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Q9H2V7 (SPNS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein spinster homolog 1
Alternative name(s):
HSpin1
Spinster-like protein 1
Gene names
Name:SPNS1
Synonyms:SPIN1
ORF Names:PP20300
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length528 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Sphingolipid transporter By similarity. May be involved in necrotic or autophagic cell death. Ref.8

Subunit structure

Interacts with BCL2 and BCL2L1. Ref.8

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein. Note: Colocalizes with SDHB. Ref.8

Sequence similarities

Belongs to the major facilitator superfamily. Spinster (TC 2.A.1.49) family. [View classification]

Sequence caution

The sequence AAQ15259.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAQ15259.1 differs from that shown. Reason: Frameshift at position 97.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

BCL2L1Q078173EBI-1386527,EBI-78035

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H2V7-1)

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.
Isoform 2 (identifier: Q9H2V7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     271-322: Missing.
Isoform 3 (identifier: Q9H2V7-3)

Also known as: CRA_d;

The sequence of this isoform differs from the canonical sequence as follows:
     81-102: Missing.
     271-322: Missing.
Isoform 4 (identifier: Q9H2V7-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q9H2V7-5)

The sequence of this isoform differs from the canonical sequence as follows:
     223-528: TPGLGVVAVL...TRVPVASVLI → SLVLAWG
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.10
Chain2 – 528527Protein spinster homolog 1
PRO_0000305039

Regions

Transmembrane50 – 7021Helical; Potential
Transmembrane98 – 11821Helical; Potential
Transmembrane127 – 14721Helical; Potential
Transmembrane160 – 18021Helical; Potential
Transmembrane187 – 20721Helical; Potential
Transmembrane218 – 23821Helical; Potential
Transmembrane278 – 29821Helical; Potential
Transmembrane323 – 34321Helical; Potential
Transmembrane357 – 37721Helical; Potential
Transmembrane381 – 40121Helical; Potential
Transmembrane421 – 44121Helical; Potential
Transmembrane465 – 48521Helical; Potential

Amino acid modifications

Modified residue21N-acetylalanine Ref.10
Modified residue5181Phosphoserine Ref.9

Natural variations

Alternative sequence1 – 7373Missing in isoform 4.
VSP_028194
Alternative sequence81 – 10222Missing in isoform 3.
VSP_028195
Alternative sequence223 – 528306TPGLG…ASVLI → SLVLAWG in isoform 5.
VSP_036389
Alternative sequence271 – 32252Missing in isoform 2 and isoform 3.
VSP_028196
Natural variant2301A → P. Ref.7
Corresponds to variant rs17855956 [ dbSNP | Ensembl ].
VAR_035157

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: F1B9D2EB3F9F1B48

FASTA52856,630
        10         20         30         40         50         60 
MAGSDTAPFL SQADDPDDGP VPGTPGLPGS TGNPKSEEPE VPDQEGLQRI TGLSPGRSAL 

        70         80         90        100        110        120 
IVAVLCYINL LNYMDRFTVA GVLPDIEQFF NIGDSSSGLI QTVFISSYMV LAPVFGYLGD 

       130        140        150        160        170        180 
RYNRKYLMCG GIAFWSLVTL GSSFIPGEHF WLLLLTRGLV GVGEASYSTI APTLIADLFV 

       190        200        210        220        230        240 
ADQRSRMLSI FYFAIPVGSG LGYIAGSKVK DMAGDWHWAL RVTPGLGVVA VLLLFLVVRE 

       250        260        270        280        290        300 
PPRGAVERHS DLPPLNPTSW WADLRALARN PSFVLSSLGF TAVAFVTGSL ALWAPAFLLR 

       310        320        330        340        350        360 
SRVVLGETPP CLPGDSCSSS DSLIFGLITC LTGVLGVGLG VEISRRLRHS NPRADPLVCA 

       370        380        390        400        410        420 
TGLLGSAPFL FLSLACARGS IVATYIFIFI GETLLSMNWA IVADILLYVV IPTRRSTAEA 

       430        440        450        460        470        480 
FQIVLSHLLG DAGSPYLIGL ISDRLRRNWP PSFLSEFRAL QFSLMLCAFV GALGGAAFLG 

       490        500        510        520 
TAIFIEADRR RAQLHVQGLL HEAGSTDDRI VVPQRGRSTR VPVASVLI 

« Hide

Isoform 2 [UniParc].

