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Protein

Protein spinster homolog 1

Gene

SPNS1

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

Functioni

Sphingolipid transporter (By similarity). May be involved in necrotic or autophagic cell death.By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Lipid transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169682-MONOMER.

Protein family/group databases

TCDBi2.A.1.49.2. the major facilitator superfamily (mfs).

Names & Taxonomyi

Protein namesi
Recommended name:
Protein spinster homolog 1
Alternative name(s):
HSpin1
Spinster-like protein 1
Gene namesi
Name:SPNS1
Synonyms:SPIN1
ORF Names:PP20300
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:30621. SPNS1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei50 – 70HelicalSequence analysisAdd BLAST21
Transmembranei98 – 118HelicalSequence analysisAdd BLAST21
Transmembranei127 – 147HelicalSequence analysisAdd BLAST21
Transmembranei160 – 180HelicalSequence analysisAdd BLAST21
Transmembranei187 – 207HelicalSequence analysisAdd BLAST21
Transmembranei218 – 238HelicalSequence analysisAdd BLAST21
Transmembranei278 – 298HelicalSequence analysisAdd BLAST21
Transmembranei323 – 343HelicalSequence analysisAdd BLAST21
Transmembranei357 – 377HelicalSequence analysisAdd BLAST21
Transmembranei381 – 401HelicalSequence analysisAdd BLAST21
Transmembranei421 – 441HelicalSequence analysisAdd BLAST21
Transmembranei465 – 485HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • lysosomal membrane Source: UniProtKB
  • mitochondrial inner membrane Source: UniProtKB-SubCell
  • vesicle Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi83985.
OpenTargetsiENSG00000169682.
PharmGKBiPA162404561.

Polymorphism and mutation databases

BioMutaiSPNS1.
DMDMi74733566.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00003050392 – 528Protein spinster homolog 1Add BLAST527

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei518PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9H2V7.
MaxQBiQ9H2V7.
PaxDbiQ9H2V7.
PeptideAtlasiQ9H2V7.
PRIDEiQ9H2V7.

PTM databases

iPTMnetiQ9H2V7.
PhosphoSitePlusiQ9H2V7.

Expressioni

Gene expression databases

BgeeiENSG00000169682.
CleanExiHS_SPIN1.
HS_SPNS1.
ExpressionAtlasiQ9H2V7. baseline and differential.
GenevisibleiQ9H2V7. HS.

Organism-specific databases

HPAiHPA041995.
HPA042988.

Interactioni

Subunit structurei

Interacts with BCL2 and BCL2L1.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
BCL2L1Q078173EBI-1386527,EBI-78035

Protein-protein interaction databases

BioGridi123836. 7 interactors.
IntActiQ9H2V7. 18 interactors.
MINTiMINT-2817616.
STRINGi9606.ENSP00000309945.

Structurei

3D structure databases

ProteinModelPortaliQ9H2V7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1330. Eukaryota.
COG0477. LUCA.
GeneTreeiENSGT00390000005976.
HOVERGENiHBG055503.
InParanoidiQ9H2V7.
PhylomeDBiQ9H2V7.
TreeFamiTF314395.

Family and domain databases

CDDicd06174. MFS. 1 hit.
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 (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H2V7-1) [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
MAGSDTAPFL SQADDPDDGP VPGTPGLPGS TGNPKSEEPE VPDQEGLQRI
60 70 80 90 100
TGLSPGRSAL IVAVLCYINL LNYMDRFTVA GVLPDIEQFF NIGDSSSGLI
110 120 130 140 150
QTVFISSYMV LAPVFGYLGD RYNRKYLMCG GIAFWSLVTL GSSFIPGEHF
160 170 180 190 200
WLLLLTRGLV GVGEASYSTI APTLIADLFV ADQRSRMLSI FYFAIPVGSG
210 220 230 240 250
LGYIAGSKVK DMAGDWHWAL RVTPGLGVVA VLLLFLVVRE PPRGAVERHS
260 270 280 290 300
DLPPLNPTSW WADLRALARN PSFVLSSLGF TAVAFVTGSL ALWAPAFLLR
310 320 330 340 350
SRVVLGETPP CLPGDSCSSS DSLIFGLITC LTGVLGVGLG VEISRRLRHS
360 370 380 390 400
NPRADPLVCA TGLLGSAPFL FLSLACARGS IVATYIFIFI GETLLSMNWA
410 420 430 440 450
IVADILLYVV IPTRRSTAEA FQIVLSHLLG DAGSPYLIGL ISDRLRRNWP
460 470 480 490 500
PSFLSEFRAL QFSLMLCAFV GALGGAAFLG TAIFIEADRR RAQLHVQGLL
510 520
HEAGSTDDRI VVPQRGRSTR VPVASVLI
Length:528
Mass (Da):56,630
Last modified:March 1, 2001 - v1
Checksum:iF1B9D2EB3F9F1B48
GO
Isoform 2 (identifier: Q9H2V7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     271-322: Missing.

