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P12980

- LYL1_HUMAN

UniProt

P12980 - LYL1_HUMAN

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Protein

Protein lyl-1

Gene

LYL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  1. DNA binding Source: UniProtKB

GO - Biological processi

  1. B cell differentiation Source: UniProtKB
  2. blood vessel maturation Source: UniProtKB
  3. definitive hemopoiesis Source: UniProtKB
  4. positive regulation of transcription, DNA-templated Source: UniProtKB
  5. regulation of transcription, DNA-templated Source: UniProtKB
  6. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
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 namesi
Name:LYL1
Synonyms:BHLHA18
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:6734. LYL1.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

MIMi151440. gene+phenotype.
PharmGKBiPA30497.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 280280Protein lyl-1PRO_0000127262Add
BLAST

Proteomic databases

PaxDbiP12980.
PRIDEiP12980.

PTM databases

PhosphoSiteiP12980.

Expressioni

Gene expression databases

BgeeiP12980.
CleanExiHS_LYL1.
ExpressionAtlasiP12980. baseline and differential.
GenevestigatoriP12980.

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein.

Protein-protein interaction databases

BioGridi110244. 8 interactions.
DIPiDIP-40885N.
IntActiP12980. 1 interaction.
MINTiMINT-85715.
STRINGi9606.ENSP00000264824.

Structurei

3D structure databases

ProteinModelPortaliP12980.
SMRiP12980. Positions 148-209.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini150 – 20253bHLHPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG307510.
GeneTreeiENSGT00760000119097.
HOGENOMiHOG000113414.
HOVERGENiHBG094957.
InParanoidiP12980.
KOiK15604.
OMAiIKMEQTA.
OrthoDBiEOG7SN8DF.
PhylomeDBiP12980.
TreeFamiTF315153.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P12980-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MCPPQAQAEV GPTMTEKAEM VCAPSPAPAP PPKPASPGPP QVEEVGHRGG
60 70 80 90 100
SSPPRLPPGV PVISLGHSRP PGVAMPTTEL GTLRPPLLQL STLGTAPPTL
110 120 130 140 150
ALHYHPHPFL NSVYIGPAGP FSIFPSSRLK RRPSHCELDL AEGHQPQKVA
160 170 180 190 200
RRVFTNSRER WRQQNVNGAF AELRKLLPTH PPDRKLSKNE VLRLAMKYIG
210 220 230 240 250
FLVRLLRDQA AALAAGPTPP GPRKRPVHRV PDDGARRGSG RRAEAAARSQ
260 270 280
PAPPADPDGS PGGAARPIKM EQTALSPEVR
Length:280
Mass (Da):29,938
Last modified:April 14, 2009 - v3
Checksum:i4A9D795FF74C59F8
GO

Sequence cautioni

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.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti235 – 2351A → P in AAA88084. (PubMed:2752424)Curated
Sequence conflicti235 – 2351A → P in AAA88085. (PubMed:2752424)Curated
Sequence conflicti235 – 2351A → P in AAA92488. (PubMed:2752424)Curated

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS12292.1.
PIRiA30988.
RefSeqiNP_005574.2. NM_005583.4.
UniGeneiHs.46446.
Hs.728534.

Genome annotation databases

EnsembliENST00000264824; ENSP00000264824; ENSG00000104903.
GeneIDi4066.
KEGGihsa:4066.
UCSCiuc002mwi.3. human.

Polymorphism databases

DMDMi226694149.

Keywords - Coding sequence diversityi

Chromosomal rearrangement

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS12292.1.
PIRi A30988.
RefSeqi NP_005574.2. NM_005583.4.
UniGenei Hs.46446.
Hs.728534.

3D structure databases

ProteinModelPortali P12980.
SMRi P12980. Positions 148-209.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110244. 8 interactions.
DIPi DIP-40885N.
IntActi P12980. 1 interaction.
MINTi MINT-85715.
STRINGi 9606.ENSP00000264824.

PTM databases

PhosphoSitei P12980.

Polymorphism databases

DMDMi 226694149.

Proteomic databases

PaxDbi P12980.
PRIDEi P12980.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000264824 ; ENSP00000264824 ; ENSG00000104903 .
GeneIDi 4066.
KEGGi hsa:4066.
UCSCi uc002mwi.3. human.

Organism-specific databases

CTDi 4066.
GeneCardsi GC19M013209.
H-InvDB HIX0014818.
HGNCi HGNC:6734. LYL1.
MIMi 151440. gene+phenotype.
neXtProti NX_P12980.
PharmGKBi PA30497.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG307510.
GeneTreei ENSGT00760000119097.
HOGENOMi HOG000113414.
HOVERGENi HBG094957.
InParanoidi P12980.
KOi K15604.
OMAi IKMEQTA.
OrthoDBi EOG7SN8DF.
PhylomeDBi P12980.
TreeFami TF315153.

Miscellaneous databases

GeneWikii LYL1.
GenomeRNAii 4066.
NextBioi 15940.
PROi P12980.
SOURCEi Search...

Gene expression databases

Bgeei P12980.
CleanExi HS_LYL1.
ExpressionAtlasi P12980. baseline and differential.
Genevestigatori P12980.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
[Graphical view ]
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lymph.

Entry informationi

Entry nameiLYL1_HUMAN
AccessioniPrimary (citable) accession number: P12980
Secondary accession number(s): O76102
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: April 14, 2009
Last modified: October 29, 2014
This is version 148 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3