ID   MAJIN_HUMAN             Reviewed;         176 AA.
AC   Q3KP22; B3KS99; E9PPE5;
DT   18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT   20-JAN-2016, sequence version 2.
DT   24-JAN-2024, entry version 119.
DE   RecName: Full=Membrane-anchored junction protein {ECO:0000250|UniProtKB:Q9D992};
GN   Name=MAJIN {ECO:0000312|HGNC:HGNC:27441};
GN   Synonyms=C11orf85 {ECO:0000312|HGNC:HGNC:27441};
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Testis;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16554811; DOI=10.1038/nature04632;
RA   Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA   Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA   Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA   Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA   Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA   Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT   "Human chromosome 11 DNA sequence and analysis including novel gene
RT   identification.";
RL   Nature 440:497-500(2006).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
CC   -!- FUNCTION: Meiosis-specific telomere-associated protein involved in
CC       meiotic telomere attachment to the nucleus inner membrane, a crucial
CC       step for homologous pairing and synapsis. Component of the MAJIN-TERB1-
CC       TERB2 complex, which promotes telomere cap exchange by mediating
CC       attachment of telomeric DNA to the inner nuclear membrane and
CC       replacement of the protective cap of telomeric chromosomes: in early
CC       meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA
CC       and the shelterin/telosome complex. During prophase, the complex
CC       matures and promotes release of the shelterin/telosome complex from
CC       telomeric DNA. In the complex, MAJIN acts as the anchoring subunit to
CC       the nucleus inner membrane. MAJIN shows DNA-binding activity, possibly
CC       for the stabilization of telomere attachment on the nucleus inner
CC       membrane. {ECO:0000250|UniProtKB:Q9D992}.
CC   -!- SUBUNIT: Component of the MAJIN-TERB1-TERB2 complex, composed of MAJIN,
CC       TERB1 and TERB2. {ECO:0000250|UniProtKB:Q9D992}.
CC   -!- INTERACTION:
CC       Q3KP22-3; P27658: COL8A1; NbExp=3; IntAct=EBI-18015780, EBI-747133;
CC       Q3KP22-3; O43741: PRKAB2; NbExp=3; IntAct=EBI-18015780, EBI-1053424;
CC       Q3KP22-3; Q9Y5W9: SNX11; NbExp=3; IntAct=EBI-18015780, EBI-10329449;
CC       Q3KP22-3; Q9BSW7: SYT17; NbExp=3; IntAct=EBI-18015780, EBI-745392;
CC       Q3KP22-3; Q8NHR7: TERB2; NbExp=3; IntAct=EBI-18015780, EBI-23751757;
CC       Q3KP22-3; Q86WT6-2: TRIM69; NbExp=3; IntAct=EBI-18015780, EBI-11525489;
CC   -!- SUBCELLULAR LOCATION: Nucleus inner membrane
CC       {ECO:0000250|UniProtKB:Q9D992}; Single-pass membrane protein
CC       {ECO:0000250|UniProtKB:Q9D992}. Chromosome, telomere
CC       {ECO:0000250|UniProtKB:Q9D992}. Note=In leptotene spermatocytes,
CC       localizes to telomeres that localize to the nucleus inner membrane.
CC       {ECO:0000250|UniProtKB:Q9D992}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=3;
CC         IsoId=Q3KP22-1; Sequence=Displayed;
CC       Name=1;
CC         IsoId=Q3KP22-3; Sequence=VSP_058061, VSP_058062, VSP_058063;
CC       Name=2;
CC         IsoId=Q3KP22-4; Sequence=VSP_058060;
CC   -!- SIMILARITY: Belongs to the MAJIN family. {ECO:0000305}.
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DR   EMBL; AK093130; BAG52661.1; -; mRNA.
DR   EMBL; AP000436; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AP001187; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC106951; AAI06952.1; -; mRNA.
DR   EMBL; BC106952; AAI06953.1; -; mRNA.
