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HORMA domain-containing protein 1 (Cancer/testis antigen 46) (CT46) (Newborn ovary HORMA protein)

 HORM1_HUMAN             Reviewed;         394 AA.
Q86X24; A6NMK2; B3KUK1; Q4G114; Q5T5I3; Q5T5I4; Q5T5I5; Q6FIC1;
Q9H0K8;
17-APR-2007, integrated into UniProtKB/Swiss-Prot.
01-JUN-2003, sequence version 1.
25-OCT-2017, entry version 116.
RecName: Full=HORMA domain-containing protein 1 {ECO:0000304|HGNC:HGNC:25245};
AltName: Full=Cancer/testis antigen 46 {ECO:0000319|PubMed:15999985};
Short=CT46 {ECO:0000319|PubMed:15999985};
AltName: Full=Newborn ovary HORMA protein {ECO:0000319|PubMed:15567723};
Name=HORMAD1 {ECO:0000304|HGNC:HGNC:25245};
Synonyms=NOHMA {ECO:0000319|PubMed:15567723};
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
PubMed=15567723; DOI=10.1016/j.modgep.2004.07.008;
Pangas S.A., Yan W., Matzuk M.M., Rajkovic A.;
"Restricted germ cell expression of a gene encoding a novel mammalian
HORMA domain-containing protein.";
Gene Expr. Patterns 5:257-263(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Testis;
PubMed=11230166; DOI=10.1101/gr.GR1547R;
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H.,
Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N.,
Mewes H.-W., Ottenwaelder B., Obermaier B., Tampe J., Heubner D.,
Wambutt R., Korn B., Klein M., Poustka A.;
"Towards a catalog of human genes and proteins: sequencing and
analysis of 500 novel complete protein coding human cDNAs.";
Genome Res. 11:422-435(2001).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
"Cloning of human full open reading frames in Gateway(TM) system entry
vector (pDONR201).";
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Testis;
PubMed=14702039; DOI=10.1038/ng1285;
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.,
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16710414; DOI=10.1038/nature04727;
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
Beck S., Rogers J., Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4), AND VARIANT
ILE-267.
TISSUE=Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[8]
IDENTIFICATION (ISOFORMS 1 AND 3), AND TISSUE SPECIFICITY.
PubMed=15999985;
Chen Y.-T., Venditti C.A., Theiler G., Stevenson B.J., Iseli C.,
Gure A.O., Jongeneel C.V., Old L.J., Simpson A.J.G.;
"Identification of CT46/HORMAD1, an immunogenic cancer/testis antigen
encoding a putative meiosis-related protein.";
Cancer Immun. 5:9-9(2005).
-!- FUNCTION: Plays a key role in meiotic progression. Regulates 3
different functions during meiosis: ensures that sufficient
numbers of processed DNA double-strand breaks (DSBs) are available
for successful homology search by increasing the steady-state
numbers of single-stranded DSB ends. Promotes synaptonemal-complex
formation independently of its role in homology search. Plays a
key role in the male mid-pachytene checkpoint and the female
meiotic prophase checkpoint: required for efficient build-up of
ATR activity on unsynapsed chromosome regions, a process believed
to form the basis of meiotic silencing of unsynapsed chromatin
(MSUC) and meiotic prophase quality control in both sexes.
{ECO:0007001|UniProtKB:Q9D5T7}.
-!- SUBUNIT: Interacts with HORMAD2. Interacts with IHO1/CCDC36.
{ECO:0007001|UniProtKB:Q9D5T7}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0007001|UniProtKB:Q9D5T7}.
