Tissue expression of SLC6A8 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	SLC6A8
Gene description	Solute carrier family 6 (neurotransmitter transporter), member 8
Protein class	Disease related genes FDA approved drug targets Plasma proteins Predicted intracellular proteins Predicted membrane proteins Transporters
Predicted localization	Intracellular,Membrane
Number of transcripts	6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Mixed
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Mixed
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	SLC6A8 (HGNC Symbol)
Synonyms	CRTR, CT1
Description	Solute carrier family 6 (neurotransmitter transporter), member 8 (HGNC Symbol)
Entrez gene 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]
Chromosome	X
Cytoband	q28
Chromosome location (bp)	153688099 - 153696593
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000130821 (version 83.38)
Entrez gene	6535
UniProt	P48029 (UniProt - Evidence at protein level)
neXtProt	NX_P48029
Antibodypedia	SLC6A8 antibodies

PROTEIN BROWSER

SLC6A8-001	SLC6A8-002	SLC6A8-005	SLC6A8-006	SLC6A8-008	SLC6A8-009

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SLC6A8-001 ENSP00000394742 ENST00000457723	H7C0F5 [Direct mapping] Sodium- and chloride-dependent creatine transporter 1 Show all	SignalP predicted secreted proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		89 aa 9.4 kDa	No	0
SLC6A8-002 ENSP00000253122 ENST00000253122	P48029 [Direct mapping] Sodium- and chloride-dependent creatine transporter 1 X5D9C4 [Target identity:100%; Query identity:100%] Transporter Show all	Transporters Electrochemical Potential-driven transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Plasma proteins Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Ezkurdia et al 2014) Show all	GO:0003674 [molecular_function] GO:0005308 [creatine transmembrane transporter activity] GO:0005309 [creatine:sodium symporter activity] GO:0005328 [neurotransmitter:sodium symporter activity] GO:0005575 [cellular_component] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006595 [polyamine metabolic process] GO:0006600 [creatine metabolic process] GO:0006810 [transport] GO:0006814 [sodium ion transport] GO:0006836 [neurotransmitter transport] GO:0006936 [muscle contraction] GO:0008150 [biological_process] GO:0015881 [creatine transport] GO:0016021 [integral component of membrane] GO:0034641 [cellular nitrogen compound metabolic process] GO:0044281 [small molecule metabolic process] GO:1902598 [creatine transmembrane transport] Show all	635 aa 70.5 kDa	No	>9
SLC6A8-005 ENSP00000403041 ENST00000430077	P48029 [Direct mapping] Sodium- and chloride-dependent creatine transporter 1 Show all	Transporters Electrochemical Potential-driven transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Plasma proteins Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Ezkurdia et al 2014) Show all	GO:0003674 [molecular_function] GO:0005308 [creatine transmembrane transporter activity] GO:0005309 [creatine:sodium symporter activity] GO:0005328 [neurotransmitter:sodium symporter activity] GO:0005575 [cellular_component] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006595 [polyamine metabolic process] GO:0006600 [creatine metabolic process] GO:0006810 [transport] GO:0006814 [sodium ion transport] GO:0006836 [neurotransmitter transport] GO:0006936 [muscle contraction] GO:0008150 [biological_process] GO:0015881 [creatine transport] GO:0016021 [integral component of membrane] GO:0034641 [cellular nitrogen compound metabolic process] GO:0044281 [small molecule metabolic process] GO:1902598 [creatine transmembrane transport] Show all	520 aa 58.5 kDa	No	>9
SLC6A8-006 ENSP00000404046 ENST00000429147	H7C249 [Direct mapping] Sodium- and chloride-dependent creatine transporter 1 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005328 [neurotransmitter:sodium symporter activity] GO:0006836 [neurotransmitter transport] GO:0016021 [integral component of membrane] GO:0055085 [transmembrane transport] Show all	112 aa 12.1 kDa	No	1
SLC6A8-008 ENSP00000400463 ENST00000413787	H7C1I2 [Direct mapping] Sodium- and chloride-dependent creatine transporter 1 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005328 [neurotransmitter:sodium symporter activity] GO:0006836 [neurotransmitter transport] GO:0016021 [integral component of membrane] GO:0055085 [transmembrane transport] Show all	156 aa 17.5 kDa	No	2
SLC6A8-009 ENSP00000403682 ENST00000442457	H7C222 [Direct mapping] Transporter Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 5TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005328 [neurotransmitter:sodium symporter activity] GO:0006836 [neurotransmitter transport] GO:0016021 [integral component of membrane] GO:0055085 [transmembrane transport] Show all	174 aa 19 kDa	No	5