STOML1 stomatin like 1 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[review] Stomatin family member STOML1 is oligomeric; it mostly localizes to membrane domains and has been shown to modulate ion channel activity.
Title: Stomatin-domain proteins.
Stomatin-like protein-1 interacts with stomatin and is targeted to late endosomes
Title: Stomatin-like protein-1 interacts with stomatin and is targeted to late endosomes.

Submit: New GeneRIF Correction

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 Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91728 (e-PCR)
- UniSTS:85331

D15S624E (e-PCR)
- UniSTS:39045

G06258 (e-PCR)
- UniSTS:74441

STOML1_8931 (e-PCR)
- UniSTS:467920

A008W10 (e-PCR)
- UniSTS:37844

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)

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
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
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
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
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
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
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
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
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
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
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
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