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UniProtKB - Q9P2S6 (ANKY1_HUMAN)

Protein

Ankyrin repeat and MYND domain-containing protein 1

Gene

ANKMY1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri880 – 920MYND-typePROSITE-ProRule annotationAdd BLAST41

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Keywordsi

LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat and MYND domain-containing protein 1
Alternative name(s):
Testis-specific ankyrin-like protein 1
Zinc finger MYND domain-containing protein 13
Gene namesi
Name:ANKMY1
Synonyms:TSAL1, ZMYND13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000144504.15
HGNCiHGNC:20987 ANKMY1
neXtProtiNX_Q9P2S6

Pathology & Biotechi

Organism-specific databases

DisGeNETi51281
OpenTargetsiENSG00000144504
PharmGKBiPA134925670

Polymorphism and mutation databases

BioMutaiANKMY1
DMDMi30912747

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000668941 – 941Ankyrin repeat and MYND domain-containing protein 1Add BLAST941

Proteomic databases

PaxDbiQ9P2S6
PeptideAtlasiQ9P2S6
PRIDEiQ9P2S6
ProteomicsDBi83890
83891 [Q9P2S6-2]
83892 [Q9P2S6-3]
83893 [Q9P2S6-4]

PTM databases

iPTMnetiQ9P2S6
PhosphoSitePlusiQ9P2S6

Expressioni

Gene expression databases

BgeeiENSG00000144504 Expressed in 159 organ(s), highest expression level in right testis
CleanExiHS_ANKMY1
ExpressionAtlasiQ9P2S6 baseline and differential
GenevisibleiQ9P2S6 HS

Organism-specific databases

HPAiHPA026620

Interactioni

Protein-protein interaction databases

BioGridi119433, 1 interactor

Structurei

3D structure databases

ProteinModelPortaliQ9P2S6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati2 – 24MORN 1Add BLAST23
Repeati25 – 47MORN 2Add BLAST23
Repeati70 – 92MORN 3Add BLAST23
Repeati292 – 321ANK 1Add BLAST30
Repeati513 – 542ANK 2Add BLAST30
Repeati545 – 574ANK 3Add BLAST30
Repeati581 – 613ANK 4Add BLAST33
Repeati657 – 691ANK 5Add BLAST35
Repeati694 – 723ANK 6Add BLAST30
Repeati737 – 766ANK 7Add BLAST30

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri880 – 920MYND-typePROSITE-ProRule annotationAdd BLAST41

Keywords - Domaini

ANK repeat, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IJ14 Eukaryota
ENOG410ZI92 LUCA
GeneTreeiENSGT00460000041630
HOGENOMiHOG000033946
HOVERGENiHBG064941
InParanoidiQ9P2S6
PhylomeDBiQ9P2S6
TreeFamiTF328860

Family and domain databases

CDDicd00204 ANK, 2 hits
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR003409 MORN
IPR002893 Znf_MYND
PfamiView protein in Pfam
PF12796 Ank_2, 3 hits
PF02493 MORN, 3 hits
PF01753 zf-MYND, 1 hit
SMARTiView protein in SMART
SM00248 ANK, 6 hits
SM00698 MORN, 3 hits
SUPFAMiSSF48403 SSF48403, 3 hits
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 2 hits
PS50088 ANK_REPEAT, 4 hits
PS01360 ZF_MYND_1, 1 hit
PS50865 ZF_MYND_2, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P2S6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MYQGEFGLNM KLGYGKFSWP TGESYHGQFY RDHCHGLGTY MWPDGSSFTG 
        60         70         80         90        100
TFYLSHREGY GTMYMKTRLF QGLYKADQRF GPGVETYPDG SQDVGLWFRE 
       110        120        130        140        150
QLIKLCTQIP SGFSLLRYPE FSSFITHSPA RISLSEEEKT EWGLQEGQDP 
       160        170        180        190        200
FFYDYKRFLL NDNLTLPPEM YVYSTNSDHL PMTSSFRKEL DARIFLNEIP 
       210        220        230        240        250
PFVEDGEPWF IINETPLLVK IQKQTYKFRN KPAHTSWNMG AILEGKRSGF 
       260        270        280        290        300
APCGPKEQLS MEMILKAEEG NHEWICRILK DNFASADVAD AKGYTVLAAA 
       310        320        330        340        350
ATHCHNDIVN LLLDCGADVN KCSDEGLTAL SMCFLLHYPA QSFKPNVAER 
       360        370        380        390        400
TIPEPQEPPK FPVVPILSSS FMDTNLESLY YEVNVPSQGS YELRPPPAPL 
       410        420        430        440        450
LLPRVSGSHE GGHFQDTGQC GGSIDHRSSS LKGDSPLVKG SLGHVESGLE 
       460        470        480        490        500
DVLGNTDRGS LCSAETKFES NVCVCDFSIE LSQAMLERSA QSHSLLKMAS 
       510        520        530        540        550
PSPCTSSFDK GTMRRMALSM IERRKRWRTI KLLLRRGADP NLCCVPMQVL 
       560        570        580        590        600
FLAVKAGDVD GVRLLLEHGA RTDICFPPQL STLTPLHIAA ALPGEEGVQI 
       610        620        630        640        650
VELLLHAITD VDAKASDEDD TYKPGKLDLL PSSLKLSNEP GPPQAYYSTD 
       660        670        680        690        700
TALPEEGGRT ALHMACERED DNKCARDIVR LLLSHGANPN LLWSGHSPLS 
       710        720        730        740        750
LSIASGNELV VKELLTQGAD PNLPLTKGLG SALCVACDLT YEHQRNMDSK 
       760        770        780        790        800
LALIDRLISH GADILKPVML RQGEKEAVGT AVDYGYFRFF QDRRIARCPF 
       810        820        830        840        850
HTLMPAERET FLARKRLLEY MGLQLRQAVF AKESQWDPTW LYLCKRAELI 
       860        870        880        890        900
PSHRMKKKGP SLPRGLDVKE QGQIPFFKFC YQCGRSIGVR LLPCPRCYGI 
       910        920        930        940 
LTCSKYCKTK AWTEFHKKDC GDLVAIVTQL EQVSRRREEF Q
Length:941
Mass (Da):105,516
Last modified:May 16, 2003 - v2
Checksum:iE6FCEE5C22EBD30A
GO
Isoform 2 (identifier: Q9P2S6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-301: MYQGEFGLNM...KGYTVLAAAA → MEGAHASLSL...TMYMKTRLFQ
     627-709: Missing.

