UniProtKB - Q8N7Z5 (ANR31_HUMAN)
Protein
Ankyrin repeat domain-containing protein 31
Gene
ANKRD31
Organism
Homo sapiens (Human)
Status
Functioni
Required for DNA double-strand breaks (DSBs) formation during meiotic recombination. Regulates the spatial and temporal patterns of pre-DSB recombinosome assembly and recombination activity by acting as a scaffold that anchors REC114 and other factors to specific genomic locations, thereby regulating DSB formation. Plays a key role in recombination in the pseudoautosomal regions of sex chromosomes.By similarity
GO - Biological processi
- homologous chromosome pairing at meiosis Source: UniProtKB
- meiotic DNA double-strand break formation involved in reciprocal meiotic recombination Source: UniProtKB
- positive regulation of meiotic DNA double-strand break formation Source: UniProtKB
Keywordsi
Biological process | DNA recombination, Meiosis |
Enzyme and pathway databases
PathwayCommonsi | Q8N7Z5 |
Names & Taxonomyi
Protein namesi | Recommended name: Ankyrin repeat domain-containing protein 31Curated |
Gene namesi | Name:ANKRD31Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000145700.9 |
HGNCi | HGNC:26853, ANKRD31 |
MIMi | 618423, gene |
neXtProti | NX_Q8N7Z5 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Other locations
- Chromosome By similarity
Note: Localizes on chromatin between preleptotene and early pachytene. Associates with the chromosome axes, but disapears from axes upon synaptonemal complex formation.By similarity
Keywords - Cellular componenti
Chromosome, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 256006 |
OpenTargetsi | ENSG00000145700 |
PharmGKBi | PA134879237 |
Miscellaneous databases
Pharosi | Q8N7Z5, Tdark |
Polymorphism and mutation databases
BioMutai | ANKRD31 |
DMDMi | 182627587 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000328839 | 1 – 1873 | Ankyrin repeat domain-containing protein 31Add BLAST | 1873 |
Proteomic databases
PaxDbi | Q8N7Z5 |
PeptideAtlasi | Q8N7Z5 |
PRIDEi | Q8N7Z5 |
ProteomicsDBi | 72350 |
PTM databases
CarbonylDBi | Q8N7Z5 |
iPTMneti | Q8N7Z5 |
PhosphoSitePlusi | Q8N7Z5 |
Expressioni
Gene expression databases
Bgeei | ENSG00000145700, Expressed in testis and 58 other tissues |
ExpressionAtlasi | Q8N7Z5, baseline and differential |
Genevisiblei | Q8N7Z5, HS |
Organism-specific databases
HPAi | ENSG00000145700, Tissue enhanced (pituitary gland, testis) |
Interactioni
Subunit structurei
Interacts with REC114; the interaction is direct.
Interacts with IHO1.
