HORM1_HUMAN
ID HORM1_HUMAN Reviewed; 394 AA.
AC Q86X24; A6NMK2; B3KUK1; Q4G114; Q5T5I3; Q5T5I4; Q5T5I5; Q6FIC1; Q9H0K8;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=HORMA domain-containing protein 1 {ECO:0000312|HGNC:HGNC:25245};
DE AltName: Full=Cancer/testis antigen 46 {ECO:0000303|PubMed:15999985};
DE Short=CT46 {ECO:0000303|PubMed:15999985};
DE AltName: Full=Newborn ovary HORMA protein {ECO:0000303|PubMed:15567723};
GN Name=HORMAD1 {ECO:0000312|HGNC:HGNC:25245};
GN Synonyms=NOHMA {ECO:0000303|PubMed:15567723};
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 [MRNA] (ISOFORM 2).
RX PubMed=15567723; DOI=10.1016/j.modgep.2004.07.008;
RA Pangas S.A., Yan W., Matzuk M.M., Rajkovic A.;
RT "Restricted germ cell expression of a gene encoding a novel mammalian HORMA
RT domain-containing protein.";
RL Gene Expr. Patterns 5:257-263(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [6]
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4), AND VARIANT
RP ILE-267.
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 [8]
RP IDENTIFICATION (ISOFORMS 1 AND 3), AND TISSUE SPECIFICITY.
RX PubMed=15999985;
RA Chen Y.-T., Venditti C.A., Theiler G., Stevenson B.J., Iseli C., Gure A.O.,
RA Jongeneel C.V., Old L.J., Simpson A.J.G.;
RT "Identification of CT46/HORMAD1, an immunogenic cancer/testis antigen
RT encoding a putative meiosis-related protein.";
RL Cancer Immun. 5:9-9(2005).
CC -!- FUNCTION: Plays a key role in meiotic progression. Regulates 3
CC different functions during meiosis: ensures that sufficient numbers of
CC processed DNA double-strand breaks (DSBs) are available for successful
CC homology search by increasing the steady-state numbers of single-
CC stranded DSB ends. Promotes synaptonemal-complex formation
CC independently of its role in homology search. Plays a key role in the
CC male mid-pachytene checkpoint and the female meiotic prophase
CC checkpoint: required for efficient build-up of ATR activity on
CC unsynapsed chromosome regions, a process believed to form the basis of
CC meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase
CC quality control in both sexes. {ECO:0000250|UniProtKB:Q9D5T7}.
CC -!- SUBUNIT: Interacts with HORMAD2. Interacts with IHO1.
CC {ECO:0000250|UniProtKB:Q9D5T7}.
CC -!- INTERACTION:
CC Q86X24; Q9UHG0: DCDC2; NbExp=3; IntAct=EBI-12165207, EBI-10303987;
CC Q86X24; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-12165207, EBI-16439278;
CC Q86X24; Q9HB07: MYG1; NbExp=3; IntAct=EBI-12165207, EBI-709754;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9D5T7}.
CC Chromosome {ECO:0000250|UniProtKB:Q9D5T7}. Note=Preferentially
CC localizes to unsynapsed or desynapsed chromosomal regions during the
CC prophase I stage of meiosis. TRIP13 is required for depletion from
CC synapsed chromosomes. The expression of the phosphorylated form at Ser-
CC 377 is restricted to unsynapsed chromosomal regions (By similarity).
CC {ECO:0000250|UniProtKB:Q9D5T7}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1; Synonyms=HORMAD1L;
CC IsoId=Q86X24-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86X24-2; Sequence=VSP_024602;
CC Name=3;
CC IsoId=Q86X24-3; Sequence=VSP_024600, VSP_024601;
CC Name=4;
CC IsoId=Q86X24-4; Sequence=VSP_024600, VSP_024601, VSP_024603;
CC Name=5;
CC IsoId=Q86X24-5; Sequence=VSP_024600, VSP_024601, VSP_024602;
CC -!- TISSUE SPECIFICITY: Testis-specific. Over-expressed in carcinomas.
CC {ECO:0000269|PubMed:15999985}.
CC -!- PTM: Phosphorylated at Ser-377 in a SPO11-dependent manner.
CC {ECO:0000250|UniProtKB:Q9D5T7}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH33014.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AY626344; AAT45740.1; -; mRNA.
DR EMBL; AL136755; CAB66689.1; -; mRNA.
DR EMBL; CR533505; CAG38536.1; -; mRNA.
DR EMBL; AK097390; BAG53463.1; -; mRNA.
DR EMBL; AL356292; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471121; EAW53523.1; -; Genomic_DNA.
DR EMBL; BC033014; AAH33014.1; ALT_FRAME; mRNA.
DR EMBL; BC047406; AAH47406.1; -; mRNA.
DR CCDS; CCDS55633.1; -. [Q86X24-2]
DR CCDS; CCDS967.1; -. [Q86X24-1]
DR RefSeq; NP_001186758.1; NM_001199829.1. [Q86X24-2]
DR RefSeq; NP_115508.2; NM_032132.4. [Q86X24-1]
DR RefSeq; XP_006711633.1; XM_006711570.2.
DR RefSeq; XP_006711634.1; XM_006711571.2.
DR RefSeq; XP_011508355.1; XM_011510053.2.
DR AlphaFoldDB; Q86X24; -.
DR SMR; Q86X24; -.
DR BioGRID; 123867; 7.
DR IntAct; Q86X24; 4.
DR STRING; 9606.ENSP00000355167; -.
DR iPTMnet; Q86X24; -.
DR PhosphoSitePlus; Q86X24; -.
DR BioMuta; HORMAD1; -.
DR DMDM; 74750516; -.
DR jPOST; Q86X24; -.
DR MassIVE; Q86X24; -.
DR MaxQB; Q86X24; -.
DR PaxDb; Q86X24; -.
DR PeptideAtlas; Q86X24; -.
DR PRIDE; Q86X24; -.
DR ProteomicsDB; 70223; -. [Q86X24-1]
DR ProteomicsDB; 70224; -. [Q86X24-2]
DR ProteomicsDB; 70225; -. [Q86X24-3]
DR ProteomicsDB; 70226; -. [Q86X24-4]
DR ProteomicsDB; 70227; -. [Q86X24-5]
DR Antibodypedia; 34037; 204 antibodies from 25 providers.
DR DNASU; 84072; -.
DR Ensembl; ENST00000322343.11; ENSP00000326489.7; ENSG00000143452.16. [Q86X24-2]
DR Ensembl; ENST00000361824.7; ENSP00000355167.2; ENSG00000143452.16. [Q86X24-1]
DR Ensembl; ENST00000368995.8; ENSP00000357991.4; ENSG00000143452.16. [Q86X24-4]
DR GeneID; 84072; -.
DR KEGG; hsa:84072; -.
DR MANE-Select; ENST00000361824.7; ENSP00000355167.2; NM_032132.5; NP_115508.2.
DR UCSC; uc001evk.3; human. [Q86X24-1]
DR CTD; 84072; -.
DR DisGeNET; 84072; -.
DR GeneCards; HORMAD1; -.
DR HGNC; HGNC:25245; HORMAD1.
DR HPA; ENSG00000143452; Tissue enriched (testis).
DR MIM; 609824; gene.
DR neXtProt; NX_Q86X24; -.
DR OpenTargets; ENSG00000143452; -.
DR PharmGKB; PA134930374; -.
DR VEuPathDB; HostDB:ENSG00000143452; -.
DR eggNOG; KOG4652; Eukaryota.
DR GeneTree; ENSGT00390000018130; -.
DR HOGENOM; CLU_058638_1_0_1; -.
DR InParanoid; Q86X24; -.
DR OMA; GNCEGVI; -.
DR PhylomeDB; Q86X24; -.
DR TreeFam; TF313989; -.
DR PathwayCommons; Q86X24; -.
DR SignaLink; Q86X24; -.
DR BioGRID-ORCS; 84072; 8 hits in 1029 CRISPR screens.
DR ChiTaRS; HORMAD1; human.
DR GeneWiki; HORMAD1; -.
DR GenomeRNAi; 84072; -.
