UniProtKB - Q9UL68 (MYT1L_HUMAN)
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Protein
Myelin transcription factor 1-like protein
Gene
MYT1L
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 22 – 65 | CCHHC-type 1PROSITE-ProRule annotationAdd BLAST | 44 | |
Zinc fingeri | 497 – 540 | CCHHC-type 2PROSITE-ProRule annotationAdd BLAST | 44 | |
Zinc fingeri | 541 – 584 | CCHHC-type 3PROSITE-ProRule annotationAdd BLAST | 44 | |
Zinc fingeri | 896 – 939 | CCHHC-type 4PROSITE-ProRule annotationAdd BLAST | 44 | |
Zinc fingeri | 945 – 988 | CCHHC-type 5PROSITE-ProRule annotationAdd BLAST | 44 | |
Zinc fingeri | 998 – 1041 | CCHHC-type 6PROSITE-ProRule annotationAdd BLAST | 44 |
GO - Molecular functioni
- DNA binding Source: UniProtKB-KW
- RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
- transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: UniProtKB
- zinc ion binding Source: InterPro
GO - Biological processi
- negative regulation of transcription by RNA polymerase II Source: UniProtKB
- nervous system development Source: UniProtKB
- neuron development Source: UniProtKB
- neuron differentiation Source: UniProtKB
- neuron fate commitment Source: UniProtKB
- neuron fate specification Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: UniProtKB
- transcription, DNA-templated Source: UniProtKB-KW
Keywordsi
Molecular function | Developmental protein, DNA-binding, Repressor |
Biological process | Differentiation, Neurogenesis, Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Names & Taxonomyi
Protein namesi | Recommended name: Myelin transcription factor 1-like protein1 PublicationShort name: MyT1-L1 Publication Short name: MyT1L1 Publication |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000186487.17. |
HGNCi | HGNC:7623. MYT1L. |
MIMi | 613084. gene. |
neXtProti | NX_Q9UL68. |
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:616521Keywords - Diseasei
Autism spectrum disorder, Mental retardationOrganism-specific databases
DisGeNETi | 23040. |
MalaCardsi | MYT1L. |
MIMi | 616521. phenotype. |
OpenTargetsi | ENSG00000186487. |
PharmGKBi | PA31427. |
Polymorphism and mutation databases
BioMutai | MYT1L. |
DMDMi | 327478568. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000096673 | 1 – 1186 | Myelin transcription factor 1-like proteinAdd BLAST | 1186 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 250 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
PaxDbi | Q9UL68. |
PeptideAtlasi | Q9UL68. |
PRIDEi | Q9UL68. |
PTM databases
iPTMneti | Q9UL68. |
PhosphoSitePlusi | Q9UL68. |
Expressioni
Gene expression databases
Bgeei | ENSG00000186487. |
CleanExi | HS_MYT1L. |
ExpressionAtlasi | Q9UL68. baseline and differential. |
Genevisiblei | Q9UL68. HS. |
Interactioni
Subunit structurei
Interacts with SIN3B.By similarity
Protein-protein interaction databases
BioGridi | 116679. 3 interactors. |
IntActi | Q9UL68. 5 interactors. |
STRINGi | 9606.ENSP00000396103. |
Structurei
3D structure databases
ProteinModelPortali | Q9UL68. |
SMRi | Q9UL68. |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 1056 – 1130 | Sequence analysisAdd BLAST | 75 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 97 – 169 | Asp/Glu-richAdd BLAST | 73 | |
Compositional biasi | 686 – 719 | Ser-richAdd BLAST | 34 |
Sequence similaritiesi
Belongs to the MYT1 family.Curated
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 22 – 65 | CCHHC-type 1PROSITE-ProRule annotationAdd BLAST | 44 | |
Zinc fingeri | 497 – 540 | CCHHC-type 2PROSITE-ProRule annotationAdd BLAST | 44 | |
Zinc fingeri | 541 – 584 | CCHHC-type 3PROSITE-ProRule annotationAdd BLAST | 44 | |
Zinc fingeri | 896 – 939 | CCHHC-type 4PROSITE-ProRule annotationAdd BLAST | 44 | |
Zinc fingeri | 945 – 988 | CCHHC-type 5PROSITE-ProRule annotationAdd BLAST | 44 | |
Zinc fingeri | 998 – 1041 | CCHHC-type 6PROSITE-ProRule annotationAdd BLAST | 44 |
Keywords - Domaini
Coiled coil, Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG3803. Eukaryota. ENOG410ZPWS. LUCA. |
GeneTreei | ENSGT00440000038465. |
HOGENOMi | HOG000234099. |
HOVERGENi | HBG006433. |
InParanoidi | Q9UL68. |
OMAi | PYYGKDP. |
OrthoDBi | EOG091G0135. |
PhylomeDBi | Q9UL68. |
TreeFami | TF317299. |
Family and domain databases
InterProi | View protein in InterPro IPR013681. Myelin_TF. IPR002515. Znf_C2HC. IPR036060. Znf_C2HC_sf. |
Pfami | View protein in Pfam PF08474. MYT1. 1 hit. PF01530. zf-C2HC. 6 hits. |
SUPFAMi | SSF103637. SSF103637. 6 hits. |
PROSITEi | View protein in PROSITE PS51802. ZF_CCHHC. 6 hits. |
s (4)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative 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.
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
Sequence cautioni
The sequence BAA83058 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 191 | N → S in AAF14051 (Ref. 1) Curated | 1 | |
Sequence conflicti | 935 | S → R in AAF14051 (Ref. 1) Curated | 1 | |
Sequence conflicti | 987 | D → E in AAF14051 (Ref. 1) Curated | 1 | |
Sequence conflicti | 1110 | I → V in AAF14051 (Ref. 1) Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_015722 | 1 – 1004 | Missing in isoform 3. 1 PublicationAdd BLAST | 1004 | |
Alternative sequenceiVSP_015723 | 108 – 159 | Missing in isoform 2. 2 PublicationsAdd BLAST | 52 | |
Alternative sequenceiVSP_015724 | 493 – 494 | Missing in isoform 2 and isoform 4. 2 Publications | 2 | |
Alternative sequenceiVSP_015725 | 1092 | Q → QVT in isoform 3. 1 Publication | 1 |
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. |
CCDSi | CCDS46222.1. [Q9UL68-4] CCDS77378.1. [Q9UL68-1] |
RefSeqi | NP_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] |
UniGenei | Hs.434418. Hs.669852. |
Genome annotation databases
Ensembli | ENST00000399161; ENSP00000382114; ENSG00000186487. [Q9UL68-1] ENST00000407844; ENSP00000384219; ENSG00000186487. [Q9UL68-3] ENST00000428368; ENSP00000396103; ENSG00000186487. [Q9UL68-4] |
GeneIDi | 23040. |
KEGGi | hsa:23040. |
UCSCi | uc002qxd.4. human. [Q9UL68-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Entry informationi
Entry namei | MYT1L_HUMAN | |
Accessioni | Q9UL68Primary (citable) accession number: Q9UL68 Secondary accession number(s): A7E2C7 Q9UPP6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 27, 2005 |
Last sequence update: | April 5, 2011 | |
Last modified: | March 28, 2018 | |
This is version 129 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |