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    TMEM95 transmembrane protein 95 [ Homo sapiens (human) ]

    Gene ID: 339168, updated on 27-Dec-2024

    Summary

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    Official Symbol
    TMEM95provided by HGNC
    Official Full Name
    transmembrane protein 95provided by HGNC
    Primary source
    HGNC:HGNC:27898
    See related
    Ensembl:ENSG00000182896 MIM:617814; AllianceGenome:HGNC:27898
    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
    UNQ9390
    Summary
    Involved in fusion of sperm to egg plasma membrane involved in single fertilization. Predicted to be located in cytoplasmic vesicle and sperm plasma membrane. Predicted to be active in acrosomal membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 4.1), thyroid (RPKM 3.1) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM95 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7355156..7357219)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7259147..7261210)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7258475..7260538)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7239291-7240052 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7240053-7240814 Neighboring gene ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8111 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8113 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7258016-7258542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7258543-7259069 Neighboring gene potassium channel tetramerization domain containing 11 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:7269638-7269860 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7283926-7284426 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8114 Neighboring gene tyrosine kinase non receptor 1 Neighboring gene TMEM256-PLSCR3 readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8115 Neighboring gene phospholipid scramblase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11618 Neighboring gene transmembrane protein 256

    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. Human sperm TMEM95 binds eggs and facilitates membrane fusion. Tang S, et al. Proc Natl Acad Sci U S A, 2022 Oct 4. PMID 36161911, Free PMC Article
    2. TMEM95 is a sperm membrane protein essential for mammalian fertilization. Lamas-Toranzo I, et al. Elife, 2020 Jun 2. PMID 32484434, Free PMC Article
    3. A nonsense mutation in TMEM95 encoding a nondescript transmembrane protein causes idiopathic male subfertility in cattle. Pausch H, et al. PLoS Genet, 2014 Jan. PMID 24391514, Free PMC Article
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human sperm TMEM95 binds eggs and facilitates membrane fusion.
      Title: Human sperm TMEM95 binds eggs and facilitates membrane fusion.
    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

    • MGC129793

    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 fusion of sperm to egg plasma membrane involved in single fertilization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fusion of sperm to egg plasma membrane involved in single fertilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fusion of sperm to egg plasma membrane involved in single fertilization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in acrosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in acrosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sperm plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sperm-egg fusion protein TMEM95

    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_001320435.2 → NP_001307364.1  sperm-egg fusion protein TMEM95 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AY358218, BC040900
      Consensus CDS
      CCDS82052.1
      UniProtKB/Swiss-Prot
      Q3KNT9
      Related
      ENSP00000374632.4, ENST00000389982.8
      Conserved Domains (1) summary
      pfam15203
      Location:17 → 138
      TMEM95; TMEM95 family

    2. NM_001320436.2 → NP_001307365.1  sperm-egg fusion protein TMEM95 isoform 3 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AC026954, BC107110
      Consensus CDS
      CCDS82051.1
      UniProtKB/Swiss-Prot
      B7WPI7, Q3KNT9, Q6UXT3, Q8IW68
      Related
      ENSP00000460828.1, ENST00000576060.6
      Conserved Domains (1) summary
      pfam15203
      Location:17 → 154
      TMEM95; TMEM95 family

    3. NM_198154.3 → NP_937797.1  sperm-egg fusion protein TMEM95 isoform 2 precursor

      See identical proteins and their annotated locations for NP_937797.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC026954
      Consensus CDS
      CCDS32546.1
      UniProtKB/Swiss-Prot
      Q3KNT9
      Related
      ENSP00000331466.4, ENST00000330767.4
      Conserved Domains (1) summary
      pfam15203
      Location:17 → 162
      TMEM95; TMEM95 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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7355156..7357219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024571.2 → XP_016880060.1  sperm-egg fusion protein TMEM95 isoform X1

    2. XM_017024565.2 → XP_016880054.1  sperm-egg fusion protein TMEM95 isoform X2

    3. XM_017024566.2 → XP_016880055.1  sperm-egg fusion protein TMEM95 isoform X3

    4. XM_017024567.2 → XP_016880056.1  sperm-egg fusion protein TMEM95 isoform X4

    5. XM_017024568.2 → XP_016880057.1  sperm-egg fusion protein TMEM95 isoform X5

      UniProtKB/Swiss-Prot
      B7WPI7, Q3KNT9, Q6UXT3, Q8IW68
      Conserved Domains (1) summary
      pfam15203
      Location:17 → 154
      TMEM95; TMEM95 family

    6. XM_017024569.2 → XP_016880058.1  sperm-egg fusion protein TMEM95 isoform X5

      UniProtKB/Swiss-Prot
      B7WPI7, Q3KNT9, Q6UXT3, Q8IW68
      Conserved Domains (1) summary
      pfam15203
      Location:17 → 154
      TMEM95; TMEM95 family

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160020.1 Reference GRCh38.p14 PATCHES

      Range
      113521..115584
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332654.1 → XP_054188629.1  sperm-egg fusion protein TMEM95 isoform X1

    2. XM_054332655.1 → XP_054188630.1  sperm-egg fusion protein TMEM95 isoform X2

    3. XM_054332656.1 → XP_054188631.1  sperm-egg fusion protein TMEM95 isoform X3

    4. XM_054332657.1 → XP_054188632.1  sperm-egg fusion protein TMEM95 isoform X4

    5. XM_054332659.1 → XP_054188634.1  sperm-egg fusion protein TMEM95 isoform X5

      UniProtKB/Swiss-Prot
      B7WPI7, Q3KNT9, Q6UXT3, Q8IW68

    6. XM_054332658.1 → XP_054188633.1  sperm-egg fusion protein TMEM95 isoform X5

      UniProtKB/Swiss-Prot
      B7WPI7, Q3KNT9, Q6UXT3, Q8IW68

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7259147..7261210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315929.1 → XP_054171904.1  sperm-egg fusion protein TMEM95 isoform X1

    2. XM_054315930.1 → XP_054171905.1  sperm-egg fusion protein TMEM95 isoform X2

    3. XM_054315931.1 → XP_054171906.1  sperm-egg fusion protein TMEM95 isoform X3

    4. XM_054315932.1 → XP_054171907.1  sperm-egg fusion protein TMEM95 isoform X4

    5. XM_054315934.1 → XP_054171909.1  sperm-egg fusion protein TMEM95 isoform X5

      UniProtKB/Swiss-Prot
      B7WPI7, Q3KNT9, Q6UXT3, Q8IW68

    6. XM_054315933.1 → XP_054171908.1  sperm-egg fusion protein TMEM95 isoform X5

      UniProtKB/Swiss-Prot
      B7WPI7, Q3KNT9, Q6UXT3, Q8IW68
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3KNT9.1 GenPept UniProtKB/Swiss-Prot:Q3KNT9

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