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MYT1L myelin transcription factor 1 like [ Homo sapiens (human) ]

Gene ID: 23040, updated on 12-Oct-2019

Summary

Official Symbol
MYT1Lprovided by HGNC
Official Full Name
myelin transcription factor 1 likeprovided by HGNC
Primary source
HGNC:HGNC:7623
See related
Ensembl:ENSG00000186487 MIM:613084
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
NZF1; MRD39; myT1-L; ZC2H2C2; ZC2HC4B
Summary
This gene encodes a member of the zinc finger superfamily of transcription factors whose expression, thus far, has been found only in neuronal tissues. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. Mutations in this gene have been associated with an autosomal dominant form of cognitive disability and with autism spectrum disorder. Alternative splicing results in multiple variants. [provided by RefSeq, Jul 2017]
Expression
Biased expression in brain (RPKM 9.8) and testis (RPKM 1.0) See more
Orthologs

Genomic context

See MYT1L in Genome Data Viewer
Location:
2p25.3
Exon count:
34
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (1789113..2331388, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (1792885..2335147, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene adhesive plaque matrix protein-like Neighboring gene peroxidasin Neighboring gene uncharacterized LOC107985838 Neighboring gene MYT1L antisense RNA 1 Neighboring gene uncharacterized LOC105373389 Neighboring gene uncharacterized LOC107985839

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
Mental retardation, autosomal dominant 39
MedGen: C4225296 OMIM: 616521 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2017-03-09)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2017-03-09)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.
NHGRI GWA Catalog
Genome-wide meta-analysis for severe diabetic retinopathy.
NHGRI GWA Catalog
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron development ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron fate specification ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
myelin transcription factor 1-like protein
Names
neural zinc finger transcription factor 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_051313.1 RefSeqGene

    Range
    5114..547276
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001303052.2NP_001289981.1  myelin transcription factor 1-like protein isoform 1

    See identical proteins and their annotated locations for NP_001289981.1

    Status: REVIEWED

    Source sequence(s)
    AC011301, AF036943, BC042833, BC137272, BC150281, DA248951
    Consensus CDS
    CCDS77378.1
    UniProtKB/Swiss-Prot
    Q9UL68
    Related
    ENSP00000497479.1, ENST00000647738.1
    Conserved Domains (3) summary
    pfam01530
    Location:904930
    zf-C2HC; Zinc finger, C2HC type
    pfam08474
    Location:621872
    MYT1; Myelin transcription factor 1
    pfam10267
    Location:10561128
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  2. NM_001329844.2NP_001316773.1  myelin transcription factor 1-like protein isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC008276, AC009232, AC009471, AC011301, AC093390, BC042833
    Consensus CDS
    CCDS77378.1
    UniProtKB/Swiss-Prot
    Q9UL68
    Related
    ENSP00000396103.3, ENST00000428368.7
    Conserved Domains (3) summary
    pfam01530
    Location:904930
    zf-C2HC; Zinc finger, C2HC type
    pfam08474
    Location:621872
    MYT1; Myelin transcription factor 1
    pfam10267
    Location:10561128
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  3. NM_001329845.1NP_001316774.1  myelin transcription factor 1-like protein isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC008276, AC009232, AC009471, AC011301, AC093390, BC042833
    Consensus CDS
    CCDS77378.1
    UniProtKB/Swiss-Prot
    Q9UL68
    Related
    ENSP00000497722.1, ENST00000647694.1
    Conserved Domains (3) summary
    pfam01530
    Location:904930
    zf-C2HC; Zinc finger, C2HC type
    pfam08474
    Location:621872
    MYT1; Myelin transcription factor 1
    pfam10267
    Location:10561128
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  4. NM_001329846.2NP_001316775.1  myelin transcription factor 1-like protein isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC008276, AC009232, AC009471, AC011301, AC093390, BC042833
    Related
    ENSP00000496922.1, ENST00000647755.1
  5. NM_001329847.2NP_001316776.1  myelin transcription factor 1-like protein isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC008276, AC009232, AC009471, AC011301, AC093390, BC042833
    Consensus CDS
    CCDS46222.1
    UniProtKB/Swiss-Prot
    Q9UL68
    Related
    ENSP00000497017.1, ENST00000648928.1
    Conserved Domains (3) summary
    pfam01530
    Location:902928
    zf-C2HC; Zinc finger, C2HC type
    pfam08474
    Location:619870
    MYT1; Myelin transcription factor 1
    pfam10267
    Location:10541126
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  6. NM_001329848.1NP_001316777.1  myelin transcription factor 1-like protein isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC008276, AC009232, AC009471, AC011301, AC093390, BC042833
    Consensus CDS
    CCDS46222.1
    UniProtKB/Swiss-Prot
    Q9UL68
    Related
    ENSP00000496986.1, ENST00000649207.1
    Conserved Domains (3) summary
    pfam01530
    Location:902928
    zf-C2HC; Zinc finger, C2HC type
    pfam08474
    Location:619870
    MYT1; Myelin transcription factor 1
    pfam10267
    Location:10541126
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  7. NM_001329849.2NP_001316778.1  myelin transcription factor 1-like protein isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC008276, AC009232, AC009471, AC011301, AC093390, BC042833
    Related
    ENSP00000497115.1, ENST00000648665.1
  8. NM_001329851.2NP_001316780.1  myelin transcription factor 1-like protein isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC008276, AC009232, AC009471, AC011301, AC093390, BC042833
    Related
    ENSP00000497273.1, ENST00000649663.1
  9. NM_001329852.2NP_001316781.1  myelin transcription factor 1-like protein isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC008276, AC009232, AC009471, AC011301, AC093390, BC042833
    Related
    ENSP00000496831.1, ENST00000648318.1
  10. NM_015025.4NP_055840.2  myelin transcription factor 1-like protein isoform 2

