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STOML1 stomatin like 1 [ Homo sapiens (human) ]

Gene ID: 9399, updated on 5-Mar-2024

Summary

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Official Symbol
STOML1provided by HGNC
Official Full Name
stomatin like 1provided by HGNC
Primary source
HGNC:HGNC:14560
See related
Ensembl:ENSG00000067221 MIM:608326; AllianceGenome:HGNC:14560
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SLP-1; STORP; hUNC-24
Summary
Predicted to enable ion channel inhibitor activity. Predicted to be involved in lipid transport. Predicted to act upstream of or within SMAD protein signal transduction; cellular response to leukemia inhibitory factor; and negative regulation of acid-sensing ion channel activity. Predicted to be located in cytoplasmic vesicle. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 7.6), thyroid (RPKM 3.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
15q24.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (73978926..73994622, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (71796271..71811967, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (74271267..74286963, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74173695-74174256 Neighboring gene TBC1 domain family member 21 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74179454-74179712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74194653-74195154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74214297-74215284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74215285-74216270 Neighboring gene LOXL1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74219309-74220142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74220143-74220976 Neighboring gene Sharpr-MPRA regulatory region 13651 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74229856-74230455 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74232882-74233777 Neighboring gene lysyl oxidase like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74244872-74245555 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74249081-74250280 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9732 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74280304-74281503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9737 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74289929-74290431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9739 Neighboring gene PML nuclear body scaffold Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74311530-74311700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74329432-74330313 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74333577-74334149 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74338704-74338895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74357879-74358380 Neighboring gene dynamin 1 pseudogene 33

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A novel gene STORP (STOmatin-Related Protein) is localized 2 kb upstream of the promyelocytic gene on chromosome 15q22. Gilles F, et al. Eur J Haematol, 2000 Feb. PMID 10997330
  2. 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, et al. Gene, 1998 Dec 28. PMID 9931417
  3. The stomatin-like protein SLP-1 and Cdk2 interact with the F-Box protein Fbw7-γ. Zhang W, et al. PLoS One, 2012. PMID 23082202, Free PMC Article
  4. Stomatin-like protein-1 interacts with stomatin and is targeted to late endosomes. Mairhofer M, et al. J Biol Chem, 2009 Oct 16. PMID 19696025, Free PMC Article
  5. Stomatin-domain proteins. Lapatsina L, et al. Eur J Cell Biol, 2012 Apr. PMID 21501885

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ36370

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in lipid transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in late endosome membrane IEA
Inferred from Electronic Annotation
more info
  
located_in membrane raft IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
stomatin-like protein 1
Names
EPB72-like 1
EPB72-like protein 1
protein unc-24 homolog
stomatin (EBP72)-like 1
stomatin (EPB72)-like 1
stomatin-related protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001256672.2 → NP_001243601.1  stomatin-like protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001243601.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC108137, AF156557, AK222665, AK302051, AL109665
    UniProtKB/TrEMBL
    Q53HB6
    Conserved Domains (3) summary
    smart00244
    Location:77 → 217
    PHB; prohibitin homologues
    cd13436
    Location:94 → 224
    SPFH_SLP-1; Stomatin-like protein 1 (SLP-1), a subgroup of the stomatin-like proteins (slipins) family; belonging to the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    pfam02036
    Location:303 → 394
    SCP2; SCP-2 sterol transfer family

  2. NM_001256673.1 → NP_001243602.1  stomatin-like protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001243602.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AF156557, AK302051
    Consensus CDS
    CCDS58384.1
    UniProtKB/TrEMBL
    Q53HB6
    Related
    ENSP00000319384.6, ENST00000316911.10
    Conserved Domains (3) summary
    smart00244
    Location:83 → 167
    PHB; prohibitin homologues
    pfam02036
    Location:254 → 345
    SCP2; SCP-2 sterol transfer family
    cl19107
    Location:79 → 174
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

  3. NM_001256674.2 → NP_001243603.1  stomatin-like protein 1 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an exon and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AC108137, AF156557, AK302051, AL109664
    Consensus CDS
    CCDS58383.1
    UniProtKB/TrEMBL
    Q53HB6
    Related
    ENSP00000456343.1, ENST00000564777.5
    Conserved Domains (3) summary
    smart00244
    Location:83 → 167
    PHB; prohibitin homologues
    pfam02036
    Location:253 → 344
    SCP2; SCP-2 sterol transfer family
    cl19107
    Location:79 → 174
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

  4. NM_001256675.2 → NP_001243604.1  stomatin-like protein 1 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
    Source sequence(s)
    AC108137, AF156557, AK302051, DQ064605
    Consensus CDS
    CCDS58385.1
    UniProtKB/TrEMBL
    Q53HB6
    Related
    ENSP00000352788.4, ENST00000359750.8
    Conserved Domains (3) summary
    smart00244
    Location:77 → 217
    PHB; prohibitin homologues
    cd13436
    Location:94 → 224
    SPFH_SLP-1; Stomatin-like protein 1 (SLP-1), a subgroup of the stomatin-like proteins (slipins) family; belonging to the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    pfam02036
    Location:264 → 324
    SCP2; SCP-2 sterol transfer family

