ANR31_HUMAN
ID ANR31_HUMAN Reviewed; 1873 AA.
AC Q8N7Z5;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 08-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Ankyrin repeat domain-containing protein 31 {ECO:0000305};
GN Name=ANKRD31 {ECO:0000312|HGNC:HGNC:26853};
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 GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-725.
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).
CC -!- FUNCTION: Required for DNA double-strand breaks (DSBs) formation during
CC meiotic recombination. Regulates the spatial and temporal patterns of
CC pre-DSB recombinosome assembly and recombination activity by acting as
CC a scaffold that anchors REC114 and other factors to specific genomic
CC locations, thereby regulating DSB formation. Plays a key role in
CC recombination in the pseudoautosomal regions of sex chromosomes.
CC {ECO:0000250|UniProtKB:A0A140LI88}.
CC -!- SUBUNIT: Interacts with REC114; the interaction is direct. Interacts
CC with IHO1. {ECO:0000250|UniProtKB:A0A140LI88}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:A0A140LI88}.
CC Chromosome {ECO:0000250|UniProtKB:A0A140LI88}. Note=Localizes on
CC chromatin between preleptotene and early pachytene. Associates with the
CC chromosome axes, but disappears from axes upon synaptonemal complex
CC formation. {ECO:0000250|UniProtKB:A0A140LI88}.
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DR EMBL; AC008769; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC093259; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK097510; BAC05081.1; -; mRNA.
DR CCDS; CCDS47233.1; -.
DR RefSeq; NP_001157915.1; NM_001164443.1.
DR AlphaFoldDB; Q8N7Z5; -.
DR SMR; Q8N7Z5; -.
DR BioGRID; 129131; 4.
DR IntAct; Q8N7Z5; 4.
DR MINT; Q8N7Z5; -.
DR STRING; 9606.ENSP00000274361; -.
DR CarbonylDB; Q8N7Z5; -.
DR iPTMnet; Q8N7Z5; -.
DR PhosphoSitePlus; Q8N7Z5; -.
DR BioMuta; ANKRD31; -.
DR DMDM; 182627587; -.
DR MassIVE; Q8N7Z5; -.
DR PaxDb; Q8N7Z5; -.
DR PeptideAtlas; Q8N7Z5; -.
DR PRIDE; Q8N7Z5; -.
DR ProteomicsDB; 72350; -.
DR Antibodypedia; 48719; 5 antibodies from 5 providers.
DR DNASU; 256006; -.
DR Ensembl; ENST00000274361.3; ENSP00000274361.3; ENSG00000145700.10.
DR GeneID; 256006; -.
DR KEGG; hsa:256006; -.
DR UCSC; uc003kdo.2; human.
DR CTD; 256006; -.
DR DisGeNET; 256006; -.
DR GeneCards; ANKRD31; -.
DR HGNC; HGNC:26853; ANKRD31.
DR HPA; ENSG00000145700; Tissue enriched (testis).
DR MIM; 618423; gene.
DR neXtProt; NX_Q8N7Z5; -.
DR OpenTargets; ENSG00000145700; -.
DR PharmGKB; PA134879237; -.
DR VEuPathDB; HostDB:ENSG00000145700; -.
DR eggNOG; ENOG502QS0Y; Eukaryota.
DR GeneTree; ENSGT00940000162618; -.
DR HOGENOM; CLU_003348_0_0_1; -.
DR InParanoid; Q8N7Z5; -.
DR OrthoDB; 51193at2759; -.
DR PhylomeDB; Q8N7Z5; -.
DR TreeFam; TF326440; -.
DR PathwayCommons; Q8N7Z5; -.
DR SignaLink; Q8N7Z5; -.
DR BioGRID-ORCS; 256006; 11 hits in 926 CRISPR screens.
DR ChiTaRS; ANKRD31; human.
DR GenomeRNAi; 256006; -.
DR Pharos; Q8N7Z5; Tdark.
DR PRO; PR:Q8N7Z5; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q8N7Z5; protein.
DR Bgee; ENSG00000145700; Expressed in right testis and 63 other tissues.
DR ExpressionAtlas; Q8N7Z5; baseline and differential.
DR Genevisible; Q8N7Z5; HS.
DR GO; GO:0000785; C:chromatin; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0007129; P:homologous chromosome pairing at meiosis; ISS:UniProtKB.
DR GO; GO:0010780; P:meiotic DNA double-strand break formation involved in reciprocal meiotic recombination; ISS:UniProtKB.
DR GO; GO:1903343; P:positive regulation of meiotic DNA double-strand break formation; ISS:UniProtKB.
DR Gene3D; 1.25.40.20; -; 2.
DR InterPro; IPR042334; ANKRD31.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR040843; RAMA.
DR PANTHER; PTHR24176; PTHR24176; 2.
DR Pfam; PF00023; Ank; 2.
DR Pfam; PF12796; Ank_2; 1.
DR Pfam; PF18755; RAMA; 1.
DR PRINTS; PR01415; ANKYRIN.
DR SMART; SM00248; ANK; 6.
DR SUPFAM; SSF48403; SSF48403; 2.
DR PROSITE; PS50297; ANK_REP_REGION; 2.
DR PROSITE; PS50088; ANK_REPEAT; 5.
PE 2: Evidence at transcript level;
KW ANK repeat; Chromosome; DNA recombination; Meiosis; Nucleus;
KW Reference proteome; Repeat.
FT CHAIN 1..1873
FT /note="Ankyrin repeat domain-containing protein 31"
FT /id="PRO_0000328839"
FT REPEAT 488..517
FT /note="ANK 1"
FT REPEAT 521..550
FT /note="ANK 2"
FT REPEAT 554..583
FT /note="ANK 3"
FT REPEAT 1154..1183
FT /note="ANK 4"
FT REPEAT 1187..1216
FT /note="ANK 5"
FT REPEAT 1220..1249
FT /note="ANK 6"
FT DOMAIN 1683..1778
FT /note="RAMA"
FT /evidence="ECO:0000255"
FT REGION 1..27
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 361..380
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 707..740
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1242..1263
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1449..1482
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1512..1571
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1606..1634
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1449..1463
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1464..1482
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1514..1528
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1617..1634
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 702
FT /note="D -> N (in dbSNP:rs1422698)"
FT /id="VAR_042542"
FT VARIANT 758
FT /note="R -> G (in dbSNP:rs6893216)"
FT /id="VAR_042543"
FT VARIANT 1609
FT /note="D -> E (in dbSNP:rs961098)"
FT /id="VAR_042544"
FT VARIANT 1777
FT /note="R -> K (in dbSNP:rs4489037)"
FT /id="VAR_042545"
FT CONFLICT 444
FT /note="K -> R (in Ref. 2; BAC05081)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1873 AA; 210816 MW; 3491754C9B0923ED CRC64;
MEEGVQAPDW DSDETVIEGS VTESDLEEKE LPWRRLLFDQ DASLKSEFSL HPDTRGMCKG
MPSPEIQLGF KLREDLQEQM NKNKMMPVLS EDTILQSQDE TERNQALLQT RKNCSMFIGS
FRQSGLSLNH QNIEGPEAES PEVLPHIEKE LSEGRDSPEV SLLSGTAITV SDTVAVKETS
LVEPEKILAA PNTFFEPRKE VTMTMTSEET KDEESSLETF VSALESLLTS PESTQEERLF
ELVSDFDRKE LMNPLSDSLS SISIPLNSWS ACHRDLLEDA KDDALPAELL EALNTLSEAK
VETICHRKEG GSSLIARNEC LEVEFNTSQT NEDCTQIAET LQDPNPSGLQ TLAHQNITSC
EPLSNKRNSN SVTNSSDQET ACVLRRSSRL EKLKVSRDAK YSDHMYKMPE KILPKILGCE
DLTNNNSSAQ NFRMQDPALM IDGKEKNMHS ARFKNGKQIR KNEQFSGKKE KMKVNKISLH
SINRRNIFGE NLVYKAALHD DADLVHHCIK KGGNVNQPSY AGWTALHEAS VGGFYRTASE
LLKGGADVNI KGLYQITPLH DAVMNGHYKV AELLLLNGAD PLFRNDDGKC ALDEAKDLCM
KRLLERYIPK HQKCLTSAQR SSIDPLDIED VYQHKKPKFS SKSHIWHVYN ENSNRQKLEH
VKVNKGSKAS LFINKEDVYE YYQKDPKNTK FGKSKHKQST LDQIYSTGLR KGNLHNVKDP
NTNVPKGIGR RKTQHKRTQV DDVDCNPRKI LAVSPSRRIN RLVTYQQHIP ETHNDLPEEL
CEPSSLTLSS LRNGLDSSTE ACSVSKEKHI QNLDLSDSQE VQCLELESVD QTEAVSFPGL
LLHKEIKLPV VTTDKQPHTL QEQHHVLYKS HENSNLVPKD ERFNKWENSF LSFVKENSDN
DDDDDCSTSE KAITSKKVLC STGGKKHYNF KENLTNKKEM GFQQFLLSED HLSQENELKA
VSLTTLPEQE AVNFSYSDNA VISEHVANYE QCIFGPSFDH SNGNPEQNSL ACMRTLLTHE
ASKLTNHVEL FKKPQDYIPR APTFLMNQTD THIVEKMAKN CDTERNYIDR DQKIIYSNEP
LSIVAHSQVI ETTKVEKRRQ NHLESETIHN IDSHSTDNMS KELANISKLS QREKKEISHK
PGMKAGRINK RNARGESQLH LAVRRGNLPL VKALIESGAD VNLNDNAGWT PLHEASNEGS
IDIIVELLKA GAKVNCENID GILPLHDAVA NNHLKAAEIL LQNGANPNQK DQKQKSALDE
ADDEKMKELL RSYGAIETVN RDESDAIVNE KIPAVRSKRH KQCFCDDGKT IDSSSLSHQE
RSRESLSVHQ TLSAILQDIE EKQEYLLEFE IRNPEDAEQY IEKMLKIKKI MDNVLAKQKA
ERDDLAKKYR VSIESFKHGA LREQLANLAA RQKSLLVVAK KQKKISLKIQ NCRNVTSLPC
LSLRKLPPRS EISSEKDSQE LTSLENLEHP QSGSLSPVSG SMQETQLSLE TWNYSQNTNI
CLNSEAVRRG EFSGNDMNSK QNGSDCTLDG FPKSRHSDGT EKNKLPSQPV AFIGQTEYSQ
KENDLTEATD KDHEFYVSSP VIGKLNISET ASVLAENAAH PSNIICDQDL SNYDPKRGNR
KTSSQQSPTG ASESLAHQGI AVLGSDTVHQ MKPYLKKSVS VVPCADDSQI SSSSGSGQQD
TIKKALNYST APKKKCIQIK DLILLGRINP GNNILEFKTQ ETTHKASILL NGKLKVESGQ
IYKNPVTWLK DLLGGNSYVT WNYAWSKVTY LGKELLRYVS EDAPILPEPN SVPQQYQPCL
PEVACLDDPV QEPNKSMFEK TKFGQGTSRE SMQSSPRYLQ INEILLISDQ EFLPCHIMDQ
HWKFCVECEE LTP
