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    TMEM250 transmembrane protein 250 [ Homo sapiens (human) ]

    Gene ID: 90120, updated on 17-Jun-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, Apr 2022]
    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:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136107767..136118875, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (148337230..148348278, complement)
    105.20220307 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 Sharpr-MPRA regulatory region 7357 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:138838500-138839699 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:138842180-138842463 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:138852839-138853339 Neighboring gene UBA domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138860297-138860930 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:138863893-138864078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138865698-138866480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:138881416-138882094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:138882772-138883449 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:138884127-138884804 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:138884805-138885482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138904343-138905133 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 uncharacterized LOC107987142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20499 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 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 LIM homeobox 3 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
    • 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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    NEW Try the new Transcript table

    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_2023_10

    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
      136107767..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_007061370.1 RNA Sequence

    2. XR_007061371.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      148337230..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_008488102.1 RNA Sequence

    2. 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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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