Aliases for SERINC1 Gene

Aliases for SERINC1 Gene

  • Serine Incorporator 1 2 3 4 5
  • TDE1L 2 3 4
  • Tumor Differentially Expressed Protein 2 3 4
  • KIAA1253 2 4
  • TMS-2 2 3
  • TDE2 3 4
  • Tumor Differentially Expressed Protein 1-Like 4
  • Tumor Differentially Expressed 2 2
  • SERINC1 5
  • TMS2 3

External Ids for SERINC1 Gene

Previous HGNC Symbols for SERINC1 Gene

  • TDE2

Previous GeneCards Identifiers for SERINC1 Gene

  • GC06M122807
  • GC06M120341

Summaries for SERINC1 Gene

GeneCards Summary for SERINC1 Gene

SERINC1 (Serine Incorporator 1) is a Protein Coding gene. Diseases associated with SERINC1 include Rapp-Hodgkin Syndrome and Griscelli Syndrome, Type 1. 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 SERINC3.

UniProtKB/Swiss-Prot Summary for SERINC1 Gene

  • Enhances the incorporation of serine into phosphatidylserine and sphingolipids.

Gene Wiki entry for SERINC1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERINC1 Gene

Genomics for SERINC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SERINC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J122470 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.5 506 3 SP1 IKZF1 KLF9 CEBPA POLR2A ZSCAN16 ZBTB10 YY1 MXD4 CTCF PKIB ENSG00000279114 HSALNG0053207 SERINC1 HSF2 HSALNG0053206 HSALNG0053205
GH06J122609 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 11 -139.1 -139088 3 ZNF580 ATF2 ZSCAN16 POLR2A ZIC2 YY1 BHLHE40 FEZF1 HOMEZ CTCF PKIB SERINC1 HSF2 SMPDL3A ENSG00000287258 piR-53030-002 FABP7
GH06J122620 Enhancer 0.9 Ensembl ENCODE 10.9 -149.5 -149509 1.6 JUND ZNF217 MBD2 FOXA2 CTBP1 FOSL2 NFE2 PRDM6 GATA3 TCF7L2 ENSG00000287258 SERINC1 ENSG00000272472 FABP7 PKIB
GH06J122622 Enhancer 0.7 Ensembl 10.9 -150.9 -150894 0.6 NFIC ZNF341 MBD2 CTBP1 CUX1 GATA3 TCF7L2 ZNF217 POLR2A LCORL ENSG00000287258 SERINC1 PKIB ENSG00000272472 FABP7
GH06J122530 Enhancer 0.6 ENCODE 11.6 -58.8 -58844 0.1 BCLAF1 ZNF654 CTCF REST TRIM22 RAD21 SMC3 ZNF2 ZNF143 ARID2 ENSG00000277408 HSALNG0053209 SERINC1 HSALNG0053206 PKIB FABP7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERINC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERINC1

Top Transcription factor binding sites by QIAGEN in the SERINC1 gene promoter:
  • Brachyury
  • CREB
  • deltaCREB
  • Evi-1
  • FOXC1
  • GATA-1
  • GATA-2
  • GATA-3
  • YY1

Genomic Locations for SERINC1 Gene

Latest Assembly
chr6:122,443,351-122,471,807
(GRCh38/hg38)
Size:
28,457 bases
Orientation:
Minus strand

Previous Assembly
chr6:122,764,496-122,792,952
(GRCh37/hg19 by Entrez Gene)
Size:
28,457 bases
Orientation:
Minus strand

chr6:122,764,499-122,792,967
(GRCh37/hg19 by Ensembl)
Size:
28,469 bases
Orientation:
Minus strand

Genomic View for SERINC1 Gene

Genes around SERINC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERINC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERINC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERINC1 Gene

Proteins for SERINC1 Gene

  • Protein details for SERINC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRX5-SERC1_HUMAN
    Recommended name:
    Serine incorporator 1
    Protein Accession:
    Q9NRX5
    Secondary Accessions:
    • B3KY69
    • E1P565
    • O75655
    • Q7Z2F5
    • Q8TAG1
    • Q9NTH8
    • Q9ULG7

    Protein attributes for SERINC1 Gene

    Size:
    453 amino acids
    Molecular mass:
    50495 Da
    Quaternary structure:
    • Interacts with SPTLC1.
    SequenceCaution:
    • Sequence=BAA86567.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SERINC1 Gene

Post-translational modifications for SERINC1 Gene

  • Glycosylation at Asn298
  • Ubiquitination at Lys343
  • Modification sites at PhosphoSitePlus

Other Protein References for SERINC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SERINC1 Gene

Domains & Families for SERINC1 Gene

Gene Families for SERINC1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for SERINC1 Gene

InterPro:
Blocks:
  • TMS membrane protein/tumour differentially expressed protein

Suggested Antigen Peptide Sequences for SERINC1 Gene

GenScript: Design optimal peptide antigens:
  • Tumor differentially expressed protein 2 (SERC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NRX5

UniProtKB/Swiss-Prot:

SERC1_HUMAN :
  • Belongs to the TDE1 family.
Family:
  • Belongs to the TDE1 family.
genes like me logo Genes that share domains with SERINC1: view

Function for SERINC1 Gene

Molecular function for SERINC1 Gene

UniProtKB/Swiss-Prot Function:
Enhances the incorporation of serine into phosphatidylserine and sphingolipids.

