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TMEM250 transmembrane protein 250 [ Homo sapiens (human) ]

Gene ID: 90120, updated on 2-Nov-2024

Summary

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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

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See TMEM250 in Genome Data Viewer
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_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902307 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:138912910-138913832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138913833-138914753 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138915830-138916368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138916406-138916996 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:138921801-138922013 Neighboring gene NACC family member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:223743486-223744062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138947679-138948279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:138948280-138948879 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:138948880-138949481 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:138966482-138967232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138972585-138973346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:138978791-138979750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138982379-138983071 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:138985151-138985842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20495 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:138995039-138995738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20497 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:138999932-139000544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139001156-139001768 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139001769-139002380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139002381-139002992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139008667-139009242 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139009243-139009818 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20499 Neighboring gene uncharacterized LOC107987142 Neighboring gene long intergenic non-protein coding RNA 2846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139010972-139011548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139011549-139012123 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20501 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139027429-139027969 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:139037051-139037363 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139038646-139039577 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139044229-139044797 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139048359-139048859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139060941-139061592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139061593-139062243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139067483-139068316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139079110-139079610 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139082169-139083115 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139083116-139084061 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139089541-139090232 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139090233-139090922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139100281-139100832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139100833-139101382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139103280-139104056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139107853-139108356 Neighboring gene LIM homeobox 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29302 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:139119971-139121170 Neighboring gene quiescin sulfhydryl oxidase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139131059-139131587 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20502 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20503 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20504

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Host cell protein C9orf69 promotes viral proliferation via interaction with HSV-1 UL25 protein. Zhang Y, et al. Virol Sin, 2011 Jun. PMID 21667337, Free PMC Article
  2. RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation. Wu SF, et al. Proc Natl Acad Sci U S A, 2020 Jun 23. PMID 32513696, Free PMC Article
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cytoskeleton-dependent cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
  
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 
involved_in protein localization IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cell division site IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of septin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in septin ring IBA
Inferred from Biological aspect of Ancestor
more info
  

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)

  1. 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)

  2. 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

  1. 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

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    136114589..136118875 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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)

RNA

  1. XR_007061371.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    148343992..148348278 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054364145.1 → XP_054220120.1  transmembrane protein 250 isoform X1

    UniProtKB/Swiss-Prot
    H0YL14

RNA

  1. XR_008488103.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
H0YL14.2 GenPept UniProtKB/Swiss-Prot:H0YL14

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