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Q5TIA1 (MEI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 54. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Meiosis inhibitor protein 1
Alternative name(s):
Meiosis defective protein 1
Gene names
Name:MEI1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1274 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processMeiosis
   Coding sequence diversityAlternative splicing
Polymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmale meiosis I

Inferred from electronic annotation. Source: Ensembl

spermatid development

Inferred from electronic annotation. Source: Ensembl

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12741274Meiosis inhibitor protein 1
PRO_0000347264

Natural variations

Alternative sequence1 – 992992Missing in isoform 7. Ref.3 Ref.4
VSP_052883
Alternative sequence1 – 757757Missing in isoform 5. Ref.2
VSP_052884
Alternative sequence1 – 632632Missing in isoform 2 and isoform 3. Ref.1
VSP_052885
Alternative sequence445 – 1274830Missing in isoform 6. Ref.4
VSP_052886
Alternative sequence561 – 5699RHLEQTTHP → VGSPEPRAT in isoform 4. Ref.4
VSP_052887
Alternative sequence570 – 1274705Missing in isoform 4. Ref.4
VSP_052888
Alternative sequence904 – 93835Missing in isoform 3. Ref.1
VSP_052889
Alternative sequence1179 – 122244Missing in isoform 7. Ref.3 Ref.4
VSP_052890
Alternative sequence1193 – 122230Missing in isoform 5. Ref.2
VSP_052891
Natural variant6571E → Q.
Corresponds to variant rs17002655 [ dbSNP | Ensembl ].
VAR_046037
Natural variant8531S → T.
Corresponds to variant rs17002665 [ dbSNP | Ensembl ].
VAR_046038
Natural variant10491K → E.
Corresponds to variant rs12484839 [ dbSNP | Ensembl ].
VAR_051184

Experimental info

Sequence conflict3671I → T in AAH35720. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 8, 2008. Version 2.
Checksum: 3F339400DD50B11E

FASTA1,274141,161
        10         20         30         40         50         60 
MAVRQAATAG TPGPRREEEA ALLFERAHYR HDPRWLLPVT PRLCLACALE LLPDPGVSLV 

        70         80         90        100        110        120 
RKKHMLSCFQ DALVRHTSLV TQLVSQDQRV CIHFISVLFG LLCSMEDGSV TDLCIEVLIQ 

       130        140        150        160        170        180 
ITTQLKLEQT IRCLLDECHK ELCNMPSMRG SLATLTLLGK LVDAIPALAD ELVMEHGNLM 

       190        200        210        220        230        240 
EHLLRGLVYP SEGIQASVCY LYGKLYSSPV AAEMLSGHFR EKLFPLFLSI LDGAQTKELQ 

       250        260        270        280        290        300 
INCLGLLRQL LKYDLFVSMI MNQDGLGESA KNIEGSSGNT SLPLVLKKLL LSRDETLQVA 

       310        320        330        340        350        360 
SAHCITAVLV HSPAKHASAF IHADIPEFLF EHLSSSSEVL VWSSCNCLTL LVEEPLFFSK 

       370        380        390        400        410        420 
CHTVYGIEAV VRSLQGSLKM NNIELHKQGL LLFAEILTRQ PEEIKLFTSS AMCRDAGRAL 

       430        440        450        460        470        480 
QEAVSSPVLE VAAEALKATS AFLRKDHQST PPVQYGELQA LLEAMLNRCA EFSQTLLSRR 

       490        500        510        520        530        540 
PLGHASSRDS EKAILQRGKF LLSTLEGFRS ACRLAIEFQS EPSAQENPFT APSAKKEDTL 

       550        560        570        580        590        600 
EAFSEFLLSA CDSLCIPMVM RHLEQTTHPA LMEVFLSILH NLFVIVPHMK EKFSKKLASS 

       610        620        630        640        650        660 
SFIRLTLELK ARFCSGLSHS ALNQVCSNFL YYMCLNLLSA PEKTGPPSKE ELSAVSELLQ 

       670        680        690        700        710        720 
HGLPQISSRS PESLAFLSDR QYMEGAARQR QYCILLLFYL AYIHEDRFVS EAELFEAVQS 

       730        740        750        760        770        780 
FLLSLQDQGE RPPLVVFKAS IYLLAICQDK DNTLRETMVS AIRKFLEGIP DLQLVYTHHP 

       790        800        810        820        830        840 
LLLRFFLLYP ELMSRYGHRV LELWFFWEES SYEELDDVTS AGQPALPASL VVLFQLLRSI 

       850        860        870        880        890        900 
PSILLILLDL IYSSPVDTAH KVLISLRTFL RRNEDIQVGG LIRGHFLLIL QRLLVEHGAS 

       910        920        930        940        950        960 
PSGASGNLPL LLSLLSLMQL RNVSEQELDS VAMKLLHQVS KLCGKCSPTD VDILQPSFNF 

