Aliases for SCAMP5 Gene

Aliases for SCAMP5 Gene

  • Secretory Carrier Membrane Protein 5 2 3 4 5
  • Secretory Carrier-Associated Membrane Protein 5 3 4
  • HSCAMP5 3 4
  • MGC24969 2
  • SCAMP5 5

External Ids for SCAMP5 Gene

Previous GeneCards Identifiers for SCAMP5 Gene

  • GC15P071137
  • GC15P068402
  • GC15P072863
  • GC15P073003
  • GC15P073074
  • GC15P075287
  • GC15P052084

Summaries for SCAMP5 Gene

GeneCards Summary for SCAMP5 Gene

SCAMP5 (Secretory Carrier Membrane Protein 5) is a Protein Coding gene. Diseases associated with SCAMP5 include Autosomal Recessive Non-Syndromic Intellectual Disability. An important paralog of this gene is SCAMP4.

UniProtKB/Swiss-Prot Summary for SCAMP5 Gene

  • Required for the calcium-dependent exocytosis of signal sequence-containing cytokines such as CCL5. Probably acts in cooperation with the SNARE machinery. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) in case of endoplasmic reticulum stress by inhibiting the endocytosis pathway.

Gene Wiki entry for SCAMP5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SCAMP5 Gene

Genomics for SCAMP5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SCAMP5 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 SCAMP5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SCAMP5

Top Transcription factor binding sites by QIAGEN in the SCAMP5 gene promoter:
  • AML1a
  • C/EBPbeta
  • Egr-4
  • HSF2
  • NRSF form 1
  • NRSF form 2
  • p300
  • PPAR-gamma1
  • SRF
  • SRF (504 AA)

Genomic Locations for SCAMP5 Gene

Latest Assembly
chr15:74,957,219-75,021,495
(GRCh38/hg38)
Size:
64,277 bases
Orientation:
Plus strand

Previous Assembly
chr15:75,287,904-75,313,836
(GRCh37/hg19 by Entrez Gene)
Size:
25,933 bases
Orientation:
Plus strand

chr15:75,249,560-75,313,837
(GRCh37/hg19 by Ensembl)
Size:
64,278 bases
Orientation:
Plus strand

Genomic View for SCAMP5 Gene

Genes around SCAMP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCAMP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCAMP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCAMP5 Gene

Proteins for SCAMP5 Gene

  • Protein details for SCAMP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAC9-SCAM5_HUMAN
    Recommended name:
    Secretory carrier-associated membrane protein 5
    Protein Accession:
    Q8TAC9
    Secondary Accessions:
    • B3KPJ7
    • B7Z762
    • D3DW71
    • Q8N3M4

    Protein attributes for SCAMP5 Gene

    Size:
    235 amino acids
    Molecular mass:
    26104 Da
    Quaternary structure:
    • Interacts (via C-terminal part) with SYT1 and SYT2; interaction with synaptotagmins making a link with the SNARE molecules. Interacts with SLC9A7.

    Alternative splice isoforms for SCAMP5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCAMP5 Gene

Post-translational modifications for SCAMP5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SCAMP5 Gene

Domains & Families for SCAMP5 Gene

Gene Families for SCAMP5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SCAMP5 Gene

InterPro:

Suggested Antigen Peptide Sequences for SCAMP5 Gene

GenScript: Design optimal peptide antigens:
  • Secretory carrier-associated membrane protein 5 (SCAM5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TAC9

UniProtKB/Swiss-Prot:

SCAM5_HUMAN :
  • Belongs to the SCAMP family. SCAMP5 subfamily.
Family:
  • Belongs to the SCAMP family. SCAMP5 subfamily.
genes like me logo Genes that share domains with SCAMP5: view

Function for SCAMP5 Gene

Molecular function for SCAMP5 Gene

UniProtKB/Swiss-Prot Function:
Required for the calcium-dependent exocytosis of signal sequence-containing cytokines such as CCL5. Probably acts in cooperation with the SNARE machinery. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) in case of endoplasmic reticulum stress by inhibiting the endocytosis pathway.
UniProtKB/Swiss-Prot Induction:
By endoplasmic reticulum stress.

Phenotypes From GWAS Catalog for SCAMP5 Gene

Gene Ontology (GO) - Molecular Function for SCAMP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15840657
GO:0044877 protein-containing complex binding IDA 19234194
genes like me logo Genes that share ontologies with SCAMP5: view
genes like me logo Genes that share phenotypes with SCAMP5: view

Animal Models for SCAMP5 Gene

MGI Knock Outs for SCAMP5:
  • Scamp5 Scamp5<tm1.1(KOMP)Vlcg>

Animal Models for research

  • Taconic Biosciences Mouse Models for SCAMP5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCAMP5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SCAMP5 Gene

Localization for SCAMP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCAMP5 Gene

Cell membrane. Multi-pass membrane protein. Golgi apparatus membrane. Multi-pass membrane protein. Golgi apparatus, trans-Golgi network membrane. Multi-pass membrane protein. Recycling endosome membrane. Multi-pass membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Multi-pass membrane protein. Note=Mainly localizes in Golgi apparatus membrane. Upon calcium-triggered exocytosis, it translocates to the cell membrane. Highly enriched in synaptic vesicles (By similarity). {ECO:0000250}.

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 SCAMP5 gene
Compartment Confidence
plasma membrane 5
endosome 5
golgi apparatus 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SCAMP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA,IDA 19234194
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IEA,IDA 19234194
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SCAMP5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SCAMP5 Gene

Pathways & Interactions for SCAMP5 Gene

PathCards logo

SuperPathways for SCAMP5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SCAMP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001819 positive regulation of cytokine production IDA 19234194
GO:0006887 exocytosis IEA --
GO:0015031 protein transport IEA,IBA 21873635
GO:0034976 response to endoplasmic reticulum stress IDA 19240033
GO:0045806 negative regulation of endocytosis IDA 19240033
genes like me logo Genes that share ontologies with SCAMP5: view

No data available for Pathways by source and SIGNOR curated interactions for SCAMP5 Gene

Drugs & Compounds for SCAMP5 Gene

No Compound Related Data Available

Transcripts for SCAMP5 Gene

mRNA/cDNA for SCAMP5 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCAMP5

Alternative Splicing Database (ASD) splice patterns (SP) for SCAMP5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b
SP1: - - -
SP2: - - -
SP3: - - - -
SP4: - - - - - -
SP5: - - -
SP6: - - -

Relevant External Links for SCAMP5 Gene

GeneLoc Exon Structure for
SCAMP5

Expression for SCAMP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SCAMP5 Gene

mRNA differential expression in normal tissues according to GTEx for SCAMP5 Gene

This gene is overexpressed in Brain - Cortex (x6.3), Brain - Frontal Cortex (BA9) (x5.7), Brain - Anterior cingulate cortex (BA24) (x5.1), and Brain - Cerebellum (x4.1).

Protein differential expression in normal tissues from HIPED for SCAMP5 Gene

This gene is overexpressed in Retina (26.5), Frontal cortex (20.4), and Fetal Brain (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SCAMP5 Gene



Protein tissue co-expression partners for SCAMP5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SCAMP5

SOURCE GeneReport for Unigene cluster for SCAMP5 Gene:

Hs.374180

mRNA Expression by UniProt/SwissProt for SCAMP5 Gene:

Q8TAC9-SCAM5_HUMAN
Tissue specificity: Expressed both by neuronal and non-neuronal tissues. Expressed in brain, stomach, thyroid, spinal cord, lymph node, trachea, adrenal gland, bone marrow and in the different parts of brain. In thyroid tissues, it is expressed by the follicular epithelial cells. In the adrenal gland tissues it is detected in the zona fasciculata of the cortex region (at protein level).

