The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in tha... See more...

Aliases for SSR1 Gene

Aliases for SSR1 Gene

  • Signal Sequence Receptor Subunit 1 2 3 5
  • Translocon-Associated Protein Subunit Alpha 3 4
  • Signal Sequence Receptor Subunit Alpha 3 4
  • Signal Sequence Receptor, Alpha 2 3
  • SSR-Alpha 3 4
  • TRAPA 3 4
  • Translocon-Associated Protein Alpha Subunit 3
  • Translocon-Associated Protein Alpha 2
  • SSR Alpha Subunit 3
  • TRAP Alpha 3
  • TRAP-Alpha 4

External Ids for SSR1 Gene

Previous GeneCards Identifiers for SSR1 Gene

  • GC06M007272
  • GC06M007232
  • GC06M007157

Summaries for SSR1 Gene

Entrez Gene Summary for SSR1 Gene

  • The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

GeneCards Summary for SSR1 Gene

SSR1 (Signal Sequence Receptor Subunit 1) is a Protein Coding gene. Diseases associated with SSR1 include Osteogenesis Imperfecta, Type Ii. Among its related pathways are Gene Expression and Viral mRNA Translation.

UniProtKB/Swiss-Prot Summary for SSR1 Gene

  • TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins. May be involved in the recycling of the translocation apparatus after completion of the translocation process or may function as a membrane-bound chaperone facilitating folding of translocated proteins.

Gene Wiki entry for SSR1 Gene

Additional gene information for SSR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SSR1 Gene

Genomics for SSR1 Gene

GeneHancer (GH) Regulatory Elements for SSR1 Gene

Promoters and enhancers for SSR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SSR1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SSR1

Top Transcription factor binding sites by QIAGEN in the SSR1 gene promoter:
  • ATF6
  • LCR-F1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • MyoD
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for SSR1 Gene

Genomic Locations for SSR1 Gene
chr6:7,268,306-7,347,446
(GRCh38/hg38)
Size:
79,141 bases
Orientation:
Minus strand
chr6:7,268,539-7,347,679
(GRCh37/hg19)
Size:
79,141 bases
Orientation:
Minus strand

Genomic View for SSR1 Gene

Genes around SSR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SSR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SSR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SSR1 Gene

Proteins for SSR1 Gene

  • Protein details for SSR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43307-SSRA_HUMAN
    Recommended name:
    Translocon-associated protein subunit alpha
    Protein Accession:
    P43307
    Secondary Accessions:
    • A8K685
    • Q53GX2
    • Q53H19
    • Q5TAM3
    • Q6IB43
    • Q8NBH9
    • Q96IA2
    • Q9TNQ8
    • Q9UN49

    Protein attributes for SSR1 Gene

    Size:
    286 amino acids
    Molecular mass:
    32235 Da
    Quaternary structure:
    • Heterotetramer of TRAP-alpha, TRAP-beta, TRAP-delta and TRAP-gamma. Interacts with palmitoylated calnexin (CALX), the interaction is required for efficient folding of glycosylated proteins.
    Miscellaneous:
    • Seems to bind calcium.

    Alternative splice isoforms for SSR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SSR1 Gene

Post-translational modifications for SSR1 Gene

  • Glycosylation at Asn136 and Asn191
  • Ubiquitination at Lys102
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibody Products

No data available for DME Specific Peptides for SSR1 Gene

Domains & Families for SSR1 Gene

Gene Families for SSR1 Gene

Protein Domains for SSR1 Gene

Blocks:
  • Translocon-associated protein (TRAP), alpha subunit
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SSR1 Gene

GenScript: Design optimal peptide antigens:
  • Signal sequence receptor subunit alpha (SSRA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P43307

UniProtKB/Swiss-Prot:

SSRA_HUMAN :
  • Shows a remarkable charge distribution with the N-terminus being highly negatively charged, and the cytoplasmic C-terminus positively charged.
  • Belongs to the TRAP-alpha family.
Domain:
  • Shows a remarkable charge distribution with the N-terminus being highly negatively charged, and the cytoplasmic C-terminus positively charged.
Family:
  • Belongs to the TRAP-alpha family.
genes like me logo Genes that share domains with SSR1: view

Function for SSR1 Gene

Molecular function for SSR1 Gene

UniProtKB/Swiss-Prot Function:
TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins. May be involved in the recycling of the translocation apparatus after completion of the translocation process or may function as a membrane-bound chaperone facilitating folding of translocated proteins.

