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UniProtKB - Q9UL68 (MYT1L_HUMAN)

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Protein

Myelin transcription factor 1-like protein

Gene

MYT1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Transcription factor that plays a key role in neuronal differentiation by specifically repressing expression of non-neuronal genes during neuron differentiation. In contrast to other transcription repressors that inhibit specific lineages, mediates repression of multiple differentiation programs. Also represses expression of negative regulators of neurogenesis, such as members of the Notch signaling pathway, including HES1. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Directly binds the 5'-AAGTT-3' core motif present on the promoter of target genes and represses transcription by recruiting a multiprotein complex containing SIN3B. The 5'-AAGTT-3' core motif is absent from the promoter of neural genes.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri22 – 65CCHHC-type 1PROSITE-ProRule annotationAdd BLAST44
Zinc fingeri497 – 540CCHHC-type 2PROSITE-ProRule annotationAdd BLAST44
Zinc fingeri541 – 584CCHHC-type 3PROSITE-ProRule annotationAdd BLAST44
Zinc fingeri896 – 939CCHHC-type 4PROSITE-ProRule annotationAdd BLAST44
Zinc fingeri945 – 988CCHHC-type 5PROSITE-ProRule annotationAdd BLAST44
Zinc fingeri998 – 1041CCHHC-type 6PROSITE-ProRule annotationAdd BLAST44

GO - Molecular functioni

Complete GO annotation...

GO - Biological processi

Complete GO annotation...

Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Myelin transcription factor 1-like protein1 Publication
Short name:
MyT1-L1 Publication
Short name:
MyT1L1 Publication
Gene namesi
Name:MYT1L1 PublicationImported
Synonyms:KIAA11061 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:7623. MYT1L.

Subcellular locationi

  • Nucleus By similarity
  • Chromosome By similarity

    • Note: Preferentially binds to DNA binding sites that are in an open chromatin configuration.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 39 (MRD39)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD39 patients show delayed psychomotor development and autistic features.
See also OMIM:616521

Keywords - Diseasei

Autism spectrum disorder, Mental retardation

Organism-specific databases

DisGeNETi23040.
MalaCardsiMYT1L.
MIMi616521. phenotype.
OpenTargetsiENSG00000186487.
PharmGKBiPA31427.

Polymorphism and mutation databases

BioMutaiMYT1L.
DMDMi327478568.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000966731 – 1186Myelin transcription factor 1-like proteinAdd BLAST1186

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei250PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9UL68.
PeptideAtlasiQ9UL68.
PRIDEiQ9UL68.

PTM databases

iPTMnetiQ9UL68.
PhosphoSitePlusiQ9UL68.

Expressioni

Gene expression databases

BgeeiENSG00000186487.
CleanExiHS_MYT1L.
ExpressionAtlasiQ9UL68. baseline and differential.
GenevisibleiQ9UL68. HS.

Interactioni

Subunit structurei

Interacts with SIN3B.By similarity

Protein-protein interaction databases

BioGridi116679. 3 interactors.
IntActiQ9UL68. 5 interactors.
STRINGi9606.ENSP00000396103.

Structurei

3D structure databases

ProteinModelPortaliQ9UL68.
SMRiQ9UL68.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1056 – 1130Sequence analysisAdd BLAST75

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi97 – 169Asp/Glu-richAdd BLAST73
Compositional biasi686 – 719Ser-richAdd BLAST34

Sequence similaritiesi

Belongs to the MYT1 family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri22 – 65CCHHC-type 1PROSITE-ProRule annotationAdd BLAST44
Zinc fingeri497 – 540CCHHC-type 2PROSITE-ProRule annotationAdd BLAST44
Zinc fingeri541 – 584CCHHC-type 3PROSITE-ProRule annotationAdd BLAST44
Zinc fingeri896 – 939CCHHC-type 4PROSITE-ProRule annotationAdd BLAST44
Zinc fingeri945 – 988CCHHC-type 5PROSITE-ProRule annotationAdd BLAST44
Zinc fingeri998 – 1041CCHHC-type 6PROSITE-ProRule annotationAdd BLAST44

Keywords - Domaini

Coiled coil, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG3803. Eukaryota.
ENOG410ZPWS. LUCA.
GeneTreeiENSGT00440000038465.
HOGENOMiHOG000234099.
HOVERGENiHBG006433.
InParanoidiQ9UL68.
OMAiPYYGKDP.
OrthoDBiEOG091G0135.
PhylomeDBiQ9UL68.
TreeFamiTF317299.

