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    STOML1 stomatin like 1 [ Homo sapiens (human) ]

    Gene ID: 9399, updated on 14-Nov-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 cellular response to leukemia inhibitory factor. Predicted to be located in cytoplasmic vesicle. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 7.6), thyroid (RPKM 3.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See STOML1 in Genome Data Viewer
    Location:
    15q24.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (73978926..73994622, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (71796271..71811967, complement)
    RS_2024_09 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 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. 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
    2. 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
    3. 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
    4. 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
    5. Stomatin-domain proteins. Lapatsina L, et al. Eur J Cell Biol, 2012 Apr. PMID 21501885

    See all (19) 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)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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