEVGHRGG SSPPRLPPGV 70 80 90 100 110 120 PVISLGHSRP PGVAMPTTEL GTLRPPLLQL STLGTAPPTL ALHYHPHPFL NSVYIGPAGP 130 140 150 160 170 180 FSIFPSSRLK RRPSHCELDL AEGHQPQKVA RRVFTNSRER WRQQNVNGAF AELRKLLPTH 190 200 210 220 230 240 PPDRKLSKNE VLRLAMKYIG FLVRLLRDQA AALAAGPTPP GPRKRPVHRV PDDGARRGSG 250 260 270 280 RRAEAAARSQ PAPPADPDGS PGGAARPIKM EQTALSPEVR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"lyl-1, a novel gene altered by chromosomal translocation in T cell leukemia, codes for a protein with a helix-loop-helix DNA binding motif." Mellentin J.D., Smith S.D., Cleary M.L. Cell 58:77-83(1989) [PubMed: 2752424] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[2]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed: 15057824] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lymph.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	M22637 mRNA. Translation: AAA88084.1. Different initiation. M22637 mRNA. Translation: AAA88085.1. Different initiation. M22638 Genomic DNA. Translation: AAA92488.1. Different initiation. AC005546 Genomic DNA. Translation: AAC33149.1. AC007787 Genomic DNA. No translation available. BC002796 mRNA. Translation: AAH02796.2.
IPI	IPI00218258.
PIR	A30988.
RefSeq	NP_005574.2. NM_005583.4.
UniGene	Hs.46446. Hs.728534.
3D structure databases
ProteinModelPortal	P12980.
SMR	P12980. Positions 150-207.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-40885N.
IntAct	P12980. 1 interaction.
STRING	P12980.
PTM databases
PhosphoSite	P12980.
Polymorphism databases
DMDM	226694149.
Proteomic databases
PRIDE	P12980.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000264824; ENSP00000264824; ENSG00000104903.
GeneID	4066.
KEGG	hsa:4066.
UCSC	uc002mwi.1. human.
Organism-specific databases
CTD	4066.
GeneCards	GC19M013209.
H-InvDB	HIX0202812.
HGNC	HGNC:6734. LYL1.
MIM	151440. gene+phenotype.
neXtProt	NX_P12980.
PharmGKB	PA30497.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10725.
GeneTree	ENSGT00590000082747.
HOGENOM	HBG127097.
HOVERGEN	HBG094957.
InParanoid	P12980.
OMA	QVEEVGH.
OrthoDB	EOG4GF3GD.
PhylomeDB	P12980.
Gene expression databases
ArrayExpress	P12980.
Bgee	P12980.
CleanEx	HS_LYL1.
Genevestigator	P12980.
GermOnline	ENSG00000104903. Homo sapiens.
Family and domain databases
InterPro	IPR011598. HLH_DNA-bd. [Graphical view]
Gene3D	G3DSA:4.10.280.10. HLH_DNA_bd. 1 hit.
KO	K15604.
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. HLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	15940.
SOURCE	Search...

Entry information

Entry name

LYL1_HUMAN

Accession

Primary (citable) accession number: P12980
Secondary accession number(s): O76102

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 1, 1990
Last sequence update:	April 14, 2009
Last modified:	January 25, 2012
This is version 123 of the entry and version 3 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.