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Q8IWZ3

- ANKH1_HUMAN

UniProt

Q8IWZ3 - ANKH1_HUMAN

Protein

Ankyrin repeat and KH domain-containing protein 1

Gene

ANKHD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 107 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    Functioni

    May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases.1 Publication

    GO - Molecular functioni

    1. poly(A) RNA binding Source: UniProtKB
    2. protein binding Source: IntAct

    Keywords - Ligandi

    RNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ankyrin repeat and KH domain-containing protein 1
    Alternative name(s):
    HIV-1 Vpr-binding ankyrin repeat protein
    Multiple ankyrin repeats single KH domain
    Short name:
    hMASK
    Gene namesi
    Name:ANKHD1
    Synonyms:KIAA1085, MASK, VBARP
    ORF Names:PP2500
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:24714. ANKHD1.

    Subcellular locationi

    Cytoplasm 2 Publications

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134947858.
    PA162376432.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 25422542Ankyrin repeat and KH domain-containing protein 1PRO_0000306326Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication
    Modified residuei101 – 1011Phosphoserine1 Publication
    Modified residuei1653 – 16531Phosphothreonine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ8IWZ3.
    PaxDbiQ8IWZ3.
    PRIDEiQ8IWZ3.

    PTM databases

    PhosphoSiteiQ8IWZ3.

    Expressioni

    Tissue specificityi

    Ubiquitous with high expression in cervix, spleen and brain. Expressed in hematopoietic cells with increased expression in leukemia cells. Isoform 2 is highly expressed in spleen with almost no expression in muscle and brain.3 Publications

    Gene expression databases

    ArrayExpressiQ8IWZ3.
    BgeeiQ8IWZ3.
    GenevestigatoriQ8IWZ3.

    Organism-specific databases

    HPAiHPA008718.

    Interactioni

    Subunit structurei

    Interacts with PTPN11. Isoform 2 interacts with HIV-1 VPR.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    DISC1Q9NRI56EBI-1785446,EBI-529989
    NFKBIEO002212EBI-359558,EBI-355098

    Protein-protein interaction databases

    BioGridi120230. 12 interactions.
    DIPiDIP-36371N.
    IntActiQ8IWZ3. 12 interactions.
    MINTiMINT-1427756.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IWZ3.
    SMRiQ8IWZ3. Positions 185-726, 976-1456.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati204 – 23330ANK 1Add
    BLAST
    Repeati237 – 26630ANK 2Add
    BLAST
    Repeati271 – 30030ANK 3Add
    BLAST
    Repeati304 – 33330ANK 4Add
    BLAST
    Repeati337 – 36630ANK 5Add
    BLAST
    Repeati371 – 40030ANK 6Add
    BLAST
    Repeati404 – 43330ANK 7Add
    BLAST
    Repeati437 – 46630ANK 8Add
    BLAST
    Repeati470 – 49930ANK 9Add
    BLAST
    Repeati504 – 53330ANK 10Add
    BLAST
    Repeati534 – 56330ANK 11Add
    BLAST
    Repeati567 – 59630ANK 12Add
    BLAST
    Repeati600 – 62930ANK 13Add
    BLAST
    Repeati634 – 66330ANK 14Add
    BLAST
    Repeati667 – 69630ANK 15Add
    BLAST
    Repeati1054 – 108330ANK 16Add
    BLAST
    Repeati1087 – 111630ANK 17Add
    BLAST
    Repeati1121 – 115030ANK 18Add
    BLAST
    Repeati1154 – 118330ANK 19Add
    BLAST
    Repeati1189 – 121830ANK 20Add
    BLAST
    Repeati1223 – 125230ANK 21Add
    BLAST
    Repeati1256 – 128530ANK 22Add
    BLAST
    Repeati1291 – 132030ANK 23Add
    BLAST
    Repeati1324 – 135330ANK 24Add
    BLAST
    Repeati1357 – 138630ANK 25Add
    BLAST
    Domaini1695 – 175965KHPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili775 – 85278Sequence AnalysisAdd
    BLAST
    Coiled coili1415 – 148571Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi6 – 9489Gly-richAdd
    BLAST
    Compositional biasi1977 – 2100124Ser-richAdd
    BLAST
    Compositional biasi2291 – 22999Poly-Ser

    Sequence similaritiesi

    Belongs to the mask family.Curated
    Contains 25 ANK repeats.PROSITE-ProRule annotation
    Contains 1 KH domain.PROSITE-ProRule annotation

    Keywords - Domaini

    ANK repeat, Coiled coil, Repeat

    Phylogenomic databases

    eggNOGiCOG0666.
    HOVERGENiHBG071352.
    KOiK16726.
    OMAiKVSGNHQ.
    PhylomeDBiQ8IWZ3.
    TreeFamiTF328552.