Show »
Length:476
Mass (Da):51,333
Checksum:i99272BB60BA81889
GO
Isoform 3 (identifier: Q9H2V7-3) [UniParc]FASTAAdd to basket
Also known as: CRA_d

The sequence of this isoform differs from the canonical sequence as follows:
     81-102: Missing.
     271-322: Missing.

Show »
Length:454
Mass (Da):49,013
Checksum:i4A393F34239B87CF
GO
Isoform 4 (identifier: Q9H2V7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.

Note: No experimental confirmation available.
Show »
Length:455
Mass (Da):49,139
Checksum:i63B25A8A61A99C30
GO
Isoform 5 (identifier: Q9H2V7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     223-528: TPGLGVVAVL...TRVPVASVLI → SLVLAWG

Note: No experimental confirmation available.
Show »
Length:229
Mass (Da):24,594
Checksum:i07FF7E3B57DF8B8A
GO

Sequence cautioni

The sequence AAQ15259 differs from that shown. Reason: Frameshift at position 97.Curated
The sequence AAQ15259 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035157230A → P.1 PublicationCorresponds to variant rs17855956dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0281941 – 73Missing in isoform 4. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_02819581 – 102Missing in isoform 3. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_036389223 – 528TPGLG…ASVLI → SLVLAWG in isoform 5. 1 PublicationAdd BLAST306
Alternative sequenceiVSP_028196271 – 322Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST52

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF212371 mRNA. Translation: AAG43830.1.
AK095677 mRNA. Translation: BAC04603.1.
AK289787 mRNA. Translation: BAF82476.1.
AF370423 mRNA. Translation: AAQ15259.1. Sequence problems.
AL390215 mRNA. Translation: CAB99229.1.
AC109460 Genomic DNA. No translation available.
CH471267 Genomic DNA. Translation: EAW52018.1.
CH471267 Genomic DNA. Translation: EAW52019.1.
BC006156 mRNA. Translation: AAH06156.1.
BC008325 mRNA. Translation: AAH08325.1.
BC038961 mRNA. Translation: AAH38961.1.
BC047741 mRNA. Translation: AAH47741.1.
BC065235 mRNA. Translation: AAH65235.1.
CCDSiCCDS10646.1. [Q9H2V7-1]
CCDS45452.1. [Q9H2V7-2]
CCDS45453.1. [Q9H2V7-3]
CCDS45454.1. [Q9H2V7-4]
RefSeqiNP_001135920.1. NM_001142448.1. [Q9H2V7-1]
NP_001135921.1. NM_001142449.1. [Q9H2V7-3]
NP_001135922.1. NM_001142450.1. [Q9H2V7-4]
NP_001135923.1. NM_001142451.1. [Q9H2V7-2]
NP_114427.1. NM_032038.2. [Q9H2V7-1]
UniGeneiHs.617449.

Genome annotation databases

EnsembliENST00000311008; ENSP00000309945; ENSG00000169682. [Q9H2V7-1]
ENST00000323081; ENSP00000318228; ENSG00000169682. [Q9H2V7-4]
ENST00000334536; ENSP00000335494; ENSG00000169682. [Q9H2V7-2]
ENST00000352260; ENSP00000306050; ENSG00000169682. [Q9H2V7-3]
GeneIDi83985.
KEGGihsa:83985.
UCSCiuc002drx.3. human. [Q9H2V7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF212371 mRNA. Translation: AAG43830.1.
AK095677 mRNA. Translation: BAC04603.1.
AK289787 mRNA. Translation: BAF82476.1.
AF370423 mRNA. Translation: AAQ15259.1. Sequence problems.
AL390215 mRNA. Translation: CAB99229.1.
AC109460 Genomic DNA. No translation available.
CH471267 Genomic DNA. Translation: EAW52018.1.
CH471267 Genomic DNA. Translation: EAW52019.1.
BC006156 mRNA. Translation: AAH06156.1.
BC008325 mRNA. Translation: AAH08325.1.
BC038961 mRNA. Translation: AAH38961.1.
BC047741 mRNA. Translation: AAH47741.1.
BC065235 mRNA. Translation: AAH65235.1.
CCDSiCCDS10646.1. [Q9H2V7-1]
CCDS45452.1. [Q9H2V7-2]
CCDS45453.1. [Q9H2V7-3]
CCDS45454.1. [Q9H2V7-4]
RefSeqiNP_001135920.1. NM_001142448.1. [Q9H2V7-1]
NP_001135921.1. NM_001142449.1. [Q9H2V7-3]
NP_001135922.1. NM_001142450.1. [Q9H2V7-4]
NP_001135923.1. NM_001142451.1. [Q9H2V7-2]
NP_114427.1. NM_032038.2. [Q9H2V7-1]
UniGeneiHs.617449.

3D structure databases

ProteinModelPortaliQ9H2V7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123836. 7 interactors.
IntActiQ9H2V7. 18 interactors.
MINTiMINT-2817616.
STRINGi9606.ENSP00000309945.

Protein family/group databases

TCDBi2.A.1.49.2. the major facilitator superfamily (mfs).

PTM databases

iPTMnetiQ9H2V7.
PhosphoSitePlusiQ9H2V7.

Polymorphism and mutation databases

BioMutaiSPNS1.
DMDMi74733566.

Proteomic databases

EPDiQ9H2V7.
MaxQBiQ9H2V7.
PaxDbiQ9H2V7.
PeptideAtlasiQ9H2V7.
PRIDEiQ9H2V7.

Protocols and materials databases

DNASUi83985.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311008; ENSP00000309945; ENSG00000169682. [Q9H2V7-1]
ENST00000323081; ENSP00000318228; ENSG00000169682. [Q9H2V7-4]
ENST00000334536; ENSP00000335494; ENSG00000169682. [Q9H2V7-2]
ENST00000352260; ENSP00000306050; ENSG00000169682. [Q9H2V7-3]
GeneIDi83985.
KEGGihsa:83985.
UCSCiuc002drx.3. human. [Q9H2V7-1]

Organism-specific databases

CTDi83985.
DisGeNETi83985.
GeneCardsiSPNS1.
HGNCiHGNC:30621. SPNS1.
HPAiHPA041995.
HPA042988.
MIMi612583. gene.
neXtProtiNX_Q9H2V7.
OpenTargetsiENSG00000169682.
PharmGKBiPA162404561.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1330. Eukaryota.
COG0477. LUCA.
GeneTreeiENSGT00390000005976.
HOVERGENiHBG055503.
InParanoidiQ9H2V7.
PhylomeDBiQ9H2V7.
TreeFamiTF314395.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169682-MONOMER.

Miscellaneous databases

GenomeRNAii83985.
PROiQ9H2V7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169682.
CleanExiHS_SPIN1.
HS_SPNS1.
ExpressionAtlasiQ9H2V7. baseline and differential.
GenevisibleiQ9H2V7. HS.

Family and domain databases

CDDicd06174. MFS. 1 hit.
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...

Entry informationi

Entry nameiSPNS1_HUMAN
AccessioniPrimary (citable) accession number: Q9H2V7
Secondary accession number(s): B5MDM9
, Q6P182, Q71RB5, Q7L541, Q86VU7, Q8N953, Q8TCS5, Q9BRN5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: March 1, 2001
Last modified: November 2, 2016
This is version 127 of the entry and version 1 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 16
    Human chromosome 16: 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.