Aliases for SERINC5 Gene

Aliases for SERINC5 Gene

  • Serine Incorporator 5 2 3 4 5
  • C5orf12 3 4
  • Chromosome 5 Open Reading Frame 12 2
  • TPO1 3

External Ids for SERINC5 Gene

Previous HGNC Symbols for SERINC5 Gene

  • C5orf12

Previous GeneCards Identifiers for SERINC5 Gene

  • GC05M079479
  • GC05M074614
  • GC05M079407

Summaries for SERINC5 Gene

GeneCards Summary for SERINC5 Gene

SERINC5 (Serine Incorporator 5) is a Protein Coding gene. Diseases associated with SERINC5 include Branchiootic Syndrome. Among its related pathways are Amino acid synthesis and interconversion (transamination) and Metabolism. Gene Ontology (GO) annotations related to this gene include L-serine transmembrane transporter activity. An important paralog of this gene is SERINC4.

UniProtKB/Swiss-Prot Summary for SERINC5 Gene

  • Restriction factor required to restrict infectivity of lentiviruses, such as HIV-1: acts by inhibiting an early step of viral infection. Impairs the penetration of the viral particle into the cytoplasm (PubMed:26416733, PubMed:26416734). Enhances the incorporation of serine into phosphatidylserine and sphingolipids. May play a role in providing serine molecules for the formation of myelin glycosphingolipids in oligodendrocytes (By similarity).

Additional gene information for SERINC5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERINC5 Gene

Genomics for SERINC5 Gene

GeneHancer (GH) Regulatory Elements for SERINC5 Gene

Promoters and enhancers for SERINC5 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 SERINC5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERINC5

Top Transcription factor binding sites by QIAGEN in the SERINC5 gene promoter:
  • AML1a
  • AREB6
  • Ik-2
  • LUN-1
  • Msx-1
  • MyoD
  • NRF-2
  • RelA
  • STAT1
  • STAT3

Genomic Locations for SERINC5 Gene

Genomic Locations for SERINC5 Gene
chr5:80,111,227-80,256,082
(GRCh38/hg38)
Size:
144,856 bases
Orientation:
Minus strand
chr5:79,407,050-79,551,898
(GRCh37/hg19)
Size:
144,849 bases
Orientation:
Minus strand

Genomic View for SERINC5 Gene

Genes around SERINC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERINC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERINC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERINC5 Gene

Proteins for SERINC5 Gene

  • Protein details for SERINC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86VE9-SERC5_HUMAN
    Recommended name:
    Serine incorporator 5
    Protein Accession:
    Q86VE9
    Secondary Accessions:
    • B4DMH7
    • Q495A4
    • Q495A6

    Protein attributes for SERINC5 Gene

    Size:
    423 amino acids
    Molecular mass:
    47009 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SERINC5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERINC5 Gene

Post-translational modifications for SERINC5 Gene

  • Glycosylation at Asn113 and Asn183
  • Ubiquitination at Lys373
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SERINC5 Gene

Domains & Families for SERINC5 Gene

Gene Families for SERINC5 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SERINC5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SERINC5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52665, highly similar to Homo sapiens serine incorporator 5 (SERINC5), mRNA (B4DMH7_HUMAN)
  • Serine incorporator 5 (SERC5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86VE9

UniProtKB/Swiss-Prot:

SERC5_HUMAN :
  • Belongs to the TDE1 family.
Family:
  • Belongs to the TDE1 family.
genes like me logo Genes that share domains with SERINC5: view

Function for SERINC5 Gene

Molecular function for SERINC5 Gene

UniProtKB/Swiss-Prot Function:
Restriction factor required to restrict infectivity of lentiviruses, such as HIV-1: acts by inhibiting an early step of viral infection. Impairs the penetration of the viral particle into the cytoplasm (PubMed:26416733, PubMed:26416734). Enhances the incorporation of serine into phosphatidylserine and sphingolipids. May play a role in providing serine molecules for the formation of myelin glycosphingolipids in oligodendrocytes (By similarity).

