TMEM250 transmembrane protein 250 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM250provided by HGNC
Official Full Name: transmembrane protein 250provided by HGNC
Primary source: HGNC:HGNC:31009
See related: Ensembl:ENSG00000238227 AllianceGenome:HGNC:31009
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: C9orf69
Summary: Predicted to enable GTPase activity and molecular adaptor activity. Involved in positive regulation of cell population proliferation and positive regulation of viral process. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in colon (RPKM 10.3), skin (RPKM 7.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (136114589..136118875, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (148343992..148348278, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (139006435..139010721, complement)

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 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?

This study examined host cell protein C9orf69, which promotes viral proliferation via interaction with HSV-1 UL25 protein.
Title: Host cell protein C9orf69 promotes viral proliferation via interaction with HSV-1 UL25 protein.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of viral process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transmembrane protein 250

Names: herpes virus UL25-binding protein; protein C9orf69

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_001256526.2 → NP_001243455.1 transmembrane protein 250

See identical proteins and their annotated locations for NP_001243455.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AL138781

Consensus CDS

CCDS59155.1

UniProtKB/Swiss-Prot

H0YL14

Related

ENSP00000452750.2, ENST00000561457.2

Conserved Domains (1) summary

pfam17685
Location:1 → 139

DUF5533; Family of unknown function (DUF5533)
NM_152833.3 → NP_690046.3 transmembrane protein 250

See identical proteins and their annotated locations for NP_690046.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) is the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

BC014304, DA685158

Consensus CDS

CCDS59155.1

UniProtKB/Swiss-Prot

H0YL14

Related

ENSP00000453019.1, ENST00000418388.6

Conserved Domains (1) summary

pfam17685
Location:1 → 139

DUF5533; Family of unknown function (DUF5533)

RNA

NR_134506.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL138781, BC021231, BC092490, DA203953

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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

136114589..136118875 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024447712.2 → XP_024303480.1 transmembrane protein 250 isoform X1

UniProtKB/Swiss-Prot

H0YL14

Conserved Domains (1) summary

pfam17685
Location:1 → 139

DUF5533; Family of unknown function (DUF5533)