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DMXL1 - Dmx like 1 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1657

About DMXL1

Cytogenetic location: 5q23.1 Genomic coordinates (GRCh38): 5:119,071,027-119,249,127 (from NCBI)

This gene has 15 transcripts (splice variants), 214 orthologues and 1 paralogue. Ubiquitous expression in prostate (RPKM 16.8), thyroid (RPKM 7.3) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissue, and it has been associated with ocular phenotypes. In addition, it is upregulated in cultured cells that overexpress growth factor independence 1B, a transcription factor that is essential for hematopoietic cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

DMXL1 Products (8)

mRNA	Protein	Name
NM_001290321.3	NP_001277250.1	dmX-like protein 1 isoform 1
NM_001349239.2	NP_001336168.1	dmX-like protein 1 isoform 1
NM_001349240.2	NP_001336169.1	dmX-like protein 1 isoform 2
NM_001387933.1	NP_001374862.1	dmX-like protein 1 isoform 2
NM_001387934.1	NP_001374863.1	dmX-like protein 1 isoform 4
NM_001387937.1	NP_001374866.1	dmX-like protein 1 isoform 5
NM_001387938.1	NP_001374867.1	dmX-like protein 1 isoform 6
NM_005509.6	NP_005500.4	dmX-like protein 1 isoform 2

DMXL1 Protein Structure

WD40

Rav1p_C

WD40

0
500
1000
1500
2000
2500
3027 a.a.

Protein Preferred Names	Protein Names
dmX-like protein 1

Related Diseases

Diseases	Alias
Fleck Retina, Familial Benign	FRFB Familial Benign Flecked Retina Familial Benign Fleck Retina
Kohlschutter-Tonz Syndrome	Amelocerebrohypohidrotic Syndrome KTZS Epilepsy And Yellow Teeth Kohlschutter Tonz Syndrome Kohlschutter Syndrome Epilepsy Dementia Amelogenesis Imperfecta Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome Epilepsy, Dementia, And Amelogenesis Imperfecta Kohlschutter'S Syndrome Kohlschütter-Tönz Syndrome Kohlschuetter-Toenz Syndrome Presenile Dementia Dementia
Spherocytosis, Type 4	Hereditary Spherocytosis Type 4 SPH4 Hs4 Spherocytosis, Hereditary, 4 Hereditary Spherocytosis 4 Spherocytosis 4
Neutropenia, Severe Congenital, X-Linked	X-Linked Severe Congenital Neutropenia XLN SCNX Severe Congenital Neutropenia X-Linked Neutropenia, Congenital, Severe, X-Linked
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Christ-Siemens-Touraine Syndrome XHED Ectodermal Dysplasia 1 Xlhed Ed1 Cst Syndrome Ectodermal Dysplasia 1, Hypohidrotic/Hair/Tooth Type, X-Linked Ectd1 Ectodermal Dysplasia, Anhidrotic, X-Linked Eda Eda1 Hed1 Ectodermal Dysplasia 1, Anhidrotic X-Linked Anhidrotic Ectodermal Dysplasia X-Linked Hypohidrotic Ectodermal Dysplasia Hypohidrotic X-Linked Ectodermal Dysplasia Ectodermal Dysplasia, Hypohidrotic, 1 Hypohidrotic Ectodermal Dysplasia, X-Linked Anhidrotic Ectodermal Dysplasia X-Linked Hypohidrotic Ectodermal Dysplasia X-Linked Ectodermal Dysplasia 1 Hypohidrotic/Hair/Tooth Type X-Linked Ectodermal Dysplasia Anhidrotic
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03836	DMXL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DMXL1	RGD	RGD:1307692
Felis catus	DMXL1	VGNC	VGNC:61534
Macaca mulatta	DMXL1	VGNC	VGNC:71935
Canis familiaris	DMXL1	VGNC	VGNC:40006
Mus musculus	DMXL1	MGD	MGI:2443926
Bos taurus	DMXL1	VGNC	VGNC:28117