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Protein

Protein spinster homolog 3

Gene

SPNS3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Sphingolipid transporter.By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Lipid transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Protein spinster homolog 3
Gene namesi
Name:SPNS3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:28433. SPNS3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei50 – 7021HelicalSequence analysisAdd
BLAST
Transmembranei84 – 10421HelicalSequence analysisAdd
BLAST
Transmembranei112 – 13221HelicalSequence analysisAdd
BLAST
Transmembranei145 – 16521HelicalSequence analysisAdd
BLAST
Transmembranei173 – 19321HelicalSequence analysisAdd
BLAST
Transmembranei204 – 22421HelicalSequence analysisAdd
BLAST
Transmembranei260 – 28021HelicalSequence analysisAdd
BLAST
Transmembranei309 – 32921HelicalSequence analysisAdd
BLAST
Transmembranei343 – 36523HelicalSequence analysisAdd
BLAST
Transmembranei377 – 39721HelicalSequence analysisAdd
BLAST
Transmembranei411 – 43121HelicalSequence analysisAdd
BLAST
Transmembranei450 – 47021HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162404621.

Polymorphism and mutation databases

BioMutaiSPNS3.
DMDMi296452841.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 512512Protein spinster homolog 3PRO_0000305046Add
BLAST

Proteomic databases

MaxQBiQ6ZMD2.
PaxDbiQ6ZMD2.
PRIDEiQ6ZMD2.

PTM databases

PhosphoSiteiQ6ZMD2.

Expressioni

Gene expression databases

BgeeiQ6ZMD2.
CleanExiHS_SPNS3.
ExpressionAtlasiQ6ZMD2. baseline and differential.
GenevisibleiQ6ZMD2. HS.

Organism-specific databases

HPAiHPA023928.

Interactioni

Protein-protein interaction databases

BioGridi128385. 1 interaction.
STRINGi9606.ENSP00000347721.

Structurei

3D structure databases

ProteinModelPortaliQ6ZMD2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1330. Eukaryota.
COG0477. LUCA.
GeneTreeiENSGT00390000005976.
HOGENOMiHOG000276167.
HOVERGENiHBG055503.
InParanoidiQ6ZMD2.
OMAiWALRVMP.
OrthoDBiEOG783MVC.
PhylomeDBiQ6ZMD2.
TreeFamiTF314395.

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6ZMD2-1) [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
MAGGMSAECP EPGPGGLQGQ SPGPGRQCPP PITPTSWSLP PWRAYVAAAV
60 70 80 90 100
LCYINLLNYM NWFIIAGVLL DIQEVFQISD NHAGLLQTVF VSCLLLSAPV
110 120 130 140 150
FGYLGDRHSR KATMSFGILL WSGAGLSSSF ISPRYSWLFF LSRGIVGTGS
160 170 180 190 200
ASYSTIAPTV LGDLFVRDQR TRVLAVFYIF IPVGSGLGYV LGSAVTMLTG
210 220 230 240 250
NWRWALRVMP CLEAVALILL ILLVPDPPRG AAETQGEGAV GGFRSSWCED
260 270 280 290 300
VRYLGKNWSF VWSTLGVTAM AFVTGALGFW APKFLLEARV VHGLQPPCFQ
310 320 330 340 350
EPCSNPDSLI FGALTIMTGV IGVILGAEAA RRYKKVIPGA EPLICASSLL
360 370 380 390 400
ATAPCLYLAL VLAPTTLLAS YVFLGLGELL LSCNWAVVAD ILLSVVVPRC
410 420 430 440 450
RGTAEALQIT VGHILGDAGS PYLTGLISSV LRARRPDSYL QRFRSLQQSF
460 470 480 490 500
LCCAFVIALG GGCFLLTALY LERDETRAWQ PVTGTPDSND VDSNDLERQG
510
LLSGAGASTE EP
Length:512
Mass (Da):54,769
Last modified:May 18, 2010 - v2
Checksum:iCC34E7628A0B4022
GO
Isoform 2 (identifier: Q6ZMD2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-127: Missing.
     128-134: SSFISPR → MLVCFRL

