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MID1 midline 1 [ Homo sapiens (human) ]

Gene ID: 4281, updated on 12-Jan-2019

Summary

Official Symbol
MID1provided by HGNC
Official Full Name
midline 1provided by HGNC
Primary source
HGNC:HGNC:7095
See related
Ensembl:ENSG00000101871 MIM:300552
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

Genomic context

See MID1 in Genome Data Viewer
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

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Opitz-Frias syndrome not available

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 

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_001180210.1
NP_001334662.1
NP_150631.1
NP_150632.1

NCBI Reference Sequences (RefSeq)

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
    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, ENST00000380779.5
    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)
  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
    Consensus CDS
    CCDS14138.1
    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 ...
    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
    cl25407
    Location:182306
    ClassIIa_HDAC_Gln-rich-N; Glutamine-rich N-terminal helical domain of various Class IIa histone deacetylases (HDAC4, HDAC5 and HDCA9)
  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, ENST00000380787.5
    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)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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.
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