Checksum: 99272BB60BA81889
Show »

FASTA47651,333
Isoform 3 (CRA_d) [UniParc].

Checksum: 4A393F34239B87CF
Show »

FASTA45449,013
Isoform 4 [UniParc].

Checksum: 63B25A8A61A99C30
Show »

FASTA45549,139
Isoform 5 [UniParc].

Checksum: 07FF7E3B57DF8B8A
Show »

FASTA22924,594

References

« Hide 'large scale' references
[1]"Mutations in the novel membrane protein spinster interfere with programmed cell death and cause neural degeneration in Drosophila melanogaster."
Nakano Y., Fujitani K., Kurihara J., Ragan J., Usui-Aoki K., Shimoda L., Lukacsovich T., Suzuki K., Sezaki M., Sano Y., Ueda R., Awano W., Kaneda M., Umeda M., Yamamoto D.
Mol. Cell. Biol. 21:3775-3788(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"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. expand/collapse author list , 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 5).
Tissue: Brain.
[3]"Large-scale cDNA transfection screening for genes related to cancer development and progression."
Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. expand/collapse author list , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Mammary cancer.
[5]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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] (ISOFORMS 1 AND 2), VARIANT PRO-230.
Tissue: Blood, Brain, Pancreas and Skin.
[8]"HSpin1, a transmembrane protein interacting with Bcl-2/Bcl-xL, induces a caspase-independent autophagic cell death."
Yanagisawa H., Miyashita T., Nakano Y., Yamamoto D.
Cell Death Differ. 10:798-807(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH BCL2 AND BCL2L1.
[9]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-518, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
[11]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS10646.1. [Q9H2V7-1]
CCDS45452.1. [Q9H2V7-2]
CCDS45453.1. [Q9H2V7-3]
CCDS45454.1. [Q9H2V7-4]
RefSeqNP_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]
UniGeneHs.617449.

3D structure databases

ProteinModelPortalQ9H2V7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123836. 5 interactions.
IntActQ9H2V7. 7 interactions.
MINTMINT-2817616.

Protein family/group databases

TCDB2.A.1.49.2. the major facilitator superfamily (mfs).

PTM databases

PhosphoSiteQ9H2V7.

Polymorphism databases

DMDM74733566.

Proteomic databases

MaxQBQ9H2V7.
PaxDbQ9H2V7.
PRIDEQ9H2V7.

Protocols and materials databases

DNASU83985.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000311008; ENSP00000309945; ENSG00000169682. [Q9H2V7-1]
ENST00000323081; ENSP00000318228; ENSG00000169682. [Q9H2V7-4]
ENST00000334536; ENSP00000335494; ENSG00000169682. [Q9H2V7-2]
ENST00000352260; ENSP00000306050; ENSG00000169682. [Q9H2V7-3]
GeneID83985.
KEGGhsa:83985.
UCSCuc002drx.2. human. [Q9H2V7-1]
uc002dry.2. human. [Q9H2V7-5]
uc002drz.2. human. [Q9H2V7-2]
uc010byp.2. human. [Q9H2V7-3]

Organism-specific databases

CTD83985.
GeneCardsGC16P028986.
HGNCHGNC:30621. SPNS1.
HPAHPA041995.
HPA042988.
MIM612583. gene.
neXtProtNX_Q9H2V7.
PharmGKBPA162404561.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0477.
HOVERGENHBG055503.
InParanoidQ9H2V7.
PhylomeDBQ9H2V7.
TreeFamTF314395.

Gene expression databases

BgeeQ9H2V7.
CleanExHS_SPIN1.
HS_SPNS1.
GenevestigatorQ9H2V7.

Family and domain databases

InterProIPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view]
PfamPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMSSF103473. SSF103473. 1 hit.
PROSITEPS50850. MFS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi83985.
NextBio73114.
PROQ9H2V7.
SOURCESearch...

Entry information

Entry nameSPNS1_HUMAN
AccessionPrimary (citable) accession number: Q9H2V7
Secondary accession number(s): B5MDM9 expand/collapse secondary AC list , Q6P182, Q71RB5, Q7L541, Q86VU7, Q8N953, Q8TCS5, Q9BRN5
Entry history
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM