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UniProtKB - Q9UBI4 (STML1_HUMAN)

Protein

Stomatin-like protein 1

Gene

STOML1

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

Functioni

May play a role in cholesterol transfer to late endosomes (PubMed:19696025). May play a role in modulating membrane acid-sensing ion channels. Can specifically inhibit proton-gated current of ASIC1 isoform 1. Can increase inactivation speed of ASIC3. May be involved in regulation of proton sensing in dorsal root ganglions (By similarity). May play a role in protecting FBXW7 isoform 3 from degradation (PubMed:23082202).By similarity1 Publication1 Publication

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processLipid transport, Transport

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:STOML1
Synonyms:SLP1, UNC24
ORF Names:MSTP019
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000067221.13
HGNCiHGNC:14560 STOML1
MIMi608326 gene
neXtProtiNX_Q9UBI4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei58 – 78Helical; Signal-anchor for type III membrane proteinSequence analysisAdd BLAST21
Topological domaini79 – 398CytoplasmicSequence analysisAdd BLAST320

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Endosome, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi7Y → A: Plasma membrane localization. 1 Publication1
Mutagenesisi10L → S: Plasma membrane localization. 1 Publication1

Organism-specific databases

DisGeNETi9399
OpenTargetsiENSG00000067221
PharmGKBiPA37898

Polymorphism and mutation databases

BioMutaiSTOML1
DMDMi60415942

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000940291 – 398Stomatin-like protein 1Add BLAST398

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei28PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UBI4
MaxQBiQ9UBI4
PaxDbiQ9UBI4
PeptideAtlasiQ9UBI4
PRIDEiQ9UBI4
ProteomicsDBi83973
83974 [Q9UBI4-2]

PTM databases

iPTMnetiQ9UBI4
PhosphoSitePlusiQ9UBI4

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000067221 Expressed in 221 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_STOML1
ExpressionAtlasiQ9UBI4 baseline and differential
GenevisibleiQ9UBI4 HS

Organism-specific databases

HPAiHPA042353

Interactioni

Subunit structurei

Interacts with STOM; may redistribute STOM from the plasma membrane to late endosomes (PubMed:19696025). Interacts with FBXW7 isoform 3 and CDK2 (PubMed:23082202).2 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi114796, 6 interactors
IntActiQ9UBI4, 5 interactors
STRINGi9606.ENSP00000319323

Structurei

3D structure databases

ProteinModelPortaliQ9UBI4
SMRiQ9UBI4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini287 – 398SCP2Add BLAST112

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi6 – 10Tyrosine-type lysosomal sorting signalSequence analysis1 Publication5

Sequence similaritiesi

Belongs to the band 7/mec-2 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2621 Eukaryota
KOG4170 Eukaryota
COG0330 LUCA
GeneTreeiENSGT00550000074454
HOGENOMiHOG000065698
HOVERGENiHBG079220
InParanoidiQ9UBI4
OMAiQSIYFLD
OrthoDBiEOG091G0974
PhylomeDBiQ9UBI4
TreeFamiTF105750

Family and domain databases

Gene3Di3.30.1050.10, 1 hit
InterProiView protein in InterPro
IPR001107 Band_7
IPR036013 Band_7/SPFH_dom_sf
IPR003033 SCP2_sterol-bd_dom
IPR036527 SCP2_sterol-bd_dom_sf
IPR028517 SLP1
IPR001972 Stomatin_fam
PANTHERiPTHR10264:SF89 PTHR10264:SF89, 1 hit
PfamiView protein in Pfam
PF01145 Band_7, 1 hit
PF02036 SCP2, 1 hit
PRINTSiPR00721 STOMATIN
SMARTiView protein in SMART
SM00244 PHB, 1 hit
SUPFAMiSSF117892 SSF117892, 1 hit
SSF55718 SSF55718, 1 hit