Evidence on tissue expression from TISSUES for SCAMP5 Gene

  • Nervous system(5)
genes like me logo Genes that share expression patterns with SCAMP5: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for SCAMP5 Gene

Orthologs for SCAMP5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SCAMP5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SCAMP5 29 30
  • 99.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SCAMP5 29 30
  • 94.18 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SCAMP5 29 30
  • 92.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Scamp5 29 16 30
  • 92.77 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Scamp5 29
  • 92.06 (n)
Oppossum
(Monodelphis domestica)
Mammalia SCAMP5 30
  • 89 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SCAMP5 30
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SCAMP5 29 30
  • 83.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SCAMP5 30
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia scamp4 29
  • 74.18 (n)
Str.2318 29
Zebrafish
(Danio rerio)
Actinopterygii scamp5a 29 30
  • 75.65 (n)
OneToMany
SCAMP5 (2 of 2) 30
  • 69 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Scamp 30
  • 29 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea scm-1 30
  • 27 (a)
OneToMany
Species where no ortholog for SCAMP5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 SCAMP5 Gene

ENSEMBL:
Gene Tree for SCAMP5 (if available)
TreeFam:
Gene Tree for SCAMP5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SCAMP5: view image
Alliance of Genome Resources:
Additional Orthologs for SCAMP5

Paralogs for SCAMP5 Gene

Paralogs for SCAMP5 Gene

(4) SIMAP similar genes for SCAMP5 Gene using alignment to 10 proteins:

  • SCAM5_HUMAN
  • H3BMY4_HUMAN
  • H3BNB3_HUMAN
  • H3BNH7_HUMAN
  • H3BNW6_HUMAN
  • H3BP89_HUMAN
  • H3BS22_HUMAN
  • H3BT30_HUMAN
  • H3BTD1_HUMAN
  • H3BU33_HUMAN
genes like me logo Genes that share paralogs with SCAMP5: view

Variants for SCAMP5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SCAMP5 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
872248 Pathogenic/Likely Pathogenic: Inborn genetic diseases; not provided 75,018,813(+) G/T
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
983558 Uncertain Significance: not provided 75,016,727(+) C/T
NM_138967.4(SCAMP5):c.271C>T (p.Arg91Trp)
MISSENSE
rs60910940 Benign: not provided 75,012,717(+) G/T
NM_138967.4(SCAMP5):c.48G>T (p.Pro16=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SCAMP5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SCAMP5 Gene

Variant ID Type Subtype PubMed ID
nsv1116085 CNV deletion 24896259
nsv1121512 CNV deletion 24896259
nsv527237 CNV loss 19592680
nsv569993 CNV gain 21841781

Variation tolerance for SCAMP5 Gene

Residual Variation Intolerance Score: 28.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SCAMP5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCAMP5
Leiden Open Variation Database (LOVD)
SCAMP5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCAMP5 Gene

Disorders for SCAMP5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SCAMP5 Gene - From: COP

Disorder Aliases PubMed IDs
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SCAMP5

genes like me logo Genes that share disorders with SCAMP5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SCAMP5 Gene

Publications for SCAMP5 Gene

  1. SCAMP5 links endoplasmic reticulum stress to the accumulation of expanded polyglutamine protein aggregates via endocytosis inhibition. (PMID: 19240033) Noh JY … Jung YK (The Journal of biological chemistry 2009) 2 3 4
  2. Secretory carrier membrane proteins interact and regulate trafficking of the organellar (Na+,K+)/H+ exchanger NHE7. (PMID: 15840657) Lin PJ … Numata M (Journal of cell science 2005) 2 3 4
  3. Human SCAMP5, a novel secretory carrier membrane protein, facilitates calcium-triggered cytokine secretion by interaction with SNARE machinery. (PMID: 19234194) Han C … Cao X (Journal of immunology (Baltimore, Md. : 1950) 2009) 3 4
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for SCAMP5 Gene

Sources for SCAMP5 Gene