TMEFF1 transmembrane protein with EGF like and two follistatin like domains 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEFF1provided by HGNC
Official Full Name: transmembrane protein with EGF like and two follistatin like domains 1provided by HGNC
Primary source: HGNC:HGNC:11866
See related: Ensembl:ENSG00000241697 MIM:603421; AllianceGenome:HGNC:11866
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: TR-1; H7365; C9orf2; CT120.1
Summary: Predicted to enable signaling receptor binding activity. Predicted to be involved in animal organ morphogenesis; neuron projection development; and tissue development. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in brain (RPKM 20.3), testis (RPKM 3.9) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q31.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (100473149..100577636)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (112644809..112749338)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (103235431..103339918)

Chromosome 9 - NC_000009.12 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
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?

MIR503HG impeded ovarian cancer progression by interacting with SPI1 and preventing TMEFF1 transcription.
Title: MIR503HG impeded ovarian cancer progression by interacting with SPI1 and preventing TMEFF1 transcription.
Interaction between TMEFF1 and AHNAK proteins in ovarian cancer cells: Implications for clinical prognosis.
Title: Interaction between TMEFF1 and AHNAK proteins in ovarian cancer cells: Implications for clinical prognosis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.
In Xenopus, TMEFF1 blocks nodal signaling through binding to the nodal coreceptor Cripto; it does not associate with either nodal or the type I activin receptor-like kinase (ALK) 4 receptor.
Title: Tomoregulin-1 (TMEFF1) inhibits nodal signaling through direct binding to the nodal coreceptor Cripto.
This protein may behave as a tumor suppressor gene in brain cancers.
Title: TMEFF1 and brain tumors.

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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

RH47356 (e-PCR)
- UniSTS:60458

D9S2032 (e-PCR)
- UniSTS:11051

RH47334 (e-PCR)
- UniSTS:60459

A007J17 (e-PCR)
- UniSTS:67648

SHGC-57676 (e-PCR)
- UniSTS:2960

D9S1857 (e-PCR), detects polymorphism
- UniSTS:15568

TMEFF1_8835 (e-PCR)
- UniSTS:467941

RH121613 (e-PCR)
- UniSTS:134385

Readthrough MSANTD3-TMEFF1

Readthrough gene: MSANTD3-TMEFF1, Included gene: MSANTD3

Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: tomoregulin-1

Names: cancer/testis antigen family 120, member 1; transmembrane protein with EGF-like and one follistatin-like domain

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.