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UniProtKB - Q5TIA1 (MEI1_HUMAN)
Protein
Meiosis inhibitor protein 1
Gene
MEI1
Organism
Homo sapiens (Human)
Status
Functioni
Required for normal meiotic chromosome synapsis. May be involved in the formation of meiotic double-strand breaks (DSBs) in spermatocytes (By similarity).
By similarityGO - Biological processi
- meiosis I Source: GO_Central
Keywordsi
Biological process | Meiosis |
Enzyme and pathway databases
PathwayCommonsi | Q5TIA1 |
SignaLinki | Q5TIA1 |
Names & Taxonomyi
Protein namesi | Recommended name: Meiosis inhibitor protein 1Alternative name(s): Meiosis defective protein 1 |
Gene namesi | Name:MEI1Imported |
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
HGNCi | HGNC:28613, MEI1 |
MIMi | 608797, gene |
neXtProti | NX_Q5TIA1 |
VEuPathDBi | HostDB:ENSG00000167077 |
Pathology & Biotechi
Involvement in diseasei
Hydatidiform mole, recurrent, 3 (HYDM3)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082605 | 1151 – 1274 | Missing in HYDM3; the variant leads to a normally spliced transcript and two abnormal isoforms. 1 PublicationAdd BLAST | 124 |
Susceptibility to azoospermia may be associated with MEI1 variations.2 Publications
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 150365 |
MalaCardsi | MEI1 |
MIMi | 618431, phenotype |
OpenTargetsi | ENSG00000167077 |
Orphaneti | 254688, Complete hydatidiform mole |
PharmGKBi | PA162395678 |
Miscellaneous databases
Pharosi | Q5TIA1, Tbio |
Genetic variation databases
BioMutai | MEI1 |
DMDMi | 205815070 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000347264 | 1 – 1274 | Meiosis inhibitor protein 1Add BLAST | 1274 |
Proteomic databases
PaxDbi | Q5TIA1 |
PeptideAtlasi | Q5TIA1 |
PRIDEi | Q5TIA1 |
ProteomicsDBi | 65181 [Q5TIA1-1] |
PTM databases
iPTMneti | Q5TIA1 |
PhosphoSitePlusi | Q5TIA1 |
Expressioni
Tissue specificityi
Expressed predominantly in testis. Weakly expressed in spleen and thymus. Expressed in the ovaries, Fallopian tubes and uterus (PubMed:30388401).2 Publications
Gene expression databases
Bgeei | ENSG00000167077, Expressed in muscle tissue and 143 other tissues |
ExpressionAtlasi | Q5TIA1, baseline and differential |
Genevisiblei | Q5TIA1, HS |
Organism-specific databases
HPAi | ENSG00000167077, Tissue enhanced (lymphoid tissue, testis) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 127286, 8 interactors |
IntActi | Q5TIA1, 1 interactor |
STRINGi | 9606.ENSP00000384115 |
Miscellaneous databases
RNActi | Q5TIA1, protein |
Family & Domainsi
Phylogenomic databases
eggNOGi | ENOG502QV5Z, Eukaryota |
GeneTreei | ENSGT00390000002077 |
HOGENOMi | CLU_006759_0_0_1 |
InParanoidi | Q5TIA1 |
OMAi | GLLCNVE |
OrthoDBi | 67575at2759 |
PhylomeDBi | Q5TIA1 |
TreeFami | TF336500 |
Family and domain databases
Gene3Di | 1.25.10.10, 1 hit |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold |
SUPFAMi | SSF48371, SSF48371, 1 hit |
s (7+)i Sequence
Sequence statusi: Complete.