Phenotypes From GWAS Catalog for SSR1 Gene

Gene Ontology (GO) - Molecular Function for SSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17380188
genes like me logo Genes that share ontologies with SSR1: view
genes like me logo Genes that share phenotypes with SSR1: view

Animal Model Products

CRISPR Products

miRNA for SSR1 Gene

miRTarBase miRNAs that target SSR1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SSR1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SSR1 Gene

Localization for SSR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SSR1 Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SSR1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SSR1: view

Pathways & Interactions for SSR1 Gene

genes like me logo Genes that share pathways with SSR1: view

Gene Ontology (GO) - Biological Process for SSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006613 cotranslational protein targeting to membrane TAS 8050590
GO:0008284 positive regulation of cell proliferation TAS 10437777
GO:0036498 IRE1-mediated unfolded protein response TAS --
genes like me logo Genes that share ontologies with SSR1: view

No data available for SIGNOR curated interactions for SSR1 Gene

Drugs & Compounds for SSR1 Gene

(1) Drugs for SSR1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
genes like me logo Genes that share compounds with SSR1: view

Transcripts for SSR1 Gene

mRNA/cDNA for SSR1 Gene

2 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SSR1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SSR1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b
SP1: - -
SP2: - - - - -
SP3: - -
SP4: - -
SP5: - - -
SP6: -
SP7:

Relevant External Links for SSR1 Gene

GeneLoc Exon Structure for
SSR1

Expression for SSR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SSR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SSR1 Gene

This gene is overexpressed in Nasal epithelium (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SSR1 Gene



Protein tissue co-expression partners for SSR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SSR1

SOURCE GeneReport for Unigene cluster for SSR1 Gene:

Hs.114033

Evidence on tissue expression from TISSUES for SSR1 Gene

  • Liver(4.7)
  • Nervous system(4.4)
  • Skin(3.4)
  • Lung(2.8)
  • Intestine(2.7)
  • Muscle(2)
genes like me logo Genes that share expression patterns with SSR1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SSR1 Gene

Orthologs for SSR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SSR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SSR1 31 30
  • 99.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SSR1 31 30
  • 93.84 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ssr1 17 31 30
  • 90.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SSR1 31
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ssr1 30
  • 89.74 (n)
cow
(Bos Taurus)
Mammalia SSR1 31 30
  • 88.64 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SSR1 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SSR1 31 30
  • 82.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SSR1 31
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ssr1 30
  • 75.65 (n)
Str.2403 30
African clawed frog
(Xenopus laevis)
Amphibia MGC64448 30
zebrafish
(Danio rerio)
Actinopterygii ssr1 31 30 30
  • 70.38 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11586 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001721 30
  • 55.25 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(1)G0320 31 30
  • 53.94 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea trap-1 31 30
  • 49.38 (n)
OneToOne
Y71F9AM.6 32
  • 37 (a)
Species where no ortholog for SSR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SSR1 Gene

ENSEMBL:
Gene Tree for SSR1 (if available)
TreeFam:
Gene Tree for SSR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SSR1: view image

Paralogs for SSR1 Gene

Pseudogenes.org Pseudogenes for SSR1 Gene

genes like me logo Genes that share paralogs with SSR1: view

No data available for Paralogs for SSR1 Gene

Variants for SSR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SSR1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs10004 - p.Leu28Ser

Additional dbSNP identifiers (rs#s) for SSR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SSR1 Gene

Variant ID Type Subtype PubMed ID
esv3890787 CNV loss 25118596
nsv1029748 CNV gain 25217958
nsv1133014 OTHER inversion 24896259
nsv1151332 OTHER inversion 26484159
nsv462623 CNV gain 19166990
nsv470797 CNV gain 18288195
nsv600890 CNV gain 21841781
nsv981350 CNV duplication 23825009

Variation tolerance for SSR1 Gene

Residual Variation Intolerance Score: 46.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.25; 81.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SSR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SSR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SSR1 Gene

Disorders for SSR1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SSR1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type ii
  • oi2
- elite association - COSMIC cancer census association via MalaCards
Search SSR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SSR1

genes like me logo Genes that share disorders with SSR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SSR1 Gene

Publications for SSR1 Gene

  1. Translocon-associated protein alpha transcripts are induced by granulocyte-macrophage colony-stimulating factor and exhibit complex alternative polyadenylation. (PMID: 10437777) Hirama T … Koeffler HP (FEBS letters 1999) 3 4 23 54
  2. Palmitoylated calnexin is a key component of the ribosome-translocon complex. (PMID: 22314232) Lakkaraju AK … van der Goot FG (The EMBO journal 2012) 3 4 54
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  4. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for SSR1 Gene

Sources for SSR1 Gene