Phenotypes From GWAS Catalog for SERINC1 Gene

Gene Ontology (GO) - Molecular Function for SERINC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20195357
GO:0019899 enzyme binding IEA --
GO:0030674 protein binding, bridging IEA,ISS --
genes like me logo Genes that share ontologies with SERINC1: view
genes like me logo Genes that share phenotypes with SERINC1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for SERINC1

miRNA for SERINC1 Gene

miRTarBase miRNAs that target SERINC1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERINC1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SERINC1 Gene

Localization for SERINC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERINC1 Gene

Endoplasmic reticulum membrane. Multi-pass 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 SERINC1 gene
Compartment Confidence
plasma membrane 4
cytosol 3
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SERINC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane ISS --
GO:0005886 plasma membrane IEA,ISS --
GO:0016020 membrane IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SERINC1: view

Pathways & Interactions for SERINC1 Gene

genes like me logo Genes that share pathways with SERINC1: view

Pathways by source for SERINC1 Gene

Gene Ontology (GO) - Biological Process for SERINC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006658 phosphatidylserine metabolic process ISS --
GO:0006665 sphingolipid metabolic process ISS --
GO:0008654 phospholipid biosynthetic process IEA --
GO:0044091 membrane biogenesis IEA,ISS --
genes like me logo Genes that share ontologies with SERINC1: view

No data available for SIGNOR curated interactions for SERINC1 Gene

Drugs & Compounds for SERINC1 Gene

(1) Drugs for SERINC1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Serine Investigational Nutra Weak endogenous glycine receptor agonist 1286

(124) Additional Compounds for SERINC1 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 SERINC1: view

Transcripts for SERINC1 Gene

mRNA/cDNA for SERINC1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
1 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 SERINC1

Alternative Splicing Database (ASD) splice patterns (SP) for SERINC1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c · 10d ^
SP1: - - - -
SP2: - - - - -
SP3: - -
SP4: - -
SP5: - - - -
SP6: - - - - -
SP7: -
SP8: - - - - - - - - - - - - - - - - -
SP9: -
SP10: - - - - - - - - - - - - - - - - - - -
SP11:
SP12:
SP13: -

ExUns: 11a · 11b · 11c · 11d · 11e · 11f
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for SERINC1 Gene

GeneLoc Exon Structure for
SERINC1

Expression for SERINC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERINC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SERINC1 Gene

This gene is overexpressed in Adrenal (51.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SERINC1 Gene



Protein tissue co-expression partners for SERINC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERINC1

SOURCE GeneReport for Unigene cluster for SERINC1 Gene:

Hs.146668

Evidence on tissue expression from TISSUES for SERINC1 Gene

  • Nervous system(5)
  • Kidney(4.6)
  • Liver(4.5)
  • Adrenal gland(4.4)
  • Skin(3.8)
  • Pancreas(3.7)
  • Blood(3.4)
  • Lung(3.3)
  • Spleen(2.5)
  • Heart(2.5)
  • Muscle(2.4)
  • Intestine(2.3)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with SERINC1: view

Primer products for research

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 SERINC1 Gene

Orthologs for SERINC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SERINC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SERINC1 29 30
  • 99.71 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SERINC1 29 30
  • 93.3 (n)
OneToMany
-- 30
  • 91 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia SERINC1 29 30
  • 93.01 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Serinc1 29 16 30
  • 89.92 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Serinc1 29
  • 89.92 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 89 (a)
OneToMany
-- 30
  • 86 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia SERINC1 30
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SERINC1 29 30
  • 79.65 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SERINC1 30
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia serinc1 29
  • 77.9 (n)
Str.2375 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.9926 29
Zebrafish
(Danio rerio)
Actinopterygii serinc1 29 30
  • 72.52 (n)
OneToOne
wufd02g01 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4299 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002569 29
  • 53.09 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta TMS1 29 30
  • 50.75 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea CELE_R11H6.2 29
  • 52.35 (n)
R11H6.2 30
  • 43 (a)
ManyToMany
Y57E12AL.1 30
  • 43 (a)
ManyToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F11935g 29
  • 46.72 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TMS1 29 30
  • 45.97 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR100W 29
  • 45.24 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G06170 29
  • 44.36 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0454100 29
  • 44.12 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 58 (a)
ManyToMany
-- 30
  • 53 (a)
ManyToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAPB1A10.07c 29
  • 46.43 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU07986 29
  • 45.49 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4846 29
Species where no ortholog for SERINC1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SERINC1 Gene

ENSEMBL:
Gene Tree for SERINC1 (if available)
TreeFam:
Gene Tree for SERINC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERINC1: view image
Alliance of Genome Resources:
Additional Orthologs for SERINC1

Paralogs for SERINC1 Gene

Paralogs for SERINC1 Gene

(4) SIMAP similar genes for SERINC1 Gene using alignment to 1 proteins:

  • SERC1_HUMAN
genes like me logo Genes that share paralogs with SERINC1: view

Variants for SERINC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERINC1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs13210446 -- p.Phe216Val
rs13210569 -- p.Leu199Val
rs17260829 -- p.Ser225Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SERINC1 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 SERINC1 Gene

Variant ID Type Subtype PubMed ID
esv2759467 CNV loss 17122850
nsv1018215 CNV loss 25217958
nsv1161448 CNV duplication 26073780

Variation tolerance for SERINC1 Gene

Residual Variation Intolerance Score: 23.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.21; 39.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERINC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERINC1
Leiden Open Variation Database (LOVD)
SERINC1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERINC1 Gene

Disorders for SERINC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SERINC1 Gene - From: COP

Disorder Aliases PubMed IDs
rapp-hodgkin syndrome
  • rhs
griscelli syndrome, type 1
  • gs1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SERINC1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SERINC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SERINC1 Gene

Publications for SERINC1 Gene

  1. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 40
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  3. 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
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4

Products for SERINC1 Gene

Sources for SERINC1 Gene