Show »
Length:717
Mass (Da):79,878
Checksum:iF4CBCCEA5CDC79D4
GO
Isoform 3 (identifier: Q9P2S6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-301: MYQGEFGLNM...KGYTVLAAAA → MEGAHASLSL...TMYMKTRLFQ
     580-580: L → C
     581-941: Missing.

Note: No experimental confirmation available.
Show »
Length:439
Mass (Da):48,326
Checksum:i8D1069B175FD63FD
GO
Isoform 4 (identifier: Q9P2S6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     72-301: Missing.

Show »
Length:711
Mass (Da):79,259
Checksum:i4A64601EDD4DA741
GO

Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KQ21J3KQ21_HUMAN
Ankyrin repeat and MYND domain-cont...
ANKMY1
1,030Annotation score:
B5MBY4B5MBY4_HUMAN
Ankyrin repeat and MYND domain cont...
ANKMY1 hCG_1811573
702Annotation score:
J3KPY5J3KPY5_HUMAN
Ankyrin repeat and MYND domain-cont...
ANKMY1
843Annotation score:
Q6GPI0Q6GPI0_HUMAN
ANKMY1 protein
ANKMY1
720Annotation score:
H7BYI0H7BYI0_HUMAN
Ankyrin repeat and MYND domain-cont...
ANKMY1
190Annotation score:
Q5CZB7Q5CZB7_HUMAN
Ankyrin repeat and MYND domain-cont...
ANKMY1 DKFZp686L21237
246Annotation score:
J3KQ07J3KQ07_HUMAN
Ankyrin repeat and MYND domain-cont...
ANKMY1
292Annotation score:
C9J5V7C9J5V7_HUMAN
Ankyrin repeat and MYND domain-cont...
ANKMY1
168Annotation score:
C9JZ56C9JZ56_HUMAN
Ankyrin repeat and MYND domain-cont...
ANKMY1
227Annotation score:
H7C254H7C254_HUMAN
Ankyrin repeat and MYND domain-cont...
ANKMY1
189Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti455N → D in CAB66553 (PubMed:11230166).Curated1
Sequence conflicti531K → E in BAA91213 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04826489D → N. Corresponds to variant dbSNP:rs35278753Ensembl.1
Natural variantiVAR_048265424I → M1 PublicationCorresponds to variant dbSNP:rs35996697Ensembl.1
Natural variantiVAR_048266451D → V. Corresponds to variant dbSNP:rs3796118Ensembl.1
Natural variantiVAR_048267472V → L2 PublicationsCorresponds to variant dbSNP:rs3821348Ensembl.1
Natural variantiVAR_048268649T → M. Corresponds to variant dbSNP:rs35044862Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0074421 – 301MYQGE…LAAAA → MEGAHASLSLEDEVSGAGSR QRPLEGKGGETPAAEEPGSL KNYAVFATRDVSAAPEKEEE EAEGPLRAQDLRESYIQLVQ GVQEWQDGCMYQGEFGLNMK LGYGKFSWPTGESYHGQFYR DHCHGLGTYMWPDGSSFTGT FYLSHREGYGTMYMKTRLFQ in isoform 2 and isoform 3. 2 PublicationsAdd BLAST301
Alternative sequenceiVSP_03910472 – 301Missing in isoform 4. 1 PublicationAdd BLAST230
Alternative sequenceiVSP_007443580L → C in isoform 3. 1 Publication1
Alternative sequenceiVSP_007444581 – 941Missing in isoform 3. 1 PublicationAdd BLAST361
Alternative sequenceiVSP_007445627 – 709Missing in isoform 2. 1 PublicationAdd BLAST83

