Endometriosis Knowledgebase

Search Result

Gene id

1749

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

DLX5 Gene UCSC Ensembl

Aliases

SHFM1D

Gene name

distal-less homeobox 5

Alternate names

homeobox protein DLX-5, distal-less homeo box 5, split hand/foot malformation type 1 with sensorineural hearing loss,

Gene location

7q21.3 (97024830: 97020389) Exons: 5 NC_000007.14

Gene summary(Entrez)

This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]

OMIM

600028

Protein Summary

Protein general information

P56178

Name: Homeobox protein DLX 5

Length: 289 Mass: 31,540

Sequence

MTGVFDRRVPSIRSGDFQAPFQTSAAMHHPSQESPTLPESSATDSDYYSPTGGAPHGYCSPTSASYGKALNPYQY
QYHGVNGSAGSYPAKAYADYSYASSYHQYGGAYNRVPSATNQPEKEVTEPEVRMVNGKPKKVRKPRTIYSSFQLA
ALQRRFQKTQYLALPERAELAASLGLTQTQVKIWFQNKRSKIKKIMKNGEMPPEHSPSSSDPMACNSPQSPAVWE
PQGSSRSLSHHPHAHPPTSNQSPASSYLENSASWYTSAASSINSHLPPPGSLQHPLALASGTLY

Structural information

Interpro:	IPR022135 IPR009057 IPR017970 IPR001356 IPR020479 IPR000047
Prosite:	PS00027 PS50071
Pfam:	PF12413 PF00046
PDB:	2DJN 4RDU
PDBsum:	2DJN 4RDU
MINT:	4720915
STRING:	ENSP00000222598;

Other Databases

GeneCards: DLX5; Malacards: DLX5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISS	cellular_component
GO:0000978	RNA polymerase II core pr omoter proximal region se quence-specific DNA bindi ng	ISS	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	ISS	molecular_function
GO:0001501	skeletal system developme nt	TAS	biological_process
GO:0001649	osteoblast differentiatio n	ISS	biological_process
GO:0001958	endochondral ossification	ISS	biological_process
GO:0005737	cytoplasm	IEA	cellular_component
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0007399	nervous system developmen t	TAS	biological_process
GO:0007411	axon guidance	IEA	biological_process
GO:0008283	cell proliferation	IDA	biological_process
GO:0030326	embryonic limb morphogene sis	IEA	biological_process
GO:0030509	BMP signaling pathway	ISS	biological_process
GO:0030855	epithelial cell different iation	IEA	biological_process
GO:0042472	inner ear morphogenesis	IEA	biological_process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045669	positive regulation of os teoblast differentiation	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0048646	anatomical structure form ation involved in morphog enesis	IEA	biological_process
GO:0050679	positive regulation of ep ithelial cell proliferati on	IEA	biological_process
GO:0060021	palate development	IEA	biological_process
GO:0060166	olfactory pit development	IEA	biological_process
GO:0060325	face morphogenesis	IEA	biological_process
GO:0071773	cellular response to BMP stimulus	ISS	biological_process
GO:0071837	HMG box domain binding	IEA	molecular_function
GO:0090263	positive regulation of ca nonical Wnt signaling pat hway	IEA	biological_process
GO:1901522	positive regulation of tr anscription from RNA poly merase II promoter involv ed in cellular response t o chemical stimulus	ISS	biological_process
GO:0000790	nuclear chromatin	IEA	cellular_component
GO:0000790	nuclear chromatin	ISS	cellular_component
GO:0000978	RNA polymerase II core pr omoter proximal region se quence-specific DNA bindi ng	IEA	molecular_function
GO:0000978	RNA polymerase II core pr omoter proximal region se quence-specific DNA bindi ng	ISS	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IEA	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	ISS	molecular_function
GO:0001501	skeletal system developme nt	TAS	biological_process
GO:0001503	ossification	IEA	biological_process
GO:0001649	osteoblast differentiatio n	IEA	biological_process
GO:0001649	osteoblast differentiatio n	ISS	biological_process
GO:0001958	endochondral ossification	IEA	biological_process
GO:0001958	endochondral ossification	ISS	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0007399	nervous system developmen t	TAS	biological_process
GO:0007409	axonogenesis	IEA	biological_process
GO:0007411	axon guidance	IEA	biological_process
GO:0008283	cell proliferation	IDA	biological_process
GO:0030326	embryonic limb morphogene sis	IEA	biological_process
GO:0030509	BMP signaling pathway	IEA	biological_process
GO:0030509	BMP signaling pathway	ISS	biological_process
GO:0030855	epithelial cell different iation	IEA	biological_process
GO:0042472	inner ear morphogenesis	IEA	biological_process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0043583	ear development	IEA	biological_process
GO:0044212	transcription regulatory region DNA binding	IEA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045669	positive regulation of os teoblast differentiation	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0048646	anatomical structure form ation involved in morphog enesis	IEA	biological_process
GO:0050679	positive regulation of ep ithelial cell proliferati on	IEA	biological_process
GO:0060021	palate development	IEA	biological_process
GO:0060166	olfactory pit development	IEA	biological_process
GO:0060322	head development	IEA	biological_process
GO:0060325	face morphogenesis	IEA	biological_process
GO:0060349	bone morphogenesis	IEA	biological_process
GO:0071773	cellular response to BMP stimulus	IEA	biological_process
GO:0071773	cellular response to BMP stimulus	ISS	biological_process
GO:0071837	HMG box domain binding	IEA	molecular_function
GO:0090263	positive regulation of ca nonical Wnt signaling pat hway	IEA	biological_process
GO:1901522	positive regulation of tr anscription from RNA poly merase II promoter involv ed in cellular response t o chemical stimulus	IEA	biological_process
GO:1901522	positive regulation of tr anscription from RNA poly merase II promoter involv ed in cellular response t o chemical stimulus	ISS	biological_process
GO:0000790	nuclear chromatin	ISS	cellular_component
GO:0000978	RNA polymerase II core pr omoter proximal region se quence-specific DNA bindi ng	ISS	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	ISS	molecular_function
GO:0001501	skeletal system developme nt	TAS	biological_process
GO:0001649	osteoblast differentiatio n	ISS	biological_process
GO:0001958	endochondral ossification	ISS	biological_process
GO:0007399	nervous system developmen t	TAS	biological_process
GO:0008283	cell proliferation	IDA	biological_process
GO:0030509	BMP signaling pathway	ISS	biological_process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0071773	cellular response to BMP stimulus	ISS	biological_process
GO:1901522	positive regulation of tr anscription from RNA poly merase II promoter involv ed in cellular response t o chemical stimulus	ISS	biological_process

KEGG pathways

hsa04550 Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Endometriosis	PMID: 16249290
Endometriosis	INFBASE16249290
Split-hand/foot malformation	OMIM: 600028

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
16249290	Endometrio sis			30 (15 patients undergoing lap aroscopy or hys terectomy for e ndometriosis, 1 5 controls)		IGFBP5 PIM2 RPL41 PSAP FBLN1 SIPL DLX5 HSD11B2 SET and RHOE	Show abstract