       970        980        990       1000       1010       1020 
LYWSLHQTTP SSQKRAAAVL LSSTGLMELL EKMLALTLAK ADSPRTALLC SAWLLTASFS 

      1030       1040       1050       1060       1070       1080 
AQQHKGSLQV HQTLSVEMDQ VLKALSFPKK KAALLSAAIL CFLRTALRQS FSSALVALVP 

      1090       1100       1110       1120       1130       1140 
SGAQPLPATK DTVLAPLRMS QVRSLVIGLQ NLLVQKDPLL SQACVGCLEA LLDYLDARSP 

      1150       1160       1170       1180       1190       1200 
DIALHVASQP WNRFLLFTLL DAGENSFLRP EILRLMTLFM RYRSSSVLSH EEVGDVLQGV 

      1210       1220       1230       1240       1250       1260 
ALADLSTLSN TTLQALHGFF QQLQSMGHLA DHSMAQTLQA SLEGLPPSTS SGQPPLQDML 

      1270 
CLGGVAVSLS HIRN 

« Hide

Isoform 2 (Long) [UniParc].

Checksum: 7CC67F82BCCB6677
Show »

FASTA64271,012
Isoform 3 (Short) [UniParc].

Checksum: 65F6318FF6D997EC
Show »

FASTA60767,167
Isoform 4 [UniParc].

Checksum: 33FEE854AC0C1B16
Show »

FASTA56962,758
Isoform 5 [UniParc].

Checksum: E2FBC0BCCF47D825
Show »

FASTA48753,736
Isoform 6 [UniParc].

Checksum: 9FAFEDC4D6CC5CF1
Show »

FASTA44449,015
Isoform 7 [UniParc].

Checksum: 4A13904D7038F278
Show »

FASTA23825,555

References

« Hide 'large scale' references
[1]"Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest."
Sato H., Miyamoto T., Yogev L., Namiki M., Koh E., Hayashi H., Sasaki Y., Ishikawa M., Lamb D.J., Matsumoto N., Birk O.S., Niikawa N., Sengoku K.
J. Hum. Genet. 51:533-540(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3), TISSUE SPECIFICITY, POLYMORPHISM.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 5).
Tissue: Cerebellum and Synovial cell.
[3]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4; 6 AND 7).
Tissue: Leukocyte, Ovary and Testis.
+Additional computationally mapped 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.
CCDSCCDS46718.1. [Q5TIA1-1]
RefSeqNP_689726.3. NM_152513.3. [Q5TIA1-1]
UniGeneHs.116419.

3D structure databases

ProteinModelPortalQ5TIA1.
SMRQ5TIA1. Positions 285-444, 845-875.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127286. 1 interaction.
STRING9606.ENSP00000384115.

PTM databases

PhosphoSiteQ5TIA1.

Polymorphism databases

DMDM205815070.

Proteomic databases

PaxDbQ5TIA1.
PRIDEQ5TIA1.

Protocols and materials databases

DNASU150365.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000300398; ENSP00000300398; ENSG00000167077. [Q5TIA1-7]
ENST00000400107; ENSP00000382978; ENSG00000167077. [Q5TIA1-3]
ENST00000401548; ENSP00000384115; ENSG00000167077. [Q5TIA1-1]
ENST00000403492; ENSP00000385298; ENSG00000167077. [Q5TIA1-7]
GeneID150365.
KEGGhsa:150365.
UCSCuc003bay.3. human. [Q5TIA1-4]
uc003baz.1. human. [Q5TIA1-1]
uc003bbb.1. human. [Q5TIA1-2]
uc003bbd.1. human. [Q5TIA1-5]
uc003bbg.2. human. [Q5TIA1-7]
uc010gym.1. human. [Q5TIA1-3]

Organism-specific databases

CTD150365.
GeneCardsGC22P042095.
H-InvDBHIX0016529.
HGNCHGNC:28613. MEI1.
HPAHPA049240.
MIM608797. gene.
neXtProtNX_Q5TIA1.
PharmGKBPA162395678.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG73841.
HOVERGENHBG108129.
OMAPPLVVFR.
OrthoDBEOG7327NC.
PhylomeDBQ5TIA1.
TreeFamTF336500.

Gene expression databases

ArrayExpressQ5TIA1.
BgeeQ5TIA1.
CleanExHS_MEI1.
GenevestigatorQ5TIA1.

Family and domain databases

InterProIPR016024. ARM-type_fold.
[Graphical view]
SUPFAMSSF48371. SSF48371. 2 hits.
ProtoNetSearch...

Other

GenomeRNAi150365.
NextBio86420.
PROQ5TIA1.
SOURCESearch...

Entry information

Entry nameMEI1_HUMAN
AccessionPrimary (citable) accession number: Q5TIA1
Secondary accession number(s): B7Z745 expand/collapse secondary AC list , Q1XAP1, Q1XAP2, Q8IYJ5, Q8N5K5, Q8N9H3, Q8TC68
Entry history
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: April 8, 2008
Last modified: July 9, 2014
This is version 54 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM