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TMEM51 transmembrane protein 51 [ Homo sapiens (human) ]

Gene ID: 55092, updated on 2-Nov-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 located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in urinary bladder (RPKM 10.5), gall bladder (RPKM 9.1) and 24 other tissues See more
Orthologs
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Genomic context

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See TMEM51 in Genome Data Viewer
Location:
1p36.21
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (15152566..15220478)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (14596611..14664561)
RS_2024_09 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 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. Characterization of the epithelial membrane protein 3 interaction network reveals a potential functional link to mitogenic signal transduction regulation. Christians A, et al. Int J Cancer, 2019 Jul 15. PMID 30614533
  2. Large-scale phosphomimetic screening identifies phospho-modulated motif-based protein interactions. Kliche J, et al. Mol Syst Biol, 2023 Jul 11. PMID 37219487, Free PMC Article
  3. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
  4. A Multipronged Unbiased Strategy Guides the Development of an Anti-EGFR/EPHA2-Bispecific Antibody for Combination Cancer Therapy. El Zawily A, et al. Clin Cancer Res, 2023 Jul 14. PMID 36976175, Free PMC Article
  5. Interrogating the protein interactomes of RAS isoforms identifies PIP5K1A as a KRAS-specific vulnerability. Adhikari H, et al. Nat Commun, 2018 Sep 7. PMID 30194290, Free PMC Article

See all (28) citations in PubMed

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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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_2024_08

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

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