Phenotypes From GWAS Catalog for SERINC5 Gene

genes like me logo Genes that share phenotypes with SERINC5: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SERINC5

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SERINC5 Gene

Localization for SERINC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERINC5 Gene

Cell membrane; Multi-pass membrane protein.
Cytoplasm, perinuclear region. Note=(Microbial infection) Upon HIV-1 infection, it is redirected to perinuclear region following interaction with HIV-1 Nef, excluding it from virions particles, thereby preventing subsequent antiviral defense activity (PubMed:26416733, PubMed:26416734). Localizes to the cell membrane, where it is efficiently incorporated into budding virions and impairs subsequent virion entry into target cells (PubMed:26416733, PubMed:26416734). {ECO:0000269 PubMed:26416734, ECO:0000305 PubMed:26416733}.

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 SERINC5 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
cytosol 4
golgi apparatus 3
nucleus 2
endosome 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
  • Centrosome (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SERINC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005813 centrosome IDA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with SERINC5: view

Pathways & Interactions for SERINC5 Gene

genes like me logo Genes that share pathways with SERINC5: view

Interacting Proteins for SERINC5 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 15)
STRING Interaction Network
Selected Interacting proteins: ENSP00000426237 Q86VE9-SERC5_HUMAN for SERINC5 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for SERINC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006564 L-serine biosynthetic process TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006658 phosphatidylserine metabolic process ISS --
GO:0006665 sphingolipid metabolic process IEA --
GO:0008654 phospholipid biosynthetic process IEA --
genes like me logo Genes that share ontologies with SERINC5: view

No data available for SIGNOR curated interactions for SERINC5 Gene

Drugs & Compounds for SERINC5 Gene

(124) Additional Compounds for SERINC5 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PS(14:0/14:0)
  • 1-Myristoyl-2-myristoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:0)
  • Phosphatidylserine(28:0)
  • PS(28:0)
  • pSer(14:0/14:0)
PS(14:0/14:1(9Z))
  • 1-Myristoyl-2-myristoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:1)
  • Phosphatidylserine(14:0/14:1n5)
  • Phosphatidylserine(14:0/14:1W5)
  • Phosphatidylserine(28:1)
PS(14:0/16:0)
  • 1-Myristoyl-2-palmitoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:0)
  • Phosphatidylserine(30:0)
  • PS(30:0)
  • pSer(14:0/16:0)
PS(14:0/16:1(9Z))
  • 1-Myristoyl-2-palmitoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:1)
  • Phosphatidylserine(14:0/16:1n7)
  • Phosphatidylserine(14:0/16:1W7)
  • Phosphatidylserine(30:1)
PS(14:0/18:0)
  • 1-Myristoyl-2-stearoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/18:0)
  • Phosphatidylserine(32:0)
  • PS(32:0)
  • pSer(14:0/18:0)
genes like me logo Genes that share compounds with SERINC5: view

Transcripts for SERINC5 Gene

mRNA/cDNA for SERINC5 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SERINC5 Gene

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

Relevant External Links for SERINC5 Gene

GeneLoc Exon Structure for
SERINC5

Expression for SERINC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERINC5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SERINC5 Gene

This gene is overexpressed in Retina (15.1), Ovary (10.4), Spinal cord (8.0), and Prostate (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SERINC5 Gene



Protein tissue co-expression partners for SERINC5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERINC5

SOURCE GeneReport for Unigene cluster for SERINC5 Gene:

Hs.288232

mRNA Expression by UniProt/SwissProt for SERINC5 Gene:

Q86VE9-SERC5_HUMAN
Tissue specificity: Highly expressed in placenta, skeletal muscle, spleen, thymus, testis and peripheral leukocyte and is expressed weakly in the heart, liver and fetal brain.