    See identical proteins and their annotated locations for NP_055840.2

    Status: REVIEWED

    Source sequence(s)
    AC011301, BC042833, BC137272, BC150281, DA248951
    Consensus CDS
    CCDS46222.1
    UniProtKB/Swiss-Prot
    Q9UL68
    Related
    ENSP00000382114.3, ENST00000399161.7
    Conserved Domains (3) summary
    pfam01530
    Location:902928
    zf-C2HC; Zinc finger, C2HC type
    pfam08474
    Location:619870
    MYT1; Myelin transcription factor 1
    pfam10267
    Location:10541126
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    1789113..2331388 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003604.1XP_016859093.1  myelin transcription factor 1-like protein isoform X1

    Conserved Domains (3) summary
    pfam01530
    Location:925951
    zf-C2HC; Zinc finger, C2HC type
    pfam05087
    Location:10751141
    Rota_VP2; Rotavirus VP2 protein
    pfam08474
    Location:621872
    MYT1; Myelin transcription factor 1
  2. XM_017003611.1XP_016859100.1  myelin transcription factor 1-like protein isoform X6

    Related
    ENSP00000497068.1, ENST00000650485.1
  3. XM_011510325.1XP_011508627.1  myelin transcription factor 1-like protein isoform X3

    Conserved Domains (3) summary
    pfam01530
    Location:923949
    zf-C2HC; Zinc finger, C2HC type
    pfam05087
    Location:10731139
    Rota_VP2; Rotavirus VP2 protein
    pfam08474
    Location:619870
    MYT1; Myelin transcription factor 1
  4. XM_017003615.1XP_016859104.1  myelin transcription factor 1-like protein isoform X9

  5. XM_011510326.1XP_011508628.1  myelin transcription factor 1-like protein isoform X5

    Conserved Domains (3) summary
    pfam01530
    Location:904930
    zf-C2HC; Zinc finger, C2HC type
    pfam05087
    Location:10541120
    Rota_VP2; Rotavirus VP2 protein
    pfam08474
    Location:621872
    MYT1; Myelin transcription factor 1
  6. XM_011510327.1XP_011508629.1  myelin transcription factor 1-like protein isoform X7

    Conserved Domains (3) summary
    pfam01530
    Location:925951
    zf-C2HC; Zinc finger, C2HC type
    pfam05087
    Location:10751141
    Rota_VP2; Rotavirus VP2 protein
    pfam08474
    Location:621872
    MYT1; Myelin transcription factor 1
  7. XM_011510318.1XP_011508620.1  myelin transcription factor 1-like protein isoform X1

    See identical proteins and their annotated locations for XP_011508620.1

    Conserved Domains (3) summary
    pfam01530
    Location:925951
    zf-C2HC; Zinc finger, C2HC type
    pfam05087
    Location:10751141
    Rota_VP2; Rotavirus VP2 protein
    pfam08474
    Location:621872
    MYT1; Myelin transcription factor 1
  8. XM_017003612.1XP_016859101.1  myelin transcription factor 1-like protein isoform X6

  9. XM_017003606.1XP_016859095.1  myelin transcription factor 1-like protein isoform X3

    Conserved Domains (3) summary
    pfam01530
    Location:923949
    zf-C2HC; Zinc finger, C2HC type
    pfam05087
    Location:10731139
    Rota_VP2; Rotavirus VP2 protein
    pfam08474
    Location:619870
    MYT1; Myelin transcription factor 1
  10. XM_011510319.1XP_011508621.1  myelin transcription factor 1-like protein isoform X1

    See identical proteins and their annotated locations for XP_011508621.1

    Conserved Domains (3) summary
    pfam01530
    Location:925951
    zf-C2HC; Zinc finger, C2HC type
    pfam05087
    Location:10751141
    Rota_VP2; Rotavirus VP2 protein
    pfam08474
    Location:621872
    MYT1; Myelin transcription factor 1
  11. XM_011510322.2XP_011508624.1  myelin transcription factor 1-like protein isoform X1

    See identical proteins and their annotated locations for XP_011508624.1

    Conserved Domains (3) summary
    pfam01530
    Location:925951
    zf-C2HC; Zinc finger, C2HC type
    pfam05087
    Location:10751141
    Rota_VP2; Rotavirus VP2 protein
    pfam08474
    Location:621872
    MYT1; Myelin transcription factor 1
  12. XM_017003607.2XP_016859096.1  myelin transcription factor 1-like protein isoform X3

    Conserved Domains (3) summary
    pfam01530
    Location:923949
    zf-C2HC; Zinc finger, C2HC type
    pfam05087
    Location:10731139
    Rota_VP2; Rotavirus VP2 protein
    pfam08474
    Location:619870
    MYT1; Myelin transcription factor 1
  13. XM_011510320.3XP_011508622.1  myelin transcription factor 1-like protein isoform X1

    See identical proteins and their annotated locations for XP_011508622.1

    Conserved Domains (3) summary
    pfam01530
    Location:925951
    zf-C2HC; Zinc finger, C2HC type
    pfam05087
    Location:10751141
    Rota_VP2; Rotavirus VP2 protein
    pfam08474
    Location:621872
    MYT1; Myelin transcription factor 1
  14. XM_017003605.1XP_016859094.1  myelin transcription factor 1-like protein isoform X1

    Conserved Domains (3) summary
    pfam01530
    Location:925951
    zf-C2HC; Zinc finger, C2HC type
    pfam05087
    Location:10751141
    Rota_VP2; Rotavirus VP2 protein
    pfam08474
    Location:621872
    MYT1; Myelin transcription factor 1
  15. XM_011510321.2XP_011508623.1  myelin transcription factor 1-like protein isoform X1

    See identical proteins and their annotated locations for XP_011508623.1

    Conserved Domains (3) summary
    pfam01530
    Location:925951
    zf-C2HC; Zinc finger, C2HC type
    pfam05087
    Location:10751141
    Rota_VP2; Rotavirus VP2 protein
    pfam08474
    Location:621872
    MYT1; Myelin transcription factor 1
  16. XM_011510323.1XP_011508625.1  myelin transcription factor 1-like protein isoform X1

    See identical proteins and their annotated locations for XP_011508625.1

    Conserved Domains (3) summary
    pfam01530
    Location:925951
    zf-C2HC; Zinc finger, C2HC type
    pfam05087
    Location:10751141
    Rota_VP2; Rotavirus VP2 protein
    pfam08474
    Location:621872
    MYT1; Myelin transcription factor 1
  17. XM_017003620.1XP_016859109.1  myelin transcription factor 1-like protein isoform X12

    Conserved Domains (3) summary
    pfam01530
    Location:827853
    zf-C2HC; Zinc finger, C2HC type
    pfam05087
    Location:9771043
    Rota_VP2; Rotavirus VP2 protein
    pfam08474
    Location:523774
    MYT1; Myelin transcription factor 1
  18. XM_017003618.1XP_016859107.1  myelin transcription factor 1-like protein isoform X11

  19. XM_017003616.1XP_016859105.1  myelin transcription factor 1-like protein isoform X10

  20. XM_011510328.2XP_011508630.1  myelin transcription factor 1-like protein isoform X8

    Conserved Domains (3) summary
    pfam01530
    Location:925951
    zf-C2HC; Zinc finger, C2HC type
    pfam08474
    Location:621872
    MYT1; Myelin transcription factor 1
    pfam10267
    Location:10771149
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  21. XM_011510324.2XP_011508626.1  myelin transcription factor 1-like protein isoform X2

    Related
    ENSP00000496210.1, ENST00000644820.1
    Conserved Domains (3) summary
    pfam01530
    Location:925951
    zf-C2HC; Zinc finger, C2HC type
    pfam08474
    Location:621872
    MYT1; Myelin transcription factor 1
    pfam10267
    Location:10771149
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  22. XM_017003608.1XP_016859097.1  myelin transcription factor 1-like protein isoform X4

  23. XM_011510332.2XP_011508634.1  myelin transcription factor 1-like protein isoform X15

    Conserved Domains (2) summary
    pfam01530
    Location:3056
    zf-C2HC; Zinc finger, C2HC type
    pfam08474
    Location:621872
    MYT1; Myelin transcription factor 1
  24. XM_017003622.1XP_016859111.1  myelin transcription factor 1-like protein isoform X16

    Related
    ENSP00000498096.1, ENST00000649810.1
  25. XM_011510331.2XP_011508633.1  myelin transcription factor 1-like protein isoform X13

    Conserved Domains (2) summary
    pfam01530
    Location:882907
    zf-C2HC; Zinc finger, C2HC type
    pfam08474
    Location:621872
    MYT1; Myelin transcription factor 1
  26. XM_017003621.1XP_016859110.1  myelin transcription factor 1-like protein isoform X14

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