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    MID1 midline 1 [ Homo sapiens (human) ]

    Gene ID: 4281, updated on 14-Apr-2018
    Official Symbol
    MID1provided by HGNC
    Official Full Name
    midline 1provided by HGNC
    Primary source
    HGNC:HGNC:7095
    See related
    Ensembl:ENSG00000101871 MIM:300552; Vega:OTTHUMG00000021127
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OS; FXY; OSX; OGS1; XPRF; BBBG1; GBBB1; MIDIN; RNF59; ZNFXY; TRIM18
    Summary
    The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
    Expression
    Ubiquitous expression in prostate (RPKM 2.5), urinary bladder (RPKM 2.3) and 24 other tissues See more
    Orthologs
    Location:
    Xp22.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (10445310..10833690, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (10413350..10851829, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene WWC family member 3 Neighboring gene chloride voltage-gated channel 4 Neighboring gene MID1 promoter D Neighboring gene RNA, U6 small nuclear 800, pseudogene Neighboring gene uncharacterized LOC107985627 Neighboring gene Rho GTPase activating protein 6 Neighboring gene holocytochrome c synthase

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-05-17)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-17)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
    NHGRI GWA Catalog
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Interferon Signaling, organism-specific biosystem (from REACTOME)
      Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
    • Interferon gamma signaling, organism-specific biosystem (from REACTOME)
      Interferon gamma signaling, organism-specific biosystemInterferon-gamma (IFN-gamma) belongs to the type II interferon family and is secreted by activated immune cells-primarily T and NK cells, but also B-cells and APC. INFG exerts its effect on cells by ...
    • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
      Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
      Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ57031, FLJ58683, FLJ76288

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    microtubule binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phosphoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    colocalizes_with cytoplasmic microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule associated complex TAS
    Traceable Author Statement
    more info
    PubMed 
    spindle IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    E3 ubiquitin-protein ligase Midline-1
    Names
    Opitz/BBB syndrome
    RING finger protein 59
    RING finger protein Midline-1
    RING-type E3 ubiquitin transferase Midline-1
    midline 1 RING finger protein
    putative transcription factor XPRF
    tripartite motif protein TRIM18
    tripartite motif-containing protein 18
    zinc finger on X and Y, mouse, homolog of
    NP_000372.1
    NP_001092094.1
    NP_001180206.1
    NP_001180207.1
    NP_001180208.1
    NP_001180209.1
    NP_001180210.1
    NP_001334662.1
    NP_150631.1
    NP_150632.1

    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.

    Genomic

    1. NG_008197.1 RefSeqGene

      Range
      5001..393381
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000381.3NP_000372.1  E3 ubiquitin-protein ligase Midline-1 isoform 1

      See identical proteins and their annotated locations for NP_000372.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as alpha) is the longest transcript. Variants 1-4 and variant 10 encode the same isoform (1).
      Source sequence(s)
      BC053626, DC309977, EF217426
      Consensus CDS
      CCDS14138.1
      UniProtKB/Swiss-Prot
      O15344
      UniProtKB/TrEMBL
      A0A024RBV4
      Related
      ENSP00000312678.4, ENST00000317552.8
      Conserved Domains (5) summary
      smart00336
      Location:171212
      BBOX; B-Box-type zinc finger
      cd00063
      Location:381481
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12892
      Location:485661
      SPRY_PRY_TRIM18; PRY/SPRY domain of TRIM18/MID1, also known as FXY or RNF59
      cd16753
      Location:861
      RING-HC_MID1; RING finger, HC subclass, found in midline-1 (MID1) and similar proteins
      cl25407
      Location:219344
      ClassIIa_HDAC_Gln-rich-N; Glutamine-rich N-terminal helical domain of various Class IIa histone deacetylases (HDAC4, HDAC5 and HDCA9)
    2. NM_001098624.2NP_001092094.1  E3 ubiquitin-protein ligase Midline-1 isoform 1

      See identical proteins and their annotated locations for NP_001092094.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate 5' UTR exon, as compared to variant 1. Variants 1-4 and variant 10 encode the same isoform (1).
      Source sequence(s)
      BC053626, DC369426, EF217426
      Consensus CDS
      CCDS14138.1
      UniProtKB/Swiss-Prot
      O15344
      UniProtKB/TrEMBL
      A0A024RBV4
      Related
      ENSP00000414521.2, ENST00000453318.6
      Conserved Domains (5) summary
      smart00336
      Location:171212
      BBOX; B-Box-type zinc finger
      cd00063
      Location:381481
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12892
      Location:485661
      SPRY_PRY_TRIM18; PRY/SPRY domain of TRIM18/MID1, also known as FXY or RNF59
      cd16753
      Location:861
      RING-HC_MID1; RING finger, HC subclass, found in midline-1 (MID1) and similar proteins
      cl25407
      Location:219344
      ClassIIa_HDAC_Gln-rich-N; Glutamine-rich N-terminal helical domain of various Class IIa histone deacetylases (HDAC4, HDAC5 and HDCA9)
    3. NM_001193277.1NP_001180206.1  E3 ubiquitin-protein ligase Midline-1 isoform 1

      See identical proteins and their annotated locations for NP_001180206.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR exon, as compared to variant 1. Variants 1-4 and variant 10 encode the same isoform (1).
      Source sequence(s)
      AF035360, DA435613, EF217426
      Consensus CDS
      CCDS14138.1
      UniProtKB/Swiss-Prot
      O15344
      UniProtKB/TrEMBL
      A0A024RBV4
      Related
      ENSP00000370156.1, OTTHUMP00000022898, ENST00000380779.5, OTTHUMT00000055736
      Conserved Domains (5) summary
      smart00336
      Location:171212
      BBOX; B-Box-type zinc finger
      cd00063
      Location:381481
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12892
      Location:485661
      SPRY_PRY_TRIM18; PRY/SPRY domain of TRIM18/MID1, also known as FXY or RNF59
      cd16753
      Location:861
      RING-HC_MID1; RING finger, HC subclass, found in midline-1 (MID1) and similar proteins
      cl25407
      Location:219344
      ClassIIa_HDAC_Gln-rich-N; Glutamine-rich N-terminal helical domain of various Class IIa histone deacetylases (HDAC4, HDAC5 and HDCA9)
    4. NM_001193278.1NP_001180207.1  E3 ubiquitin-protein ligase Midline-1 isoform 3