This entry describes 7 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 7 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 11 Publication (identifier: Q5TIA1-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAVRQAATAG TPGPRREEEA ALLFERAHYR HDPRWLLPVT PRLCLACALE
60 70 80 90 100
LLPDPGVSLV RKKHMLSCFQ DALVRHTSLV TQLVSQDQRV CIHFISVLFG
110 120 130 140 150
LLCSMEDGSV TDLCIEVLIQ ITTQLKLEQT IRCLLDECHK ELCNMPSMRG
160 170 180 190 200
SLATLTLLGK LVDAIPALAD ELVMEHGNLM EHLLRGLVYP SEGIQASVCY
210 220 230 240 250
LYGKLYSSPV AAEMLSGHFR EKLFPLFLSI LDGAQTKELQ INCLGLLRQL
260 270 280 290 300
LKYDLFVSMI MNQDGLGESA KNIEGSSGNT SLPLVLKKLL LSRDETLQVA
310 320 330 340 350
SAHCITAVLV HSPAKHASAF IHADIPEFLF EHLSSSSEVL VWSSCNCLTL
360 370 380 390 400
LVEEPLFFSK CHTVYGIEAV VRSLQGSLKM NNIELHKQGL LLFAEILTRQ
410 420 430 440 450
PEEIKLFTSS AMCRDAGRAL QEAVSSPVLE VAAEALKATS AFLRKDHQST
460 470 480 490 500
PPVQYGELQA LLEAMLNRCA EFSQTLLSRR PLGHASSRDS EKAILQRGKF
510 520 530 540 550
LLSTLEGFRS ACRLAIEFQS EPSAQENPFT APSAKKEDTL EAFSEFLLSA
560 570 580 590 600
CDSLCIPMVM RHLEQTTHPA LMEVFLSILH NLFVIVPHMK EKFSKKLASS
610 620 630 640 650
SFIRLTLELK ARFCSGLSHS ALNQVCSNFL YYMCLNLLSA PEKTGPPSKE
660 670 680 690 700
ELSAVSELLQ HGLPQISSRS PESLAFLSDR QYMEGAARQR QYCILLLFYL
710 720 730 740 750
AYIHEDRFVS EAELFEAVQS FLLSLQDQGE RPPLVVFKAS IYLLAICQDK
760 770 780 790 800
DNTLRETMVS AIRKFLEGIP DLQLVYTHHP LLLRFFLLYP ELMSRYGHRV
810 820 830 840 850
LELWFFWEES SYEELDDVTS AGQPALPASL VVLFQLLRSI PSILLILLDL
860 870 880 890 900
IYSSPVDTAH KVLISLRTFL RRNEDIQVGG LIRGHFLLIL QRLLVEHGAS
910 920 930 940 950
PSGASGNLPL LLSLLSLMQL RNVSEQELDS VAMKLLHQVS KLCGKCSPTD
960 970 980 990 1000
VDILQPSFNF LYWSLHQTTP SSQKRAAAVL LSSTGLMELL EKMLALTLAK
1010 1020 1030 1040 1050
ADSPRTALLC SAWLLTASFS AQQHKGSLQV HQTLSVEMDQ VLKALSFPKK
1060 1070 1080 1090 1100
KAALLSAAIL CFLRTALRQS FSSALVALVP SGAQPLPATK DTVLAPLRMS
1110 1120 1130 1140 1150
QVRSLVIGLQ NLLVQKDPLL SQACVGCLEA LLDYLDARSP DIALHVASQP
1160 1170 1180 1190 1200
WNRFLLFTLL DAGENSFLRP EILRLMTLFM RYRSSSVLSH EEVGDVLQGV
1210 1220 1230 1240 1250
ALADLSTLSN TTLQALHGFF QQLQSMGHLA DHSMAQTLQA SLEGLPPSTS
1260 1270
SGQPPLQDML CLGGVAVSLS HIRN
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0Y787 | H0Y787_HUMAN | Meiosis inhibitor protein 1 | MEI1 | 63 | Annotation score: | ||
F5GZT0 | F5GZT0_HUMAN | Meiosis inhibitor protein 1 | MEI1 | 506 | Annotation score: |
Sequence cautioni
The sequence AAH25400 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH35720 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 367 | I → T in AAH35720 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081145 | 408 | T → R Found in patients with non-obstructive azoospermia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs533817526Ensembl. | 1 | |
Natural variantiVAR_046037 | 657 | E → Q. Corresponds to variant dbSNP:rs17002655EnsemblClinVar. | 1 | |
Natural variantiVAR_046038 | 853 | S → T. Corresponds to variant dbSNP:rs17002665Ensembl. | 1 | |
Natural variantiVAR_051184 | 1049 | K → E. Corresponds to variant dbSNP:rs12484839Ensembl. | 1 | |
Natural variantiVAR_082605 | 1151 – 1274 | Missing in HYDM3; the variant leads to a normally spliced transcript and two abnormal isoforms. 1 PublicationAdd BLAST | 124 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_052883 | 1 – 992 | Missing in isoform 7. 2 PublicationsAdd BLAST | 992 | |
Alternative sequenceiVSP_052884 | 1 – 757 | Missing in isoform 5. 1 PublicationAdd BLAST | 757 | |
Alternative sequenceiVSP_052885 | 1 – 632 | Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST | 632 | |
Alternative sequenceiVSP_052886 | 445 – 1274 | Missing in isoform 6. 1 PublicationAdd BLAST | 830 | |
Alternative sequenceiVSP_052887 | 561 – 569 | RHLEQTTHP → VGSPEPRAT in isoform 4. 1 Publication | 9 | |
Alternative sequenceiVSP_052888 | 570 – 1274 | Missing in isoform 4. 1 PublicationAdd BLAST | 705 | |
Alternative sequenceiVSP_052889 | 904 – 938 | Missing in isoform 3. 1 PublicationAdd BLAST | 35 | |
Alternative sequenceiVSP_052890 | 1179 – 1222 | Missing in isoform 7. 2 PublicationsAdd BLAST | 44 | |