DR Pharos; Q86X24; Tbio.
DR PRO; PR:Q86X24; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q86X24; protein.
DR Bgee; ENSG00000143452; Expressed in adult organism and 103 other tissues.
DR ExpressionAtlas; Q86X24; baseline and differential.
DR Genevisible; Q86X24; HS.
DR GO; GO:0005694; C:chromosome; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:LIFEdb.
DR GO; GO:0000795; C:synaptonemal complex; IEA:Ensembl.
DR GO; GO:0001824; P:blastocyst development; ISS:UniProtKB.
DR GO; GO:0051321; P:meiotic cell cycle; ISS:UniProtKB.
DR GO; GO:0042138; P:meiotic DNA double-strand break formation; ISS:UniProtKB.
DR GO; GO:0051598; P:meiotic recombination checkpoint signaling; ISS:UniProtKB.
DR GO; GO:0051177; P:meiotic sister chromatid cohesion; ISS:UniProtKB.
DR GO; GO:0048477; P:oogenesis; ISS:UniProtKB.
DR GO; GO:0060629; P:regulation of homologous chromosome segregation; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR GO; GO:0007130; P:synaptonemal complex assembly; ISS:UniProtKB.
DR Gene3D; 3.30.900.10; -; 1.
DR InterPro; IPR003511; HORMA_dom.
DR InterPro; IPR036570; HORMA_dom_sf.
DR Pfam; PF02301; HORMA; 1.
DR SUPFAM; SSF56019; SSF56019; 1.
DR PROSITE; PS50815; HORMA; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromosome; Differentiation; Meiosis; Nucleus;
KW Oogenesis; Phosphoprotein; Reference proteome; Spermatogenesis.
FT CHAIN 1..394
FT /note="HORMA domain-containing protein 1"
FT /id="PRO_0000284664"
FT DOMAIN 24..226
FT /note="HORMA"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00109"
FT REGION 253..394
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 383..386
FT /note="Nuclear localization signal"
FT /evidence="ECO:0000305"
FT COMPBIAS 253..286
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 308..327
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 334..352
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 353..370
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 377..394
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 376
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9D5T7"
FT VAR_SEQ 1..71
FT /note="Missing (in isoform 3, isoform 4 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024600"
FT VAR_SEQ 72..80
FT /note="CPGSTQLVK -> MRLWNKISR (in isoform 3, isoform 4 and
FT isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024601"
FT VAR_SEQ 94..100
FT /note="Missing (in isoform 2 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:11230166,
FT ECO:0000303|PubMed:15567723, ECO:0000303|Ref.3"
FT /id="VSP_024602"
FT VAR_SEQ 101..109
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024603"
FT VARIANT 267
FT /note="T -> I (in dbSNP:rs1336900)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031801"
FT CONFLICT 225
FT /note="K -> E (in Ref. 7; AAH33014)"
FT /evidence="ECO:0000305"
FT CONFLICT 264
FT /note="E -> G (in Ref. 1; CAG38536)"
FT /evidence="ECO:0000305"
FT CONFLICT 305
FT /note="K -> E (in Ref. 1; CAG38536)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 394 AA; 45200 MW; 1025FFA4E0041A0C CRC64;
MATAQLQRTP MSALVFPNKI STEHQSLVLV KRLLAVSVSC ITYLRGIFPE CAYGTRYLDD
LCVKILREDK NCPGSTQLVK WMLGCYDALQ KKYLRMVVLA VYTNPEDPQT ISECYQFKFK
YTNNGPLMDF ISKNQSNESS MLSTDTKKAS ILLIRKIYIL MQNLGPLPND VCLTMKLFYY
DEVTPPDYQP PGFKDGDCEG VIFEGEPMYL NVGEVSTPFH IFKVKVTTER ERMENIDSTI
LSPKQIKTPF QKILRDKDVE DEQEHYTSDD LDIETKMEEQ EKNPASSELE EPSLVCEEDE
IMRSKESPDL SISHSQVEQL VNKTSELDMS ESKTRSGKVF QNKMANGNQP VKSSKENRKR
SQHESGRIVL HHFDSSSQES VPKRRKFSEP KEHI
