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Protein

Myelin transcription factor 1-like protein

Gene

MYT1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 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

GO - Biological processi

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
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

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

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.

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: July 5, 2017
This is version 124 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