MYT1L

Protein identityUniProt · HPA

UniProt accession

Q9UL68

Gene

MYT1L

Ensembl

ENSG00000186487

Chromosome

2

Canonical length

1186 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Vesicles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1186 residues, UniProt reviewed canonical sequence.

>Q9UL68|MYT1L
     1  MEVDTEEKRH RTRSKGVRVP VEPAIQELFS CPTPGCDGSG HVSGKYARHR SVYGCPLAKK
    61  RKTQDKQPQE PAPKRKPFAV KADSSSVDEC DDSDGTEDMD EKEEDEGEEY SEDNDEPGDE
   121  DEEDEEGDRE EEEEIEEEDE DDDEDGEDVE DEEEEEEEEE EEEEEEENED HQMNCHNTRI
   181  MQDTEKDDNN NDEYDNYDEL VAKSLLNLGK IAEDAAYRAR TESEMNSNTS NSLEDDSDKN
   241  ENLGRKSELS LDLDSDVVRE TVDSLKLLAQ GHGVVLSENM NDRNYADSMS QQDSRNMNYV
   301  MLGKPMNNGL MEKMVEESDE EVCLSSLECL RNQCFDLARK LSETNPQERN PQQNMNIRQH
   361  VRPEEDFPGR TPDRNYSDML NLMRLEEQLS PRSRVFASCA KEDGCHERDD DTTSVNSDRS
   421  EEVFDMTKGN LTLLEKAIAL ETERAKAMRE KMAMEAGRRD NMRSYEDQSP RQLPGEDRKP
   481  KSSDSHVKKP YYGKDPSRTE KKESKCPTPG CDGTGHVTGL YPHHRSLSGC PHKDRVPPEI
   541  LAMHESVLKC PTPGCTGRGH VNSNRNSHRS LSGCPIAAAE KLAKAQEKHQ SCDVSKSSQA
   601  SDRVLRPMCF VKQLEIPQYG YRNNVPTTTP RSNLAKELEK YSKTSFEYNS YDNHTYGKRA
   661  IAPKVQTRDI SPKGYDDAKR YCKDPSPSSS STSSYAPSSS SNLSCGGGSS ASSTCSKSSF
   721  DYTHDMEAAH MAATAILNLS TRCREMPQNL STKPQDLCAT RNPDMEVDEN GTLDLSMNKQ
   781  RPRDSCCPIL TPLEPMSPQQ QAVMNNRCFQ LGEGDCWDLP VDYTKMKPRR IDEDESKDIT
   841  PEDLDPFQEA LEERRYPGEV TIPSPKPKYP QCKESKKDLI TLSGCPLADK SIRSMLATSS
   901  QELKCPTPGC DGSGHITGNY ASHRSLSGCP RAKKSGIRIA QSKEDKEDQE PIRCPVPGCD
   961  GQGHITGKYA SHRSASGCPL AAKRQKDGYL NGSQFSWKSV KTEGMSCPTP GCDGSGHVSG
  1021  SFLTHRSLSG CPRATSAMKK AKLSGEQMLT IKQRASNGIE NDEEIKQLDE EIKELNESNS
  1081  QMEADMIKLR TQITTMESNL KTIEEENKVI EQQNESLLHE LANLSQSLIH SLANIQLPHM
  1141  DPINEQNFDA YVTTLTEMYT NQDRYQSPEN KALLENIKQA VRGIQV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYT1L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.59

Highest tissue expression

29 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYT1L.

Disease | AllUniProt

Conditions MYT1L is implicated in, by any mechanism.

• Intellectual developmental disorder, autosomal dominant 39 (MRD39) MIM:616521

Disease | GeneticClinVar

112 pathogenic / likely-pathogenic of 619 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual disability, autosomal dominant 39
• Intellectual disability
• Inborn genetic diseases
• Early onset severe obesity
• MYT1L-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.09

gnomAD pLI

1

gnomAD missense Z

4.77

DepMap mean gene effect

-0.1

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• negative regulation of transcription by RNA polymerase II
• nervous system development
• neuron development
• neuron differentiation
• neuron fate commitment
• neuron fate specification
• regulation of transcription by RNA polymerase II

Molecular functions

• cobalt ion binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• retinoic acid-responsive element binding
• transcription coactivator activity
• zinc ion binding
• metal ion sequestering activity

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Zinc finger, C2H2C-type
• Myelin transcription factor 1
• Zinc finger, C2H2C-type superfamily
• Zinc finger, C2HC type
• Myelin transcription factor 1

KeywordsUniProt

• Autism spectrum disorder
• Chromosome
• Coiled coil
• Developmental protein
• Differentiation
• DNA-binding
• Intellectual disability
• Metal-binding
• Neurogenesis
• Nucleus
• Phosphoprotein
• Repeat
• Repressor
• Transcription
• Transcription regulation
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of MYT1L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SIN3B
• LINGO1