1. Gene
  2. SEC61A1 - SEC61 translocon subunit alpha 1 Gene

SEC61A1 - SEC61 translocon subunit alpha 1 Gene

中文名称:SEC61 易位子亚基 alpha 1

种属: Homo sapiens

同用名: HNFJ4; SEC61; ADTKD5; HSEC61; SEC61A

基因 ID: 29927 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质属于 SECY/SEC61-α 家族。它似乎在将分泌多肽和膜多肽插入内质网中起着至关重要的作用。发现这种蛋白质与膜结合核糖体直接或通过衔接蛋白紧密相关。该基因编码异聚 SEC61 复合体的一个 alpha 亚基,该复合体还包含 beta 和 gamma 亚基。[RefSeq 提供,2008 年 7 月]

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 基因产物(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 蛋白结构

Plug_translocon

Plug_translocon: Plug domain of Sec61p (40 - 74)

SecY

SecY: SecY translocase (75 - 459)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 476 a.a.
蛋白主名 其他名称

protein transport protein Sec61 subunit alpha isoform 1

SEC61 translocon alpha 1 subunit

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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