TOM1L1 target of myb1 like 1 membrane trafficking protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: TOM1L1provided by HGNC
Official Full Name: target of myb1 like 1 membrane trafficking proteinprovided by HGNC
Primary source: HGNC:HGNC:11983
See related: Ensembl:ENSG00000141198 MIM:604701; AllianceGenome:HGNC:11983
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: SRCASM
Summary: Enables clathrin binding activity and protein kinase binding activity. Involved in negative regulation of mitotic nuclear division; positive regulation of protein phosphorylation; and signal transduction. Located in cytosol and endosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in duodenum (RPKM 37.8), thyroid (RPKM 25.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q22

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (54900852..54961956)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (55774353..55836874)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (52978213..53039317)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fyn and TOM1L1 are recruited to clathrin-coated pits and regulate Akt signaling.
Title: Fyn and TOM1L1 are recruited to clathrin-coated pits and regulate Akt signaling.
TOM1L1 enhances ERBB2-induced cell invasiveness by promoting invadopodia formation and MT1-MMP trafficking to the plasma membrane.
Title: TOM1L1 drives membrane delivery of MT1-MMP to promote ERBB2-induced breast cancer cell invasion.
whereas TOM1L1 depletion only slightly affected SRC-induced proliferation of colorectal cancer cells in vitro, it drastically decreased tumor growth in xenografted nude mice.
Title: Analysis of SRC oncogenic signaling in colorectal cancer by stable isotope labeling with heavy amino acids in mouse xenografts.
This pattern of Srcasm expression suggests that it may act as a negative regulator in esophageal squamous cell carcinoma cell signaling
Title: Decreased Srcasm expression in esophageal squamous cell carcinoma in a Chinese population.
results imply that TOM1L has a mitogenic effect in Jurkat T-cells and is involved in a novel cell signaling pathway that is crucial for the IL-2 production and STAT3 expression
Title: TOM1L is involved in a novel signaling pathway important for the IL-2 production in Jurkat T cells stimulated by CD3/CD28 co-ligation.
Participation of Tom1L1 in EGF-stimulated endocytosis of EGF receptor.
Title: Participation of Tom1L1 in EGF-stimulated endocytosis of EGF receptor.
All multicentric and nodular basal cell carcinomas displayed a prominent loss of Srcasm staining in association with a marked increase in Ki-67 staining.
Title: Decreased Srcasm expression in hyperproliferative cutaneous lesions.
study found that not only the PTAP sequence in the GAT domain but also the PSAP sequence in the C-terminal region of Tom1L1 is responsible for its interaction with the UEV domain of Tsg101 and competes with the HIV-1 Gag protein for the Tsg101 interaction
Title: Recruitment of Tom1L1/Srcasm to endosomes and the midbody by Tsg101.
Tom1L1 could act as an intermediary between signaling and degradative pathways.
Title: Interactions of TOM1L1 with the multivesicular body sorting machinery.
Srcasm plays a role in linking EGF receptor- and SFK-dependent signaling to differentiation in keratinocytes
Title: Srcasm modulates EGF and Src-kinase signaling in keratinocytes.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	The PTAP sequence (179-182) in the GAT domain and the PSAP sequence (310-313) in the C-terminal region of Tom1L1 are required for its interaction with the UEV domain (1-145) of Tsg101 and competes with HIV-1 Gag	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91952 (e-PCR)
- UniSTS:92744

WI-16135 (e-PCR)
- UniSTS:59472

RH39342 (e-PCR)
- UniSTS:89192

RH26130 (e-PCR)
- UniSTS:88259

RH78591 (e-PCR)
- UniSTS:57322

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables clathrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables clathrin binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activator activity	IEA Inferred from Electronic Annotation more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of mitotic nuclear division	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
NOT involved_in regulation of DNA biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi stack	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in lysosome	TAS Traceable Author Statement more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: TOM1-like protein 1