Sequences (6+)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UBI4-1) [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
MLGRSGYRAL PLGDFDRFQQ SSFGFLGSQK GCLSPERGGV GTGADVPQSW 
        60         70         80         90        100
PSCLCHGLIS FLGFLLLLVT FPISGWFALK IVPTYERMIV FRLGRIRTPQ 
       110        120        130        140        150
GPGMVLLLPF IDSFQRVDLR TRAFNVPPCK LASKDGAVLS VGADVQFRIW 
       160        170        180        190        200
DPVLSVMTVK DLNTATRMTA QNAMTKALLK RPLREIQMEK LKISDQLLLE 
       210        220        230        240        250
INDVTRAWGL EVDRVELAVE AVLQPPQDSP AGPNLDSTLQ QLALHFLGGS 
       260        270        280        290        300
MNSMAGGAPS PGPADTVEMV SEVEPPAPQV GARSSPKQPL AEGLLTALQP 
       310        320        330        340        350
FLSEALVSQV GACYQFNVVL PSGTQSAYFL DLTTGRGRVG HGVPDGIPDV 
       360        370        380        390 
VVEMAEADLR ALLCRELRPL GAYMSGRLKV KGDLAMAMKL EAVLRALK
Length:398
Mass (Da):42,968
Last modified:May 1, 2000 - v1
Checksum:iA9850C26394E1C3D
GO
Isoform 2 (identifier: Q9UBI4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     80-129: Missing.

Show »
Length:348
Mass (Da):37,170
Checksum:i436B02A898059006
GO
Isoform 3 (identifier: Q9UBI4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     264-264: Missing.

Show »
Length:397
Mass (Da):42,897
Checksum:iD88DFC8B3AB37397
GO
Isoform 4 (identifier: Q9UBI4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     80-129: Missing.
     264-264: Missing.

Note: No experimental confirmation available.
Show »
Length:347
Mass (Da):37,099
Checksum:i2683722A713F4830
GO
Isoform 5 (identifier: Q9UBI4-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-44: MLGRSGYRALPLGDFDRFQQSSFGFLGSQKGCLSPERGGVGTGA → MP
     264-264: Missing.

Note: No experimental confirmation available.
Show »
Length:355
Mass (Da):38,534
Checksum:i59AB1BE8E1A34A9A
GO
Isoform 6 (identifier: Q9UBI4-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     264-264: Missing.
     265-334: Missing.

Note: No experimental confirmation available.
Show »
Length:327
Mass (Da):35,520
Checksum:i7910E73D608CEED9
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BQA9H3BQA9_HUMAN
Stomatin-like protein 1
STOML1
137Annotation score:
H3BPC1H3BPC1_HUMAN
Stomatin-like protein 1
STOML1
91Annotation score:
H3BST3H3BST3_HUMAN
Stomatin-like protein 1
STOML1
310Annotation score:
H3BVF2H3BVF2_HUMAN
Stomatin-like protein 1
STOML1
92Annotation score:

Sequence cautioni

The sequence AAD42031 differs from that shown. Reason: Frameshift at positions 201 and 210.Curated
The sequence CAA76271 differs from that shown. Reason: Frameshift at positions 230, 233, 263, 292 and 300.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti50W → G in CAG46886 (Ref. 5) Curated1
Sequence conflicti222V → L in AAL39002 (Ref. 3) Curated1
Sequence conflicti291A → T in CAG46886 (Ref. 5) Curated1
Sequence conflicti369P → R in CAA76271 (PubMed:9931417).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0546481 – 44MLGRS…VGTGA → MP in isoform 5. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_01265480 – 129Missing in isoform 2 and isoform 4. 3 PublicationsAdd BLAST50
Alternative sequenceiVSP_054649264Missing in isoform 3, isoform 4, isoform 5 and isoform 6. 4 Publications1
Alternative sequenceiVSP_054650265 – 334Missing in isoform 6. 1 PublicationAdd BLAST70

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y16522 mRNA Translation: CAA76271.1 Frameshift.
AF156564
, 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
CCDSiCCDS10254.1 [Q9UBI4-1]
CCDS58382.1 [Q9UBI4-5]
CCDS58383.1 [Q9UBI4-4]
CCDS58384.1 [Q9UBI4-2]
CCDS58385.1 [Q9UBI4-6]
RefSeqiNP_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_006720773.3
UniGeneiHs.194816

