MSANTD3-TMEFF1 MSANTD3-TMEFF1 readthrough [Homo sapiens (human)] - Gene

Summary

Official Symbol: MSANTD3-TMEFF1provided by HGNC
Official Full Name: MSANTD3-TMEFF1 readthroughprovided by HGNC
Primary source: HGNC:HGNC:38838
See related: AllianceGenome:HGNC:38838
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; TMEFF1; C9orf3-TMEFF1; C9orf30-TMEFF1
Summary: This locus represents naturally occurring read-through transcription from the neighboring MSANTD3 (Myb/SANT-like DNA-binding domain containing 3) and TMEFF1 (transmembrane protein with EGF-like and two follistatin-like domains 1) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Aug 2013]
Expression: Broad expression in brain (RPKM 22.5), endometrium (RPKM 5.6) and 19 other tissues See more
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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 (100441906..100577636)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (112613574..112749338)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (103204188..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?

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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

RH47356 (e-PCR)
- UniSTS:60458

RH47334 (e-PCR)
- UniSTS:60459

A007J17 (e-PCR)
- UniSTS:67648

TMEFF1_8835 (e-PCR)
- UniSTS:467941

RH48042 (e-PCR)
- UniSTS:74480

General protein information

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Preferred Names: MSANTD3-TMEFF1 fusion protein

Names: C9orf30-TMEFF1 readthrough; Tomoregulin-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.

mRNA and Protein(s)

NM_001198812.1 → NP_001185741.1 MSANTD3-TMEFF1 fusion protein

Status: VALIDATED

Source sequence(s)

AL353805, AL831919

UniProtKB/Swiss-Prot

Q8IYR6

Conserved Domains (3) summary

PHA02887
Location:349 → 385

PHA02887; EGF-like protein; Provisional

smart00280
Location:173 → 217

KAZAL; Kazal type serine protease inhibitors

pfam13873
Location:9 → 83

Myb_DNA-bind_5; Myb/SANT-like DNA-binding domain