SLC3A2 solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: SLC3A2provided by HGNC
Official Full Name: solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2provided by HGNC
Primary source: HGNC:11026
See related: Ensembl:ENSG00000168003; HPRD:01148; MIM:158070; Vega:OTTHUMG00000074091
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: 4F2; CD98; MDU1; 4F2HC; 4T2HC; NACAE; CD98HC
Summary: This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010]

Help top of page

Genomic context

Location :: 11q13

Sequence :: Chromosome: 11; NC_000011.9 (62623484..62656355)

See SLC3A2 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
study revealed that LAT1 and CD98 expression are positively correlated with breast cancer proliferation and negatively correlated with ER and PgR status; show that LAT1 and CD98 expression are prognostic factors in triple negative breast cancer
Title: Correlation of L-type amino acid transporter 1 and CD98 expression with triple negative breast cancer prognosis.
Results suggest that 4F2hc may play a significant role in tumor progression, hypoxic conditions and poor outcome in patients with pulmonary NE tumors.
Title: Expression of 4F2hc (CD98) in pulmonary neuroendocrine tumors.
Compared with the adult cerebral cortex, mRNAs encoding OATP1A2, OATP1C1, OATP3A1 variant 2, OATP4A1, LAT2 and CD98 were reduced in fetal cortex at different gestational ages, whilst mRNAs encoding MCT8, MCT10, OATP3A1 variant 1 and LAT1 were similar.
Title: The expression of thyroid hormone transporters in the human fetal cerebral cortex during early development and in N-Tera-2 neurodifferentiation.
The integrin-binding domain of the CD98 heavy chain transgene is required for antigen-driven T cell clonal expansion in the pathogenesis of an autoimmune disease such as experimental type 1 diabetes. mellitus.
Title: Loss of T cell CD98 H chain specifically ablates T cell clonal expansion and protects from autoimmunity.
Taken together, these observations indicate that 4F2hc is likely to be involved in GLUT1 stabilization and to contribute to the regulation of not only amino acid but also glucose metabolism.
Title: 4F2hc stabilizes GLUT1 protein and increases glucose transport activity.
Folding seems to be directed by the initial formation of hydrophobic clusters within the first strands of the beta-barrel of domain A followed by additional hydrophobic interactions in domain C.
Title: Structural characterization and unfolding mechanism of human 4F2hc ectodomain.
CD98hc is involved in integrin trafficking and by consequence, in keratinocyte adhesion and differentiation.
Title: CD98hc (SLC3A2) is a key regulator of keratinocyte adhesion.
CD98 expression was associated with the grade of malignancy and cell cycle control, and was useful for predicting poor outcome in thymic epithelial tumors
Title: CD98 expression is associated with the grade of malignancy in thymic epithelial tumors.
High expression of 4F2HC is associated with high-grade gliomas.
Title: Correlation of L-methyl-11C-methionine (MET) uptake with L-type amino acid transporter 1 in human gliomas.

Submit: New GeneRIF Correction See all (37)

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Help top of page

HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	The functional interaction between CD98 and CD147 is involved in the regulation of HIV-1 gp160-mediated cell fusion	PubMed
	env	Antibodies raised against the human fusion regulatory protein 1 (FRP-1; CD98) molecule suppress cell fusion mediated by HIV-1 gp160	PubMed

Go to the HIV-1, Human Protein Interaction Database

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
NC_000011.8	NP_001941.2	E2F4	BIND	PubMed	E2F4 interacts with SLC3A2 promoter.
P08195	P00533	EGFR	HPRD	PubMed
P08195	Q8TBR7	FAM57A	HPRD	PubMed
P08195	P05362	ICAM1	HPRD	PubMed
P08195	P05556	ITGB1	HPRD	PubMed
P08195	Q9NS82	SLC7A10	HPRD	PubMed
P08195	Q9UPY5	SLC7A11	HPRD	PubMed
P08195	Q01650	SLC7A5	HPRD	PubMed
P08195	Q9UM01	SLC7A7	HPRD	PubMed
P08195	Q9UHI5	SLC7A8	HPRD	PubMed
BioGRID:112411	BioGRID:120578	BRF2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112411	BioGRID:122941	FAM57A	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:112411	BioGRID:131875	GSTK1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112411	BioGRID:109894	ITGB1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112411	BioGRID:113801	SLC7A5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112411	BioGRID:114518	SLC7A7	BioGRID	PubMed	Reconstituted Complex
BioGRID:112411	BioGRID:116996	SLC7A8	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112411	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112411	BioGRID:203319	Slc7a7	BioGRID	PubMed	Reconstituted Complex
BioGRID:112411	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
calcium:sodium antiporter activity	TAS Traceable Author Statement more info	PubMed
catalytic activity	IEA Inferred from Electronic Annotation more info
cation binding	IEA Inferred from Electronic Annotation more info
neutral amino acid transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
amino acid transport	TAS Traceable Author Statement more info
blood coagulation	TAS Traceable Author Statement more info
calcium ion transport	NAS Non-traceable Author Statement more info	PubMed
carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
cell growth	NAS Non-traceable Author Statement more info	PubMed
ion transport	TAS Traceable Author Statement more info
leucine import	ISS Inferred from Sequence or Structural Similarity more info
leukocyte migration	TAS Traceable Author Statement more info
transmembrane transport	TAS Traceable Author Statement more info
tryptophan transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
apical plasma membrane	IEA Inferred from Electronic Annotation more info
cell surface	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	NAS Non-traceable Author Statement more info	PubMed
melanosome	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: 4F2 cell-surface antigen heavy chain

Names: 4F2 cell-surface antigen heavy chain; CD98 heavy chain; monoclonal antibody 44D7; lymphocyte activation antigen 4F2 large subunit; antigen defined by monoclonal antibody 4F2, heavy chain; antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43

Help top of page

NCBI Reference Sequences (RefSeq)

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_001012662.2 → NP_001012680.1 4F2 cell-surface antigen heavy chain isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (b).