By similarityProtein-protein interaction databases
IntActi | Q8N7Z5, 3 interactors |
MINTi | Q8N7Z5 |
STRINGi | 9606.ENSP00000274361 |
Miscellaneous databases
RNActi | Q8N7Z5, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 488 – 517 | ANK 1Add BLAST | 30 | |
Repeati | 521 – 550 | ANK 2Add BLAST | 30 | |
Repeati | 554 – 583 | ANK 3Add BLAST | 30 | |
Repeati | 1154 – 1183 | ANK 4Add BLAST | 30 | |
Repeati | 1187 – 1216 | ANK 5Add BLAST | 30 | |
Repeati | 1220 – 1249 | ANK 6Add BLAST | 30 | |
Domaini | 1683 – 1778 | RAMASequence analysisAdd BLAST | 96 |
Keywords - Domaini
ANK repeat, RepeatPhylogenomic databases
eggNOGi | ENOG502QS0Y, Eukaryota |
GeneTreei | ENSGT00940000162618 |
HOGENOMi | CLU_003348_0_0_1 |
InParanoidi | Q8N7Z5 |
OrthoDBi | 51193at2759 |
PhylomeDBi | Q8N7Z5 |
TreeFami | TF326440 |
Family and domain databases
Gene3Di | 1.25.40.20, 2 hits |
InterProi | View protein in InterPro IPR042334, ANKRD31 IPR002110, Ankyrin_rpt IPR020683, Ankyrin_rpt-contain_dom IPR036770, Ankyrin_rpt-contain_sf IPR040843, RAMA |
PANTHERi | PTHR24176, PTHR24176, 4 hits |
Pfami | View protein in Pfam PF00023, Ank, 2 hits PF12796, Ank_2, 1 hit PF18755, RAMA, 1 hit |
PRINTSi | PR01415, ANKYRIN |
SMARTi | View protein in SMART SM00248, ANK, 6 hits |
SUPFAMi | SSF48403, SSF48403, 2 hits |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 2 hits PS50088, ANK_REPEAT, 5 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
Q8N7Z5-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MEEGVQAPDW DSDETVIEGS VTESDLEEKE LPWRRLLFDQ DASLKSEFSL
60 70 80 90 100
HPDTRGMCKG MPSPEIQLGF KLREDLQEQM NKNKMMPVLS EDTILQSQDE
110 120 130 140 150
TERNQALLQT RKNCSMFIGS FRQSGLSLNH QNIEGPEAES PEVLPHIEKE
160 170 180 190 200
LSEGRDSPEV SLLSGTAITV SDTVAVKETS LVEPEKILAA PNTFFEPRKE
210 220 230 240 250
VTMTMTSEET KDEESSLETF VSALESLLTS PESTQEERLF ELVSDFDRKE
260 270 280 290 300
LMNPLSDSLS SISIPLNSWS ACHRDLLEDA KDDALPAELL EALNTLSEAK
310 320 330 340 350
VETICHRKEG GSSLIARNEC LEVEFNTSQT NEDCTQIAET LQDPNPSGLQ
360 370 380 390 400
TLAHQNITSC EPLSNKRNSN SVTNSSDQET ACVLRRSSRL EKLKVSRDAK
410 420 430 440 450
YSDHMYKMPE KILPKILGCE DLTNNNSSAQ NFRMQDPALM IDGKEKNMHS
460 470 480 490 500
ARFKNGKQIR KNEQFSGKKE KMKVNKISLH SINRRNIFGE NLVYKAALHD
510 520 530 540 550
DADLVHHCIK KGGNVNQPSY AGWTALHEAS VGGFYRTASE LLKGGADVNI
560 570 580 590 600
KGLYQITPLH DAVMNGHYKV AELLLLNGAD PLFRNDDGKC ALDEAKDLCM
610 620 630 640 650
KRLLERYIPK HQKCLTSAQR SSIDPLDIED VYQHKKPKFS SKSHIWHVYN
660 670 680 690 700
ENSNRQKLEH VKVNKGSKAS LFINKEDVYE YYQKDPKNTK FGKSKHKQST
710 720 730 740 750
LDQIYSTGLR KGNLHNVKDP NTNVPKGIGR RKTQHKRTQV DDVDCNPRKI
760 770 780 790 800
LAVSPSRRIN RLVTYQQHIP ETHNDLPEEL CEPSSLTLSS LRNGLDSSTE
810 820 830 840 850
ACSVSKEKHI QNLDLSDSQE VQCLELESVD QTEAVSFPGL LLHKEIKLPV
860 870 880 890 900
