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TMEM71 transmembrane protein 71 [ Homo sapiens (human) ]

Gene ID: 137835, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in heart (RPKM 11.4), bone marrow (RPKM 10.2) and 17 other tissues See more
Orthologs
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Genomic context

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Location:
8q24.22
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (132705839..132775999, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (133829136..133899185, complement)
105.20220307 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: 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. 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)

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

  • FLJ33069, MGC111188

Gene Ontology Provided by GOA

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_2023_10

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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