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    OPALIN oligodendrocytic myelin paranodal and inner loop protein [ Homo sapiens (human) ]

    Gene ID: 93377, updated on 27-Nov-2024

    Summary

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    Official Symbol
    OPALINprovided by HGNC
    Official Full Name
    oligodendrocytic myelin paranodal and inner loop proteinprovided by HGNC
    Primary source
    HGNC:HGNC:20707
    See related
    Ensembl:ENSG00000197430 MIM:617200; AllianceGenome:HGNC:20707
    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
    TMP10; HTMP10; TMEM10
    Summary
    Predicted to be involved in regulation of oligodendrocyte differentiation. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward brain (RPKM 29.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See OPALIN in Genome Data Viewer
    Location:
    10q24.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (96343221..96359002, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (97222521..97238300, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (98102978..98118759, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902487 Neighboring gene B cell linker Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:97995995-97996494 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:98026632-98027831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3826 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:98068473-98069311 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:98069312-98070152 Neighboring gene NANOG hESC enhancer GRCh37_chr10:98084017-98084578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2653 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:98104629-98105395 Neighboring gene DNA nucleotidylexotransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98138703-98139212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:98156871-98157399 Neighboring gene tolloid like 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:98201903-98202541 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:98210491-98210992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98246593-98247092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:98262485-98262985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98265857-98266640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:98271755-98272274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3827 Neighboring gene transmembrane 9 superfamily member 3 Neighboring gene nucleophosmin 1 pseudogene 26

    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. TMEM10 Promotes Oligodendrocyte Differentiation and is Expressed by Oligodendrocytes in Human Remyelinating Multiple Sclerosis Plaques. de Faria O Jr, et al. Sci Rep, 2019 Mar 5. PMID 30837646, Free PMC Article
    2. Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia. Nobile C, et al. Gene, 2002 Jan 9. PMID 11814680
    3. An oligodendrocyte enhancer in a phylogenetically conserved intron region of the mammalian myelin gene Opalin. Aruga J, et al. J Neurochem, 2007 Sep. PMID 17442045
    4. Opalin, a transmembrane sialylglycoprotein located in the central nervous system myelin paranodal loop membrane. Yoshikawa F, et al. J Biol Chem, 2008 Jul 25. PMID 18490449, Free PMC Article
    5. Scanning the human proteome for calmodulin-binding proteins. Shen X, et al. Proc Natl Acad Sci U S A, 2005 Apr 26. PMID 15840729, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM10 Promotes Oligodendrocyte Differentiation and is Expressed by Oligodendrocytes in Human Remyelinating Multiple Sclerosis Plaques.
      Title: TMEM10 Promotes Oligodendrocyte Differentiation and is Expressed by Oligodendrocytes in Human Remyelinating Multiple Sclerosis Plaques.
    2. highly sialylglycosylated Opalin has a role in an intermembranous function of the myelin paranodal loops in the central nervous system
      Title: Opalin, a transmembrane sialylglycoprotein located in the central nervous system myelin paranodal loop membrane.
    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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in regulation of oligodendrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cell-cell contact zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    opalin
    Names
    transmembrane protein 10
    transmembrane protein TMP10

    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_001040102.3 → NP_001035191.1  opalin isoform b

      See identical proteins and their annotated locations for NP_001035191.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AF367761, AL834229, BC033737, DA314221, DA399715
      Consensus CDS
      CCDS41556.1
      UniProtKB/Swiss-Prot
      Q96PE5
      Related
      ENSP00000377449.1, ENST00000393871.5

    2. NM_001040103.3 → NP_001035192.1  opalin isoform c

      See identical proteins and their annotated locations for NP_001035192.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon and uses an alternate start codon compared to variant 1. It encodes isoform c which is shorter and has a distinct N-terminus compared to isoform a. Variants 3, 6, 7 and 8 encode the same isoform (c).
      Source sequence(s)
      AF367761, AK316090, AL834229, BC033737, DA314221
      Consensus CDS
      CCDS44466.1
      UniProtKB/Swiss-Prot
      Q96PE5
      Related
      ENSP00000484599.1, ENST00000611913.4