DR   CCDS; CCDS31603.1; -. [Q3KP22-3]
DR   CCDS; CCDS73316.1; -. [Q3KP22-1]
DR   RefSeq; NP_001032302.1; NM_001037225.2. [Q3KP22-3]
DR   RefSeq; NP_001287732.1; NM_001300803.1. [Q3KP22-1]
DR   RefSeq; NP_001305737.1; NM_001318808.1. [Q3KP22-4]
DR   PDB; 6GNX; X-ray; 2.90 A; A/C=1-49.
DR   PDB; 6GNY; X-ray; 1.85 A; A/C=1-49.
DR   PDB; 6J08; X-ray; 2.90 A; A/B/C=2-49.
DR   PDBsum; 6GNX; -.
DR   PDBsum; 6GNY; -.
DR   PDBsum; 6J08; -.
DR   AlphaFoldDB; Q3KP22; -.
DR   SMR; Q3KP22; -.
DR   BioGRID; 129469; 10.
DR   IntAct; Q3KP22; 8.
DR   iPTMnet; Q3KP22; -.
DR   PhosphoSitePlus; Q3KP22; -.
DR   BioMuta; MAJIN; -.
DR   jPOST; Q3KP22; -.
DR   MassIVE; Q3KP22; -.
DR   PeptideAtlas; Q3KP22; -.
DR   ProteomicsDB; 22695; -.
DR   ProteomicsDB; 61710; -. [Q3KP22-1]
DR   Antibodypedia; 52613; 47 antibodies from 14 providers.
DR   DNASU; 283129; -.
DR   Ensembl; ENST00000301896.6; ENSP00000301896.5; ENSG00000168070.12. [Q3KP22-3]
DR   Ensembl; ENST00000432175.5; ENSP00000395273.1; ENSG00000168070.12. [Q3KP22-3]
DR   Ensembl; ENST00000530444.5; ENSP00000434568.1; ENSG00000168070.12. [Q3KP22-1]
DR   GeneID; 283129; -.
DR   KEGG; hsa:283129; -.
DR   MANE-Select; ENST00000301896.6; ENSP00000301896.5; NM_001037225.3; NP_001032302.1. [Q3KP22-3]
DR   UCSC; uc001ocb.2; human. [Q3KP22-1]
DR   UCSC; uc001ocd.2; human.
DR   AGR; HGNC:27441; -.
DR   CTD; 283129; -.
DR   DisGeNET; 283129; -.
DR   GeneCards; MAJIN; -.
DR   HGNC; HGNC:27441; MAJIN.
DR   HPA; ENSG00000168070; Tissue enriched (testis).
DR   MIM; 617130; gene.
DR   neXtProt; NX_Q3KP22; -.
DR   OpenTargets; ENSG00000168070; -.
DR   PharmGKB; PA162377786; -.
DR   VEuPathDB; HostDB:ENSG00000168070; -.
DR   eggNOG; ENOG502S50S; Eukaryota.
DR   GeneTree; ENSGT00390000007971; -.
DR   HOGENOM; CLU_094252_0_0_1; -.
DR   InParanoid; Q3KP22; -.
DR   OMA; XKSKWER; -.
DR   OrthoDB; 5403618at2759; -.
DR   TreeFam; TF336863; -.
DR   PathwayCommons; Q3KP22; -.
DR   SignaLink; Q3KP22; -.
DR   SIGNOR; Q3KP22; -.
DR   BioGRID-ORCS; 283129; 16 hits in 1113 CRISPR screens.
DR   ChiTaRS; MAJIN; human.
DR   GenomeRNAi; 283129; -.
DR   Pharos; Q3KP22; Tdark.
DR   PRO; PR:Q3KP22; -.
DR   Proteomes; UP000005640; Chromosome 11.
DR   RNAct; Q3KP22; Protein.
DR   Bgee; ENSG00000168070; Expressed in right testis and 111 other cell types or tissues.
DR   ExpressionAtlas; Q3KP22; baseline and differential.
DR   GO; GO:0000781; C:chromosome, telomeric region; ISS:UniProtKB.