      See identical proteins and their annotated locations for NP_001180207.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has an additional in-frame exon in the CDS and also lacks several 3' exons but has an alternate 3' segment, as compared to variant 1. The resulting isoform (3) has an additional segment in the middle region and has a shorter and different C-terminus, as compared to isoform 1.
      Source sequence(s)
      AF035360, AI371111, AY539994
      Consensus CDS
      CCDS75952.1
      UniProtKB/Swiss-Prot
      O15344
      UniProtKB/TrEMBL
      A0A087X255
      Related
      ENSP00000484712.1, ENST00000616003.4
      Conserved Domains (3) summary
      smart00336
      Location:171212
      BBOX; B-Box-type zinc finger
      cd00162
      Location:963
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cl23765
      Location:303395
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
    5. NM_001193279.1NP_001180208.1  E3 ubiquitin-protein ligase Midline-1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks several 3' exons but has an alternate 3' segment, as compared to variant 1. The resulting isoform (4) has a shorter and different C-terminus, as compared to isoform 1.
      Source sequence(s)
      AF035360, AI371111, AY540022
      UniProtKB/Swiss-Prot
      O15344
      Conserved Domains (3) summary
      smart00336
      Location:171212
      BBOX; B-Box-type zinc finger
      cd00162
      Location:963
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cl23765
      Location:219344
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
    6. NM_001193280.1NP_001180209.1  E3 ubiquitin-protein ligase Midline-1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) has an alternate splice site in the CDS and also lacks several 3' exons but has an alternate 3' segment, as compared to variant 1. The resulting isoform (5) lacks an internal segment in the N-terminal region and has a shorter and different C-terminus, as compared to isoform 1.
      Source sequence(s)
      AF035360, AI371111, AY540023
      UniProtKB/Swiss-Prot
      O15344
      Conserved Domains (3) summary
      smart00336
      Location:114152
      BBOX; B-Box-type zinc finger
      cd00162
      Location:963
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cl23765
      Location:182306
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
    7. NM_001193281.1NP_001180210.1  E3 ubiquitin-protein ligase Midline-1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) has an alternate splice site in the CDS and also lacks multiple 3' exons but has an alternate 3' exon, as compared to variant 1. The resulting isoform (6) lacks an internal segment in the N-terminal region and has a shorter and different C-terminus, as compared to isoform 1.
      Source sequence(s)
      AF035360, AY539988
      Consensus CDS
      CCDS75953.1
      UniProtKB/Swiss-Prot
      O15344
      UniProtKB/TrEMBL
      A0A087X0X0
      Related
      ENSP00000483707.1, ENST00000610939.1
      Conserved Domains (1) summary
      cd00162
      Location:963
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    8. NM_001347733.1NP_001334662.1  E3 ubiquitin-protein ligase Midline-1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) has an alternate 5' UTR exon, as compared to variant 1. Variants 1-4 and variant 10 encode the same isoform (1). This variant represents use of an alternate long terminal repeat (LTR) promoter and exon sequence, and results in placenta expression. (PMID: 12411602)
      Source sequence(s)
      AC008008, AC117406
      UniProtKB/Swiss-Prot
      O15344
      UniProtKB/TrEMBL
      A0A024RBV4
      Related
      ENSP00000370157.1, ENST00000380780.5
      Conserved Domains (5) summary
      smart00336
      Location:171212
      BBOX; B-Box-type zinc finger
      cd00063
      Location:381481
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12892
      Location:485661
      SPRY_PRY_TRIM18; PRY/SPRY domain of TRIM18/MID1, also known as FXY or RNF59
      cd16753
      Location:861
      RING-HC_MID1; RING finger, HC subclass, found in midline-1 (MID1) and similar proteins
      cl25407
      Location:219344
      ClassIIa_HDAC_Gln-rich-N; Glutamine-rich N-terminal helical domain of various Class IIa histone deacetylases (HDAC4, HDAC5 and HDCA9)
    9. NM_033289.1NP_150631.1  E3 ubiquitin-protein ligase Midline-1 isoform 2

      See identical proteins and their annotated locations for NP_150631.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an alternate splice site in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal segment in the N-terminal region, as compared to the isoform 1.
      Source sequence(s)
      AK226104, DC309977, EF217426
      Conserved Domains (5) summary
      smart00336
      Location:114160
      BBOX; B-Box-type zinc finger
      cd00063
      Location:343443
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00162
      Location:963
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cd12892
      Location:447623
      SPRY_PRY_TRIM18; PRY/SPRY domain of TRIM18/MID1, also known as FXY or RNF59
      cl23765
      Location:182306
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
    10. NM_033290.3NP_150632.1  E3 ubiquitin-protein ligase Midline-1 isoform 1

      See identical proteins and their annotated locations for NP_150632.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' UTR exon, as compared to variant 1. Variants 1-4 and variant 10 encode the same isoform (1). Expression was found to be adipose specific.
      Source sequence(s)
      AF041210, DA856308, EF217426
      Consensus CDS
      CCDS14138.1
      UniProtKB/Swiss-Prot
      O15344
      UniProtKB/TrEMBL
      A0A024RBV4
      Related
      ENSP00000370164.1, OTTHUMP00000022900, ENST00000380787.5, OTTHUMT00000055738
      Conserved Domains (5) summary
      smart00336
      Location:171212
      BBOX; B-Box-type zinc finger
      cd00063
      Location:381481
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12892
      Location:485661
      SPRY_PRY_TRIM18; PRY/SPRY domain of TRIM18/MID1, also known as FXY or RNF59
      cd16753
      Location:861
      RING-HC_MID1; RING finger, HC subclass, found in midline-1 (MID1) and similar proteins
      cl25407
      Location:219344
      ClassIIa_HDAC_Gln-rich-N; Glutamine-rich N-terminal helical domain of various Class IIa histone deacetylases (HDAC4, HDAC5 and HDCA9)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      10445310..10833690 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_033291.1: Suppressed sequence

      Description
      NM_033291.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Support Center