M1AP_HUMAN
ID M1AP_HUMAN Reviewed; 530 AA.
AC Q8TC57; B7Z6E7; E9PGG8; Q6ZP30; Q96L07;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Meiosis 1 arrest protein;
DE AltName: Full=Meiosis 1-arresting protein;
DE AltName: Full=Meiosis 1-associated protein;
DE AltName: Full=Spermatogenesis-associated protein 37;
GN Name=M1AP; Synonyms=C2orf65, SPATA37;
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] (ISOFORMS 3 AND 4).
RC TISSUE=Macrophage;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Testis;
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).
RN [5]
RP VARIANTS SPGF48 PRO-50; GLN-266; ARG-317; LEU-389 AND PRO-430, AND
RP FUNCTION.
RX PubMed=32673564; DOI=10.1016/j.ajhg.2020.06.010;
RG GEMINI Consortium;
RA Wyrwoll M.J., Temel S.G., Nagirnaja L., Oud M.S., Lopes A.M.,
RA van der Heijden G.W., Heald J.S., Rotte N., Wistuba J., Woeste M.,
RA Ledig S., Krenz H., Smits R.M., Carvalho F., Goncalves J., Fietz D.,
RA Tuerkgenc B., Ergoeren M.C., Cetinkaya M., Basar M., Kahraman S.,
RA McEleny K., Xavier M.J., Turner H., Pilatz A., Roepke A., Dugas M.,
RA Kliesch S., Neuhaus N., Aston K.I., Conrad D.F., Veltman J.A.,
RA Friedrich C., Tuettelmann F.;
RT "Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and
RT Severely Impaired Spermatogenesis Leading to Male Infertility.";
RL Am. J. Hum. Genet. 107:342-351(2020).
RN [6]
RP INVOLVEMENT IN SPGF48.
RX PubMed=32017041; DOI=10.1111/cge.13712;
RA Tu C., Wang Y., Nie H., Meng L., Wang W., Li Y., Li D., Zhang H., Lu G.,
RA Lin G., Tan Y.Q., Du J.;
RT "An M1AP homozygous splice-site mutation associated with severe
RT oligozoospermia in a consanguineous family.";
RL Clin. Genet. 97:741-746(2020).
CC -!- FUNCTION: Required for meiosis I progression during spermatogenesis.
CC {ECO:0000269|PubMed:32673564}.
CC -!- INTERACTION:
CC Q8TC57; Q8TBE0: BAHD1; NbExp=3; IntAct=EBI-748182, EBI-742750;
CC Q8TC57; O43186: CRX; NbExp=4; IntAct=EBI-748182, EBI-748171;
CC Q8TC57; Q2TBE0: CWF19L2; NbExp=3; IntAct=EBI-748182, EBI-5453285;
CC Q8TC57; P17661: DES; NbExp=3; IntAct=EBI-748182, EBI-1055572;
CC Q8TC57; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-748182, EBI-5916454;
CC Q8TC57; P20700: LMNB1; NbExp=3; IntAct=EBI-748182, EBI-968218;
CC Q8TC57; Q8TC57: M1AP; NbExp=4; IntAct=EBI-748182, EBI-748182;
CC Q8TC57; P32242: OTX1; NbExp=3; IntAct=EBI-748182, EBI-740446;
CC Q8TC57; P32243-2: OTX2; NbExp=3; IntAct=EBI-748182, EBI-9087860;
CC Q8TC57; Q9HB19: PLEKHA2; NbExp=6; IntAct=EBI-748182, EBI-4401947;
CC Q8TC57; Q9BT43: POLR3GL; NbExp=3; IntAct=EBI-748182, EBI-2855862;
CC Q8TC57; Q8IUQ4-2: SIAH1; NbExp=3; IntAct=EBI-748182, EBI-11522811;
CC Q8TC57; Q15645: TRIP13; NbExp=3; IntAct=EBI-748182, EBI-358993;
CC Q8TC57; O95164: UBL3; NbExp=3; IntAct=EBI-748182, EBI-12876508;
CC Q8TC57; Q8NDX6: ZNF740; NbExp=3; IntAct=EBI-748182, EBI-2602428;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q8TC57-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TC57-2; Sequence=VSP_035293, VSP_035294;
CC Name=3;
CC IsoId=Q8TC57-3; Sequence=VSP_035291, VSP_035292;
CC Name=4;
CC IsoId=Q8TC57-4; Sequence=VSP_055677;
CC -!- DISEASE: Spermatogenic failure 48 (SPGF48) [MIM:619108]: An autosomal
CC recessive infertility disorder caused by spermatogenesis defects
CC resulting in non-obstructive azoospermia. {ECO:0000269|PubMed:32017041,
CC ECO:0000269|PubMed:32673564}. Note=The disease may be caused by
CC variants affecting the gene represented in this entry.
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DR EMBL; AK130161; BAC85295.1; -; mRNA.
DR EMBL; AK300188; BAH13233.1; -; mRNA.
DR EMBL; AC005033; AAX93225.1; -; Genomic_DNA.
DR EMBL; AC007387; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471053; EAW99611.1; -; Genomic_DNA.
DR EMBL; BC014602; AAH14602.1; -; mRNA.
DR EMBL; BC025997; AAH25997.1; -; mRNA.
DR CCDS; CCDS33229.1; -. [Q8TC57-1]
DR CCDS; CCDS62941.1; -. [Q8TC57-4]
DR RefSeq; NP_001268224.1; NM_001281295.1. [Q8TC57-2]
DR RefSeq; NP_001268225.1; NM_001281296.1. [Q8TC57-4]
DR RefSeq; NP_001308668.1; NM_001321739.1. [Q8TC57-1]
DR RefSeq; NP_620159.2; NM_138804.4. [Q8TC57-1]
DR RefSeq; XP_011530852.1; XM_011532550.2. [Q8TC57-1]
DR RefSeq; XP_011530853.1; XM_011532551.2. [Q8TC57-1]
DR AlphaFoldDB; Q8TC57; -.
DR BioGRID; 126265; 24.
DR IntAct; Q8TC57; 15.
DR STRING; 9606.ENSP00000290536; -.
DR iPTMnet; Q8TC57; -.
DR PhosphoSitePlus; Q8TC57; -.
DR BioMuta; M1AP; -.
DR DMDM; 74730556; -.
DR MassIVE; Q8TC57; -.
DR PaxDb; Q8TC57; -.
DR PeptideAtlas; Q8TC57; -.
DR PRIDE; Q8TC57; -.
DR ProteomicsDB; 20319; -.
DR ProteomicsDB; 74090; -. [Q8TC57-1]
DR ProteomicsDB; 74091; -. [Q8TC57-2]
DR ProteomicsDB; 74092; -. [Q8TC57-3]
DR Antibodypedia; 49889; 38 antibodies from 13 providers.
DR DNASU; 130951; -.
DR Ensembl; ENST00000290536.9; ENSP00000290536.5; ENSG00000159374.18. [Q8TC57-1]
DR Ensembl; ENST00000409585.5; ENSP00000386793.1; ENSG00000159374.18. [Q8TC57-4]
DR Ensembl; ENST00000421985.2; ENSP00000414882.2; ENSG00000159374.18. [Q8TC57-1]
DR Ensembl; ENST00000536235.5; ENSP00000445662.1; ENSG00000159374.18. [Q8TC57-4]
DR GeneID; 130951; -.
DR KEGG; hsa:130951; -.
DR MANE-Select; ENST00000421985.2; ENSP00000414882.2; NM_001321739.2; NP_001308668.1.
DR UCSC; uc002smy.3; human. [Q8TC57-1]
DR CTD; 130951; -.
DR DisGeNET; 130951; -.
DR GeneCards; M1AP; -.
DR HGNC; HGNC:25183; M1AP.
DR HPA; ENSG00000159374; Tissue enhanced (testis).
DR MalaCards; M1AP; -.
DR MIM; 619098; gene.
DR MIM; 619108; phenotype.
DR neXtProt; NX_Q8TC57; -.
DR OpenTargets; ENSG00000159374; -.
DR PharmGKB; PA162379401; -.
DR VEuPathDB; HostDB:ENSG00000159374; -.
DR eggNOG; ENOG502QT91; Eukaryota.
DR GeneTree; ENSGT00390000005656; -.
DR HOGENOM; CLU_038694_0_0_1; -.
DR InParanoid; Q8TC57; -.
DR OMA; STYNPLQ; -.
DR OrthoDB; 1323138at2759; -.
DR PhylomeDB; Q8TC57; -.
DR TreeFam; TF329502; -.
DR PathwayCommons; Q8TC57; -.
DR SignaLink; Q8TC57; -.
DR BioGRID-ORCS; 130951; 18 hits in 1072 CRISPR screens.
DR GenomeRNAi; 130951; -.
DR Pharos; Q8TC57; Tdark.
DR PRO; PR:Q8TC57; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8TC57; protein.
DR Bgee; ENSG00000159374; Expressed in bone marrow cell and 93 other tissues.
DR ExpressionAtlas; Q8TC57; baseline and differential.
DR Genevisible; Q8TC57; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0031497; P:chromatin assembly; NAS:UniProtKB.
DR GO; GO:0007292; P:female gamete generation; ISS:UniProtKB.
DR GO; GO:0051308; P:male meiosis chromosome separation; ISS:UniProtKB.
DR GO; GO:0007127; P:meiosis I; IEA:InterPro.
DR GO; GO:0006396; P:RNA processing; NAS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; IMP:UniProtKB.
DR InterPro; IPR033587; M1AP.
DR PANTHER; PTHR28642; PTHR28642; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Differentiation; Disease variant;
KW Reference proteome; Spermatogenesis.
FT CHAIN 1..530
FT /note="Meiosis 1 arrest protein"
FT /id="PRO_0000349268"
FT REGION 463..530
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..282
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035291"
FT VAR_SEQ 359..427
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_035292"
FT VAR_SEQ 359..365
FT /note="KREWLLL -> VSTHVPR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035293"
FT VAR_SEQ 366..530
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035294"
FT VAR_SEQ 474..477
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055677"
FT VARIANT 5
FT /note="R -> Q (in dbSNP:rs3025980)"
FT /id="VAR_046335"
FT VARIANT 50
FT /note="S -> P (in SPGF48; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:32673564"
FT /id="VAR_085687"
FT VARIANT 195
FT /note="T -> P (in dbSNP:rs7602159)"
FT /id="VAR_046336"
FT VARIANT 266
FT /note="R -> Q (in SPGF48; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:32673564"
FT /id="VAR_085688"
FT VARIANT 317
FT /note="G -> R (in SPGF48; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:32673564"
FT /id="VAR_085689"
FT VARIANT 389
FT /note="P -> L (in SPGF48; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:32673564"
FT /id="VAR_085690"
FT VARIANT 430
FT /note="L -> P (in SPGF48; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:32673564"
FT /id="VAR_085691"
FT CONFLICT 359
FT /note="K -> E (in Ref. 1; BAH13233)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 530 AA; 59386 MW; 14FF53B1F34E1884 CRC64;
MHPGRTTGKG PSTHTQIDQQ PPRLLIVHIA LPSWADICTN LCEALQNFFS LACSLMGPSR
MSLFSLYMVQ DQHECILPFV QVKGNFARLQ TCISELRMLQ REGCFRSQGA SLRLAVEDGL
QQFKQYSRHV TTRAALTYTS LEITILTSQP GKEVVKQLEE GLKDTDLARV RRFQVVEVTK
GILEHVDSAS PVEDTSNDES SILGTDIDLQ TIDNDIVSME IFFKAWLHNS GTDQEQIHLL
LSSQCFSNIS RPRDNPMCLK CDLQERLLCP SLLAGTADGS LRMDDPKGDF ITLYQMASQS
SASHYKLQVI KALKSSGLCE SLTYGLPFIL RPTSCWQLDW DELETNQQHF HALCHSLLKR
EWLLLAKGEP PGPGHSQRIP ASTFYVIMPS HSLTLLVKAV ATRELMLPST FPLLPEDPHD
DSLKNVESML DSLELEPTYN PLHVQSHLYS HLSSIYAKPQ GRLHPHWESR APRKHPCKTG
QLQTNRARAT VAPLPMTPVP GRASKMPAAS KSSSDAFFLP SEWEKDPSRP