DR   GO; GO:0005637; C:nuclear inner membrane; ISS:UniProtKB.
DR   GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR   GO; GO:1990918; P:double-strand break repair involved in meiotic recombination; IEA:Ensembl.
DR   GO; GO:0007129; P:homologous chromosome pairing at meiosis; ISS:UniProtKB.
DR   GO; GO:0070197; P:meiotic attachment of telomere to nuclear envelope; ISS:UniProtKB.
DR   GO; GO:0045141; P:meiotic telomere clustering; ISS:UniProtKB.
DR   GO; GO:0048477; P:oogenesis; IEA:Ensembl.
DR   GO; GO:0007283; P:spermatogenesis; IEA:Ensembl.
DR   InterPro; IPR027816; MAJIN.
DR   PANTHER; PTHR35824:SF1; MEMBRANE-ANCHORED JUNCTION PROTEIN; 1.
DR   PANTHER; PTHR35824; MEMBRANE-ANCHORED JUNCTION PROTEIN MAJIN; 1.
DR   Pfam; PF15077; MAJIN; 2.
DR   Genevisible; Q3KP22; HS.
PE   1: Evidence at protein level;
KW   3D-structure; Alternative splicing; Chromosome; DNA-binding; Meiosis;
KW   Membrane; Nucleus; Reference proteome; Telomere; Transmembrane;
KW   Transmembrane helix.
FT   CHAIN           1..176
FT                   /note="Membrane-anchored junction protein"
FT                   /id="PRO_0000325832"
FT   TOPO_DOM        1..151
FT                   /note="Nuclear"
FT                   /evidence="ECO:0000305"
FT   TRANSMEM        152..170
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        171..176
FT                   /note="Perinuclear space"
FT                   /evidence="ECO:0000305"
FT   REGION          59..150
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        59..75
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        94..108
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        109..127
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         1..49
FT                   /note="MSLKPFTYPFPETRFLHAGPNVYKFKIRYGKSIRGEEIENKEVITQELE ->
FT                   MKWFHENLSPGKPISDSPLGL (in isoform 2)"
FT                   /id="VSP_058060"
FT   VAR_SEQ         49
FT                   /note="E -> EDSVRVVLGNLDNLQPFATEHFIVFPYKSKWERVSHLKFKHGEIILI
FT                   PYPFVFTLYVEMKWFHENLSPGKPISDSPLGL (in isoform 1)"
FT                   /id="VSP_058061"
FT   VAR_SEQ         81..138
FT                   /note="AKIGTSSQGPSKKKPPVETRRNRERKTQQGLQETLASDITDVQKQDSEWGHS
FT                   LPGRIV -> IGKEKPNKDCRRLWPLISLMSRNKILSGDTACQGELSHPCSTTHLHLRS
FT                   EQPPASLGF (in isoform 1)"
FT                   /id="VSP_058062"
FT   VAR_SEQ         139..176
FT                   /note="Missing (in isoform 1)"
FT                   /id="VSP_058063"
FT   STRAND          8..10
FT                   /evidence="ECO:0007829|PDB:6GNX"
FT   STRAND          12..18
FT                   /evidence="ECO:0007829|PDB:6GNY"
FT   STRAND          21..29
FT                   /evidence="ECO:0007829|PDB:6GNY"
FT   HELIX           31..35
FT                   /evidence="ECO:0007829|PDB:6GNY"
FT   HELIX           41..49
FT                   /evidence="ECO:0007829|PDB:6GNY"
SQ   SEQUENCE   176 AA;  20078 MW;  EE818AC3BC07B190 CRC64;
     MSLKPFTYPF PETRFLHAGP NVYKFKIRYG KSIRGEEIEN KEVITQELEV PVEKKAVGAV
     MRKRKHMDEP SSPSRPGLDR AKIGTSSQGP SKKKPPVETR RNRERKTQQG LQETLASDIT
     DVQKQDSEWG HSLPGRIVPP LQHNSPPPKE RAATGFFGFL SSLFPFRYFF RKSSHS
//