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Aliases for SSR4 Gene

Aliases for SSR4 Gene

  • Signal Sequence Receptor Subunit 4 2 3 5
  • Signal Sequence Receptor, Delta 2 3
  • TRAP-Delta 3 4
  • SSR-Delta 3 4
  • TRAPD 3 4
  • Translocon-Associated Protein Subunit Delta 3
  • Signal Sequence Receptor Subunit Delta 4
  • Translocon-Associated Protein Delta 2
  • CDG1Y 3

External Ids for SSR4 Gene

Previous GeneCards Identifiers for SSR4 Gene

  • GC0XP147197
  • GC0XP149515
  • GC0XP150644
  • GC0XP151526
  • GC0XP151527
  • GC0XP152579
  • GC0XP152712
  • GC0XP153058
  • GC0XP141717

Summaries for SSR4 Gene

Entrez Gene Summary for SSR4 Gene

  • This gene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 region and is arranged in a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene and both genes are driven by a CpG-embedded bidirectional promoter. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]

GeneCards Summary for SSR4 Gene

SSR4 (Signal Sequence Receptor Subunit 4) is a Protein Coding gene. Diseases associated with SSR4 include Congenital Disorder Of Glycosylation, Type Iy and Ssr4-Cdg. Among its related pathways are Protein processing in endoplasmic reticulum and Gene Expression.

UniProtKB/Swiss-Prot for SSR4 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.

Gene Wiki entry for SSR4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SSR4 Gene

Genomics for SSR4 Gene

Regulatory Elements for SSR4 Gene

Enhancers for SSR4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG153886 0.9 FANTOM5 ENCODE 13.2 +93.5 93452 1.3 ZNF263 MAZ KLF1 ZIC2 GATA3 ZBTB48 GATA2 IKZF1 EGR2 EZH2 RENBP TMEM187 PDZD4 IDH3G SSR4 SRPK3 PLXNB3 NAA10 ARHGAP4 BCAP31
GH0XG153844 0.5 ENCODE 13.7 +52.2 52164 1.8 ZNF316 PBX2 MAFG EMSY MAFK SSR4 IDH3G SRPK3 PLXNB3 L1CAM ABCD1 BCAP31 FAM3A CYCSP45 GC0XM153869
GH0XG153854 0.4 ENCODE 13.5 +61.3 61345 0.2 CTCF HLF L1CAM PDZD4 AVPR2 SSR4 IDH3G SRPK3 PLXNB3 BCAP31 ABCD1 CYCSP45
GH0XG153792 1.1 ENCODE 0.7 +0.9 863 3.3 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 FOS PLXNB3 SRPK3 SSR4 IDH3G
GH0XG153780 1 Ensembl ENCODE 0.4 -11.9 -11926 2.5 HDGF CTCF KLF1 AGO1 ZIC2 BCL11B RAD21 ZFHX2 GLIS2 ELK1 PLXNB3 SRPK3 SSR4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SSR4 on UCSC Golden Path with GeneCards custom track

Promoters for SSR4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000249598 984 2601 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 FOS

Genomic Location for SSR4 Gene

Chromosome:
X
Start:
153,793,516 bp from pter
End:
153,798,512 bp from pter
Size:
4,997 bases
Orientation:
Plus strand

Genomic View for SSR4 Gene

Genes around SSR4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SSR4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SSR4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SSR4 Gene

Proteins for SSR4 Gene

  • Protein details for SSR4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51571-SSRD_HUMAN
    Recommended name:
    Translocon-associated protein subunit delta
    Protein Accession:
    P51571
    Secondary Accessions:
    • A8K378
    • Q53XY1

    Protein attributes for SSR4 Gene

    Size:
    173 amino acids
    Molecular mass:
    18999 Da
    Quaternary structure:
    • Heterotetramer of TRAP-alpha, TRAP-beta, TRAP-delta and TRAP-gamma.

neXtProt entry for SSR4 Gene

Post-translational modifications for SSR4 Gene

  • Ubiquitination at Lys73 and posLast=9595
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SSR4 Gene

Domains & Families for SSR4 Gene

Protein Domains for SSR4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SSR4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P51571

UniProtKB/Swiss-Prot:

SSRD_HUMAN :
  • Belongs to the TRAP-delta family.
Family:
  • Belongs to the TRAP-delta family.
genes like me logo Genes that share domains with SSR4: view

No data available for Gene Families for SSR4 Gene

Function for SSR4 Gene

Molecular function for SSR4 Gene

GENATLAS Biochemistry:
signal sequence receptor delta,with an alternative polyadenylation site,expressed in many tissues
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.
genes like me logo Genes that share phenotypes with SSR4: view

Human Phenotype Ontology for SSR4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for SSR4 Gene

miRTarBase miRNAs that target SSR4

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for SSR4 Gene

Localization for SSR4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SSR4 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 SSR4 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 2

Gene Ontology (GO) - Cellular Components for SSR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005784 Sec61 translocon complex NAS 7492314
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with SSR4: view

Pathways & Interactions for SSR4 Gene

genes like me logo Genes that share pathways with SSR4: view

Pathways by source for SSR4 Gene

Gene Ontology (GO) - Biological Process for SSR4 Gene

None

No data available for SIGNOR curated interactions for SSR4 Gene

Drugs & Compounds for SSR4 Gene

(1) Drugs for SSR4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with SSR4: view

Transcripts for SSR4 Gene

Unigene Clusters for SSR4 Gene

Signal sequence receptor, delta:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SSR4 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b
SP1: - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - -
SP4: -
SP5: - - - - - - - -
SP6: - - - - - - - - - - -
SP7:
SP8: - - - - - - -
SP9: - - - -
SP10: - - - - - - - - - - - -
SP11: - - - -
SP12: -

Relevant External Links for SSR4 Gene

GeneLoc Exon Structure for
SSR4
ECgene alternative splicing isoforms for
SSR4

Expression for SSR4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SSR4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SSR4 Gene

This gene is overexpressed in Pancreas (x4.1).

