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Protein

Solute carrier family 17 member 9

Gene

SLC17A9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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

  1. transporter activity Source: InterPro

GO - Biological processi

  1. exocytosis Source: UniProtKB-KW
  2. transmembrane transport Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Exocytosis, 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
ProteomesiUP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:16192. SLC17A9.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei64 – 8421HelicalSequence AnalysisAdd
BLAST
Transmembranei92 – 11221HelicalSequence AnalysisAdd
BLAST
Transmembranei118 – 13821HelicalSequence AnalysisAdd
BLAST
Transmembranei158 – 17821HelicalSequence AnalysisAdd
BLAST
Transmembranei181 – 20121HelicalSequence AnalysisAdd
BLAST
Transmembranei239 – 25921HelicalSequence AnalysisAdd
BLAST
Transmembranei276 – 29621HelicalSequence AnalysisAdd
BLAST
Transmembranei316 – 33621HelicalSequence AnalysisAdd
BLAST
Transmembranei369 – 38921HelicalSequence AnalysisAdd
BLAST
Transmembranei402 – 42221HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91R → C in POROK8. 1 Publication
VAR_071983
Natural varianti311 – 3111R → Q in POROK8. 1 Publication
VAR_071984

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi616063. phenotype.
Orphaneti79152. Disseminated superficial actinic porokeratosis.
PharmGKBiPA164725806.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 436436Solute carrier family 17 member 9PRO_0000084849Add
BLAST

Proteomic databases

MaxQBiQ9BYT1.
PaxDbiQ9BYT1.
PRIDEiQ9BYT1.

PTM databases

PhosphoSiteiQ9BYT1.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9BYT1.
ExpressionAtlasiQ9BYT1. baseline and differential.
GenevestigatoriQ9BYT1.

Organism-specific databases

HPAiHPA047470.
HPA056499.

Interactioni

Protein-protein interaction databases

BioGridi121984. 1 interaction.
IntActiQ9BYT1. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ9BYT1.
SMRiQ9BYT1. Positions 372-399.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0477.
GeneTreeiENSGT00760000119079.
InParanoidiQ9BYT1.
KOiK12303.
OMAiPVCTVAM.
OrthoDBiEOG7JDQXB.
PhylomeDBiQ9BYT1.
TreeFamiTF313341.

Family and domain databases

InterProiIPR011701. MFS.
IPR020846. MFS_dom.
IPR005829. Sugar_transporter_CS.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 1 hit.
PROSITEiPS50850. MFS. 1 hit.
PS00217. SUGAR_TRANSPORT_2. 1 hit.
[Graphical view]

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 AAH25312.1 differs from that shown. Reason: Erroneous termination at position 389. Translated as Leu.Curated
The sequence BAB84933.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti395 – 3951E → K (PubMed:18375752).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91R → C in POROK8. 1 Publication
VAR_071983
Natural varianti228 – 2281N → S.3 Publications
Corresponds to variant rs2427463 [ dbSNP | Ensembl ].
VAR_055326
Natural varianti311 – 3111R → Q in POROK8. 1 Publication
VAR_071984
Natural varianti397 – 3971T → M.
Corresponds to variant rs7271712 [ dbSNP | Ensembl ].
VAR_056128

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1919MQPPP…DTQWS → MTLTSRRQDSQEA in isoform 2. 2 PublicationsVSP_010344Add
BLAST
Alternative sequencei210 – 2167DLILALG → GNAGRAG in isoform 3. 1 PublicationVSP_010345
Alternative sequencei217 – 436220Missing in isoform 3. 1 PublicationVSP_010346Add
BLAST

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. Translation: CAC28600.1.
AL121673 Genomic DNA. Translation: CAH72268.1.
BC025312 mRNA. Translation: AAH25312.1. Sequence problems.
BC027447 mRNA. Translation: AAH27447.1.
BC038593 mRNA. No translation available.
CCDSiCCDS42901.1. [Q9BYT1-1]
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.4. human. [Q9BYT1-2]
uc002yea.4. human. [Q9BYT1-1]