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB034636 mRNA Translation: BAA92844.1
AK000506 mRNA Translation: BAA91213.1
AK314534 mRNA Translation: BAG37125.1
AC124862 Genomic DNA Translation: AAX88942.1
CH471063 Genomic DNA Translation: EAW71190.1
BC033495 mRNA Translation: AAH33495.1
AL136618 mRNA Translation: CAB66553.1
AL833866 mRNA Translation: CAD38724.1
CCDSiCCDS2535.1 [Q9P2S6-2]
CCDS2536.1 [Q9P2S6-1]
RefSeqiNP_001269709.1, NM_001282780.1
NP_001269710.1, NM_001282781.1
NP_001295304.1, NM_001308375.1
NP_057636.2, NM_016552.3 [Q9P2S6-1]
NP_060314.2, NM_017844.3 [Q9P2S6-2]
UniGeneiHs.656615

Genome annotation databases

EnsembliENST00000272972; ENSP00000272972; ENSG00000144504 [Q9P2S6-1]
ENST00000361678; ENSP00000355097; ENSG00000144504 [Q9P2S6-2]
ENST00000405523; ENSP00000385635; ENSG00000144504 [Q9P2S6-3]
GeneIDi51281
KEGGihsa:51281
UCSCiuc002vyz.3 human [Q9P2S6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB034636 mRNA Translation: BAA92844.1
AK000506 mRNA Translation: BAA91213.1
AK314534 mRNA Translation: BAG37125.1
AC124862 Genomic DNA Translation: AAX88942.1
CH471063 Genomic DNA Translation: EAW71190.1
BC033495 mRNA Translation: AAH33495.1
AL136618 mRNA Translation: CAB66553.1
AL833866 mRNA Translation: CAD38724.1
CCDSiCCDS2535.1 [Q9P2S6-2]
CCDS2536.1 [Q9P2S6-1]
RefSeqiNP_001269709.1, NM_001282780.1
NP_001269710.1, NM_001282781.1
NP_001295304.1, NM_001308375.1
NP_057636.2, NM_016552.3 [Q9P2S6-1]
NP_060314.2, NM_017844.3 [Q9P2S6-2]
UniGeneiHs.656615

3D structure databases

ProteinModelPortaliQ9P2S6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119433, 1 interactor

PTM databases

iPTMnetiQ9P2S6
PhosphoSitePlusiQ9P2S6

Polymorphism and mutation databases

BioMutaiANKMY1
DMDMi30912747

Proteomic databases

PaxDbiQ9P2S6
PeptideAtlasiQ9P2S6
PRIDEiQ9P2S6
ProteomicsDBi83890
83891 [Q9P2S6-2]
83892 [Q9P2S6-3]
83893 [Q9P2S6-4]

Protocols and materials databases

DNASUi51281
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000272972; ENSP00000272972; ENSG00000144504 [Q9P2S6-1]
ENST00000361678; ENSP00000355097; ENSG00000144504 [Q9P2S6-2]
ENST00000405523; ENSP00000385635; ENSG00000144504 [Q9P2S6-3]
GeneIDi51281
KEGGihsa:51281
UCSCiuc002vyz.3 human [Q9P2S6-1]

Organism-specific databases

CTDi51281
DisGeNETi51281
EuPathDBiHostDB:ENSG00000144504.15
GeneCardsiANKMY1
HGNCiHGNC:20987 ANKMY1
HPAiHPA026620
neXtProtiNX_Q9P2S6
OpenTargetsiENSG00000144504
PharmGKBiPA134925670
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJ14 Eukaryota
ENOG410ZI92 LUCA
GeneTreeiENSGT00460000041630
HOGENOMiHOG000033946
HOVERGENiHBG064941
InParanoidiQ9P2S6
PhylomeDBiQ9P2S6
TreeFamiTF328860

Miscellaneous databases

ChiTaRSiANKMY1 human
GenomeRNAii51281
PROiPR:Q9P2S6

Gene expression databases

BgeeiENSG00000144504 Expressed in 159 organ(s), highest expression level in right testis
CleanExiHS_ANKMY1
ExpressionAtlasiQ9P2S6 baseline and differential
GenevisibleiQ9P2S6 HS

Family and domain databases

CDDicd00204 ANK, 2 hits
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR003409 MORN
IPR002893 Znf_MYND
PfamiView protein in Pfam
PF12796 Ank_2, 3 hits
PF02493 MORN, 3 hits
PF01753 zf-MYND, 1 hit
SMARTiView protein in SMART
SM00248 ANK, 6 hits
SM00698 MORN, 3 hits
SUPFAMiSSF48403 SSF48403, 3 hits
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 2 hits
PS50088 ANK_REPEAT, 4 hits
PS01360 ZF_MYND_1, 1 hit
PS50865 ZF_MYND_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiANKY1_HUMAN
AccessioniPrimary (citable) accession number: Q9P2S6
Secondary accession number(s): B2RB78
, Q4ZFV3, Q8IYX5, Q8NDK5, Q9H0V8, Q9NX10
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 16, 2003
Last sequence update: May 16, 2003
Last modified: September 12, 2018
This is version 143 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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