Q9H2V7 (SPNS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 94.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Protein spinster homolog 1 Alternative name(s): HSpin1 Spinster-like protein 1 | ||||||
| Gene names |
| ||||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 528 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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 (TC 2.A.1) 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. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Lipid transport Transport |
| Cellular component | Membrane Mitochondrion Mitochondrion inner membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transmembrane Transmembrane helix |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | lipid transport Inferred from electronic annotation. Source: UniProtKB-KW transmembrane transportInferred from electronic annotation. Source: InterPro |
| Cellular_component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial inner membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| BCL2L1 | Q07817 | 3 | EBI-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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 528 | 528 | Protein spinster homolog 1 | PRO_0000305039 | |||||
Regions | |||||||||
| Transmembrane | 50 – 70 | 21 | Helical; Potential | ||||||
| Transmembrane | 98 – 118 | 21 | Helical; Potential | ||||||
| Transmembrane | 127 – 147 | 21 | Helical; Potential | ||||||
| Transmembrane | 160 – 180 | 21 | Helical; Potential | ||||||
| Transmembrane | 187 – 207 | 21 | Helical; Potential | ||||||
| Transmembrane | 218 – 238 | 21 | Helical; Potential | ||||||
| Transmembrane | 278 – 298 | 21 | Helical; Potential | ||||||
| Transmembrane | 323 – 343 | 21 | Helical; Potential | ||||||
| Transmembrane | 357 – 377 | 21 | Helical; Potential | ||||||
| Transmembrane | 381 – 401 | 21 | Helical; Potential | ||||||
| Transmembrane | 421 – 441 | 21 | Helical; Potential | ||||||
| Transmembrane | 465 – 485 | 21 | Helical; Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 518 | 1 | Phosphoserine Ref.9 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 73 | 73 | Missing in isoform 4. | VSP_028194 | |||||
| Alternative sequence | 81 – 102 | 22 | Missing in isoform 3. | VSP_028195 | |||||
| Alternative sequence | 223 – 528 | 306 | TPGLG…ASVLI → SLVLAWG in isoform 5. | VSP_036389 | |||||
| Alternative sequence | 271 – 322 | 52 | Missing in isoform 2 and isoform 3. | VSP_028196 | |||||
| Natural variant | 230 | 1 | A → P. Ref.7 Corresponds to variant rs17855956 [ dbSNP | Ensembl ]. | VAR_035157 | |||||
Sequences
| ||||||||||||||||||||||||||||||||||||||||||
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. 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. 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. 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. 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, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [10] | "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. |
| IPI | IPI00152429. IPI00384364. IPI00640928. IPI00645679. IPI00921141. |
| RefSeq | NP_001135920.1. NM_001142448.1. NP_001135921.1. NM_001142449.1. NP_001135922.1. NM_001142450.1. NP_001135923.1. NM_001142451.1. NP_114427.1. NM_032038.2. |
| UniGene | Hs.617449. |
3D structure databases | |
| ProteinModelPortal | Q9H2V7. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9H2V7. 7 interactions. |
| MINT | MINT-2817616. |
Protein family/group databases | |
| TCDB | 2.A.1.49.2. major facilitator superfamily (MFS). |
PTM databases | |
| PhosphoSite | Q9H2V7. |
Polymorphism databases | |
| DMDM | 74733566. |
Proteomic databases | |
| PaxDb | Q9H2V7. |
| PRIDE | Q9H2V7. |
Protocols and materials databases | |
| DNASU | 83985. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000311008; ENSP00000309945; ENSG00000169682. ENST00000323081; ENSP00000318228; ENSG00000169682. ENST00000334536; ENSP00000335494; ENSG00000169682. ENST00000352260; ENSP00000306050; ENSG00000169682. |
| GeneID | 83985. |
| KEGG | hsa:83985. |
| UCSC | uc002drx.2. human. uc002dry.2. human. uc002drz.2. human. uc010byp.2. human. |
Organism-specific databases | |
| CTD | 83985. |
| GeneCards | GC16P028986. |
| HGNC | HGNC:30621. SPNS1. |
| HPA | HPA041995. HPA042988. |
| MIM | 612583. gene. |
| neXtProt | NX_Q9H2V7. |
| PharmGKB | PA162404561. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0477. |
| HOVERGEN | HBG055503. |
| InParanoid | Q9H2V7. |
| OMA | WQILISH. |
| OrthoDB | EOG451DQM. |
| PhylomeDB | Q9H2V7. |
Gene expression databases | |
| ArrayExpress | Q9H2V7. |
| Bgee | Q9H2V7. |
| CleanEx | HS_SPIN1. HS_SPNS1. |
| Genevestigator | Q9H2V7. |
Family and domain databases | |
| InterPro | IPR011701. MFS. IPR020846. MFS_dom. IPR016196. MFS_dom_general_subst_transpt. [Graphical view] |
| Pfam | PF07690. MFS_1. 1 hit. [Graphical view] |
| SUPFAM | SSF103473. MFS_gen_substrate_transporter. 1 hit. |
| PROSITE | PS50850. MFS. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 83985. |
| NextBio | 73114. |
| SOURCE | Search... |
Entry information
| Entry name | SPNS1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9H2V7 Secondary accession number(s): B5MDM9 Q9BRN5 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 16 Human chromosome 16: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