    Family and domain databases

    Gene3Di1.25.40.20. 3 hits.
    3.30.1370.10. 1 hit.
    InterProiIPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR004087. KH_dom.
    IPR004088. KH_dom_type_1.
    [Graphical view]
    PfamiPF00023. Ank. 1 hit.
    PF12796. Ank_2. 8 hits.
    PF00013. KH_1. 1 hit.
    [Graphical view]
    PRINTSiPR01415. ANKYRIN.
    SMARTiSM00248. ANK. 25 hits.
    SM00322. KH. 1 hit.
    [Graphical view]
    SUPFAMiSSF48403. SSF48403. 3 hits.
    SSF54791. SSF54791. 1 hit.
    PROSITEiPS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 20 hits.
    PS50084. KH_TYPE_1. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IWZ3-1) [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

    MLTDSGGGGT SFEEDLDSVA PRSAPAGASE PPPPGGVGLG IRTVRLFGEA     50
    GPASGVGSSG GGGSGSGTGG GDAALDFKLA AAVLRTGGGG GASGSDEDEV 100
    SEVESFILDQ EDLDNPVLKT TSEIFLSSTA EGADLRTVDP ETQARLEALL 150
    EAAGIGKLST ADGKAFADPE VLRRLTSSVS CALDEAAAAL TRMKAENSHN 200
    AGQVDTRSLA EACSDGDVNA VRKLLDEGRS VNEHTEEGES LLCLACSAGY 250
    YELAQVLLAM HANVEDRGNK GDITPLMAAS SGGYLDIVKL LLLHDADVNS 300
    QSATGNTALT YACAGGFVDI VKVLLNEGAN IEDHNENGHT PLMEAASAGH 350
    VEVARVLLDH GAGINTHSNE FKESALTLAC YKGHLDMVRF LLEAGADQEH 400
    KTDEMHTALM EACMDGHVEV ARLLLDSGAQ VNMPADSFES PLTLAACGGH 450
    VELAALLIER GANLEEVNDE GYTPLMEAAR EGHEEMVALL LAQGANINAQ 500
    TEETQETALT LACCGGFSEV ADFLIKAGAD IELGCSTPLM EASQEGHLEL 550
    VKYLLASGAN VHATTATGDT ALTYACENGH TDVADVLLQA GADLEHESEG 600
    GRTPLMKAAR AGHLCTVQFL ISKGANVNRA TANNDHTVVS LACAGGHLAV 650
    VELLLAHGAD PTHRLKDGST MLIEAAKGGH TNVVSYLLDY PNNVLSVPTT 700
    DVSQLPPPSQ DQSQVPRVPT HTLAMVVPPQ EPDRTSQENS PALLGVQKGT 750
    SKQKSSSLQV ADQDLLPSFH PYQPLECIVE ETEGKLNELG QRISAIEKAQ 800
    LKSLELIQGE PLNKDKIEEL KKNREEQVQK KKKILKELQK VERQLQMKTQ 850
    QQFTKEYLET KGQKDTVSLH QQCSHRGVFP EGEGDGSLPE DHFSELPQVD 900
    TILFKDNDVD DEQQSPPSAE QIDFVPVQPL SSPQCNFSSD LGSNGTNSLE 950
    LQKVSGNQQI VGQPQIAITG HDQGLLVQEP DGLMVATPAQ TLTDTLDDLI 1000
    AAVSTRVPTG SNSSSQTTEC LTPESCSQTT SNVASQSMPP VYPSVDIDAH 1050
    TESNHDTALT LACAGGHEEL VSVLIARDAK IEHRDKKGFT PLILAATAGH 1100
    VGVVEILLDK GGDIEAQSER TKDTPLSLAC SGGRQEVVDL LLARGANKEH 1150
