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Q9UBI4 (STML1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 105. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | 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:
Stomatin-like protein 1

Short name=SLP-1
Alternative name(s):
EPB72-like protein 1
Protein unc-24 homolog
Stomatin-related protein
Short name=STORP
Gene names
Name:STOML1
Synonyms:SLP1, UNC24
ORF Names:MSTP019
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length398 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Membrane; Single-pass type III membrane protein Potential.

Tissue specificity

Ubiquitously expressed at low levels. Expression is highest in brain. Ref.1 Ref.2

Sequence similarities

Belongs to the band 7/mec-2 family.

Contains 1 SCP2 domain.

Sequence caution

The sequence AAD42031.1 differs from that shown. Reason: Frameshift at positions 201 and 210.

The sequence CAA76271.1 differs from that shown. Reason: Frameshift at positions 230, 233, 263, 292 and 300.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
   DomainSignal-anchor
Transmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionprotein binding

Inferred from physical interaction PubMed 23082202. Source: IntAct

sterol binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UBI4-1)

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: Q9UBI4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     80-129: Missing.
Isoform 3 (identifier: Q9UBI4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     264-264: Missing.
Isoform 4 (identifier: Q9UBI4-4)

The sequence of this isoform differs from the canonical sequence as follows:
     80-129: Missing.
     264-264: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q9UBI4-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-44: MLGRSGYRALPLGDFDRFQQSSFGFLGSQKGCLSPERGGVGTGA → MP
     264-264: Missing.
Note: No experimental confirmation available.
Isoform 6 (identifier: Q9UBI4-6)

The sequence of this isoform differs from the canonical sequence as follows:
     264-264: Missing.
     265-334: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 398398Stomatin-like protein 1
PRO_0000094029

Regions

Transmembrane58 – 7821Helical; Signal-anchor for type III membrane protein; Potential
Topological domain79 – 398320Cytoplasmic Potential
Domain287 – 398112SCP2

Natural variations

Alternative sequence1 – 4444MLGRS…VGTGA → MP in isoform 5.
VSP_054648
Alternative sequence80 – 12950Missing in isoform 2 and isoform 4.
VSP_012654
Alternative sequence2641Missing in isoform 3, isoform 4, isoform 5 and isoform 6.
VSP_054649
Alternative sequence265 – 33470Missing in isoform 6.
VSP_054650

Experimental info

Sequence conflict501W → G in CAG46886. Ref.5
Sequence conflict2221V → L in AAL39002. Ref.3
Sequence conflict2911A → T in CAG46886. Ref.5
Sequence conflict3691P → R in CAA76271. Ref.1

Sequences

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

Last modified May 1, 2000. Version 1.
Checksum: A9850C26394E1C3D

FASTA39842,968
        10         20         30         40         50         60 
MLGRSGYRAL PLGDFDRFQQ SSFGFLGSQK GCLSPERGGV GTGADVPQSW PSCLCHGLIS 

        70         80         90        100        110        120 
FLGFLLLLVT FPISGWFALK IVPTYERMIV FRLGRIRTPQ GPGMVLLLPF IDSFQRVDLR 

       130        140        150        160        170        180 
TRAFNVPPCK LASKDGAVLS VGADVQFRIW DPVLSVMTVK DLNTATRMTA QNAMTKALLK 

       190        200        210        220        230        240 
RPLREIQMEK LKISDQLLLE INDVTRAWGL EVDRVELAVE AVLQPPQDSP AGPNLDSTLQ 

       250        260        270        280        290        300 
QLALHFLGGS MNSMAGGAPS PGPADTVEMV SEVEPPAPQV GARSSPKQPL AEGLLTALQP 

       310        320        330        340        350        360 
FLSEALVSQV GACYQFNVVL PSGTQSAYFL DLTTGRGRVG HGVPDGIPDV VVEMAEADLR 

       370        380        390 
ALLCRELRPL GAYMSGRLKV KGDLAMAMKL EAVLRALK 

« Hide

Isoform 2 [UniParc].

Checksum: 436B02A898059006
Show »

FASTA34837,170
Isoform 3 [UniParc].

Checksum: D88DFC8B3AB37397
Show »

FASTA39742,897
Isoform 4 [UniParc].

Checksum: 2683722A713F4830
Show »

FASTA34737,099
Isoform 5 [UniParc].

Checksum: 59AB1BE8E1A34A9A
Show »

FASTA35538,534
Isoform 6 [UniParc].

Checksum: 7910E73D608CEED9
Show »

FASTA32735,520

References

« Hide 'large scale' references
[1]"Molecular cloning of hSLP-1, a novel human brain-specific member of the band 7/MEC-2 family similar to Caenorhabditis elegans UNC-24."
Seidel G., Prohaska R.
Gene 225:23-29(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
Tissue: Brain cortex.
[2]"A novel gene STORP (STOmatin-Related Protein) is localized 2 kb upstream of the promyelocytic gene on chromosome 15q22."
Gilles F., Glenn M., Goy A., Remache Y., Zelenetz A.D.
Eur. J. Haematol. 64:104-113(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
Tissue: Fetal liver.
[3]Xu Y.Y., Sun L.Z., Wu Q.Y., Liu Y.Q., Liu B., Zhao B., Wang X.Y., Song L., Ye J., Sheng H., Gao Y., Zhang C.L., Zhang J.-W., Wei Y.J., Sun Y.H., Jiang Y.X., Zhao X.W., Liu S. expand/collapse author list , Liu L.S., Ding J.F., Gao R.L., Qiang B.Q., Yuan J.G., Liew C.C., Zhao M.S., Hui R.T.
Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Aorta.
[4]Li H., Nong W., Zhou G., Ke R., Shen C., Zhong G., Zheng Z., Liang M., Wen S., Lin L., Yang S.
Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6).
[5]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]"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] (ISOFORMS 2 AND 5).
Tissue: Testis.
[7]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. expand/collapse author list , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Thyroid.
[9]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].
[10]"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 1).
Tissue: Colon and Lung.
[11]"UNC-24/hunc-24 implicates stomatin and stomatin-like proteins in the function of the lipid bilayer."
Barnes T.M., Benard C., Hekimi S.
Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 8-398 (ISOFORM 3).
[12]The European IMAGE consortium
Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 8-398 (ISOFORM 4).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Y16522 mRNA. Translation: CAA76271.1. Frameshift.
AF156564 expand/collapse EMBL AC list , AF156558, AF156560, AF156559, AF156563, AF156562, AF156561 Genomic DNA. Translation: AAF23080.1.
AF156557 mRNA. Translation: AAF06960.1.
AF111800 mRNA. Translation: AAL39002.1.
DQ064605 mRNA. Translation: AAY68393.1.
CR542089 mRNA. Translation: CAG46886.1.
AK300799 mRNA. Translation: BAG62457.1.
AK302051 mRNA. Translation: BAG63441.1.
AK075244 mRNA. Translation: BAG52092.1.
AC108137 Genomic DNA. No translation available.
CH471082 Genomic DNA. Translation: EAW77940.1.
CH471082 Genomic DNA. Translation: EAW77944.1.
BC034379 mRNA. Translation: AAH34379.1.
BC065249 mRNA. Translation: AAH65249.1.
AF074953 mRNA. Translation: AAD42031.1. Frameshift.
AL109664 mRNA. Translation: CAB52015.1.
AL109665 mRNA. Translation: CAB52016.1.
CCDSCCDS10254.1. [Q9UBI4-1]
CCDS58384.1. [Q9UBI4-2]
RefSeqNP_001243601.1. NM_001256672.1. [Q9UBI4-3]
NP_001243602.1. NM_001256673.1. [Q9UBI4-2]
NP_001243603.1. NM_001256674.1. [Q9UBI4-4]
NP_001243604.1. NM_001256675.1. [Q9UBI4-6]
NP_001243605.1. NM_001256676.1.
NP_001243606.1. NM_001256677.1. [Q9UBI4-5]
NP_004800.2. NM_004809.4. [Q9UBI4-1]
XP_006720836.1. XM_006720773.1. [Q9UBI4-5]
UniGeneHs.194816.

3D structure databases

ProteinModelPortalQ9UBI4.
SMRQ9UBI4. Positions 117-217, 306-391.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114796. 7 interactions.
IntActQ9UBI4. 3 interactions.

PTM databases

PhosphoSiteQ9UBI4.

Polymorphism databases

DMDM60415942.

Proteomic databases

MaxQBQ9UBI4.
PaxDbQ9UBI4.
PRIDEQ9UBI4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000316900; ENSP00000319323; ENSG00000067221. [Q9UBI4-1]
ENST00000316911; ENSP00000319384; ENSG00000067221. [Q9UBI4-2]
ENST00000359750; ENSP00000352788; ENSG00000067221.
ENST00000541638; ENSP00000442478; ENSG00000067221.
GeneID9399.
KEGGhsa:9399.
UCSCuc002awe.4. human. [Q9UBI4-1]
uc002awh.4. human. [Q9UBI4-2]

Organism-specific databases

CTD9399.
GeneCardsGC15M074275.
HGNCHGNC:14560. STOML1.
HPAHPA042353.
MIM608326. gene.
neXtProtNX_Q9UBI4.
PharmGKBPA37898.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0330.
HOVERGENHBG079220.
InParanoidQ9UBI4.
OMAPSCLCHG.
PhylomeDBQ9UBI4.
TreeFamTF105750.

Gene expression databases

ArrayExpressQ9UBI4.
BgeeQ9UBI4.
CleanExHS_STOML1.
GenevestigatorQ9UBI4.

Family and domain databases

Gene3D3.30.1050.10. 1 hit.
InterProIPR001107. Band_7.
IPR003033. SCP2_sterol-bd_dom.
IPR028517. SLP1.
IPR001972. Stomatin_fam.
[Graphical view]
PANTHERPTHR10264. PTHR10264. 1 hit.
PTHR10264:SF70. PTHR10264:SF70. 1 hit.
PfamPF01145. Band_7. 1 hit.
PF02036. SCP2. 1 hit.
[Graphical view]
PRINTSPR00721. STOMATIN.
SMARTSM00244. PHB. 1 hit.
[Graphical view]
SUPFAMSSF55718. SSF55718. 1 hit.
ProtoNetSearch...

Other

ChiTaRSSTOML1. human.
GeneWikiSTOML1.
GenomeRNAi9399.
NextBio35207.
PROQ9UBI4.
SOURCESearch...

Entry information

Entry nameSTML1_HUMAN
AccessionPrimary (citable) accession number: Q9UBI4
Secondary accession number(s): B3KQN0 expand/collapse secondary AC list , B4DUU5, B4DXM9, E7ESC0, H3BRP3, O95675, Q4PNR4, Q6FGL8, Q8WYI7, Q9UMB9, Q9UMC0, Q9Y6H9
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 105 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 chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM