1. Gene
  2. SEL1L - SEL1L adaptor subunit of ERAD E3 ubiquitin ligase Gene

SEL1L - SEL1L adaptor subunit of ERAD E3 ubiquitin ligase Gene

Homo sapiens

Also known as Hrd3; SEL1L1; PRO1063; SEL1-LIKE

Gene ID: 6400 | Gene type: protein coding

About SEL1L

Cytogenetic location: 14q31.1 Genomic coordinates (GRCh38): 14:81,471,547-81,533,853 (from NCBI)

This gene has 6 transcripts (splice variants), 214 orthologues and 4 paralogues. Ubiquitous expression in pancreas (RPKM 48.9), thyroid (RPKM 38.9) and 25 other tissues.

Summary

The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the Proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

SEL1L Products(2)

mRNA Protein Name
NM_001244984.2 NP_001231913.1 protein sel-1 homolog 1 isoform 2 precursor
NM_005065.6 NP_005056.3 protein sel-1 homolog 1 isoform 1 precursor

SEL1L Protein Structure

fn2

fn2: Fibronectin type II domain (127 - 168)

Sel1

Sel1: Sel1 repeat (186 - 218)

Sel1

Sel1: Sel1 repeat (226 - 253)

Sel1

Sel1: Sel1 repeat (255 - 290)

Sel1

Sel1: Sel1 repeat (293 - 323)

Sel1

Sel1: Sel1 repeat (374 - 409)

Sel1

Sel1: Sel1 repeat (410 - 446)

Sel1

Sel1: Sel1 repeat (449 - 481)

Sel1

Sel1: Sel1 repeat (484 - 518)

Sel1

Sel1: Sel1 repeat (521 - 552)

Sel1

Sel1: Sel1 repeat (608 - 626)

Sel1

Sel1: Sel1 repeat (629 - 662)

Sel1

Sel1: Sel1 repeat (664 - 697)

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  • 794 a.a.
Protein Preferred Names Protein Names

protein sel-1 homolog 1

SEL1L, ERAD E3 ligase adaptor subunit

Related Diseases

Diseases Alias
Type 1 Diabetes Mellitus 11

Diabetes Mellitus, Insulin-Dependent, 11

Iddm11

Insulin-Dependent Diabetes Mellitus 11

T1D11

Insulin-Dependent Diabetes Mellitus-11

Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type
Lipase Deficiency, Combined

Lipoprotein Lipase Deficiency With Hepatic Triglyceride Lipase Deficiency

Lpl And Htgl Deficiency

Lpl And Hl Deficiency

Familial Lipase Maturation Factor 1 Deficiency

Lipase Deficiency Combined

Combined Lipase Deficiency

Familial Lmf1 Deficiency

CLD

Type 1 Diabetes Mellitus 10

Diabetes Mellitus, Insulin-Dependent, 10

IDDM10

Insulin-Dependent Diabetes Mellitus 10

Diabetes, Mellitus, Insulin-Dependent, Susceptibility To, 10

T1D10

Diabetes, Mellitus, Insulin-Dependent 10

Diabetes Mellitus, Insulin-Dependent, Type 10

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

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
Macaca mulatta SEL1L VGNC VGNC:77155
Rattus norvegicus SEL1L RGD RGD:620147
Mus musculus SEL1L MGD MGI:1329016
Felis catus SEL1L VGNC VGNC:64978
Canis familiaris SEL1L VGNC VGNC:54990
Bos taurus SEL1L VGNC VGNC:49962