Polymorphism databases

DMDMi47605540.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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. Translation: CAC28600.1.
AL121673 Genomic DNA. Translation: CAH72268.1.
BC025312 mRNA. Translation: AAH25312.1. Sequence problems.
BC027447 mRNA. Translation: AAH27447.1.
BC038593 mRNA. No translation available.
CCDSiCCDS42901.1. [Q9BYT1-1]
RefSeqiNP_001289572.1. NM_001302643.1.
NP_071365.3. NM_022082.3.
UniGeneiHs.512686.

3D structure databases

ProteinModelPortaliQ9BYT1.
SMRiQ9BYT1. Positions 372-399.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121984. 1 interaction.
IntActiQ9BYT1. 1 interaction.

Protein family/group databases

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

PTM databases

PhosphoSiteiQ9BYT1.

Polymorphism databases

DMDMi47605540.

Proteomic databases

MaxQBiQ9BYT1.
PaxDbiQ9BYT1.
PRIDEiQ9BYT1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370349; ENSP00000359374; ENSG00000101194. [Q9BYT1-2]
ENST00000370351; ENSP00000359376; ENSG00000101194. [Q9BYT1-1]
GeneIDi63910.
KEGGihsa:63910.
UCSCiuc002ydz.4. human. [Q9BYT1-2]
uc002yea.4. human. [Q9BYT1-1]

Organism-specific databases

CTDi63910.
GeneCardsiGC20P061583.
HGNCiHGNC:16192. SLC17A9.
HPAiHPA047470.
HPA056499.
MIMi612107. gene.
616063. phenotype.
neXtProtiNX_Q9BYT1.
Orphaneti79152. Disseminated superficial actinic porokeratosis.
PharmGKBiPA164725806.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0477.
GeneTreeiENSGT00760000119079.
InParanoidiQ9BYT1.
KOiK12303.
OMAiPVCTVAM.
OrthoDBiEOG7JDQXB.
PhylomeDBiQ9BYT1.
TreeFamiTF313341.

Miscellaneous databases

GenomeRNAii63910.
NextBioi65626.
PROiQ9BYT1.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BYT1.
ExpressionAtlasiQ9BYT1. baseline and differential.
GenevestigatoriQ9BYT1.

Family and domain databases

InterProiIPR011701. MFS.
IPR020846. MFS_dom.
IPR005829. Sugar_transporter_CS.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 1 hit.
PROSITEiPS50850. MFS. 1 hit.
PS00217. SUGAR_TRANSPORT_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, TISSUE SPECIFICITY, VARIANT SER-228.
  2. "Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones."
    Jikuya H., Takano J., Kikuno R., Hirosawa M., Nagase T., Nomura N., Ohara O.
    DNA Res. 10:49-57(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Spleen.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT SER-228.
    Tissue: Neonatal skin.
  4. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT SER-228.
    Tissue: Kidney.
  6. "Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis."
    Cui H., Li L., Wang W., Shen J., Yue Z., Zheng X., Zuo X., Liang B., Gao M., Fan X., Yin X., Shen C., Yang C., Zhang C., Zhang X., Sheng Y., Gao J., Zhu Z.
    , Lin D., Zhang A., Wang Z., Liu S., Sun L., Yang S., Cui Y., Zhang X.
    J. Med. Genet. 51:699-704(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN POROK8, VARIANTS POROK8 CYS-9 AND GLN-311.

Entry informationi

Entry nameiS17A9_HUMAN
AccessioniPrimary (citable) accession number: Q9BYT1
Secondary accession number(s): B3KTF2
, Q5W198, Q8TB07, Q8TBP4, Q8TEL5, Q9BYT0, Q9BYT2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: May 24, 2004
Last modified: March 4, 2015
This is version 107 of the entry and version 2 of the sequence. [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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.