    RNVSDYTPLS LAASGGYVNI IKILLNAGAE INSRTGSKLG ISPLMLAAMN 1200
    GHVPAVKLLL DMGSDINAQI ETNRNTALTL ACFQGRAEVV SLLLDRKANV 1250
    EHRAKTGLTP LMEAASGGYA EVGRVLLDKG ADVNAPPVPS SRDTALTIAA 1300
    DKGHYKFCEL LIHRGAHIDV RNKKGNTPLW LASNGGHFDV VQLLVQAGAD 1350
    VDAADNRKIT PLMSAFRKGH VKVVQYLVKE VNQFPSDIEC MRYIATITDK 1400
    ELLKKCHQCV ETIVKAKDQQ AAEANKNASI LLKELDLEKS REESRKQALA 1450
    AKREKRKEKR KKKKEEQKRK QEEDEENKPK ENSELPEDED EEENDEDVEQ 1500
    EVPIEPPSAT TTTTIGISAT SATFTNVFGK KRANVVTTPS TNRKNKKNKT 1550
    KETPPTAHLI LPEQHMSLAQ QKADKNKING EPRGGGAGGN SDSDNLDSTD 1600
    CNSESSSGGK SQELNFVMDV NSSKYPSLLL HSQEEKTSTA TSKTQTRLEG 1650
    EVTPNSLSTS YKTVSLPLSS PNIKLNLTSP KRGQKREEGW KEVVRRSKKL 1700
    SVPASVVSRI MGRGGCNITA IQDVTGAHID VDKQKDKNGE RMITIRGGTE 1750
    STRYAVQLIN ALIQDPAKEL EDLIPKNHIR TPASTKSIHA NFSSGVGTTA 1800
    ASSKNAFPLG APTLVTSQAT TLSTFQPANK LNKNVPTNVR SSFPVSLPLA 1850
    YPHPHFALLA AQTMQQIRHP RLPMAQFGGT FSPSPNTWGP FPVRPVNPGN 1900
    TNSSPKHNNT SRLPNQNGTV LPSESAGLAT ASCPITVSSV VAASQQLCVT 1950
    NTRTPSSVRK QLFACVPKTS PPATVISSVT STCSSLPSVS SAPITSGQAP 2000
    TTFLPASTSQ AQLSSQKMES FSAVPPTKEK VSTQDQPMAN LCTPSSTANS 2050
    CSSSASNTPG APETHPSSSP TPTSSNTQEE AQPSSVSDLS PMSMPFASNS 2100
    EPAPLTLTSP RMVAADNQDT SNLPQLAVPA PRVSHRMQPR GSFYSMVPNA 2150
    TIHQDPQSIF VTNPVTLTPP QGPPAAVQLS SAVNIMNGSQ MHINPANKSL 2200
    PPTFGPATLF NHFSSLFDSS QVPANQGWGD GPLSSRVATD ASFTVQSAFL 2250
    GNSVLGHLEN MHPDNSKAPG FRPPSQRVST SPVGLPSIDP SGSSPSSSSA 2300
    PLASFSGIPG TRVFLQGPAP VGTPSFNRQH FSPHPWTSAS NSSTSAPPTL 2350
    GQPKGVSASQ DRKIPPPIGT ERLARIRQGG SVAQAPAGTS FVAPVGHSGI 2400
    WSFGVNAVSE GLSGWSQSVM GNHPMHQQLS DPSTFSQHQP MERDDSGMVA 2450
    PSNIFHQPMA SGFVDFSKGL PISMYGGTII PSHPQLADVP GGPLFNGLHN 2500
    PDPAWNPMIK VIQNSTECTD AQQIWPGTWA PHIGNMHLKY VN 2542
    Length:2,542
    Mass (Da):269,458
    Last modified:March 1, 2003 - v1
    Checksum:iAB310E826A4134D0
    GO
    Isoform 2 (identifier: Q8IWZ3-2) [UniParc]FASTAAdd to Basket

    Also known as: VBARP-L

    The sequence of this isoform differs from the canonical sequence as follows:
         595-627: EHESEGGRTPLMKAARAGHLCTVQFLISKGANV → DKQEDMKTILEGIDPAKHQVRVAFDACKLLRKE
         628-2542: Missing.

