1. Gene
  2. DTX3L - deltex E3 ubiquitin ligase 3L Gene

DTX3L - deltex E3 ubiquitin ligase 3L Gene

Homo sapiens

Also known as BBAP; RNF143

Gene ID: 151636 | Gene type: protein coding

About DTX3L

Cytogenetic location: 3q21.1 Genomic coordinates (GRCh38): 3:122,564,338-122,575,203 (from NCBI)

This gene has 2 transcripts (splice variants), 355 orthologues and 4 paralogues. Ubiquitous expression in appendix (RPKM 14.2), spleen (RPKM 13.2) and 25 other tissues.

Summary

DTX3L functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]

DTX3L Products(1)

mRNA Protein Name
NM_138287.3 NP_612144.1 E3 ubiquitin-protein ligase DTX3L

DTX3L Protein Structure

zf-RING_2

zf-RING_2: Ring finger domain (560 - 599)

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  • 740 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase DTX3L

B-lymphoma- and BAL-associated protein

Related Diseases

Diseases Alias
Arteriovenous Malformations Of The Brain

Cerebral Arteriovenous Malformation

Intracranial Arteriovenous Malformation

Intracranial Hemorrhage In Brain Cerebrovascular Malformations, Susceptibility To

Intracranial Arteriovenous Malformations

Bavm

Cerebral Arteriovenous Malformations

Intracranial Hemorrhage In Brain Cerebrovascular Malformations

Arteriovenous Malformation Of The Brain, Somatic

Intracranial Avm

Arteriovenous Malformations Cerebral

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus DTX3L RGD RGD:1565144
Macaca mulatta DTX3L VGNC VGNC:71995
Felis catus DTX3L VGNC VGNC:61651
Canis familiaris DTX3L VGNC VGNC:40118
Mus musculus DTX3L MGD MGI:2656973
Bos taurus DTX3L VGNC VGNC:28239
Others DTX3L NCBI