VTTDKQPHTL QEQHHVLYKS HENSNLVPKD ERFNKWENSF LSFVKENSDN
910 920 930 940 950
DDDDDCSTSE KAITSKKVLC STGGKKHYNF KENLTNKKEM GFQQFLLSED
960 970 980 990 1000
HLSQENELKA VSLTTLPEQE AVNFSYSDNA VISEHVANYE QCIFGPSFDH
1010 1020 1030 1040 1050
SNGNPEQNSL ACMRTLLTHE ASKLTNHVEL FKKPQDYIPR APTFLMNQTD
1060 1070 1080 1090 1100
THIVEKMAKN CDTERNYIDR DQKIIYSNEP LSIVAHSQVI ETTKVEKRRQ
1110 1120 1130 1140 1150
NHLESETIHN IDSHSTDNMS KELANISKLS QREKKEISHK PGMKAGRINK
1160 1170 1180 1190 1200
RNARGESQLH LAVRRGNLPL VKALIESGAD VNLNDNAGWT PLHEASNEGS
1210 1220 1230 1240 1250
IDIIVELLKA GAKVNCENID GILPLHDAVA NNHLKAAEIL LQNGANPNQK
1260 1270 1280 1290 1300
DQKQKSALDE ADDEKMKELL RSYGAIETVN RDESDAIVNE KIPAVRSKRH
1310 1320 1330 1340 1350
KQCFCDDGKT IDSSSLSHQE RSRESLSVHQ TLSAILQDIE EKQEYLLEFE
1360 1370 1380 1390 1400
IRNPEDAEQY IEKMLKIKKI MDNVLAKQKA ERDDLAKKYR VSIESFKHGA
1410 1420 1430 1440 1450
LREQLANLAA RQKSLLVVAK KQKKISLKIQ NCRNVTSLPC LSLRKLPPRS
1460 1470 1480 1490 1500
EISSEKDSQE LTSLENLEHP QSGSLSPVSG SMQETQLSLE TWNYSQNTNI
1510 1520 1530 1540 1550
CLNSEAVRRG EFSGNDMNSK QNGSDCTLDG FPKSRHSDGT EKNKLPSQPV
1560 1570 1580 1590 1600
AFIGQTEYSQ KENDLTEATD KDHEFYVSSP VIGKLNISET ASVLAENAAH
1610 1620 1630 1640 1650
PSNIICDQDL SNYDPKRGNR KTSSQQSPTG ASESLAHQGI AVLGSDTVHQ
1660 1670 1680 1690 1700
MKPYLKKSVS VVPCADDSQI SSSSGSGQQD TIKKALNYST APKKKCIQIK
1710 1720 1730 1740 1750
DLILLGRINP GNNILEFKTQ ETTHKASILL NGKLKVESGQ IYKNPVTWLK
1760 1770 1780 1790 1800
DLLGGNSYVT WNYAWSKVTY LGKELLRYVS EDAPILPEPN SVPQQYQPCL
1810 1820 1830 1840 1850
PEVACLDDPV QEPNKSMFEK TKFGQGTSRE SMQSSPRYLQ INEILLISDQ
1860 1870
EFLPCHIMDQ HWKFCVECEE LTP
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketD6RJB7 | D6RJB7_HUMAN | Ankyrin repeat domain-containing pr... | ANKRD31 | 1,930 | Annotation score: | ||
A0A669KAY2 | A0A669KAY2_HUMAN | Ankyrin repeat domain-containing pr... | ANKRD31 | 35 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 444 | K → R in BAC05081 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_042542 | 702 | D → N. Corresponds to variant dbSNP:rs1422698Ensembl. | 1 | |
Natural variantiVAR_042543 | 758 | R → G. Corresponds to variant dbSNP:rs6893216Ensembl. | 1 | |
Natural variantiVAR_042544 | 1609 | D → E. Corresponds to variant dbSNP:rs961098Ensembl. | 1 | |
Natural variantiVAR_042545 | 1777 | R → K. Corresponds to variant dbSNP:rs4489037Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC008769 Genomic DNA No translation available. AC093259 Genomic DNA No translation available. AK097510 mRNA Translation: BAC05081.1 |
CCDSi | CCDS47233.1 |
RefSeqi | NP_001157915.1, NM_001164443.1 |
Genome annotation databases
Ensembli | ENST00000274361; ENSP00000274361; ENSG00000145700 |
GeneIDi | 256006 |
KEGGi | hsa:256006 |
