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Reviewed, UniProtKB/Swiss-Prot Q8IWZ3 (ANKH1_HUMAN)

Last modified November 25, 2008. Version 46. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Ankyrin repeat and KH domain-containing protein 1
Alternative name(s):
    Multiple ankyrin repeats single KH domain
      Short name=hMASK
    HIV-1 Vpr-binding ankyrin repeat protein
Gene names
Name: ANKHD1
Synonyms: KIAA1085, MASK, VBARP
ORF Names: PP2500
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2542 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

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.

Subunit structure

Interacts with PTPN11. Isoform 2 interacts with VPR.

Subcellular location

Cytoplasm.

Tissue specificity

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.

Sequence similarities

Belongs to the mask family.

Contains 25 ANK repeats.

Contains 1 KH domain.

Ontologies

Keywords

   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainANK repeat
Coiled coil
Repeat
   LigandRNA-binding
   PTMPhosphoprotein

Gene Ontology (GO)

   Cellular componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular functionRNA binding

Inferred from electronic annotation. Source: InterPro

protein binding

Inferred from physical interaction. Source: IntAct

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

DISC1Q9NRI56EBI-1785446,EBI-529989

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IWZ3-1)

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.
Isoform 2 (identifier: Q8IWZ3-2)

Also known as: VBARP-L;

The sequence of this isoform differs from the canonical sequence as follows:
     595-627: EHESEGGRTPLMKAARAGHLCTVQFLISKGANV → DKQEDMKTILEGIDPAKHQVRVAFDACKLLRKE
     628-2542: Missing.
Isoform 3 (identifier: Q8IWZ3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     154-164: Missing.
     595-627: EHESEGGRTPLMKAARAGHLCTVQFLISKGANV → DKQEDMKTILEGIDPAKHQVRVAFDACKLLRKE
     628-2542: Missing.
Isoform 4 (identifier: Q8IWZ3-4)

The sequence of this isoform differs from the canonical sequence as follows:
     2342-2343: SS → SCDSPIPSVSSGSSSPLSA
     2524-2542: IWPGTWAPHIGNMHLKYVN → VKWA
Isoform 5 (identifier: Q8IWZ3-5)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 25422542Ankyrin repeat and KH domain-containing protein 1
PRO_0000306326

Regions

Repeat204 – 23330ANK 1
Repeat237 – 26630ANK 2
Repeat271 – 30030ANK 3
Repeat304 – 33330ANK 4
Repeat337 – 36630ANK 5
Repeat371 – 40030ANK 6
Repeat404 – 43330ANK 7
Repeat437 – 46630ANK 8
Repeat470 – 49930ANK 9
Repeat504 – 53330ANK 10
Repeat534 – 56330ANK 11
Repeat567 – 59630ANK 12
Repeat600 – 62930ANK 13
Repeat634 – 66330ANK 14
Repeat667 – 69630ANK 15
Repeat1054 – 108330ANK 16
Repeat1087 – 111630ANK 17
Repeat1121 – 115030ANK 18
Repeat1154 – 118330ANK 19
Repeat1189 – 121830ANK 20
Repeat1223 – 125230ANK 21
Repeat1256 – 128530ANK 22
Repeat1291 – 132030ANK 23
Repeat1324 – 135330ANK 24
Repeat1357 – 138630ANK 25
Domain1695 – 175965KH
Coiled coil775 – 85278 Potential
Coiled coil1415 – 148571 Potential
Compositional bias6 – 9489Gly-rich
Compositional bias1977 – 2100124Ser-rich
Compositional bias2291 – 22999Poly-Ser

Amino acid modifications

Modified residue16531Phosphothreonine

Natural variations

Alternative sequence154 – 16411Missing in isoform 3.
VSP_028452
Alternative sequence559 – 58123ANVHA…ENGHT → QAGGHEDYFGGHRSGQASGE GGL in isoform 5.
VSP_028453
Alternative sequence582 – 25421961Missing in isoform 5.
VSP_028454
Alternative sequence595 – 62733EHESE…KGANV → DKQEDMKTILEGIDPAKHQV RVAFDACKLLRKE in isoform 2 and isoform 3.
VSP_028455
Alternative sequence628 – 25421915Missing in isoform 2 and isoform 3.
VSP_028456
Alternative sequence2342 – 23432SS → SCDSPIPSVSSGSSSPLSA in isoform 4.
VSP_028457
Alternative sequence2524 – 254219IWPGT…LKYVN → VKWA in isoform 4.
VSP_028458
Natural variant1751L → M: dbSNP rs17850570.
VAR_035291
Natural variant2281G → C: dbSNP rs17850572.
VAR_035292
Natural variant17601N → S: dbSNP rs3752704.
VAR_035293

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: AB310E826A4134D0

FASTA2,542269,458
        10         20         30         40         50         60 
MLTDSGGGGT SFEEDLDSVA PRSAPAGASE PPPPGGVGLG IRTVRLFGEA GPASGVGSSG 

        70         80         90        100        110        120 
GGGSGSGTGG GDAALDFKLA AAVLRTGGGG GASGSDEDEV SEVESFILDQ EDLDNPVLKT 

       130        140        150        160        170        180 
TSEIFLSSTA EGADLRTVDP ETQARLEALL EAAGIGKLST ADGKAFADPE VLRRLTSSVS 

       190        200        210        220        230        240 
CALDEAAAAL TRMKAENSHN AGQVDTRSLA EACSDGDVNA VRKLLDEGRS VNEHTEEGES 

       250        260        270        280        290        300 
LLCLACSAGY YELAQVLLAM HANVEDRGNK GDITPLMAAS SGGYLDIVKL LLLHDADVNS 

       310        320        330        340        350        360 
QSATGNTALT YACAGGFVDI VKVLLNEGAN IEDHNENGHT PLMEAASAGH VEVARVLLDH 

       370        380        390        400        410        420 
GAGINTHSNE FKESALTLAC YKGHLDMVRF LLEAGADQEH KTDEMHTALM EACMDGHVEV 

       430        440        450        460        470        480 
ARLLLDSGAQ VNMPADSFES PLTLAACGGH VELAALLIER GANLEEVNDE GYTPLMEAAR 

       490        500        510        520        530        540 
EGHEEMVALL LAQGANINAQ TEETQETALT LACCGGFSEV ADFLIKAGAD IELGCSTPLM 

       550        560        570        580        590        600 
EASQEGHLEL VKYLLASGAN VHATTATGDT ALTYACENGH TDVADVLLQA GADLEHESEG 

       610        620        630        640        650        660 
GRTPLMKAAR AGHLCTVQFL ISKGANVNRA TANNDHTVVS LACAGGHLAV VELLLAHGAD 

       670        680        690        700        710        720 
PTHRLKDGST MLIEAAKGGH TNVVSYLLDY PNNVLSVPTT DVSQLPPPSQ DQSQVPRVPT 

       730        740        750        760        770        780 
HTLAMVVPPQ EPDRTSQENS PALLGVQKGT SKQKSSSLQV ADQDLLPSFH PYQPLECIVE 

       790        800        810        820        830        840 
ETEGKLNELG QRISAIEKAQ LKSLELIQGE PLNKDKIEEL KKNREEQVQK KKKILKELQK 

       850        860        870        880        890        900 
VERQLQMKTQ QQFTKEYLET KGQKDTVSLH QQCSHRGVFP EGEGDGSLPE DHFSELPQVD 

       910        920        930        940        950        960 
TILFKDNDVD DEQQSPPSAE QIDFVPVQPL SSPQCNFSSD LGSNGTNSLE LQKVSGNQQI 

       970        980        990       1000       1010       1020 
VGQPQIAITG HDQGLLVQEP DGLMVATPAQ TLTDTLDDLI AAVSTRVPTG SNSSSQTTEC 

      1030       1040       1050       1060       1070       1080 
LTPESCSQTT SNVASQSMPP VYPSVDIDAH TESNHDTALT LACAGGHEEL VSVLIARDAK 

      1090       1100       1110       1120       1130       1140 
IEHRDKKGFT PLILAATAGH VGVVEILLDK GGDIEAQSER TKDTPLSLAC SGGRQEVVDL 

      1150       1160       1170       1180       1190       1200 
LLARGANKEH RNVSDYTPLS LAASGGYVNI IKILLNAGAE INSRTGSKLG ISPLMLAAMN 

      1210       1220       1230       1240       1250       1260 
GHVPAVKLLL DMGSDINAQI ETNRNTALTL ACFQGRAEVV SLLLDRKANV EHRAKTGLTP 

      1270       1280       1290       1300       1310       1320 
LMEAASGGYA EVGRVLLDKG ADVNAPPVPS SRDTALTIAA DKGHYKFCEL LIHRGAHIDV 

      1330       1340       1350       1360       1370       1380 
RNKKGNTPLW LASNGGHFDV VQLLVQAGAD VDAADNRKIT PLMSAFRKGH VKVVQYLVKE 

      1390       1400       1410       1420       1430       1440 
VNQFPSDIEC MRYIATITDK ELLKKCHQCV ETIVKAKDQQ AAEANKNASI LLKELDLEKS 

      1450       1460       1470       1480       1490       1500 
REESRKQALA AKREKRKEKR KKKKEEQKRK QEEDEENKPK ENSELPEDED EEENDEDVEQ 

      1510       1520       1530       1540       1550       1560 
EVPIEPPSAT TTTTIGISAT SATFTNVFGK KRANVVTTPS TNRKNKKNKT KETPPTAHLI 

      1570       1580       1590       1600       1610       1620 
LPEQHMSLAQ QKADKNKING EPRGGGAGGN SDSDNLDSTD CNSESSSGGK SQELNFVMDV 

      1630       1640       1650       1660       1670       1680 
NSSKYPSLLL HSQEEKTSTA TSKTQTRLEG EVTPNSLSTS YKTVSLPLSS PNIKLNLTSP 

      1690       1700       1710       1720       1730       1740 
KRGQKREEGW KEVVRRSKKL SVPASVVSRI MGRGGCNITA IQDVTGAHID VDKQKDKNGE 

      1750       1760       1770       1780       1790       1800 
RMITIRGGTE STRYAVQLIN ALIQDPAKEL EDLIPKNHIR TPASTKSIHA NFSSGVGTTA 

      1810       1820       1830       1840       1850       1860 
ASSKNAFPLG APTLVTSQAT TLSTFQPANK LNKNVPTNVR SSFPVSLPLA YPHPHFALLA 

      1870       1880       1890       1900       1910       1920 
AQTMQQIRHP RLPMAQFGGT FSPSPNTWGP FPVRPVNPGN TNSSPKHNNT SRLPNQNGTV 

      1930       1940       1950       1960       1970       1980 
LPSESAGLAT ASCPITVSSV VAASQQLCVT NTRTPSSVRK QLFACVPKTS PPATVISSVT 

      1990       2000       2010       2020       2030       2040 
STCSSLPSVS SAPITSGQAP TTFLPASTSQ AQLSSQKMES FSAVPPTKEK VSTQDQPMAN 

      2050       2060       2070       2080       2090       2100 
LCTPSSTANS CSSSASNTPG APETHPSSSP TPTSSNTQEE AQPSSVSDLS PMSMPFASNS 

      2110       2120       2130       2140       2150       2160 
EPAPLTLTSP RMVAADNQDT SNLPQLAVPA PRVSHRMQPR GSFYSMVPNA TIHQDPQSIF 

      2170       2180       2190       2200       2210       2220 
VTNPVTLTPP QGPPAAVQLS SAVNIMNGSQ MHINPANKSL PPTFGPATLF NHFSSLFDSS 

      2230       2240       2250       2260       2270       2280 
QVPANQGWGD GPLSSRVATD ASFTVQSAFL GNSVLGHLEN MHPDNSKAPG FRPPSQRVST 

      2290       2300       2310       2320       2330       2340 
SPVGLPSIDP SGSSPSSSSA PLASFSGIPG TRVFLQGPAP VGTPSFNRQH FSPHPWTSAS 

      2350       2360       2370       2380       2390       2400 
NSSTSAPPTL GQPKGVSASQ DRKIPPPIGT ERLARIRQGG SVAQAPAGTS FVAPVGHSGI 

      2410       2420       2430       2440       2450       2460 
WSFGVNAVSE GLSGWSQSVM GNHPMHQQLS DPSTFSQHQP MERDDSGMVA PSNIFHQPMA 

      2470       2480       2490       2500       2510       2520 
SGFVDFSKGL PISMYGGTII PSHPQLADVP GGPLFNGLHN PDPAWNPMIK VIQNSTECTD 

      2530       2540 
AQQIWPGTWA PHIGNMHLKY VN 

« Hide

Isoform 2 (VBARP-L) [UniParc].

Checksum: 141288C8EC9A42CB
Show »

62764,912
Isoform 3 [UniParc].

Checksum: 813BEFD05BB8753B
Show »

61663,884
Isoform 4 [UniParc].

Checksum: CF2D5BAF8FF3D40D
Show »

2,544269,298
Isoform 5 [UniParc].

Checksum: 1909744ED03FC919
Show »

58159,777

References

« Hide 'large scale' references
[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: 14557257] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), 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. expand/collapse author list , 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: 15498874] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[3]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. expand/collapse author list , 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
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 5), VARIANTS MET-175 AND CYS-228.
Tissue: Lung.
[5]"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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y