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    TMEM104 transmembrane protein 104 [ Homo sapiens (human) ]

    Gene ID: 54868, updated on 6-Jun-2024

    Summary

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    Official Symbol
    TMEM104provided by HGNC
    Official Full Name
    transmembrane protein 104provided by HGNC
    Primary source
    HGNC:HGNC:25984
    See related
    Ensembl:ENSG00000109066 AllianceGenome:HGNC:25984
    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
    SLC38A12
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 2.7), thyroid (RPKM 2.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM104 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74776499..74839753)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75668389..75731527)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72772638..72835892)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SLC9A3R1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8939 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72745205-72745830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72747322-72747863 Neighboring gene microRNA 3615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72753485-72754231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72754232-72754979 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72754980-72755726 Neighboring gene NHERF family PDZ scaffold protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72755727-72756474 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72759127-72759878 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12719 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8941 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:72779452-72779972 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:72779973-72780491 Neighboring gene N-acetyltransferase 9 (putative) Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:72781052-72781552 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72808337-72809052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72824331-72824831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72827400-72828320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8944 Neighboring gene glutamate ionotropic receptor NMDA type subunit 2C Neighboring gene ReSE screen-validated silencer GRCh37_chr17:72850908-72851103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72856835-72857533 Neighboring gene Sharpr-MPRA regulatory region 86 Neighboring gene ferredoxin reductase

    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. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    2. Defining the human deubiquitinating enzyme interaction landscape. Sowa ME, et al. Cell, 2009 Jul 23. PMID 19615732, Free PMC Article
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Olsen JV, et al. Cell, 2006 Nov 3. PMID 17081983
    4. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Clone Names

    • FLJ00021, FLJ20255

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 104

    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_001321264.3 → NP_001308193.1  transmembrane protein 104 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK000262, CN479614, DN999695
      Consensus CDS
      CCDS82201.1
      UniProtKB/Swiss-Prot
      Q8NE00
      Related
      ENSP00000463205.1, ENST00000582773.5

    2. NM_017728.4 → NP_060198.3  transmembrane protein 104 isoform 1

      See identical proteins and their annotated locations for NP_060198.3

      Status: VALIDATED

      Source sequence(s)
      AC068874, AK074029, CN479614, DN999695
      Consensus CDS
      CCDS32723.1
      UniProtKB/Swiss-Prot
      Q8NE00, Q8TEU1, Q9NT56, Q9NXH1
      UniProtKB/TrEMBL
      A8K544
      Related
      ENSP00000334849.5, ENST00000335464.10
      Conserved Domains (1) summary
      cl00456
      Location:209 → 443
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      74776499..74839753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721963.3 → XP_006722026.1  transmembrane protein 104 isoform X1

      UniProtKB/TrEMBL
      A8K544
      Conserved Domains (1) summary
      cl00456
      Location:208 → 442
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    2. XM_047436329.1 → XP_047292285.1  transmembrane protein 104 isoform X4

    3. XM_017024799.3 → XP_016880288.1  transmembrane protein 104 isoform X5

    4. XM_017024798.3 → XP_016880287.1  transmembrane protein 104 isoform X3

    5. XM_017024797.2 → XP_016880286.1  transmembrane protein 104 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      75668389..75731527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316567.1 → XP_054172542.1  transmembrane protein 104 isoform X1

      UniProtKB/TrEMBL
      A8K544

    2. XM_054316570.1 → XP_054172545.1  transmembrane protein 104 isoform X4

    3. XM_054316571.1 → XP_054172546.1  transmembrane protein 104 isoform X5

    4. XM_054316569.1 → XP_054172544.1  transmembrane protein 104 isoform X3

    5. XM_054316568.1 → XP_054172543.1  transmembrane protein 104 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NE00.2 GenPept UniProtKB/Swiss-Prot:Q8NE00

    Gene LinkOut

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

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