Protein differential expression in normal tissues from HIPED for SSR4 Gene

This gene is overexpressed in Nasal epithelium (9.8) and Bone (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SSR4 Gene



Protein tissue co-expression partners for SSR4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SSR4 Gene:

SSR4

SOURCE GeneReport for Unigene cluster for SSR4 Gene:

Hs.409223

Evidence on tissue expression from TISSUES for SSR4 Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Spleen(4.4)
  • Blood(4.3)
  • Lung(3.1)
  • Pancreas(3.1)
  • Stomach(2.5)
  • Intestine(2.4)
  • Bone marrow(2.2)
  • Lymph node(2.2)
  • Skin(2.2)
  • Adrenal gland(2.1)
  • Thyroid gland(2.1)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SSR4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • chin
  • ear
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
Thorax:
  • heart
Pelvis:
  • penis
  • urethra
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with SSR4: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SSR4 Gene

Orthologs for SSR4 Gene

This gene was present in the common ancestor of animals.

Orthologs for SSR4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SSR4 34 35
  • 99.09 (n)
dog
(Canis familiaris)
Mammalia SSR4 34 35
  • 90.67 (n)
cow
(Bos Taurus)
Mammalia SSR4 34 35
  • 88 (n)
rat
(Rattus norvegicus)
Mammalia Ssr4 34
  • 87.56 (n)
mouse
(Mus musculus)
Mammalia Ssr4 34 16 35
  • 86.44 (n)
oppossum
(Monodelphis domestica)
Mammalia SSR4 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 70 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia SSR4 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ssr4 34
  • 72 (n)
zebrafish
(Danio rerio)
Actinopterygii ssr4 34 35
  • 67.33 (n)
wufe06a08 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9584 34
fruit fly
(Drosophila melanogaster)
Insecta Tapdelta 34 35
  • 49.3 (n)
worm
(Caenorhabditis elegans)
Secernentea trap-4 34 35
  • 49.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7940 35
  • 40 (a)
OneToOne
Species where no ortholog for SSR4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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 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 SSR4 Gene

ENSEMBL:
Gene Tree for SSR4 (if available)
TreeFam:
Gene Tree for SSR4 (if available)

Paralogs for SSR4 Gene

Pseudogenes.org Pseudogenes for SSR4 Gene

genes like me logo Genes that share paralogs with SSR4: view

No data available for Paralogs for SSR4 Gene

Variants for SSR4 Gene

Sequence variations from dbSNP and Humsavar for SSR4 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1057518734 Pathogenic 153,798,077(+) CTCAG(-/AG)GAATA nc-transcript-variant, reference, frameshift-variant
rs1057518735 Pathogenic 153,798,137(+) ATCGG(A/G)TGAGT splice-donor-variant
rs1057518736 Pathogenic 153,798,328(+) TTTCA(A/G)GGCAC splice-acceptor-variant
rs606231298 Pathogenic 153,797,780(+) TAGAT(-/T)CTTCG nc-transcript-variant, reference, frameshift-variant
rs797045179 Pathogenic 153,797,779(+) TTAGA(-/T)TCTTC nc-transcript-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for SSR4 Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV gain+loss 17666407

Variation tolerance for SSR4 Gene

Residual Variation Intolerance Score: 25.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.25; 5.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SSR4 Gene

Human Gene Mutation Database (HGMD)
SSR4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SSR4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SSR4 Gene

Disorders for SSR4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SSR4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iy
  • ssr4-cdg
ssr4-cdg
  • carbohydrate deficient glycoprotein syndrome type iy
terminal osseous dysplasia
  • tod
- elite association - COSMIC cancer census association via MalaCards
Search SSR4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SSRD_HUMAN
  • Congenital disorder of glycosylation 1Y (CDG1Y) [MIM:300934]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269 PubMed:24218363}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SSR4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SSR4
genes like me logo Genes that share disorders with SSR4: view

No data available for Genatlas for SSR4 Gene

Publications for SSR4 Gene

  1. Genomic organization of two novel genes on human Xq28: compact head to head arrangement of IDH gamma and TRAP delta is conserved in rat and mouse. (PMID: 9286695) Brenner V. … Platzer M. (Genomics 1997) 2 3 4 22 64
  2. NEDL1, a novel ubiquitin-protein isopeptide ligase for dishevelled-1, targets mutant superoxide dismutase-1. (PMID: 14684739) Miyazaki K. … Nakagawara A. (J. Biol. Chem. 2004) 3 22 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Cloning and molecular characterization of a human ortholog of Monodelphis TRAPD in ultraviolet B-induced melanoma. (PMID: 15057039) Wang Z. … VandeBerg J.L. (Melanoma Res. 2004) 3 22 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for SSR4 Gene

Sources for SSR4 Gene

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