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    TMEM51 transmembrane protein 51 [ Homo sapiens (human) ]

    Gene ID: 55092, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TMEM51provided by HGNC
    Official Full Name
    transmembrane protein 51provided by HGNC
    Primary source
    HGNC:HGNC:25488
    See related
    Ensembl:ENSG00000171729 AllianceGenome:HGNC:25488
    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
    C1orf72
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in urinary bladder (RPKM 10.5), gall bladder (RPKM 9.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p36.21
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (15152566..15220478)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (14596611..14664561)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (15479062..15546974)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene kazrin, periplakin interacting protein Neighboring gene uncharacterized LOC124903849 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15249981-15250480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 293 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:15261293-15261469 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:15266300-15266801 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:15270527-15271122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15273767-15274267 Neighboring gene Sharpr-MPRA regulatory region 2794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15294452-15295356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15296544-15297266 Neighboring gene Sharpr-MPRA regulatory region 10909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15347400-15348061 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15348723-15349384 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 230 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:15379147-15379811 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:15379812-15380475 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15386302-15386802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15386803-15387303 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:15390134-15391333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15427206-15427915 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15438360-15438939 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15438940-15439518 Neighboring gene TMEM51 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:15481087-15481748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:15480425-15481086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 296 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_366 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 299 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:15513533-15514104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:15514105-15514677 Neighboring gene TMEM51 antisense RNA 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:15530834-15531389 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 300 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:15573554-15573727 Neighboring gene Sharpr-MPRA regulatory region 5897 Neighboring gene uncharacterized LOC124903853 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:15615395-15616594 Neighboring gene ZBTB2 pseudogene 1 Neighboring gene MFF pseudogene 1 Neighboring gene forkhead associated phosphopeptide binding domain 1

    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. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    Clone Names

    • FLJ10199

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 51

    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_001136216.2 → NP_001129688.1  transmembrane protein 51 isoform 1

      See identical proteins and their annotated locations for NP_001129688.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 through 4 encode the same isoform (1)
      Source sequence(s)
      AL035405, AL391094
      Consensus CDS
      CCDS154.1
      UniProtKB/Swiss-Prot
      A8K819, Q9NW97
      Related
      ENSP00000365182.3, ENST00000376014.7
      Conserved Domains (1) summary
      pfam15345
      Location:7 → 240
      TMEM51; Transmembrane protein 51

    2. NM_001136217.2 → NP_001129689.1  transmembrane protein 51 isoform 1

      See identical proteins and their annotated locations for NP_001129689.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same isoform (1).
      Source sequence(s)
      AL035405, AL391094
      Consensus CDS
      CCDS154.1
      UniProtKB/Swiss-Prot
      A8K819, Q9NW97
      Related
      ENSP00000394899.1, ENST00000428417.5
      Conserved Domains (1) summary
      pfam15345
      Location:7 → 240
      TMEM51; Transmembrane protein 51

    3. NM_001136218.2 → NP_001129690.1  transmembrane protein 51 isoform 1

      See identical proteins and their annotated locations for NP_001129690.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same isoform (1).
      Source sequence(s)
      AL035405, AL391094
      Consensus CDS
      CCDS154.1
      UniProtKB/Swiss-Prot
      A8K819, Q9NW97
      Related
      ENSP00000365176.1, ENST00000376008.3
      Conserved Domains (1) summary
      pfam15345
      Location:7 → 240
      TMEM51; Transmembrane protein 51

    4. NM_001319665.2 → NP_001306594.1  transmembrane protein 51 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, resulting in a frameshift and an early start codon, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL035405, AL391094
      Consensus CDS
      CCDS81266.1
      UniProtKB/TrEMBL
      B1AP03, Q9BSA0
      Related
      ENSP00000409665.2, ENST00000434578.6
      Conserved Domains (1) summary
      pfam15345
      Location:7 → 114
      TMEM51; Transmembrane protein 51

    5. NM_018022.3 → NP_060492.1  transmembrane protein 51 isoform 1

      See identical proteins and their annotated locations for NP_060492.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same isoform (1)
      Source sequence(s)
      AL035405, AL391094
      Consensus CDS
      CCDS154.1
      UniProtKB/Swiss-Prot
      A8K819, Q9NW97
      Related
      ENSP00000383600.2, ENST00000400796.7
      Conserved Domains (1) summary
      pfam15345
      Location:7 → 240
      TMEM51; Transmembrane protein 51

    RNA

    1. NR_135082.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) has multiple differences compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AL035405, AL391094

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      15152566..15220478
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001590.2 → XP_016857079.1  transmembrane protein 51 isoform X1

      UniProtKB/Swiss-Prot
      A8K819, Q9NW97
      Conserved Domains (1) summary
      pfam15345
      Location:7 → 240
      TMEM51; Transmembrane protein 51

    2. XM_011541676.2 → XP_011539978.1  transmembrane protein 51 isoform X1

      See identical proteins and their annotated locations for XP_011539978.1

      UniProtKB/Swiss-Prot
      A8K819, Q9NW97
      Conserved Domains (1) summary
      pfam15345
      Location:7 → 240
      TMEM51; Transmembrane protein 51

    3. XM_005245919.1 → XP_005245976.1  transmembrane protein 51 isoform X1

      See identical proteins and their annotated locations for XP_005245976.1

      UniProtKB/Swiss-Prot
      A8K819, Q9NW97
      Conserved Domains (1) summary
      pfam15345
      Location:7 → 240
      TMEM51; Transmembrane protein 51

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      14596611..14664561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337312.1 → XP_054193287.1  transmembrane protein 51 isoform X1

      UniProtKB/Swiss-Prot
      A8K819, Q9NW97

    2. XM_054337313.1 → XP_054193288.1  transmembrane protein 51 isoform X1

      UniProtKB/Swiss-Prot
      A8K819, Q9NW97

    3. XM_054337311.1 → XP_054193286.1  transmembrane protein 51 isoform X1

      UniProtKB/Swiss-Prot
      A8K819, Q9NW97
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NW97.1 GenPept UniProtKB/Swiss-Prot:Q9NW97

    Gene LinkOut

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

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