SEC61A1 - SEC61 translocon subunit alpha 1 Gene

Homo sapiens

Also known as HNFJ4; SEC61; ADTKD5; HSEC61; SEC61A

Gene ID: 29927 | Gene type: protein coding

About SEC61A1

Cytogenetic location: 3q21.3 Genomic coordinates (GRCh38): 3:128,051,641-128,071,683 (from NCBI)

This gene has 22 transcripts (splice variants), 283 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 81.0), placenta (RPKM 70.7) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]

SEC61A1 Products(3)

mRNA	Protein	Name
NM_001400328.1	NP_001387257.1	protein transport protein Sec61 subunit alpha isoform 1 isoform 2
NM_001400329.1	NP_001387258.1	protein transport protein Sec61 subunit alpha isoform 1 isoform 3
NM_013336.4	NP_037468.1	protein transport protein Sec61 subunit alpha isoform 1 isoform 1

SEC61A1 Protein Structure

Plug_translocon

SecY

0
100
200
300
400
476 a.a.

Protein Preferred Names

Protein Names

protein transport protein Sec61 subunit alpha isoform 1

SEC61 translocon alpha 1 subunit

Related Diseases

Diseases

Alias

Tubulointerstitial Kidney Disease, Autosomal Dominant, 5

Hyperuricemic Nephropathy, Familial Juvenile, 4	ADTKD5
Hnfj4	Hyperuricemic Nephropathy, Familial Juvenile Type 4
Familial Juvenile Hyperuricemic Nephropathy 4

Polycystic Liver Disease

Autosomal Dominant Polycystic Liver Disease	Isolated Polycystic Liver Disease
Pcld	Congenital Cystic Liver Disease
Congenital Hepatic Cyst	Fibrocystic Liver Disease
Isolated Autosomal Dominant Polycystic Liver Disease	Adpcld
Liver Disease, Polycystic	Multiple Cysts Of Liver
Pld - [Polycystic Liver Disease]	Polycystic Liver Disorder
Polycystic Liver	Congenital Polycystic Disease Of Liver
Congenital Polycystic Liver Disease

Buruli Ulcer

Buruli Ulcer, Susceptibility To	Buruli Ulcer Disease
Mycobacterium Ulcerans	Mycobacterium Ulcerans, Susceptibility To
Bairnsdale Ulcer	Daintree Ulcer
Mossman Ulcer	Searl Ulcer
Searle'S Ulcer	Bud

Kidney Disease

Renal Failure	Kidney Failure
Kidney Diseases	Nephropathy
Abnormality Of The Kidney	Impaired Renal Function Disease
Renal Anomaly	Kidney Dysfunction
Renal Disease	Nephropathies
Renal Failure Adverse Event	Abnormal Renal Function

Autosomal Dominant Severe Congenital Neutropenia

Severe Congenital Neutropenia Autosomal Dominant

Neutropenia, Congenital, Severe, Autosomal Dominant

Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

Familial Juvenile Hyperuricemic Nephropathy	Mckd2
Familial Juvenile Hyperuricemic Nephropathy Type 1	Fjhn
Medullary Cystic Kidney Disease 2	Uromodulin-Associated Kidney Disease
Medullary Cystic Kidney Disease Type 2	ADTKD1
Hnfj1	Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria
Adtkd-Umod	Familial Juvenile Hyperuricemic Nephropathy 1
Umod-Related Adtkd	Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hyperuricemic Nephropathy, Familial Juvenile, 1	Gouty Nephropathy, Familial Juvenile
Medullary Cystic Kidney Disease 2, Autosomal Dominant	Admckd2
Autosomal Dominant Tubulointerstitial Kidney Disease Due To Umod Mutations	Adtkd Due To Umod Mutations
Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related	Autosomal Dominant Medullary Cystic Kidney Disease Type 2
Umod-Associated Kidney Disease	Uromodulin Kidney Disease
Familial Gout-Kidney Disease	Familial Gouty Nephropathy
Umak	Umod-Related Kidney Disease
Uromodulin Storage Disease	Fjhn1
Gouty Nephropathy Familial Juvenile	Nephropathy Familial With Gout
Hyperuricemic Nephropathy, Familial Juvenile 1	Hyperuricemic Nephropathy, Familial Juvenile
Kidney Disease, Glomerulocystic, With Hyperuricemia And Isosthenuria	Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1
Kidney Disease, Cystic, Medullary, Type 2	Medullary Cystic Kidney Disease Type Ii
Familial Juvenile Gout

Uterine Corpus Sarcoma

Sarcoma Of Corpus Uteri	Sarcoma Of Uterus
Sarcoma Of The Corpus Uteri	Uterine Sarcoma
Sarcoma, Nos Of Uterus

Retinitis Pigmentosa 61

RP61	Retinitis Pigmentosa, Type 61

Cystic Fibrosis

Mucoviscidosis	CF
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis	Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier Of	Cystic Fibrosis Of Pancreas
Fibrocystic Disease Of Pancreas	Cf - [Cystic Fibrosis]
Cystic Fibrosis Nos	Fibrocystic Disease
Fibrocystic Disease Of The Pancreas	Mucoviscidosis Of Pancreas
Nonproliferative Fibrocystic Disease	Pancreatic Cystic Fibrosis

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-139615	Sec61-IN-1	Inhibitor	99.77%	Unkown
HY-RS12621	SEC61A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SEC61A1	VGNC	VGNC:49153
Canis familiaris	SEC61A1	VGNC	VGNC:49614
Mus musculus	SEC61A1	MGD	MGI:1858417
Rattus norvegicus	SEC61A1	RGD	RGD:68321
Felis catus	SEC61A1	VGNC	VGNC:64973
Macaca mulatta	SEC61A1	VGNC	VGNC:77265

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