    Show »
    Length:627
    Mass (Da):64,912
    Checksum:i141288C8EC9A42CB
    GO
    Isoform 3 (identifier: Q8IWZ3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         154-164: Missing.
         595-627: EHESEGGRTPLMKAARAGHLCTVQFLISKGANV → DKQEDMKTILEGIDPAKHQVRVAFDACKLLRKE
         628-2542: Missing.

    Show »
    Length:616
    Mass (Da):63,884
    Checksum:i813BEFD05BB8753B
    GO
    Isoform 4 (identifier: Q8IWZ3-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2342-2343: SS → SCDSPIPSVSSGSSSPLSA
         2524-2542: IWPGTWAPHIGNMHLKYVN → VKWA

    Show »
    Length:2,544
    Mass (Da):269,298
    Checksum:iCF2D5BAF8FF3D40D
    GO
    Isoform 5 (identifier: Q8IWZ3-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         559-581: ANVHATTATGDTALTYACENGHT → QAGGHEDYFGGHRSGQASGEGGL
         582-2542: Missing.

    Show »
    Length:581
    Mass (Da):59,777
    Checksum:i1909744ED03FC919
    GO
    Isoform 6 (identifier: Q8IWZ3-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2524-2542: IWPGTWAPHIGNMHLKYVN → ASLLPSVPAL...GAGDRGRDTR

    Show »
    Length:2,617
    Mass (Da):277,175
    Checksum:i2C93ED2B397C7CA6
    GO

    Sequence cautioni

    The sequence BAA91417.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAB13958.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti175 – 1751L → M.1 Publication
    Corresponds to variant rs17850570 [ dbSNP | Ensembl ].
    VAR_035291
    Natural varianti228 – 2281G → C.1 Publication
    Corresponds to variant rs17850572 [ dbSNP | Ensembl ].
    VAR_035292
    Natural varianti1586 – 15861G → S.
    Corresponds to variant rs1051309 [ dbSNP | Ensembl ].
    VAR_048281
    Natural varianti1760 – 17601N → S.
    Corresponds to variant rs3752704 [ dbSNP | Ensembl ].
    VAR_035293

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei154 – 16411Missing in isoform 3. 1 PublicationVSP_028452Add
    BLAST
    Alternative sequencei559 – 58123ANVHA…ENGHT → QAGGHEDYFGGHRSGQASGE GGL in isoform 5. 1 PublicationVSP_028453Add
    BLAST
    Alternative sequencei582 – 25421961Missing in isoform 5. 1 PublicationVSP_028454Add
    BLAST
    Alternative sequencei595 – 62733EHESE…KGANV → DKQEDMKTILEGIDPAKHQV RVAFDACKLLRKE in isoform 2 and isoform 3. 3 PublicationsVSP_028455Add
    BLAST
    Alternative sequencei628 – 25421915Missing in isoform 2 and isoform 3. 3 PublicationsVSP_028456Add
    BLAST
    Alternative sequencei2342 – 23432SS → SCDSPIPSVSSGSSSPLSA in isoform 4. 1 PublicationVSP_028457
    Alternative sequencei2524 – 254219IWPGT…LKYVN → VKWA in isoform 4. 1 PublicationVSP_028458Add
    BLAST
    Alternative sequencei2524 – 254219IWPGT…LKYVN → ASLLPSVPALKGEIPSPQLT RPKKRIGRPMVASPNQRHQD HLRPKVPAGVQELTHCPDTP LLPPSDSRGHNSSNSPSLQA GGAEGAGDRGRDTR in isoform 6. 1 PublicationVSP_044231Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF521882 mRNA. Translation: AAO14943.1.
    AF521883 mRNA. Translation: AAO14944.1.
    AF258557 mRNA. Translation: AAG23760.1.
    AC008438 Genomic DNA. No translation available.
    AC011399 Genomic DNA. No translation available.
    CH471062 Genomic DNA. Translation: EAW62055.1.
    CH471062 Genomic DNA. Translation: EAW62058.1.
    BC004457 mRNA. Translation: AAH04457.2.
    BC009420 mRNA. Translation: AAH09420.1.
    BC009909 mRNA. Translation: AAH09909.1.
    BC117677 mRNA. Translation: AAI17678.1.
    BC117678 mRNA. Translation: AAI17679.1.
    BC127127 mRNA. Translation: AAI27128.1.
    BC150486 mRNA. Translation: AAI50487.1.
    AK000904 mRNA. Translation: BAA91417.1. Different initiation.
    AK022041 mRNA. Translation: BAB13958.1. Different initiation.
    AF217646 mRNA. Translation: AAG41779.1.
    AB029008 mRNA. Translation: BAA83037.1.
    CCDSiCCDS4225.1. [Q8IWZ3-1]
    CCDS43371.1. [Q8IWZ3-2]
    CCDS43372.1. [Q8IWZ3-3]
    RefSeqiNP_001183959.1. NM_001197030.1. [Q8IWZ3-5]
    NP_060217.1. NM_017747.2. [Q8IWZ3-1]
    NP_060448.1. NM_017978.2. [Q8IWZ3-3]
    NP_065741.3. NM_020690.5. [Q8IWZ3-6]
    NP_078944.2. NM_024668.3. [Q8IWZ3-2]
    UniGeneiHs.594084.