Show »
Length:385
Mass (Da):41,339
Checksum:i0F499078019C78BB
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti417 – 4171D → G in BAD18797 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti293 – 2931G → R.1 Publication
Corresponds to variant rs34457931 [ dbSNP | Ensembl ].
VAR_035158
Natural varianti330 – 3301A → S.1 Publication
Corresponds to variant rs11655342 [ dbSNP | Ensembl ].
VAR_035159
Natural varianti507 – 5071A → T in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035968

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 127127Missing in isoform 2. 1 PublicationVSP_028197Add
BLAST
Alternative sequencei128 – 1347SSFISPR → MLVCFRL in isoform 2. 1 PublicationVSP_028198

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK172832 mRNA. Translation: BAD18797.1.
AC116910 Genomic DNA. No translation available.
AC127521 Genomic DNA. No translation available.
BC023646 mRNA. Translation: AAH23646.1.
CCDSiCCDS11045.1. [Q6ZMD2-1]
RefSeqiNP_001307378.1. NM_001320449.1.
NP_872344.3. NM_182538.4. [Q6ZMD2-1]
UniGeneiHs.657543.

Genome annotation databases

EnsembliENST00000355530; ENSP00000347721; ENSG00000182557. [Q6ZMD2-1]
GeneIDi201305.
KEGGihsa:201305.
UCSCiuc002fxt.4. human. [Q6ZMD2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK172832 mRNA. Translation: BAD18797.1.
AC116910 Genomic DNA. No translation available.
AC127521 Genomic DNA. No translation available.
BC023646 mRNA. Translation: AAH23646.1.
CCDSiCCDS11045.1. [Q6ZMD2-1]
RefSeqiNP_001307378.1. NM_001320449.1.
NP_872344.3. NM_182538.4. [Q6ZMD2-1]
UniGeneiHs.657543.

3D structure databases

ProteinModelPortaliQ6ZMD2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128385. 1 interaction.
STRINGi9606.ENSP00000347721.

PTM databases

PhosphoSiteiQ6ZMD2.

Polymorphism and mutation databases

BioMutaiSPNS3.
DMDMi296452841.

Proteomic databases

MaxQBiQ6ZMD2.
PaxDbiQ6ZMD2.
PRIDEiQ6ZMD2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355530; ENSP00000347721; ENSG00000182557. [Q6ZMD2-1]
GeneIDi201305.
KEGGihsa:201305.
UCSCiuc002fxt.4. human. [Q6ZMD2-1]

Organism-specific databases

CTDi201305.
GeneCardsiSPNS3.
H-InvDBHIX0027320.
HGNCiHGNC:28433. SPNS3.
HPAiHPA023928.
MIMi611701. gene.
neXtProtiNX_Q6ZMD2.
PharmGKBiPA162404621.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1330. Eukaryota.
COG0477. LUCA.
GeneTreeiENSGT00390000005976.
HOGENOMiHOG000276167.
HOVERGENiHBG055503.
InParanoidiQ6ZMD2.
OMAiWALRVMP.
OrthoDBiEOG783MVC.
PhylomeDBiQ6ZMD2.
TreeFamiTF314395.

Miscellaneous databases

GenomeRNAii201305.
NextBioi90139.
PROiQ6ZMD2.
SOURCEiSearch...

Gene expression databases

BgeeiQ6ZMD2.
CleanExiHS_SPNS3.
ExpressionAtlasiQ6ZMD2. baseline and differential.
GenevisibleiQ6ZMD2. HS.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  1. "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(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ARG-293.
  2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT SER-330.
    Tissue: Lymph.
  4. "Identification of six putative human transporters with structural similarity to the drug transporter SLC22 family."
    Jacobsson J.A., Haitina T., Lindblom J., Fredriksson R.
    Genomics 90:595-609(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.
  5. Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-507.

Entry informationi

Entry nameiSPNS3_HUMAN
AccessioniPrimary (citable) accession number: Q6ZMD2
Secondary accession number(s): Q8IZ31
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: May 18, 2010
Last modified: May 11, 2016
This is version 102 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 17
    Human chromosome 17: 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

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 one 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.