Alternative sequenceiVSP_052891 | 1193 – 1222 | Missing in isoform 5. 1 PublicationAdd BLAST | 30 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY952376 mRNA Translation: AAY27427.1 AY952377 mRNA Translation: AAY27428.1 AK094461 mRNA Translation: BAC04361.1 AK301435 mRNA Translation: BAH13481.1 AL021453 Genomic DNA No translation available. AL023879 Genomic DNA No translation available. Z83840 Genomic DNA No translation available. BC025400 mRNA Translation: AAH25400.1 Different initiation. BC032248 mRNA Translation: AAH32248.1 BC035720 mRNA Translation: AAH35720.1 Different initiation. |
CCDSi | CCDS46718.1 [Q5TIA1-1] |
RefSeqi | NP_689726.3, NM_152513.3 [Q5TIA1-1] |
Genome annotation databases
Ensembli | ENST00000401548.8; ENSP00000384115.3; ENSG00000167077.13 ENST00000403492.5; ENSP00000385298.1; ENSG00000167077.13 [Q5TIA1-7] |
GeneIDi | 150365 |
KEGGi | hsa:150365 |
MANE-Selecti | ENST00000401548.8; ENSP00000384115.3; NM_152513.4; NP_689726.3 |
UCSCi | uc003baz.2, human [Q5TIA1-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY952376 mRNA Translation: AAY27427.1 AY952377 mRNA Translation: AAY27428.1 AK094461 mRNA Translation: BAC04361.1 AK301435 mRNA Translation: BAH13481.1 AL021453 Genomic DNA No translation available. AL023879 Genomic DNA No translation available. Z83840 Genomic DNA No translation available. BC025400 mRNA Translation: AAH25400.1 Different initiation. BC032248 mRNA Translation: AAH32248.1 BC035720 mRNA Translation: AAH35720.1 Different initiation. |
CCDSi | CCDS46718.1 [Q5TIA1-1] |
RefSeqi | NP_689726.3, NM_152513.3 [Q5TIA1-1] |
3D structure databases
AlphaFoldDBi | Q5TIA1 |
SMRi | Q5TIA1 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 127286, 8 interactors |
IntActi | Q5TIA1, 1 interactor |
STRINGi | 9606.ENSP00000384115 |
PTM databases
iPTMneti | Q5TIA1 |
PhosphoSitePlusi | Q5TIA1 |
Genetic variation databases
BioMutai | MEI1 |
DMDMi | 205815070 |
Proteomic databases
PaxDbi | Q5TIA1 |
PeptideAtlasi | Q5TIA1 |
PRIDEi | Q5TIA1 |
ProteomicsDBi | 65181 [Q5TIA1-1] |
Protocols and materials databases
Antibodypediai | 27052, 78 antibodies from 15 providers |
DNASUi | 150365 |
Genome annotation databases
Ensembli | ENST00000401548.8; ENSP00000384115.3; ENSG00000167077.13 ENST00000403492.5; ENSP00000385298.1; ENSG00000167077.13 [Q5TIA1-7] |
GeneIDi | 150365 |
KEGGi | hsa:150365 |
MANE-Selecti | ENST00000401548.8; ENSP00000384115.3; NM_152513.4; NP_689726.3 |
UCSCi | uc003baz.2, human [Q5TIA1-1] |
Organism-specific databases
CTDi | 150365 |
DisGeNETi | 150365 |
GeneCardsi | MEI1 |
HGNCi | HGNC:28613, MEI1 |
HPAi | ENSG00000167077, Tissue enhanced (lymphoid tissue, testis) |
MalaCardsi | MEI1 |
MIMi | 608797, gene 618431, phenotype |
neXtProti | NX_Q5TIA1 |
OpenTargetsi | ENSG00000167077 |
Orphaneti | 254688, Complete hydatidiform mole |
PharmGKBi | PA162395678 |
VEuPathDBi | HostDB:ENSG00000167077 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QV5Z, Eukaryota |
GeneTreei | ENSGT00390000002077 |
HOGENOMi | CLU_006759_0_0_1 |
InParanoidi | Q5TIA1 |
OMAi | GLLCNVE |
OrthoDBi | 67575at2759 |
PhylomeDBi | Q5TIA1 |
TreeFami | TF336500 |
Enzyme and pathway databases
PathwayCommonsi | Q5TIA1 |
SignaLinki | Q5TIA1 |
Miscellaneous databases
BioGRID-ORCSi | 150365, 9 hits in 1070 CRISPR screens |
ChiTaRSi | MEI1, human |
GenomeRNAii | 150365 |
Pharosi | Q5TIA1, Tbio |
PROi | PR:Q5TIA1 |
RNActi | Q5TIA1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000167077, Expressed in muscle tissue and 143 other tissues |
ExpressionAtlasi | Q5TIA1, baseline and differential |
Genevisiblei | Q5TIA1, HS |
Family and domain databases
Gene3Di | 1.25.10.10, 1 hit |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold |
SUPFAMi | SSF48371, SSF48371, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | MEI1_HUMAN | |
Accessioni | Q5TIA1Primary (citable) accession number: Q5TIA1 Secondary accession number(s): B7Z745 Q8TC68 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 2, 2008 |
Last sequence update: | April 8, 2008 | |
Last modified: | May 25, 2022 | |
This is version 103 of the entry and version 2 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot