MAJIN_HUMAN
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 03-AUG-2022, entry version 112.
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; 9.
DR IntAct; Q3KP22; 8.
DR iPTMnet; Q3KP22; -.
DR PhosphoSitePlus; Q3KP22; -.
DR BioMuta; MAJIN; -.
DR jPOST; Q3KP22; -.
DR MassIVE; Q3KP22; -.
DR PaxDb; Q3KP22; -.
DR PeptideAtlas; Q3KP22; -.
DR PRIDE; Q3KP22; -.
DR ProteomicsDB; 22695; -.
DR ProteomicsDB; 61710; -. [Q3KP22-1]
DR Antibodypedia; 52613; 44 antibodies from 13 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 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; HCSKTIH; -.
DR OrthoDB; 1129208at2759; -.
DR TreeFam; TF336863; -.
DR PathwayCommons; Q3KP22; -.
DR SignaLink; Q3KP22; -.
DR SIGNOR; Q3KP22; -.
DR BioGRID-ORCS; 283129; 14 hits in 1041 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 109 other tissues.
DR ExpressionAtlas; Q3KP22; baseline and differential.
DR Genevisible; Q3KP22; HS.
DR GO; GO:0000781; C:chromosome, telomeric region; ISS:UniProtKB.
DR GO; GO:0005639; C:integral component of nuclear inner membrane; ISS:UniProtKB.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
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 InterPro; IPR027816; MAJIN.
DR PANTHER; PTHR35824; PTHR35824; 2.
DR Pfam; PF15077; MAJIN; 2.
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