  5. NM_001256676.1 → NP_001243605.1  stomatin-like protein 1 isoform 6

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, initiates translation at a downstream, in-frame start codon and uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.
    Source sequence(s)
    AK302051, AL109665, AL533460, BX464941
    Consensus CDS
    CCDS58381.1
    UniProtKB/TrEMBL
    H3BST3
    Related
    ENSP00000456853.1, ENST00000561656.5
    Conserved Domains (4) summary
    smart00244
    Location:1 → 130
    PHB; prohibitin homologues
    cd13436
    Location:7 → 137
    SPFH_SLP-1; Stomatin-like protein 1 (SLP-1), a subgroup of the stomatin-like proteins (slipins) family; belonging to the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    pfam02036
    Location:216 → 307
    SCP2; SCP-2 sterol transfer family
    cl21455
    Location:179 → 251
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  6. NM_001256677.1 → NP_001243606.1  stomatin-like protein 1 isoform 7

    See identical proteins and their annotated locations for NP_001243606.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) contains an alternate exon in the 5' region, initiates translation at an alternate start codon and uses an alternate in-frame splice site in the coding region, compared to variant 1. the encoded isoform (7) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AF156557, AK300799, AK302051, AL109665
    Consensus CDS
    CCDS58382.1
    UniProtKB/TrEMBL
    Q53HB6
    Related
    ENSP00000319323.6, ENST00000316900.9
    Conserved Domains (4) summary
    smart00244
    Location:35 → 175
    PHB; prohibitin homologues
    cd13436
    Location:52 → 182
    SPFH_SLP-1; Stomatin-like protein 1 (SLP-1), a subgroup of the stomatin-like proteins (slipins) family; belonging to the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    pfam02036
    Location:261 → 352
    SCP2; SCP-2 sterol transfer family
    cl21455
    Location:224 → 296
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  7. NM_001324226.1 → NP_001311155.1  stomatin-like protein 1 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC108137
    Conserved Domains (3) summary
    pfam02036
    Location:147 → 238
    SCP2; SCP-2 sterol transfer family
    cl19107
    Location:1 → 68
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    cl21455
    Location:110 → 182
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  8. NM_001324227.1 → NP_001311156.1  stomatin-like protein 1 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC108137
    Conserved Domains (4) summary
    smart00244
    Location:1 → 130
    PHB; prohibitin homologues
    cd13436
    Location:7 → 137
    SPFH_SLP-1; Stomatin-like protein 1 (SLP-1), a subgroup of the stomatin-like proteins (slipins) family; belonging to the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    pfam02036
    Location:217 → 308
    SCP2; SCP-2 sterol transfer family
    cl21455
    Location:180 → 252
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  9. NM_001324228.2 → NP_001311157.1  stomatin-like protein 1 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC108137
    Conserved Domains (4) summary
    smart00244
    Location:1 → 130
    PHB; prohibitin homologues
    cd13436
    Location:7 → 137
    SPFH_SLP-1; Stomatin-like protein 1 (SLP-1), a subgroup of the stomatin-like proteins (slipins) family; belonging to the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    pfam02036
    Location:217 → 308
    SCP2; SCP-2 sterol transfer family
    cl21455
    Location:180 → 252
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  10. NM_001324229.2 → NP_001311158.1  stomatin-like protein 1 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC108137
    Conserved Domains (2) summary
    pfam02036
    Location:148 → 239
    SCP2; SCP-2 sterol transfer family
    cl19107
    Location:1 → 68
    SPFH_like; core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily

  11. NM_001324230.2 → NP_001311159.1  stomatin-like protein 1 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC108137
    UniProtKB/TrEMBL
    Q53HB6
    Conserved Domains (4) summary
    smart00244
    Location:35 → 175
    PHB; prohibitin homologues
    cd13436
    Location:52 → 182
    SPFH_SLP-1; Stomatin-like protein 1 (SLP-1), a subgroup of the stomatin-like proteins (slipins) family; belonging to the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    pfam02036
    Location:262 → 353
    SCP2; SCP-2 sterol transfer family
    cl21455
    Location:225 → 297
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  12. NM_004809.5 → NP_004800.2  stomatin-like protein 1 isoform 1

    See identical proteins and their annotated locations for NP_004800.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC108137, AF156557, AK302051
    Consensus CDS
    CCDS10254.1
    UniProtKB/Swiss-Prot
    B3KQN0, B4DUU5, B4DXM9, E7ESC0, H3BRP3, O95675, Q4PNR4, Q6FGL8, Q8WYI7, Q9UBI4, Q9UMB9, Q9UMC0, Q9Y6H9
    UniProtKB/TrEMBL
    Q53HB6
    Related
    ENSP00000442478.2, ENST00000541638.6
    Conserved Domains (3) summary
    smart00244
    Location:77 → 217
    PHB; prohibitin homologues
    cd13436
    Location:94 → 224
    SPFH_SLP-1; Stomatin-like protein 1 (SLP-1), a subgroup of the stomatin-like proteins (slipins) family; belonging to the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily
    pfam02036
    Location:304 → 395
    SCP2; SCP-2 sterol transfer family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    73978926..73994622 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    71796271..71811967 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UBI4.1 GenPept UniProtKB/Swiss-Prot:Q9UBI4

Gene LinkOut

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