    Genome annotation databases

    EnsembliENST00000297183; ENSP00000297183; ENSG00000131503. [Q8IWZ3-6]
    ENST00000360839; ENSP00000354085; ENSG00000131503. [Q8IWZ3-1]
    ENST00000394722; ENSP00000378211; ENSG00000131503. [Q8IWZ3-3]
    ENST00000394723; ENSP00000378212; ENSG00000131503. [Q8IWZ3-2]
    GeneIDi404734.
    54882.
    KEGGihsa:404734.
    hsa:54882.
    UCSCiuc003lfo.3. human. [Q8IWZ3-2]
    uc003lfp.3. human. [Q8IWZ3-3]
    uc003lfr.3. human. [Q8IWZ3-1]
    uc003lfs.2. human. [Q8IWZ3-6]
    uc010jfk.3. human. [Q8IWZ3-5]

    Polymorphism databases

    DMDMi74750718.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF521882 mRNA. Translation: AAO14943.1 .
    AF521883 mRNA. Translation: AAO14944.1 .
    AF258557 mRNA. Translation: AAG23760.1 .
    AC008438 Genomic DNA. No translation available.
    AC011399 Genomic DNA. No translation available.
    CH471062 Genomic DNA. Translation: EAW62055.1 .
    CH471062 Genomic DNA. Translation: EAW62058.1 .
    BC004457 mRNA. Translation: AAH04457.2 .
    BC009420 mRNA. Translation: AAH09420.1 .
    BC009909 mRNA. Translation: AAH09909.1 .
    BC117677 mRNA. Translation: AAI17678.1 .
    BC117678 mRNA. Translation: AAI17679.1 .
    BC127127 mRNA. Translation: AAI27128.1 .
    BC150486 mRNA. Translation: AAI50487.1 .
    AK000904 mRNA. Translation: BAA91417.1 . Different initiation.
    AK022041 mRNA. Translation: BAB13958.1 . Different initiation.
    AF217646 mRNA. Translation: AAG41779.1 .
    AB029008 mRNA. Translation: BAA83037.1 .
    CCDSi CCDS4225.1. [Q8IWZ3-1 ]
    CCDS43371.1. [Q8IWZ3-2 ]
    CCDS43372.1. [Q8IWZ3-3 ]
    RefSeqi NP_001183959.1. NM_001197030.1. [Q8IWZ3-5 ]
    NP_060217.1. NM_017747.2. [Q8IWZ3-1 ]
    NP_060448.1. NM_017978.2. [Q8IWZ3-3 ]
    NP_065741.3. NM_020690.5. [Q8IWZ3-6 ]
    NP_078944.2. NM_024668.3. [Q8IWZ3-2 ]
    UniGenei Hs.594084.

    3D structure databases

    ProteinModelPortali Q8IWZ3.
    SMRi Q8IWZ3. Positions 185-726, 976-1456.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120230. 12 interactions.
    DIPi DIP-36371N.
    IntActi Q8IWZ3. 12 interactions.
    MINTi MINT-1427756.

    PTM databases

    PhosphoSitei Q8IWZ3.

    Polymorphism databases

    DMDMi 74750718.

    Proteomic databases

    MaxQBi Q8IWZ3.
    PaxDbi Q8IWZ3.
    PRIDEi Q8IWZ3.

    Protocols and materials databases

    DNASUi 54882.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000297183 ; ENSP00000297183 ; ENSG00000131503 . [Q8IWZ3-6 ]
    ENST00000360839 ; ENSP00000354085 ; ENSG00000131503 . [Q8IWZ3-1 ]
    ENST00000394722 ; ENSP00000378211 ; ENSG00000131503 . [Q8IWZ3-3 ]
    ENST00000394723 ; ENSP00000378212 ; ENSG00000131503 . [Q8IWZ3-2 ]
    GeneIDi 404734.
    54882.
    KEGGi hsa:404734.
    hsa:54882.
    UCSCi uc003lfo.3. human. [Q8IWZ3-2 ]
    uc003lfp.3. human. [Q8IWZ3-3 ]
    uc003lfr.3. human. [Q8IWZ3-1 ]
    uc003lfs.2. human. [Q8IWZ3-6 ]
    uc010jfk.3. human. [Q8IWZ3-5 ]

    Organism-specific databases

    CTDi 404734.
    54882.
    GeneCardsi GC05P139763.
    HGNCi HGNC:24714. ANKHD1.
    HPAi HPA008718.
    MIMi 610500. gene.
    neXtProti NX_Q8IWZ3.
    PharmGKBi PA134947858.
    PA162376432.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0666.
    HOVERGENi HBG071352.
    KOi K16726.
    OMAi KVSGNHQ.
    PhylomeDBi Q8IWZ3.
    TreeFami TF328552.

    Miscellaneous databases

    ChiTaRSi ANKHD1. human.
    GeneWikii ANKHD1.
    NextBioi 107909.
    PROi Q8IWZ3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IWZ3.
    Bgeei Q8IWZ3.
    Genevestigatori Q8IWZ3.

    Family and domain databases

    Gene3Di 1.25.40.20. 3 hits.
    3.30.1370.10. 1 hit.
    InterProi IPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR004087. KH_dom.
    IPR004088. KH_dom_type_1.
    [Graphical view ]
    Pfami PF00023. Ank. 1 hit.
    PF12796. Ank_2. 8 hits.
    PF00013. KH_1. 1 hit.
    [Graphical view ]
    PRINTSi PR01415. ANKYRIN.
    SMARTi SM00248. ANK. 25 hits.
    SM00322. KH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48403. SSF48403. 3 hits.
    SSF54791. SSF54791. 1 hit.
    PROSITEi PS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 20 hits.
    PS50084. KH_TYPE_1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK."
      Poulin F., Brueschke A., Sonenberg N.
      J. Biol. Chem. 278:52290-52297(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 6), TISSUE SPECIFICITY.
    2. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
      Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
      , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
      Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    3. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 5), VARIANTS MET-175 AND CYS-228.
      Tissue: Lung.
    6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      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.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 670-1189 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 105-2542 (ISOFORM 2).
      Tissue: Embryo.
    7. "A novel protein with ten ankyrin repeats."
      Cheng C.M., Yuo C.Y.
      Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 924-1455 (ISOFORM 1).
    8. "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 6:197-205(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1961-2542 (ISOFORM 4).
      Tissue: Brain.
    9. "Molecular and functional characterization of a novel splice variant of ANKHD1 that lacks the KH domain and its role in cell survival and apoptosis."
      Miles M.C., Janket M.L., Wheeler E.D., Chattopadhyay A., Majumder B., Dericco J., Schafer E.A., Ayyavoo V.
      FEBS J. 272:4091-4102(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH HIV-1 VPR, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    10. "ANKHD1, ankyrin repeat and KH domain containing 1, is overexpressed in acute leukemias and is associated with SHP2 in K562 cells."
      Traina F., Favaro P.M.B., Medina Sde S., Duarte Ada S., Winnischofer S.M., Costa F.F., Saad S.T.O.
      Biochim. Biophys. Acta 1762:828-834(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH PTPN11.
    11. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
      Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
      Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    12. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1653, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-101, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    15. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    16. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    17. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiANKH1_HUMAN
    AccessioniPrimary (citable) accession number: Q8IWZ3
    Secondary accession number(s): A6NH85
    , Q149P2, Q8IWZ2, Q8WY90, Q96G77, Q96GK0, Q9H2U0, Q9HA95, Q9NWG4, Q9UPR7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 2, 2007
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 107 of the entry and version 1 of the sequence. [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 5
      Human chromosome 5: 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
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3