SLC6A8 solute carrier family 6 member 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC6A8provided by HGNC
Official Full Name: solute carrier family 6 member 8provided by HGNC
Primary source: HGNC:HGNC:11055
See related: Ensembl:ENSG00000130821 MIM:300036; AllianceGenome:HGNC:11055
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: CRT; CT1; CRT1; CRTR; CTR5; CCDS1; CRT-1
Summary: The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Expression: Broad expression in small intestine (RPKM 30.0), heart (RPKM 29.5) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq28

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (153687926..153696593)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (151961591..151970260)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (152953381..152962048)

Chromosome X - NC_000023.11 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?

Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).
Title: Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).
Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
Title: Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
Title: X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome.
Title: Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome.
SLC6A8-mediated intracellular creatine accumulation enhances hypoxic breast cancer cell survival via ameliorating oxidative stress.
Title: SLC6A8-mediated intracellular creatine accumulation enhances hypoxic breast cancer cell survival via ameliorating oxidative stress.
SLC6A8 Knockdown Suppresses the Invasion and Migration of Human Hepatocellular Carcinoma Huh-7 and Hep3B Cells.
Title: SLC6A8 Knockdown Suppresses the Invasion and Migration of Human Hepatocellular Carcinoma Huh-7 and Hep3B Cells.
Oxidative phosphorylation in creatine transporter deficiency.
Title: Oxidative phosphorylation in creatine transporter deficiency.
Creatine Transporter, Reduced in Colon Tissues From Patients With Inflammatory Bowel Diseases, Regulates Energy Balance in Intestinal Epithelial Cells, Epithelial Integrity, and Barrier Function.
Title: Creatine Transporter, Reduced in Colon Tissues From Patients With Inflammatory Bowel Diseases, Regulates Energy Balance in Intestinal Epithelial Cells, Epithelial Integrity, and Barrier Function.
Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
Title: Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
Studies of structural determinants of substrate binding in the Creatine Transporter (CreaT, SLC6A8) using molecular models.
Title: Studies of structural determinants of substrate binding in the Creatine Transporter (CreaT, SLC6A8) using molecular models.

Submit: New GeneRIF Correction See all GeneRIFs (56)

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

Associated conditions

Description	Tests
Creatine transporter deficiency MedGen: C1845862 OMIM: 300352 GeneReviews: Creatine Deficiency Disorders	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-11-10) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-11-10) ClinGen Genome Curation PagePubMed

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

RH71204 (e-PCR)
- UniSTS:88083

GDB:511269 (e-PCR)
- UniSTS:157499

RH18202 (e-PCR)
- UniSTS:15934

D16S3203 (e-PCR)
- UniSTS:33197

SLC6A8_1339 (e-PCR)
- UniSTS:277750

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables creatine transmembrane transporter activity	NAS Non-traceable Author Statement more info	PubMed
enables creatine:sodium symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables creatine:sodium symporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables creatine:sodium symporter activity	TAS Traceable Author Statement more info
enables gamma-aminobutyric acid:sodium:chloride symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in amino acid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in creatine metabolic process	TAS Traceable Author Statement more info
involved_in creatine transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in creatine transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in gamma-aminobutyric acid transport	IEA Inferred from Electronic Annotation more info
involved_in muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in neurotransmitter transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of nitrogen compound transport	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sodium- and chloride-dependent creatine transporter 1

Names: creatine transporter 1; solute carrier family 6 (neurotransmitter transporter), member 8; solute carrier family 6 (neurotransmitter transporter, creatine), member 8

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.

Genomic

NG_012016.2 RefSeqGene

Range

4630..13292

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001142805.2 → NP_001136277.1 sodium- and chloride-dependent creatine transporter 1 isoform 2

See identical proteins and their annotated locations for NP_001136277.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) lacks a 10-aa segment but has the same N- and C-termini, compared to isoform 1.

Source sequence(s)

AB209704, BC081558, BE207407, CX788315, L31409, U52111

UniProtKB/TrEMBL

X5D2U0

Conserved Domains (1) summary

cl00456
Location:52 → 611

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
NM_001142806.1 → NP_001136278.1 sodium- and chloride-dependent creatine transporter 1 isoform 3

See identical proteins and their annotated locations for NP_001136278.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AK295495, BC012355, BE207407, CA424985, CX788315, U52111

Consensus CDS

CCDS48190.1

UniProtKB/TrEMBL

X5D2U0

Related

ENSP00000403041.2, ENST00000430077.6

Conserved Domains (1) summary

cl00456
Location:1 → 506

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
NM_005629.4 → NP_005620.1 sodium- and chloride-dependent creatine transporter 1 isoform 1

See identical proteins and their annotated locations for NP_005620.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

BC081558, BE207407, CX788315, L31409, U52111

Consensus CDS

CCDS14726.1

UniProtKB/Swiss-Prot

B2KY47, B4DIA3, E9PFC0, P48029, Q13032, Q66I36

UniProtKB/TrEMBL

X5D2U0, X5D9C4

Related

ENSP00000253122.5, ENST00000253122.10

Conserved Domains (1) summary

cd11509
Location:52 → 621

SLC6sbd_CT1; Na(+)- and Cl(-)-dependent creatine transporter 1; solute-binding domain