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    TMEM80 transmembrane protein 80 [ Homo sapiens (human) ]

    Gene ID: 283232, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMEM80provided by HGNC
    Official Full Name
    transmembrane protein 80provided by HGNC
    Primary source
    HGNC:HGNC:27453
    See related
    Ensembl:ENSG00000177042 MIM:620248; AllianceGenome:HGNC:27453
    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
    Summary
    Predicted to be involved in non-motile cilium assembly. Predicted to be located in cilium and membrane. Predicted to be active in ciliary transition zone. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.9), prostate (RPKM 7.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM80 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (695639..705028)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (746506..756028)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (695639..705028)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:637156-637689 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:637690-638224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:638225-638758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:638759-639293 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:639294-639827 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:640193-640804 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:640805-641416 Neighboring gene Sharpr-MPRA regulatory region 3787 Neighboring gene dopamine receptor D4 Neighboring gene uncharacterized LOC124902603 Neighboring gene DEAF1 transcription factor Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:673917-675116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:676679-677178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:679106-679606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:686586-687086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:687087-687587 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:688565-689488 Neighboring gene hESC enhancers GRCh37_chr11:694659-695198 and GRCh37_chr11:695199-695740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:695741-696280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:696821-697360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:704144-705071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3015 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:706927-707853 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:707854-708781 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:709709-710636 Neighboring gene EPS8 signaling adaptor L2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3017 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3021 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:727187-728092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3022 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:734652-735152 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:735153-735653 Neighboring gene uncharacterized LOC105376509 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:742971-743670 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:743671-744369 Neighboring gene hESC enhancers GRCh37_chr11:746448-747096 and GRCh37_chr11:747097-747745

    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. Basal vertebrates clarify the evolutionary history of ciliopathy-associated genes Tmem138 and Tmem216. Venkatesh B, et al. Mol Biol Evol, 2013 Jan. PMID 22936720, Free PMC Article
    2. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. Li C, et al. PLoS Biol, 2016 Mar. PMID 26982032, Free PMC Article
    3. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. Yachie N, et al. Mol Syst Biol, 2016 Apr 22. PMID 27107012, Free PMC Article
    4. Systematic protein-protein interaction mapping for clinically relevant human GPCRs. Sokolina K, et al. Mol Syst Biol, 2017 Mar 15. PMID 28298427, Free PMC Article
    5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528

    See all (10) 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38216, FLJ55823

    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 non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 80

    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_001042463.3 → NP_001035928.3  transmembrane protein 80 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate 3' terminal exon, compared to variant 5. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 5.
      Source sequence(s)
      AC131934
      Consensus CDS
      CCDS41587.3
      UniProtKB/Swiss-Prot
      A0A0A0MS80, A8MQ01, A8MXY8, B7WNU5, B7Z7W9, Q96HE8
      Related
      ENSP00000380646.4, ENST00000397510.9
      Conserved Domains (1) summary
      pfam09799
      Location:24 → 127
      Transmemb_17; Predicted membrane protein

    2. NM_001276253.2 → NP_001263182.2  transmembrane protein 80 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has multiple differences in the coding region compared to variant 5. It encodes isoform 4, which has a distinct C-terminus and is shorter, compared to isoform 5.
      Source sequence(s)
      AC131934
      Consensus CDS
      CCDS73231.2
      UniProtKB/TrEMBL
      A0A0A0MTU4
      Related
      ENSP00000476563.3, ENST00000608174.6

    3. NM_001276274.2 → NP_001263203.2  transmembrane protein 80 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) represents the longest transcript and encodes the longest isoform (5).
      Source sequence(s)
      AC131934
      Consensus CDS
      CCDS91399.1
      UniProtKB/TrEMBL
      E9PQJ9
      Related
      ENSP00000436199.3, ENST00000526170.6
      Conserved Domains (1) summary
      pfam09799
      Location:24 → 127
      Transmemb_17; Predicted membrane protein

    4. NM_001384408.1 → NP_001371337.1  transmembrane protein 80 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC131934
      Conserved Domains (1) summary
      pfam09799
      Location:41 → 144
      Transmemb_17; Predicted membrane protein

    5. NM_174940.4 → NP_777600.4  transmembrane protein 80 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) has multiple differences in the coding region compared to variant 5. It encodes isoform 1 which is shorter and has a distinct C-terminus, compared to isoform 5.
      Source sequence(s)
      AC131934
      Consensus CDS
      CCDS7711.2
      UniProtKB/TrEMBL
      A0AAA9X375
      Related
      ENSP00000380648.4, ENST00000397512.8
      Conserved Domains (1) summary
      pfam09799
      Location:4 → 107
      Transmemb_17; Predicted membrane protein

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      695639..705028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718206.4 → XP_006718269.4  transmembrane protein 80 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      746506..756028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368533.1 → XP_054224508.1  transmembrane protein 80 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001042464.1: Suppressed sequence

      Description
      NM_001042464.1: This RefSeq was temporarily suppressed because sufficient data to support this transcript currently does not exist.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96HE8.5 GenPept UniProtKB/Swiss-Prot:Q96HE8

    Gene LinkOut

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

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