Source sequence(s)

AA594112, AK025584, BC001061, DC395235

Consensus CDS

CCDS31588.1

UniProtKB/Swiss-Prot

P08195

Related

ENSP00000367123, OTTHUMP00000236708, ENST00000377891, OTTHUMT00000396040

Conserved Domains (2) summary

COG0366
Location:238 – 577
Blast Score: 217

AmyA; Glycosidases [Carbohydrate transport and metabolism]

cd11345
Location:208 – 537
Blast Score: 1130

AmyAc_SLC3A2; Alpha amylase catalytic domain found in solute carrier family 3 member 2 proteins
NM_001012664.2 → NP_001012682.1 4F2 cell-surface antigen heavy chain isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks two alternate in-frame exons, compared to variant 2, resulting in a shorter protein (isoform e).

Source sequence(s)

AA594112, BC003000, DC395235

Consensus CDS

CCDS31589.1

UniProtKB/Swiss-Prot

P08195

Related

ENSP00000367121, OTTHUMP00000236709, ENST00000377889, OTTHUMT00000396041

Conserved Domains (2) summary

COG0366
Location:175 – 514
Blast Score: 211

AmyA; Glycosidases [Carbohydrate transport and metabolism]

cd11345
Location:145 – 474
Blast Score: 1127

AmyAc_SLC3A2; Alpha amylase catalytic domain found in solute carrier family 3 member 2 proteins
NM_001013251.2 → NP_001013269.1 4F2 cell-surface antigen heavy chain isoform f

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and lacks several in-frame exons of the 5' coding region, compared to variant 2. These differences cause translation initiation at a downstream ATG and an isoform (f) with a shorter N-terminus compared to isoform b.

Source sequence(s)

AA594112, AB018010, BX443653

Consensus CDS

CCDS31590.1

UniProtKB/Swiss-Prot

P08195

Related

ENSP00000340815, OTTHUMP00000236712, ENST00000338663, OTTHUMT00000396044

Conserved Domains (2) summary

COG0366
Location:136 – 475
Blast Score: 205

AmyA; Glycosidases [Carbohydrate transport and metabolism]

cd11345
Location:106 – 435
Blast Score: 1127

AmyAc_SLC3A2; Alpha amylase catalytic domain found in solute carrier family 3 member 2 proteins
NM_002394.5 → NP_002385.3 4F2 cell-surface antigen heavy chain isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate in-frame exon and lacks an alternate exon in the 5' coding region, compared to variant 2, resulting in a shorter protein (isoform c).

Source sequence(s)

AA594112, BC001061, DC395235

Consensus CDS

CCDS8039.2

UniProtKB/Swiss-Prot

P08195

Related

ENSP00000367122, OTTHUMP00000082735, ENST00000377890, OTTHUMT00000157306

Conserved Domains (2) summary

COG0366
Location:237 – 576
Blast Score: 221

AmyA; Glycosidases [Carbohydrate transport and metabolism]

cl07893
Location:239 – 474
Blast Score: 198

Alpha-amylase; Alpha amylase, catalytic domain

RNA

NR_037193.1 RNA Sequence

Description

Transcript Variant: This variant (7) has multiple differences compared to variant 2. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 2.

Source sequence(s)

AA594112, AF055031, AK308797, BC001061

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

62623484..62656355

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

58952521..58985401

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001012661.1: Suppressed sequence

Description

NM_001012661.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_001012663.1: Suppressed sequence

Description

NM_001012663.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP001160.4 (133345..166180)	None
genomic	CH471076.1	EAW74118.1
		EAW74119.1
		EAW74120.1
		EAW74121.1
		EAW74122.1
		EAW74123.1
genomic	M21904.1	AAA35489.1
mRNA	AA594112.1	None
mRNA	AB018010.1	BAA84649.1
mRNA	AF055031.1	None
mRNA	AK025584.1	None
mRNA	AK090758.1	None
mRNA	AK094620.1	None
mRNA	AK225304.1	None
mRNA	AK304497.1	BAG65305.1
mRNA	AK304685.1	BAG65456.1
mRNA	AK308797.1	None
mRNA	AK311592.1	None
mRNA	AU143131.1	None
mRNA	BC001061.2	AAH01061.2
mRNA	BC003000.1	AAH03000.2
mRNA	BE018712.1	None
mRNA	BQ128156.1	None
mRNA	BU556953.1	None
mRNA	BX362778.2	None
mRNA	BX443653.2	None
mRNA	CA453972.1	None
mRNA	CB138799.1	None
mRNA	CB151304.1	None
mRNA	CN302816.1	None
mRNA	DC395235.1	None
mRNA	J02769.1	AAA51540.1
mRNA	J02939.1	AAA52497.1
mRNA	J03569.1	AAA35536.1
other-genetic	EU832612.1	ACE87703.1
other-genetic	EU832683.1	ACE87015.1