DMXL1 - Dmx like 1 Gene

Homo sapiens

Gene ID: 1657 | Gene type: protein coding

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

Bioactive Molecules (1)

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

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