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    MID1 midline 1 [ Homo sapiens (human) ]

    Gene ID: 4281, updated on 7-Apr-2024

    Summary

    Official Symbol
    MID1provided by HGNC
    Official Full Name
    midline 1provided by HGNC
    Primary source
    HGNC:HGNC:7095
    See related
    Ensembl:ENSG00000101871 MIM:300552; AllianceGenome:HGNC:7095
    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; GBBB; 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
    NEW
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    Genomic context

    See MID1 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (10445310..10833683, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (10027869..10416213, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (10413350..10851802, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:10008750-10009284 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:10009285-10009817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:10014897-10015530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:10015531-10016163 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:10018119-10018742 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:10050926-10051426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29407 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:10077459-10078176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:10078177-10078894 Neighboring gene Sharpr-MPRA regulatory region 7563 Neighboring gene WWC family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:10141885-10142861 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20656 Neighboring gene chloride voltage-gated channel 4 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:10416979-10418178 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:10476778-10477647 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:10539598-10539816 Neighboring gene MID1 promoter D Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:10579147-10580022 Neighboring gene uncharacterized LOC124905245 Neighboring gene RNA, U6 small nuclear 800, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:10602208-10603407 Neighboring gene Sharpr-MPRA regulatory region 5514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20657 Neighboring gene uncharacterized LOC124905244 Neighboring gene Sharpr-MPRA regulatory region 6238 Neighboring gene HCCS divergent transcript Neighboring gene uncharacterized LOC124905243

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    X-linked Opitz G/BBB syndrome Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-08-23)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-08-23)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ57031, FLJ58683, FLJ76288

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables microtubule binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables phosphoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with cytoplasmic microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of microtubule associated complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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_001334662.1
    NP_150631.1
    NP_150632.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008197.2 RefSeqGene

      Range
      218106..393135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000381.4NP_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
      B2RCG2, O15344, O75361, Q9BZX5
      UniProtKB/TrEMBL
      A8K5A0
      Related
      ENSP00000312678.4, ENST00000317552.9
      Conserved Domains (7) summary
      smart00502
      Location:219344
      BBC; B-Box C-terminal domain
      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
      cd19822
      Location:168214
      Bbox2_MID1_C-I; B-box-type 2 zinc finger found in midline-1 (MID1) and similar proteins
      cd19836
      Location:115164
      Bbox1_MID1_C-I; B-box-type 1 zinc finger found in midline-1 (MID1) and similar proteins
      pfam18568
      Location:323374
      COS; TRIM C-terminal subgroup One Signature domain
    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
      B2RCG2, O15344, O75361, Q9BZX5
      UniProtKB/TrEMBL
      A8K5A0
      Related
      ENSP00000414521.2, ENST00000453318.6
      Conserved Domains (7) summary
      smart00502
      Location:219344
      BBC; B-Box C-terminal domain
      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
      cd19822
      Location:168214
      Bbox2_MID1_C-I; B-box-type 2 zinc finger found in midline-1 (MID1) and similar proteins
      cd19836
      Location:115164
      Bbox1_MID1_C-I; B-box-type 1 zinc finger found in midline-1 (MID1) and similar proteins
      pfam18568
      Location:323374
      COS; TRIM C-terminal subgroup One Signature domain
    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
      B2RCG2, O15344, O75361, Q9BZX5
      UniProtKB/TrEMBL
      A8K5A0
      Related
      ENSP00000370156.1, ENST00000380779.5
      Conserved Domains (7) summary
      smart00502
      Location:219344
      BBC; B-Box C-terminal domain
      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
      cd19822
      Location:168214
      Bbox2_MID1_C-I; B-box-type 2 zinc finger found in midline-1 (MID1) and similar proteins
      cd19836
      Location:115164
      Bbox1_MID1_C-I; B-box-type 1 zinc finger found in midline-1 (MID1) and similar proteins
      pfam18568
      Location:323374
      COS; TRIM C-terminal subgroup One Signature domain
    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/TrEMBL
      A0A087X255
      Related
      ENSP00000484712.1, ENST00000616003.5
      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
      Consensus CDS
      CCDS94548.1
      UniProtKB/TrEMBL
      A0A8I5KPE0, C9J453
      Related
      ENSP00000508734.1, ENST00000687008.1
      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/TrEMBL
      B7Z5K6
      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_001347733.2NP_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
      Consensus CDS
      CCDS14138.1
      UniProtKB/Swiss-Prot
      B2RCG2, O15344, O75361, Q9BZX5
      UniProtKB/TrEMBL
      A8K5A0
      Related
      ENSP00000370157.1, ENST00000380780.5
      Conserved Domains (7) summary
      smart00502
      Location:219344
      BBC; B-Box C-terminal domain
      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
      cd19822
      Location:168214
      Bbox2_MID1_C-I; B-box-type 2 zinc finger found in midline-1 (MID1) and similar proteins
      cd19836
      Location:115164
      Bbox1_MID1_C-I; B-box-type 1 zinc finger found in midline-1 (MID1) and similar proteins
      pfam18568
      Location:323374
      COS; TRIM C-terminal subgroup One Signature domain
    8. NM_033289.2NP_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
      Consensus CDS
      CCDS94549.1
      UniProtKB/TrEMBL
      A0A8I5KR14, B4DLX8
      Related
      ENSP00000509730.1, ENST00000690004.1
      Conserved Domains (6) summary
      smart00502
      Location:182306
      BBC; B-Box C-terminal domain
      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 ...
      cd12892
      Location:447623
      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
      cd19836
      Location:115164
      Bbox1_MID1_C-I; B-box-type 1 zinc finger found in midline-1 (MID1) and similar proteins
      pfam18568
      Location:285336
      COS; TRIM C-terminal subgroup One Signature domain
    9. NM_033290.4NP_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
      B2RCG2, O15344, O75361, Q9BZX5
      UniProtKB/TrEMBL
      A8K5A0
      Related
      ENSP00000370164.1, ENST00000380787.5
      Conserved Domains (7) summary
      smart00502
      Location:219344
      BBC; B-Box C-terminal domain
      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
      cd19822
      Location:168214
      Bbox2_MID1_C-I; B-box-type 2 zinc finger found in midline-1 (MID1) and similar proteins
      cd19836
      Location:115164
      Bbox1_MID1_C-I; B-box-type 1 zinc finger found in midline-1 (MID1) and similar proteins
      pfam18568
      Location:323374
      COS; TRIM C-terminal subgroup One Signature domain

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      10445310..10833683 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      10027869..10416213 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001193281.1: Suppressed sequence

      Description
      NM_001193281.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    2. 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.