Names: src-activating and signaling molecule protein; target of Myb-like protein 1

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_001321173.2 → NP_001308102.1 TOM1-like protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AB065085, BC029396, BX110664, DC362418

Consensus CDS

CCDS82160.1

UniProtKB/Swiss-Prot

O75674

UniProtKB/TrEMBL

Q8NI65

Related

ENSP00000458918.1, ENST00000575333.5

Conserved Domains (2) summary

cd03565
Location:14 → 154

VHS_Tom1; VHS domain family, Tom1 subfamily; The VHS domain is an essential part of Tom1 (Target of myb1 - retroviral oncogene) protein. The VHS domain has a superhelical structure similar to the structure of the ARM repeats and is present at the very N-termini of ...

cd14237
Location:199 → 290

GAT_TM1L1; GAT domain found in target of Myb-like protein 1 (Tom1L1)
NM_001321174.2 → NP_001308103.1 TOM1-like protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AK315907, CB241257, DC362418

Consensus CDS

CCDS82161.1

UniProtKB/TrEMBL

B4E1M9

Related

ENSP00000443099.1, ENST00000536554.5

Conserved Domains (2) summary

cd14237
Location:122 → 213

GAT_TM1L1; GAT domain found in target of Myb-like protein 1 (Tom1L1)

cl02544
Location:1 → 77

VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily; composed of proteins containing a VHS, ENTH or ANTH domain. The VHS domain is present in Vps27 (Vacuolar Protein Sorting), Hrs (Hepatocyte growth factor-regulated tyrosine kinase substrate) and STAM (Signal ...
NM_001321175.2 → NP_001308104.1 TOM1-like protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC007485, AC090824, AW044673

Consensus CDS

CCDS82161.1

UniProtKB/TrEMBL

B4E1M9

Conserved Domains (2) summary

cd14237
Location:122 → 213

GAT_TM1L1; GAT domain found in target of Myb-like protein 1 (Tom1L1)

cl02544
Location:1 → 77

VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily; composed of proteins containing a VHS, ENTH or ANTH domain. The VHS domain is present in Vps27 (Vacuolar Protein Sorting), Hrs (Hepatocyte growth factor-regulated tyrosine kinase substrate) and STAM (Signal ...
NM_001321176.2 → NP_001308105.1 TOM1-like protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC007485, AC090824, AW044673, DC362418

Consensus CDS

CCDS82161.1

UniProtKB/TrEMBL

B4E1M9

Conserved Domains (2) summary

cd14237
Location:122 → 213

GAT_TM1L1; GAT domain found in target of Myb-like protein 1 (Tom1L1)

cl02544
Location:1 → 77

VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily; composed of proteins containing a VHS, ENTH or ANTH domain. The VHS domain is present in Vps27 (Vacuolar Protein Sorting), Hrs (Hepatocyte growth factor-regulated tyrosine kinase substrate) and STAM (Signal ...
NM_005486.3 → NP_005477.2 TOM1-like protein 1 isoform 1

See identical proteins and their annotated locations for NP_005477.2

Status: VALIDATED

Source sequence(s)

AJ010071, AK223125, AK315039, AW139144, CN284148

Consensus CDS

CCDS11582.1

UniProtKB/Swiss-Prot

B7Z9E2, O75674, Q53G06, Q8N749

UniProtKB/TrEMBL

I3L4I4

Related

ENSP00000460823.1, ENST00000575882.6

Conserved Domains (2) summary

cd03565
Location:14 → 154

VHS_Tom1; VHS domain family, Tom1 subfamily; The VHS domain is an essential part of Tom1 (Target of myb1 - retroviral oncogene) protein. The VHS domain has a superhelical structure similar to the structure of the ARM repeats and is present at the very N-termini of ...

cd14237
Location:199 → 290

GAT_TM1L1; GAT domain found in target of Myb-like protein 1 (Tom1L1)