UCSCi | uc003kdo.2, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC008769 Genomic DNA No translation available. AC093259 Genomic DNA No translation available. AK097510 mRNA Translation: BAC05081.1 |
CCDSi | CCDS47233.1 |
RefSeqi | NP_001157915.1, NM_001164443.1 |
3D structure databases
SMRi | Q8N7Z5 |
ModBasei | Search... |
Protein-protein interaction databases
IntActi | Q8N7Z5, 3 interactors |
MINTi | Q8N7Z5 |
STRINGi | 9606.ENSP00000274361 |
PTM databases
CarbonylDBi | Q8N7Z5 |
iPTMneti | Q8N7Z5 |
PhosphoSitePlusi | Q8N7Z5 |
Polymorphism and mutation databases
BioMutai | ANKRD31 |
DMDMi | 182627587 |
Proteomic databases
PaxDbi | Q8N7Z5 |
PeptideAtlasi | Q8N7Z5 |
PRIDEi | Q8N7Z5 |
ProteomicsDBi | 72350 |
Protocols and materials databases
Antibodypediai | 48719, 5 antibodies |
Genome annotation databases
Ensembli | ENST00000274361; ENSP00000274361; ENSG00000145700 |
GeneIDi | 256006 |
KEGGi | hsa:256006 |
UCSCi | uc003kdo.2, human |
Organism-specific databases
CTDi | 256006 |
DisGeNETi | 256006 |
EuPathDBi | HostDB:ENSG00000145700.9 |
GeneCardsi | ANKRD31 |
HGNCi | HGNC:26853, ANKRD31 |
HPAi | ENSG00000145700, Tissue enhanced (pituitary gland, testis) |
MIMi | 618423, gene |
neXtProti | NX_Q8N7Z5 |
OpenTargetsi | ENSG00000145700 |
PharmGKBi | PA134879237 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QS0Y, Eukaryota |
GeneTreei | ENSGT00940000162618 |
HOGENOMi | CLU_003348_0_0_1 |
InParanoidi | Q8N7Z5 |
OrthoDBi | 51193at2759 |
PhylomeDBi | Q8N7Z5 |
TreeFami | TF326440 |
Enzyme and pathway databases
PathwayCommonsi | Q8N7Z5 |
Miscellaneous databases
BioGRID-ORCSi | 256006, 7 hits in 768 CRISPR screens |
ChiTaRSi | ANKRD31, human |
GenomeRNAii | 256006 |
Pharosi | Q8N7Z5, Tdark |
PROi | PR:Q8N7Z5 |
RNActi | Q8N7Z5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000145700, Expressed in testis and 58 other tissues |
ExpressionAtlasi | Q8N7Z5, baseline and differential |
Genevisiblei | Q8N7Z5, HS |
Family and domain databases
Gene3Di | 1.25.40.20, 2 hits |
InterProi | View protein in InterPro IPR042334, ANKRD31 IPR002110, Ankyrin_rpt IPR020683, Ankyrin_rpt-contain_dom IPR036770, Ankyrin_rpt-contain_sf IPR040843, RAMA |
PANTHERi | PTHR24176, PTHR24176, 4 hits |
Pfami | View protein in Pfam PF00023, Ank, 2 hits PF12796, Ank_2, 1 hit PF18755, RAMA, 1 hit |
PRINTSi | PR01415, ANKYRIN |
SMARTi | View protein in SMART SM00248, ANK, 6 hits |
SUPFAMi | SSF48403, SSF48403, 2 hits |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 2 hits PS50088, ANK_REPEAT, 5 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ANR31_HUMAN | |
Accessioni | Q8N7Z5Primary (citable) accession number: Q8N7Z5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 8, 2008 |
Last sequence update: | April 8, 2008 | |
Last modified: | December 2, 2020 | |
This is version 124 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations