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    TMEM71 transmembrane protein 71 [ Homo sapiens (human) ]

    Gene ID: 137835, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM71provided by HGNC
    Official Full Name
    transmembrane protein 71provided by HGNC
    Primary source
    HGNC:HGNC:26572
    See related
    Ensembl:ENSG00000165071 MIM:620287; AllianceGenome:HGNC:26572
    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
    Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in heart (RPKM 11.4), bone marrow (RPKM 10.2) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM71 in Genome Data Viewer
    Location:
    8q24.22
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (132705839..132775999, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (133829136..133899185, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (133718085..133788245, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene dynein axonemal assembly factor 11 Neighboring gene Helicobacter pylori responsive 1 Neighboring gene uncharacterized LOC105375767 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:133699646-133700172 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:133787363-133787864 Neighboring gene PHD finger protein 20 like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19559 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:133894667-133895168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:133895169-133895668 Neighboring gene thyroglobulin Neighboring gene uncharacterized LOC105375768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27992 Neighboring gene ribosomal protein L21 pseudogene 78

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Molecular and clinical characterization of TMEM71 expression at the transcriptional level in glioma. Wang KY, et al. CNS Neurosci Ther, 2019 Sep. PMID 31180187, Free PMC Article
    2. Sumoylation of ING2 regulates the transcription mediated by Sin3A. Ythier D, et al. Oncogene, 2010 Nov 4. PMID 20676127
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, 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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular and clinical characterization of TMEM71 expression at the transcriptional level in glioma.
      Title: Molecular and clinical characterization of TMEM71 expression at the transcriptional level in glioma.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ33069, MGC111188

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 71

    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_001145153.2 → NP_001138625.1  transmembrane protein 71 isoform 2

      See identical proteins and their annotated locations for NP_001138625.1

      Status: VALIDATED

      Source sequence(s)
      AF228727, BC062592, BC105783
      Consensus CDS
      CCDS47921.1
      UniProtKB/Swiss-Prot
      Q6P5X7
      Related
      ENSP00000367133.4, ENST00000377901.8
      Conserved Domains (1) summary
      pfam15121
      Location:1 → 152
      TMEM71; TMEM71 protein family

    2. NM_001364885.2 → NP_001351814.1  transmembrane protein 71 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AF228727
      Conserved Domains (1) summary
      pfam15121
      Location:1 → 150
      TMEM71; TMEM71 protein family

    3. NM_001382396.1 → NP_001369325.1  transmembrane protein 71 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AF228727, AF257497
      Conserved Domains (1) summary
      pfam15121
      Location:1 → 150
      TMEM71; TMEM71 protein family

    4. NM_001382397.1 → NP_001369326.1  transmembrane protein 71 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AF228727
      Conserved Domains (1) summary
      pfam15121
      Location:1 → 150
      TMEM71; TMEM71 protein family

    5. NM_001382398.1 → NP_001369327.1  transmembrane protein 71 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AF228727
      Consensus CDS
      CCDS94342.1
      UniProtKB/TrEMBL
      E5RJJ0
      Related
      ENSP00000428228.1, ENST00000523829.5
      Conserved Domains (1) summary
      pfam15121
      Location:1 → 150
      TMEM71; TMEM71 protein family

    6. NM_001382399.1 → NP_001369328.1  transmembrane protein 71 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AF228727
      Conserved Domains (1) summary
      pfam15121
      Location:1 → 152
      TMEM71; TMEM71 protein family

    7. NM_001382400.1 → NP_001369329.1  transmembrane protein 71 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AF228727
      Conserved Domains (1) summary
      pfam15121
      Location:1 → 152
      TMEM71; TMEM71 protein family

    8. NM_001382401.1 → NP_001369330.1  transmembrane protein 71 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AF228727

    9. NM_001382402.1 → NP_001369331.1  transmembrane protein 71 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AF228727
      Conserved Domains (1) summary
      pfam15121
      Location:1 → 150
      TMEM71; TMEM71 protein family

    10. NM_001382403.1 → NP_001369332.1  transmembrane protein 71 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AF228727
      Consensus CDS
      CCDS94343.1
      UniProtKB/Swiss-Prot
      Q3KRC2, Q6P5X7, Q8WVZ4, Q96LX9
      Related
      ENSP00000504388.1, ENST00000677595.1
      Conserved Domains (1) summary
      pfam15121
      Location:1 → 150
      TMEM71; TMEM71 protein family

    11. NM_001382404.1 → NP_001369333.1  transmembrane protein 71 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AF228727
      Consensus CDS
      CCDS94343.1
      UniProtKB/Swiss-Prot
      Q3KRC2, Q6P5X7, Q8WVZ4, Q96LX9
      Conserved Domains (1) summary
      pfam15121
      Location:1 → 150
      TMEM71; TMEM71 protein family

    12. NM_001382405.1 → NP_001369334.1  transmembrane protein 71 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AF228727
      Conserved Domains (1) summary
      pfam15121
      Location:1 → 150
      TMEM71; TMEM71 protein family

    13. NM_144649.3 → NP_653250.2  transmembrane protein 71 isoform 1

      See identical proteins and their annotated locations for NP_653250.2

      Status: VALIDATED

      Source sequence(s)
      AF228727, BC062592, BG505962
      Consensus CDS
      CCDS6366.1
      UniProtKB/Swiss-Prot
      Q6P5X7
      Related
      ENSP00000349296.3, ENST00000356838.7
      Conserved Domains (1) summary
      pfam15121
      Location:1 → 131
      TMEM71; TMEM71 protein family

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      132705839..132775999 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421363.1 → XP_047277319.1  transmembrane protein 71 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      133829136..133899185 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359753.1 → XP_054215728.1  transmembrane protein 71 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P5X7.2 GenPept UniProtKB/Swiss-Prot:Q6P5X7

    Gene LinkOut

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

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