    3. NM_001284320.2 → NP_001271249.1  opalin isoform d

      See identical proteins and their annotated locations for NP_001271249.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform d), compared to isoform a.
      Source sequence(s)
      AK296562, AL834229, BC033737, DA314221
      Consensus CDS
      CCDS60602.1
      UniProtKB/Swiss-Prot
      Q96PE5
      Related
      ENSP00000398025.2, ENST00000419479.5

    4. NM_001284321.2 → NP_001271250.1  opalin isoform e

      See identical proteins and their annotated locations for NP_001271250.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform e), compared to isoform a.
      Source sequence(s)
      AK296562, AL834229, BC033737, DA291461
      Consensus CDS
      CCDS73173.1
      UniProtKB/TrEMBL
      A0A0A0MS47
      Related
      ENSP00000377448.3, ENST00000393870.3

    5. NM_001284322.2 → NP_001271251.1  opalin isoform c

      See identical proteins and their annotated locations for NP_001271251.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) contains an alternate exon and uses an alternate start codon compared to variant 1. It encodes isoform c which is shorter and has a distinct N-terminus compared to isoform a. Variants 3, 6, 7 and 8 encode the same isoform (c).
      Source sequence(s)
      AK296562, AL834229, BC033737, HY120079
      Consensus CDS
      CCDS44466.1
      UniProtKB/Swiss-Prot
      Q96PE5

    6. NM_001284323.2 → NP_001271252.1  opalin isoform c

      See identical proteins and their annotated locations for NP_001271252.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) contains two alternate exons and uses an alternate start codon compared to variant 1. It encodes isoform c which is shorter and has a distinct N-terminus compared to isoform a. Variants 3, 6, 7 and 8 encode the same isoform (c).
      Source sequence(s)
      AK296562, AL834229, BC033737, DA232955
      Consensus CDS
      CCDS44466.1
      UniProtKB/Swiss-Prot
      Q96PE5

    7. NM_001284324.2 → NP_001271253.1  opalin isoform c

      See identical proteins and their annotated locations for NP_001271253.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) contains two alternate exons and uses an alternate start codon compared to variant 1. It encodes isoform c which is shorter and has a distinct N-terminus compared to isoform a. Variants 3, 6, 7 and 8 encode the same isoform (c).
      Source sequence(s)
      AK296462, AK296562, AL834229, BC033737
      Consensus CDS
      CCDS44466.1
      UniProtKB/Swiss-Prot
      Q96PE5

    8. NM_001284326.2 → NP_001271255.1  opalin isoform f

      See identical proteins and their annotated locations for NP_001271255.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) uses an alternate 5' terminal exon and uses a downstream start codon compared to variant 1. It encodes isoform f which has a shorter N-terminus compared to isoform a. Variants 9 and 10 encode the same isoform (f).
      Source sequence(s)
      AK296562, AL834229, BC033737, BP349325, DA232955
      Consensus CDS
      CCDS73172.1
      UniProtKB/TrEMBL
      A0A0A0MTN4
      Related
      ENSP00000445125.2, ENST00000536387.5

    9. NM_001284327.2 → NP_001271256.1  opalin isoform f

      See identical proteins and their annotated locations for NP_001271256.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) uses an alternate 5' terminal exon and uses a downstream start codon compared to variant 1. It encodes isoform f which has a shorter N-terminus compared to isoform a. Variants 9 and 10 encode the same isoform (f).
      Source sequence(s)
      AK296562, AL834229, BC033737, CK023662
      Consensus CDS
      CCDS73172.1
      UniProtKB/TrEMBL
      A0A0A0MTN4

    10. NM_033207.5 → NP_149984.1  opalin isoform a

      See identical proteins and their annotated locations for NP_149984.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AF367761, AL834229, BC033737, DA314221
      Consensus CDS
      CCDS7448.1
      UniProtKB/Swiss-Prot
      A8MX69, A8MYG4, B4DK96, B4DKH0, Q5W102, Q96PE5
      Related
      ENSP00000360214.3, ENST00000371172.8

    RNA

    1. NR_104296.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) uses alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK296562, AL136181, AL834229, BC033737, DA351452, HY120079

    2. NR_104297.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) uses alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK296562, AL834229, BC033737, DA314221, DA399407

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      96343221..96359002 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      97222521..97238300 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PE5.1 GenPept UniProtKB/Swiss-Prot:Q96PE5

    Gene LinkOut

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

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