Family and domain databases

InterProiView protein in InterPro
IPR013681. Myelin_TF.
IPR002515. Znf_C2HC.
PfamiView protein in Pfam
PF08474. MYT1. 1 hit.
PF01530. zf-C2HC. 6 hits.
SUPFAMiSSF103637. SSF103637. 6 hits.
PROSITEiView protein in PROSITE
PS51802. ZF_CCHHC. 6 hits.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UL68-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEVDTEEKRH RTRSKGVRVP VEPAIQELFS CPTPGCDGSG HVSGKYARHR 
        60         70         80         90        100
SVYGCPLAKK RKTQDKQPQE PAPKRKPFAV KADSSSVDEC DDSDGTEDMD 
       110        120        130        140        150
EKEEDEGEEY SEDNDEPGDE DEEDEEGDRE EEEEIEEEDE DDDEDGEDVE 
       160        170        180        190        200
DEEEEEEEEE EEEEEEENED HQMNCHNTRI MQDTEKDDNN NDEYDNYDEL 
       210        220        230        240        250
VAKSLLNLGK IAEDAAYRAR TESEMNSNTS NSLEDDSDKN ENLGRKSELS 
       260        270        280        290        300
LDLDSDVVRE TVDSLKLLAQ GHGVVLSENM NDRNYADSMS QQDSRNMNYV 
       310        320        330        340        350
MLGKPMNNGL MEKMVEESDE EVCLSSLECL RNQCFDLARK LSETNPQERN 
       360        370        380        390        400
PQQNMNIRQH VRPEEDFPGR TPDRNYSDML NLMRLEEQLS PRSRVFASCA 
       410        420        430        440        450
KEDGCHERDD DTTSVNSDRS EEVFDMTKGN LTLLEKAIAL ETERAKAMRE 
       460        470        480        490        500
KMAMEAGRRD NMRSYEDQSP RQLPGEDRKP KSSDSHVKKP YYGKDPSRTE 
       510        520        530        540        550
KKESKCPTPG CDGTGHVTGL YPHHRSLSGC PHKDRVPPEI LAMHESVLKC 
       560        570        580        590        600
PTPGCTGRGH VNSNRNSHRS LSGCPIAAAE KLAKAQEKHQ SCDVSKSSQA 
       610        620        630        640        650
SDRVLRPMCF VKQLEIPQYG YRNNVPTTTP RSNLAKELEK YSKTSFEYNS 
       660        670        680        690        700
YDNHTYGKRA IAPKVQTRDI SPKGYDDAKR YCKDPSPSSS STSSYAPSSS 
       710        720        730        740        750
SNLSCGGGSS ASSTCSKSSF DYTHDMEAAH MAATAILNLS TRCREMPQNL 
       760        770        780        790        800
STKPQDLCAT RNPDMEVDEN GTLDLSMNKQ RPRDSCCPIL TPLEPMSPQQ 
       810        820        830        840        850
QAVMNNRCFQ LGEGDCWDLP VDYTKMKPRR IDEDESKDIT PEDLDPFQEA 
       860        870        880        890        900
LEERRYPGEV TIPSPKPKYP QCKESKKDLI TLSGCPLADK SIRSMLATSS 
       910        920        930        940        950
QELKCPTPGC DGSGHITGNY ASHRSLSGCP RAKKSGIRIA QSKEDKEDQE 
       960        970        980        990       1000
PIRCPVPGCD GQGHITGKYA SHRSASGCPL AAKRQKDGYL NGSQFSWKSV 
      1010       1020       1030       1040       1050
KTEGMSCPTP GCDGSGHVSG SFLTHRSLSG CPRATSAMKK AKLSGEQMLT 
      1060       1070       1080       1090       1100
IKQRASNGIE NDEEIKQLDE EIKELNESNS QMEADMIKLR TQITTMESNL 
      1110       1120       1130       1140       1150
KTIEEENKVI EQQNESLLHE LANLSQSLIH SLANIQLPHM DPINEQNFDA 
      1160       1170       1180 
YVTTLTEMYT NQDRYQSPEN KALLENIKQA VRGIQV
Length:1,186
Mass (Da):133,043
Last modified:April 5, 2011 - v3
Checksum:iAEF068692263FA8C
GO
Isoform 2 (identifier: Q9UL68-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     108-159: Missing.
     493-494: Missing.

Note: No experimental confirmation available.
Show »
Length:1,132
Mass (Da):126,617
Checksum:i0864D75EB5CAA8CE
GO
Isoform 3 (identifier: Q9UL68-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1004: Missing.
     1092-1092: Q → QVT

Note: No experimental confirmation available.
Show »
Length:184
Mass (Da):20,620
Checksum:i40104F07E2F61130
GO
Isoform 4 (identifier: Q9UL68-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     493-494: Missing.

Show »
Length:1,184
Mass (Da):132,858
Checksum:i6EA2551E3046F395
GO

Sequence cautioni

The sequence AAF14051 differs from that shown. Reason: Frameshift at position 1185.Curated
The sequence BAA83058 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti191N → S in AAF14051 (Ref. 1) Curated1
Sequence conflicti935S → R in AAF14051 (Ref. 1) Curated1
Sequence conflicti987D → E in AAF14051 (Ref. 1) Curated1
Sequence conflicti1110I → V in AAF14051 (Ref. 1) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0157221 – 1004Missing in isoform 3. 1 PublicationAdd BLAST1004
Alternative sequenceiVSP_015723108 – 159Missing in isoform 2. 2 PublicationsAdd BLAST52
Alternative sequenceiVSP_015724493 – 494Missing in isoform 2 and isoform 4. 2 Publications2
Alternative sequenceiVSP_0157251092Q → QVT in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF036943 mRNA. Translation: AAF14051.1. Frameshift.
AB029029 mRNA. Translation: BAA83058.2. Different initiation.
AC008276 Genomic DNA. No translation available.
AC009232 Genomic DNA. No translation available.
AC009471 Genomic DNA. No translation available.
AC011301 Genomic DNA. No translation available.
AC093390 Genomic DNA. No translation available.
AC106046 Genomic DNA. No translation available.
BC071612 mRNA. Translation: AAH71612.1.
BC137272 mRNA. Translation: AAI37273.1.
BC137273 mRNA. Translation: AAI37274.1.
BC150281 mRNA. Translation: AAI50282.1.
CCDSiCCDS46222.1. [Q9UL68-4]
CCDS77378.1. [Q9UL68-1]
RefSeqiNP_001289981.1. NM_001303052.1. [Q9UL68-1]
NP_001316773.1. NM_001329844.1. [Q9UL68-1]
NP_001316774.1. NM_001329845.1. [Q9UL68-1]
NP_001316776.1. NM_001329847.1. [Q9UL68-4]
NP_001316777.1. NM_001329848.1. [Q9UL68-4]
NP_055840.2. NM_015025.3. [Q9UL68-4]
UniGeneiHs.434418.
Hs.669852.