Chromosome {ECO:0007001|UniProtKB:Q9D5T7}. Note=Preferentially
localizes to unsynapsed or desynapsed chromosomal regions during
the prophase I stage of meiosis. TRIP13 is required for depletion
from synapsed chromosomes. The expression of the phosphorylated
form at Ser-377 is restricted to unsynapsed chromosomal regions
(By similarity). {ECO:0007001|UniProtKB:Q9D5T7}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=5;
Name=1; Synonyms=HORMAD1L;
IsoId=Q86X24-1; Sequence=Displayed;
Name=2;
IsoId=Q86X24-2; Sequence=VSP_024602;
Name=3;
IsoId=Q86X24-3; Sequence=VSP_024600, VSP_024601;
Name=4;
IsoId=Q86X24-4; Sequence=VSP_024600, VSP_024601, VSP_024603;
Name=5;
IsoId=Q86X24-5; Sequence=VSP_024600, VSP_024601, VSP_024602;
-!- TISSUE SPECIFICITY: Testis-specific. Over-expressed in carcinomas.
{ECO:0000269|PubMed:15999985}.
-!- PTM: Phosphorylated at Ser-377 in a SPO11-dependent manner.
{ECO:0007001|UniProtKB:Q9D5T7}.
-!- SEQUENCE CAUTION:
Sequence=AAH33014.1; Type=Frameshift; Positions=89; Evidence={ECO:0000320};
-----------------------------------------------------------------------
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EMBL; AY626344; AAT45740.1; -; mRNA.
EMBL; AL136755; CAB66689.1; -; mRNA.
EMBL; CR533505; CAG38536.1; -; mRNA.
EMBL; AK097390; BAG53463.1; -; mRNA.
EMBL; AL356292; CAI13652.1; -; Genomic_DNA.
EMBL; AL356292; CAI13653.1; -; Genomic_DNA.
EMBL; AL356292; CAI13654.1; -; Genomic_DNA.
EMBL; AL356292; CAI13655.1; -; Genomic_DNA.
EMBL; AL356292; CAI13656.1; -; Genomic_DNA.
EMBL; CH471121; EAW53523.1; -; Genomic_DNA.
EMBL; BC033014; AAH33014.1; ALT_FRAME; mRNA.
EMBL; BC047406; AAH47406.1; -; mRNA.
CCDS; CCDS55633.1; -. [Q86X24-2]
CCDS; CCDS967.1; -. [Q86X24-1]
RefSeq; NP_001186758.1; NM_001199829.1. [Q86X24-2]
RefSeq; NP_115508.2; NM_032132.4. [Q86X24-1]
RefSeq; XP_006711633.1; XM_006711570.2. [Q86X24-3]
RefSeq; XP_006711634.1; XM_006711571.2. [Q86X24-5]
RefSeq; XP_011508355.1; XM_011510053.2. [Q86X24-1]
UniGene; Hs.298312; -.
ProteinModelPortal; Q86X24; -.
SMR; Q86X24; -.
BioGrid; 123867; 2.
IntAct; Q86X24; 2.
MINT; MINT-4718808; -.
STRING; 9606.ENSP00000355167; -.
iPTMnet; Q86X24; -.
PhosphoSitePlus; Q86X24; -.
BioMuta; HORMAD1; -.
DMDM; 74750516; -.
MaxQB; Q86X24; -.
PaxDb; Q86X24; -.
PeptideAtlas; Q86X24; -.
PRIDE; Q86X24; -.
DNASU; 84072; -.
Ensembl; ENST00000322343; ENSP00000326489; ENSG00000143452. [Q86X24-2]
Ensembl; ENST00000361824; ENSP00000355167; ENSG00000143452. [Q86X24-1]
Ensembl; ENST00000368995; ENSP00000357991; ENSG00000143452. [Q86X24-4]
GeneID; 84072; -.
KEGG; hsa:84072; -.
UCSC; uc001evk.3; human. [Q86X24-1]
CTD; 84072; -.
DisGeNET; 84072; -.
EuPathDB; HostDB:ENSG00000143452.15; -.
GeneCards; HORMAD1; -.
HGNC; HGNC:25245; HORMAD1.
HPA; HPA028346; -.
HPA; HPA037850; -.
MIM; 609824; gene.
neXtProt; NX_Q86X24; -.
OpenTargets; ENSG00000143452; -.
PharmGKB; PA134930374; -.
eggNOG; KOG4652; Eukaryota.
eggNOG; ENOG410XT4N; LUCA.
GeneTree; ENSGT00390000018130; -.
HOVERGEN; HBG074209; -.
InParanoid; Q86X24; -.
OMA; KYLRMVV; -.
OrthoDB; EOG091G0F8O; -.
PhylomeDB; Q86X24; -.
TreeFam; TF313989; -.
ChiTaRS; HORMAD1; human.
GeneWiki; HORMAD1; -.
GenomeRNAi; 84072; -.
PRO; PR:Q86X24; -.
Proteomes; UP000005640; Chromosome 1.
Bgee; ENSG00000143452; -.
CleanEx; HS_HORMAD1; -.
ExpressionAtlas; Q86X24; baseline and differential.
Genevisible; Q86X24; HS.
GO; GO:0005694; C:chromosome; HMP:UniProtKB.
GO; GO:0005634; C:nucleus; HTP:LIFEdb.
GO; GO:0000795; C:synaptonemal complex; RCA:Ensembl.
GO; GO:0001824; P:blastocyst development; HMP:UniProtKB.
GO; GO:0051321; P:meiotic cell cycle; HMP:UniProtKB.
GO; GO:0042138; P:meiotic DNA double-strand break formation; HMP:UniProtKB.
GO; GO:0051598; P:meiotic recombination checkpoint; HMP:UniProtKB.
GO; GO:0051177; P:meiotic sister chromatid cohesion; HMP:UniProtKB.
GO; GO:0048477; P:oogenesis; HMP:UniProtKB.
GO; GO:0060629; P:regulation of homologous chromosome segregation; HMP:UniProtKB.
GO; GO:0007283; P:spermatogenesis; HMP:UniProtKB.
GO; GO:0007130; P:synaptonemal complex assembly; HMP:UniProtKB.
Gene3D; 3.30.900.10; -; 1.
InterPro; IPR003511; HORMA_dom.
InterPro; IPR036570; HORMA_dom_sf.
Pfam; PF02301; HORMA; 1.
SUPFAM; SSF56019; SSF56019; 1.
PROSITE; PS50815; HORMA; 1.
2: Evidence at transcript level;
Alternative splicing; Chromosome; Complete proteome; Differentiation;
Meiosis; Nucleus; Oogenesis; Phosphoprotein; Polymorphism;
Reference proteome; Spermatogenesis.
CHAIN 1 394 HORMA domain-containing protein 1.
/FTId=PRO_0000284664.
DOMAIN 24 226 HORMA. {ECO:0000270|PROSITE-
ProRule:PRU00109}.
MOTIF 383 386 Nuclear localization signal.
{ECO:0000320}.
MOD_RES 376 376 Phosphoserine.
{ECO:0007001|UniProtKB:Q9D5T7}.
VAR_SEQ 1 71 Missing (in isoform 3, isoform 4 and
isoform 5).
{ECO:0000319|PubMed:15489334}.
/FTId=VSP_024600.
VAR_SEQ 72 80 CPGSTQLVK -> MRLWNKISR (in isoform 3,
isoform 4 and isoform 5).
{ECO:0000319|PubMed:15489334}.
/FTId=VSP_024601.
VAR_SEQ 94 100 Missing (in isoform 2 and isoform 5).
{ECO:0000319|PubMed:11230166,
ECO:0000319|PubMed:15567723,
ECO:0000319|Ref.3}.
/FTId=VSP_024602.
VAR_SEQ 101 109 Missing (in isoform 4).
{ECO:0000319|PubMed:15489334}.
/FTId=VSP_024603.
VARIANT 267 267 T -> I (in dbSNP:rs1336900).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_031801.
CONFLICT 225 225 K -> E (in Ref. 7; AAH33014).
{ECO:0000320}.
CONFLICT 264 264 E -> G (in Ref. 1; CAG38536).
{ECO:0000320}.
CONFLICT 305 305 K -> E (in Ref. 1; CAG38536).
{ECO:0000320}.
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


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