SERINC1 serine incorporator 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SERINC1provided by HGNC
Official Full Name: serine incorporator 1provided by HGNC
Primary source: HGNC:HGNC:13464
See related: Ensembl:ENSG00000111897 MIM:614548; AllianceGenome:HGNC:13464
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TDE2; TMS2; TDE1L; TMS-2
Summary: Predicted to enable acetyltransferase activator activity; enzyme binding activity; and protein-macromolecule adaptor activity. Predicted to be involved in membrane biogenesis; phosphatidylserine metabolic process; and sphingolipid metabolic process. Predicted to be located in endoplasmic reticulum membrane and plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in brain (RPKM 241.4), adrenal (RPKM 145.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q22.31

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (122443351..122471807, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (123631640..123660124, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (122764496..122792952, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20260 (e-PCR)
- UniSTS:5409

A005A16 (e-PCR)
- UniSTS:5410

IB477 (e-PCR)
- UniSTS:54829

WI-18000 (e-PCR)
- UniSTS:81483

D6S1418 (e-PCR)
- UniSTS:60023

D6S1230E (e-PCR)
- UniSTS:48510

SHGC-67307 (e-PCR)
- UniSTS:89991

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetyltransferase activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in membrane biogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidylserine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in phospholipid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in sphingolipid metabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: serine incorporator 1

Names: tumor differentially expressed protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.