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Protein

Solute carrier family 17 member 9

Gene

SLC17A9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in vesicular storage and exocytosis of ATP. May accumulate ATP and other nucleotides in secretory vesicles such as adrenal chromaffin granules and synaptic vesicles.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processExocytosis, Transport

Protein family/group databases

TCDBi2.A.1.14.21 the major facilitator superfamily (mfs)

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 17 member 9
Gene namesi
Name:SLC17A9
Synonyms:C20orf59
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000101194.17
HGNCiHGNC:16192 SLC17A9
MIMi612107 gene
neXtProtiNX_Q9BYT1

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei64 – 84HelicalSequence analysisAdd BLAST21
Transmembranei92 – 112HelicalSequence analysisAdd BLAST21
Transmembranei118 – 138HelicalSequence analysisAdd BLAST21
Transmembranei158 – 178HelicalSequence analysisAdd BLAST21
Transmembranei181 – 201HelicalSequence analysisAdd BLAST21
Transmembranei239 – 259HelicalSequence analysisAdd BLAST21
Transmembranei276 – 296HelicalSequence analysisAdd BLAST21
Transmembranei316 – 336HelicalSequence analysisAdd BLAST21
Transmembranei369 – 389HelicalSequence analysisAdd BLAST21
Transmembranei402 – 422HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Porokeratosis 8, disseminated superficial actinic type (POROK8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life.
See also OMIM:616063
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0719839R → C in POROK8. 1 PublicationCorresponds to variant dbSNP:rs548728088EnsemblClinVar.1
Natural variantiVAR_071984311R → Q in POROK8. 1 PublicationCorresponds to variant dbSNP:rs606231251EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi63910
MalaCardsiSLC17A9
MIMi616063 phenotype
OpenTargetsiENSG00000101194
Orphaneti79152 Disseminated superficial actinic porokeratosis
PharmGKBiPA164725806

Chemistry databases

GuidetoPHARMACOLOGYi1010

Polymorphism and mutation databases

BioMutaiSLC17A9
DMDMi47605540

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000848491 – 436Solute carrier family 17 member 9Add BLAST436

Proteomic databases

MaxQBiQ9BYT1
PaxDbiQ9BYT1
PeptideAtlasiQ9BYT1
PRIDEiQ9BYT1
ProteomicsDBi79701
79702 [Q9BYT1-2]
79703 [Q9BYT1-3]

PTM databases

iPTMnetiQ9BYT1
PhosphoSitePlusiQ9BYT1

Expressioni

Tissue specificityi

Predominantly expressed in adrenal gland, brain and thyroid.1 Publication

Gene expression databases

BgeeiENSG00000101194
ExpressionAtlasiQ9BYT1 baseline and differential
GenevisibleiQ9BYT1 HS

Organism-specific databases

HPAiHPA047470
HPA056499

Interactioni

Protein-protein interaction databases

BioGridi121984, 1 interactor
IntActiQ9BYT1, 8 interactors
STRINGi9606.ENSP00000359376

Structurei

3D structure databases

ProteinModelPortaliQ9BYT1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IRU8 Eukaryota
ENOG411038V LUCA
GeneTreeiENSGT00760000119079
InParanoidiQ9BYT1
KOiK12303
OMAiYCARVAM
OrthoDBiEOG091G077E
PhylomeDBiQ9BYT1
TreeFamiTF313341

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
IPR005829 Sugar_transporter_CS
PfamiView protein in Pfam
PF07690 MFS_1, 1 hit
SUPFAMiSSF103473 SSF103473, 1 hit
PROSITEiView protein in PROSITE
PS50850 MFS, 1 hit
PS00217 SUGAR_TRANSPORT_2, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BYT1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQPPPDEARR DMAGDTQWSR PECQAWTGTL LLGTCLLYCA RSSMPICTVS
60 70 80 90 100
MSQDFGWNKK EAGIVLSSFF WGYCLTQVVG GHLGDRIGGE KVILLSASAW
110 120 130 140 150
GSITAVTPLL AHLSSAHLAF MTFSRILMGL LQGVYFPALT SLLSQKVRES
160 170 180 190 200
ERAFTYSIVG AGSQFGTLLT GAVGSLLLEW YGWQSIFYFS GGLTLLWVWY
210 220 230 240 250
VYRYLLSEKD LILALGVLAQ SRPVSRHNRV PWRRLFRKPA VWAAVVSQLS
260 270 280 290 300
AACSFFILLS WLPTFFEETF PDAKGWIFNV VPWLVAIPAS LFSGFLSDHL
310 320 330 340 350
INQGYRAITV RKLMQGMGLG LSSVFALCLG HTSSFCESVV FASASIGLQT
360 370 380 390 400
FNHSGISVNI QDLAPSCAGF LFGVANTAGA LAGVVGVCLG GYLMETTGSW
410 420 430
TCLFNLVAII SNLGLCTFLV FGQAQRVDLS STHEDL
Length:436
Mass (Da):47,482
Last modified:May 24, 2004 - v2
Checksum:iFE9E065E0A76A94A
GO
Isoform 2 (identifier: Q9BYT1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: MQPPPDEARRDMAGDTQWS → MTLTSRRQDSQEA

Show »
Length:430
Mass (Da):46,816
Checksum:iBBA4CF4BF06C2221
GO
Isoform 3 (identifier: Q9BYT1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     210-216: DLILALG → GNAGRAG
     217-436: Missing.

Note: No experimental confirmation available.
Show »
Length:216
Mass (Da):23,676
Checksum:i07AA6D8E45540E23
GO

Sequence cautioni

The sequence AAH25312 differs from that shown. Reason: Erroneous termination at position 389. Translated as Leu.Curated
The sequence BAB84933 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti395E → K (PubMed:18375752).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0719839R → C in POROK8. 1 PublicationCorresponds to variant dbSNP:rs548728088EnsemblClinVar.1
Natural variantiVAR_055326228N → S3 PublicationsCorresponds to variant dbSNP:rs2427463Ensembl.1
Natural variantiVAR_071984311R → Q in POROK8. 1 PublicationCorresponds to variant dbSNP:rs606231251EnsemblClinVar.1
Natural variantiVAR_056128397T → M. Corresponds to variant dbSNP:rs7271712Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0103441 – 19MQPPP…DTQWS → MTLTSRRQDSQEA in isoform 2. 2 PublicationsAdd BLAST19
Alternative sequenceiVSP_010345210 – 216DLILALG → GNAGRAG in isoform 3. 1 Publication7
Alternative sequenceiVSP_010346217 – 436Missing in isoform 3. 1 PublicationAdd BLAST220

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074107 mRNA Translation: BAB84933.1 Different initiation.
AK095473 mRNA Translation: BAG53064.1
AL121673 Genomic DNA No translation available.
BC025312 mRNA Translation: AAH25312.1 Sequence problems.
BC027447 mRNA Translation: AAH27447.1
BC038593 mRNA No translation available.
CCDSiCCDS42901.1 [Q9BYT1-1]
CCDS77600.1 [Q9BYT1-2]
RefSeqiNP_001289572.1, NM_001302643.1
NP_071365.3, NM_022082.3
UniGeneiHs.512686

Genome annotation databases

EnsembliENST00000370349; ENSP00000359374; ENSG00000101194 [Q9BYT1-2]
ENST00000370351; ENSP00000359376; ENSG00000101194 [Q9BYT1-1]
GeneIDi63910
KEGGihsa:63910
UCSCiuc002ydz.5 human [Q9BYT1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiS17A9_HUMAN
AccessioniPrimary (citable) accession number: Q9BYT1
Secondary accession number(s): B3KTF2
, Q5W198, Q8TB07, Q8TBP4, Q8TEL5, Q9BYT0, Q9BYT2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: May 24, 2004
Last modified: July 18, 2018
This is version 130 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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