SDF2L1 stromal cell derived factor 2 like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SDF2L1provided by HGNC
Official Full Name: stromal cell derived factor 2 like 1provided by HGNC
Primary source: HGNC:HGNC:10676
See related: Ensembl:ENSG00000128228 MIM:607551; AllianceGenome:HGNC:10676
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
Summary: Enables misfolded protein binding activity. Involved in chaperone cofactor-dependent protein refolding. Located in endoplasmic reticulum. Part of chaperone complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in colon (RPKM 15.5), stomach (RPKM 14.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (21642302..21644299)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (22055802..22057799)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (21996591..21998588)

Chromosome 22 - NC_000022.11 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SDF2L1 Inhibits Cell Proliferation, Migration, and Invasion in Nasopharyngeal Carcinoma.
Title: SDF2L1 Inhibits Cell Proliferation, Migration, and Invasion in Nasopharyngeal Carcinoma.
Expression profiles of PRKG1, SDF2L1 and PPP1R12A are predictive and prognostic factors for therapy response and survival in high-grade serous ovarian cancer.
Title: Expression profiles of PRKG1, SDF2L1 and PPP1R12A are predictive and prognostic factors for therapy response and survival in high-grade serous ovarian cancer.
The ERdj3-SDF2L1 complex suppressed ER protein aggregation, and this suppression did not require substrate transfer to BiP.
Title: SDF2-like protein 1 (SDF2L1) regulates the endoplasmic reticulum localization and chaperone activity of ERdj3 protein.
In diabetic patients, insufficient induction of Sdf2l1 correlates with progression of insulin resistance and steatohepatitis. Therefore, failure to build an ER stress response in the liver may be a causal factor in obesity-related diabetes and nonalcoholic steatohepatitis, for which Sdf2l1 could serve as a therapeutic target and sensitive biomarker.
Title: Hepatic Sdf2l1 controls feeding-induced ER stress and regulates metabolism.
SDF2L1 associates with ERdj3 and acts as a component in the BiP chaperone cycle to prevent the aggregation of misfolded proteins.
Title: Endoplasmic reticulum proteins SDF2 and SDF2L1 act as components of the BiP chaperone cycle to prevent protein aggregation.
SDF2L1 increases the time that misfolded proteins have to achieve a correctly folded conformation and thus that SDF2L1 can act as a buffer for substrate availability for ERAD in pancreatic beta-cells.
Title: SDF2L1 interacts with the ER-associated degradation machinery and retards the degradation of mutant proinsulin in pancreatic β-cells.

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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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 is identified to have a physical interaction with stromal cell-derived factor 2-like 1 (SDF2L1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with SDF2L1	PubMed
	env	HIV-1 gp160 is identified to have a physical interaction with stromal cell-derived factor 2-like 1 (SDF2L1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH41995 (e-PCR)
- UniSTS:3331

RH48055 (e-PCR)
- UniSTS:31091

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IEA Inferred from Electronic Annotation more info
enables misfolded protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ERAD pathway	IEA Inferred from Electronic Annotation more info
involved_in cellular response to misfolded protein	IEA Inferred from Electronic Annotation more info
involved_in chaperone cofactor-dependent protein refolding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of apoptotic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
part_of endoplasmic reticulum chaperone complex	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
part_of protein folding chaperone complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: stromal cell-derived factor 2-like protein 1

Names: PWP1-interacting protein 8; SDF2-like 1; SDF2-like protein 1; dihydropyrimidinase-like 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.

mRNA and Protein(s)

NM_022044.3 → NP_071327.2 stromal cell-derived factor 2-like protein 1 precursor

See identical proteins and their annotated locations for NP_071327.2

Status: VALIDATED

Source sequence(s)

AY359118

Consensus CDS

CCDS13792.1

UniProtKB/Swiss-Prot

A2RUD3, Q9BRI5, Q9HCN8

Related

ENSP00000248958.4, ENST00000248958.5

Conserved Domains (1) summary

cl25703
Location:53 → 200

PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase