Q5TIA1 (MEI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 45.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Meiosis inhibitor protein 1 Alternative name(s): Meiosis defective protein 1 | ||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1274 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Required for normal meiotic chromosome synapsis. May be involved in the formation of meiotic double-strand breaks (DSBs) in spermatocytes By similarity. UniProtKB Q9D4I2 |
| Tissue specificity | Expressed predominantly in testis. Weakly expressed in spleen and thymus. Ref.1 |
| Polymorphism | Genetic variation in MEI1 may predispose European American but not Israeli men to azoospermia by meiotic arrest. Ref.1 |
| Sequence caution | The sequence AAH25400.1 differs from that shown. Reason: Erroneous initiation. The sequence AAH35720.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Meiosis |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | male meiosis I Inferred from electronic annotation. Source: Compara spermatid developmentInferred from electronic annotation. Source: Compara |
| Complete GO annotation... | |
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 Ref.3 (identifier: Q5TIA1-1) 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. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 2 Ref.1 (identifier: Q5TIA1-2) Also known as: Long; The sequence of this isoform differs from the canonical sequence as follows: 1-632: Missing. | ||||||
| Isoform 3 Ref.1 (identifier: Q5TIA1-3) Also known as: Short; The sequence of this isoform differs from the canonical sequence as follows: 1-632: Missing. 904-938: Missing. | ||||||
| Isoform 4 Ref.4 (identifier: Q5TIA1-4) The sequence of this isoform differs from the canonical sequence as follows: 561-569: RHLEQTTHP → VGSPEPRAT 570-1274: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 Ref.2 (identifier: Q5TIA1-5) The sequence of this isoform differs from the canonical sequence as follows: 1-757: Missing. 1193-1222: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 6 Ref.4 (identifier: Q5TIA1-6) The sequence of this isoform differs from the canonical sequence as follows: 445-1274: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 7 Ref.3 Ref.4 (identifier: Q5TIA1-7) The sequence of this isoform differs from the canonical sequence as follows: 1-992: Missing. 1179-1222: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1274 | 1274 | Meiosis inhibitor protein 1 | PRO_0000347264 | |||||
Natural variations | |||||||||
| Alternative sequence | 1 – 992 | 992 | Missing in isoform 7. Ref.3 Ref.4 | VSP_052883 | |||||
| Alternative sequence | 1 – 757 | 757 | Missing in isoform 5. Ref.2 | VSP_052884 | |||||
| Alternative sequence | 1 – 632 | 632 | Missing in isoform 2 and isoform 3. Ref.1 | VSP_052885 | |||||
| Alternative sequence | 445 – 1274 | 830 | Missing in isoform 6. Ref.4 | VSP_052886 | |||||
| Alternative sequence | 561 – 569 | 9 | RHLEQTTHP → VGSPEPRAT in isoform 4. Ref.4 | VSP_052887 | |||||
| Alternative sequence | 570 – 1274 | 705 | Missing in isoform 4. Ref.4 | VSP_052888 | |||||
| Alternative sequence | 904 – 938 | 35 | Missing in isoform 3. Ref.1 | VSP_052889 | |||||
| Alternative sequence | 1179 – 1222 | 44 | Missing in isoform 7. Ref.3 Ref.4 | VSP_052890 | |||||
| Alternative sequence | 1193 – 1222 | 30 | Missing in isoform 5. Ref.2 | VSP_052891 | |||||
| Natural variant | 657 | 1 | E → Q. Corresponds to variant rs17002655 [ dbSNP | Ensembl ]. | VAR_046037 | |||||
| Natural variant | 853 | 1 | S → T. Corresponds to variant rs17002665 [ dbSNP | Ensembl ]. | VAR_046038 | |||||
| Natural variant | 1049 | 1 | K → E. Corresponds to variant rs12484839 [ dbSNP | Ensembl ]. | VAR_051184 | |||||
Experimental info | |||||||||
| Sequence conflict | 367 | 1 | I → T in AAH35720. Ref.4 | ||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY952376 mRNA. Translation: AAY27427.1. AY952377 mRNA. Translation: AAY27428.1. AK094461 mRNA. Translation: BAC04361.1. AK301435 mRNA. Translation: BAH13481.1. AL021453, AL023879, Z83840 Genomic DNA. Translation: CAI22918.2. AL021453 Genomic DNA. Translation: CAQ09777.1. AL023879, AL021453, Z83840 Genomic DNA. Translation: CAQ10977.1. Z83840, AL021453, AL023879 Genomic DNA. Translation: CAI17919.2. BC025400 mRNA. Translation: AAH25400.1. Different initiation. BC032248 mRNA. Translation: AAH32248.1. BC035720 mRNA. Translation: AAH35720.1. Different initiation. |
| IPI | IPI00290916. IPI00795870. IPI00892706. IPI00902519. IPI00902603. IPI00902940. IPI00903317. |
| RefSeq | NP_689726.3. NM_152513.3. |
| UniGene | Hs.116419. |
3D structure databases | |
| ProteinModelPortal | Q5TIA1. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000384115. |
PTM databases | |
| PhosphoSite | Q5TIA1. |
Polymorphism databases | |
| DMDM | 205815070. |
Proteomic databases | |
| PaxDb | Q5TIA1. |
| PRIDE | Q5TIA1. |
Protocols and materials databases | |
| DNASU | 150365. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000300398; ENSP00000300398; ENSG00000167077. ENST00000400107; ENSP00000382978; ENSG00000167077. ENST00000401548; ENSP00000384115; ENSG00000167077. ENST00000403492; ENSP00000385298; ENSG00000167077. |
| GeneID | 150365. |
| KEGG | hsa:150365. |
| UCSC | uc003bay.3. human. uc003baz.1. human. uc003bbb.1. human. uc003bbd.1. human. uc003bbg.2. human. uc010gym.1. human. |
Organism-specific databases | |
| CTD | 150365. |
| GeneCards | GC22P042095. |
| H-InvDB | HIX0016529. |
| HGNC | HGNC:28613. MEI1. |
| HPA | HPA049240. |
| MIM | 608797. gene. |
| neXtProt | NX_Q5TIA1. |
| PharmGKB | PA162395678. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG73841. |
| HOVERGEN | HBG108129. |
| OMA | QHLLVEH. |
| OrthoDB | EOG4P2Q1G. |
Gene expression databases | |
| ArrayExpress | Q5TIA1. |
| Bgee | Q5TIA1. |
| CleanEx | HS_MEI1. |
| Genevestigator | Q5TIA1. |
Family and domain databases | |
| InterPro | IPR016024. ARM-type_fold. [Graphical view] |
| SUPFAM | SSF48371. ARM-type_fold. 1 hit. |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 150365. |
| NextBio | 86420. |
| SOURCE | Search... |
Entry information
| Entry name | MEI1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5TIA1 Secondary accession number(s): B7Z745 Q8TC68 | ||||||||
| Entry history |
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| Entry status | 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. | ||||||||
Relevant documents
| Human chromosome 22 Human chromosome 22: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |

Clusters with