Genome annotation databases

EnsembliENST00000399161; ENSP00000382114; ENSG00000186487. [Q9UL68-1]
ENST00000407844; ENSP00000384219; ENSG00000186487. [Q9UL68-3]
ENST00000428368; ENSP00000396103; ENSG00000186487. [Q9UL68-4]
GeneIDi23040.
KEGGihsa:23040.
UCSCiuc002qxd.4. human. [Q9UL68-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF036943 mRNA. Translation: AAF14051.1. Frameshift.
AB029029 mRNA. Translation: BAA83058.2. Different initiation.
AC008276 Genomic DNA. No translation available.
AC009232 Genomic DNA. No translation available.
AC009471 Genomic DNA. No translation available.
AC011301 Genomic DNA. No translation available.
AC093390 Genomic DNA. No translation available.
AC106046 Genomic DNA. No translation available.
BC071612 mRNA. Translation: AAH71612.1.
BC137272 mRNA. Translation: AAI37273.1.
BC137273 mRNA. Translation: AAI37274.1.
BC150281 mRNA. Translation: AAI50282.1.
CCDSiCCDS46222.1. [Q9UL68-4]
CCDS77378.1. [Q9UL68-1]
RefSeqiNP_001289981.1. NM_001303052.1. [Q9UL68-1]
NP_001316773.1. NM_001329844.1. [Q9UL68-1]
NP_001316774.1. NM_001329845.1. [Q9UL68-1]
NP_001316776.1. NM_001329847.1. [Q9UL68-4]
NP_001316777.1. NM_001329848.1. [Q9UL68-4]
NP_055840.2. NM_015025.3. [Q9UL68-4]
UniGeneiHs.434418.
Hs.669852.

3D structure databases

ProteinModelPortaliQ9UL68.
SMRiQ9UL68.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116679. 3 interactors.
IntActiQ9UL68. 5 interactors.
STRINGi9606.ENSP00000396103.

PTM databases

iPTMnetiQ9UL68.
PhosphoSitePlusiQ9UL68.

Polymorphism and mutation databases

BioMutaiMYT1L.
DMDMi327478568.

Proteomic databases

PaxDbiQ9UL68.
PeptideAtlasiQ9UL68.
PRIDEiQ9UL68.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000399161; ENSP00000382114; ENSG00000186487. [Q9UL68-1]
ENST00000407844; ENSP00000384219; ENSG00000186487. [Q9UL68-3]
ENST00000428368; ENSP00000396103; ENSG00000186487. [Q9UL68-4]
GeneIDi23040.
KEGGihsa:23040.
UCSCiuc002qxd.4. human. [Q9UL68-1]

Organism-specific databases

CTDi23040.
DisGeNETi23040.
GeneCardsiMYT1L.
HGNCiHGNC:7623. MYT1L.
MalaCardsiMYT1L.
MIMi613084. gene.
616521. phenotype.
neXtProtiNX_Q9UL68.
OpenTargetsiENSG00000186487.
PharmGKBiPA31427.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3803. Eukaryota.
ENOG410ZPWS. LUCA.
GeneTreeiENSGT00440000038465.
HOGENOMiHOG000234099.
HOVERGENiHBG006433.
InParanoidiQ9UL68.
OMAiPYYGKDP.
OrthoDBiEOG091G0135.
PhylomeDBiQ9UL68.
TreeFamiTF317299.

Miscellaneous databases

ChiTaRSiMYT1L. human.
GenomeRNAii23040.
PROiPR:Q9UL68.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000186487.
CleanExiHS_MYT1L.
ExpressionAtlasiQ9UL68. baseline and differential.
GenevisibleiQ9UL68. HS.

Family and domain databases

InterProiView protein in InterPro
IPR013681. Myelin_TF.
IPR002515. Znf_C2HC.
PfamiView protein in Pfam
PF08474. MYT1. 1 hit.
PF01530. zf-C2HC. 6 hits.
SUPFAMiSSF103637. SSF103637. 6 hits.
PROSITEiView protein in PROSITE
PS51802. ZF_CCHHC. 6 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiMYT1L_HUMAN
AccessioniPrimary (citable) accession number: Q9UL68
Secondary accession number(s): A7E2C7
, B2RP54, Q6IQ17, Q9UPP6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 27, 2005
Last sequence update: April 5, 2011
Last modified: June 7, 2017
This is version 123 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.