Evidence on tissue expression from TISSUES for SERINC5 Gene

  • Nervous system(4.3)
  • Thyroid gland(2.2)
genes like me logo Genes that share expression patterns with SERINC5: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SERINC5 Gene

Orthologs for SERINC5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SERINC5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SERINC5 31 30
  • 99.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SERINC5 31 30
  • 87.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SERINC5 31 30
  • 86.27 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Serinc5 17 31 30
  • 82.54 (n)
rat
(Rattus norvegicus)
Mammalia Serinc5 30
  • 82.32 (n)
oppossum
(Monodelphis domestica)
Mammalia SERINC5 31
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SERINC5 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERINC5 31 30
  • 73.75 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SERINC5 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia serinc5 30
  • 68.26 (n)
Str.11510 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7097 30
zebrafish
(Danio rerio)
Actinopterygii serinc5 31 30
  • 64.4 (n)
OneToOne
Dr.7467 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.659 30
fruit fly
(Drosophila melanogaster)
Insecta TMS1 31
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R11H6.2 31
  • 37 (a)
ManyToMany
Y57E12AL.1 31
  • 34 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TMS1 31
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToMany
Cin.5552 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5552 30
Species where no ortholog for SERINC5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 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 SERINC5 Gene

ENSEMBL:
Gene Tree for SERINC5 (if available)
TreeFam:
Gene Tree for SERINC5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERINC5: view image

Paralogs for SERINC5 Gene

Paralogs for SERINC5 Gene

(6) SIMAP similar genes for SERINC5 Gene using alignment to 2 proteins:

  • SERC5_HUMAN
  • D6RHG7_HUMAN
genes like me logo Genes that share paralogs with SERINC5: view

Variants for SERINC5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERINC5 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
708426 Benign: not provided 80,158,940(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
768009 Benign: not provided 80,177,405(-) T/TG INTRON_VARIANT
782703 Benign: not provided 80,169,461(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
791260 Benign: not provided 80,146,107(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SERINC5 Gene

Structural Variations from Database of Genomic Variants (DGV) for SERINC5 Gene

Variant ID Type Subtype PubMed ID
dgv1108e214 CNV gain 21293372
esv2677189 CNV deletion 23128226
esv2678473 CNV deletion 23128226
esv2730364 CNV deletion 23290073
esv3416558 CNV insertion 20981092
esv3605549 CNV loss 21293372
esv3605550 CNV loss 21293372
esv3605551 CNV loss 21293372
esv3605552 CNV gain 21293372
esv3605553 CNV loss 21293372
esv3605554 CNV loss 21293372
esv3605555 CNV gain 21293372
esv3605556 CNV loss 21293372
esv3605560 CNV loss 21293372
esv3605561 CNV loss 21293372
esv3605562 CNV loss 21293372
esv3605563 CNV loss 21293372
esv3605564 CNV loss 21293372
nsv516093 CNV loss 19592680
nsv598744 CNV gain 21841781

Variation tolerance for SERINC5 Gene

Residual Variation Intolerance Score: 32.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.82; 58.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERINC5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERINC5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERINC5 Gene

Disorders for SERINC5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SERINC5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
branchiootic syndrome
  • branchiootic syndrome 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SERINC5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SERINC5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SERINC5 Gene

Publications for SERINC5 Gene

  1. Cloning and expression of a novel human C5orf12 gene*, a member of the TMS_TDE family. (PMID: 12688535) Xu J … Mao Y (Molecular biology reports 2003) 2 3 4 54
  2. SERINC3 and SERINC5 restrict HIV-1 infectivity and are counteracted by Nef. (PMID: 26416733) Usami Y … Göttlinger HG (Nature 2015) 3 4 54
  3. HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation. (PMID: 26416734) Rosa A … Pizzato M (Nature 2015) 3 4 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54

Products for SERINC5 Gene

Sources for SERINC5 Gene