Genome annotation databases

EnsembliENST00000316900; ENSP00000319323; ENSG00000067221 [Q9UBI4-5]
ENST00000316911; ENSP00000319384; ENSG00000067221 [Q9UBI4-2]
ENST00000359750; ENSP00000352788; ENSG00000067221 [Q9UBI4-6]
ENST00000541638; ENSP00000442478; ENSG00000067221 [Q9UBI4-1]
ENST00000564777; ENSP00000456343; ENSG00000067221 [Q9UBI4-4]
GeneIDi9399
KEGGihsa:9399
UCSCiuc002awe.5 human [Q9UBI4-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y16522 mRNA Translation: CAA76271.1 Frameshift.
AF156564
, 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
CCDSiCCDS10254.1 [Q9UBI4-1]
CCDS58382.1 [Q9UBI4-5]
CCDS58383.1 [Q9UBI4-4]
CCDS58384.1 [Q9UBI4-2]
CCDS58385.1 [Q9UBI4-6]
RefSeqiNP_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_006720773.3
UniGeneiHs.194816

3D structure databases

ProteinModelPortaliQ9UBI4
SMRiQ9UBI4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114796, 6 interactors
IntActiQ9UBI4, 5 interactors
STRINGi9606.ENSP00000319323

PTM databases

iPTMnetiQ9UBI4
PhosphoSitePlusiQ9UBI4

Polymorphism and mutation databases

BioMutaiSTOML1
DMDMi60415942

Proteomic databases

EPDiQ9UBI4
MaxQBiQ9UBI4
PaxDbiQ9UBI4
PeptideAtlasiQ9UBI4
PRIDEiQ9UBI4
ProteomicsDBi83973
83974 [Q9UBI4-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316900; ENSP00000319323; ENSG00000067221 [Q9UBI4-5]
ENST00000316911; ENSP00000319384; ENSG00000067221 [Q9UBI4-2]
ENST00000359750; ENSP00000352788; ENSG00000067221 [Q9UBI4-6]
ENST00000541638; ENSP00000442478; ENSG00000067221 [Q9UBI4-1]
ENST00000564777; ENSP00000456343; ENSG00000067221 [Q9UBI4-4]
GeneIDi9399
KEGGihsa:9399
UCSCiuc002awe.5 human [Q9UBI4-1]

Organism-specific databases

CTDi9399
DisGeNETi9399
EuPathDBiHostDB:ENSG00000067221.13
GeneCardsiSTOML1
HGNCiHGNC:14560 STOML1
HPAiHPA042353
MIMi608326 gene
neXtProtiNX_Q9UBI4
OpenTargetsiENSG00000067221
PharmGKBiPA37898
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2621 Eukaryota
KOG4170 Eukaryota
COG0330 LUCA
GeneTreeiENSGT00550000074454
HOGENOMiHOG000065698
HOVERGENiHBG079220
InParanoidiQ9UBI4
OMAiQSIYFLD
OrthoDBiEOG091G0974
PhylomeDBiQ9UBI4
TreeFamiTF105750

Miscellaneous databases

ChiTaRSiSTOML1 human
GeneWikiiSTOML1
GenomeRNAii9399
PROiPR:Q9UBI4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000067221 Expressed in 221 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_STOML1
ExpressionAtlasiQ9UBI4 baseline and differential
GenevisibleiQ9UBI4 HS

Family and domain databases

Gene3Di3.30.1050.10, 1 hit
InterProiView protein in InterPro
IPR001107 Band_7
IPR036013 Band_7/SPFH_dom_sf
IPR003033 SCP2_sterol-bd_dom
IPR036527 SCP2_sterol-bd_dom_sf
IPR028517 SLP1
IPR001972 Stomatin_fam
PANTHERiPTHR10264:SF89 PTHR10264:SF89, 1 hit
PfamiView protein in Pfam
PF01145 Band_7, 1 hit
PF02036 SCP2, 1 hit
PRINTSiPR00721 STOMATIN
SMARTiView protein in SMART
SM00244 PHB, 1 hit
SUPFAMiSSF117892 SSF117892, 1 hit
SSF55718 SSF55718, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSTML1_HUMAN
AccessioniPrimary (citable) accession number: Q9UBI4
Secondary accession number(s): B3KQN0
, B4DUU5, B4DXM9, E7ESC0, H3BRP3, O95675, Q4PNR4, Q6FGL8, Q8WYI7, Q9UMB9, Q9UMC0, Q9Y6H9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: May 1, 2000
Last modified: October 10, 2018
This is version 135 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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