ENSG00000058262


Homo sapiens

Features
Gene ID: ENSG00000058262
  
Biological name :SEC61A1
  
Synonyms : P61619 / SEC61A1 / Sec61 translocon alpha 1 subunit
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: q21.3
Gene start: 128051641
Gene end: 128071683
  
Corresponding Affymetrix probe sets: 217716_s_at (Human Genome U133 Plus 2.0 Array)   222385_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000243253
Ensembl peptide - ENSP00000419172
Ensembl peptide - ENSP00000418493
Ensembl peptide - ENSP00000411445
NCBI entrez gene - 29927     See in Manteia.
OMIM - 609213
RefSeq - NM_013336
RefSeq Peptide - NP_037468
swissprot - B4DR61
swissprot - B3KNF6
swissprot - C9JXC6
swissprot - P61619
Ensembl - ENSG00000058262
  
Related genetic diseases (OMIM): 617056 - Hyperuricemic nephropathy, familial juvenile, 4, 617056
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Q90ZM2ENSDARG00000021669Danio rerio
 sec61a1lENSDARG00000005675Danio rerio
 SEC61A1ENSGALG00000005966Gallus gallus
 P61620ENSMUSG00000030082Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9H9S3 / SEC61A2 / Sec61 translocon alpha 2 subunitENSG0000006566593


Protein motifs (from Interpro)
Interpro ID Name
 IPR002208  SecY/SEC61-alpha family
 IPR019561  Translocon Sec61/SecY, plug domain
 IPR023201  SecY domain superfamily
 IPR030659  SecY conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006613 cotranslational protein targeting to membrane IMP
 biological_processGO:0006614 SRP-dependent cotranslational protein targeting to membrane IMP
 biological_processGO:0006620 posttranslational protein targeting to endoplasmic reticulum membrane IMP
 biological_processGO:0007029 endoplasmic reticulum organization IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0034341 response to interferon-gamma IEA
 biological_processGO:0036498 IRE1-mediated unfolded protein response TAS
 biological_processGO:0039019 pronephric nephron development ISS
 biological_processGO:0045047 protein targeting to ER ISS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005791 rough endoplasmic reticulum IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030176 integral component of endoplasmic reticulum membrane ISS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0043022 ribosome binding ISS


Pathways (from Reactome)
Pathway description
ER-Phagosome pathway
SRP-dependent cotranslational protein targeting to membrane
XBP1(S) activates chaperone genes


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000097 Focal segmental glomerulosclerosis 
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 HP:0000107 Renal cysts 
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 HP:0000112 Nephropathy "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators]
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001875 Neutropenia 
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 HP:0001903 Anemia 
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 HP:0001997 Gout 
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 HP:0003676 Progressive disorder 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0012622 Chronic kidney disease "Functional anomaly of the kidney persisting for at least three months." [Eurenomics:ewuehl]
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 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000106803 P60468 / SEC61B / Sec61 translocon beta subunit  / complex
 ENSG00000025796 SEC63 / Q9UGP8 / SEC63 homolog, protein translocation regulator  / complex
 ENSG00000132432 P60059 / SEC61G / Sec61 translocon gamma subunit  / complex
 ENSG00000008952 SEC62 / Q99442 / SEC62 homolog, preprotein translocation factor  / complex
 ENSG00000065665 Q9H9S3 / SEC61A2 / Sec61 translocon alpha 2 subunit  / complex
 ENSG00000198356 ASNA1 / O43681 / arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)  / reaction






 

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