Reviewed, UniProtKB/Swiss-Prot Q8IWZ3 (ANKH1_HUMAN)

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	2542 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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. Ref.8
Subunit structure	Interacts with PTPN11. Isoform 2 interacts with VPR. Ref.8 Ref.9
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. Ref.8 Ref.9 Ref.1
Sequence similarities	Belongs to the mask family. Contains 25 ANK repeats. Contains 1 KH domain.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Domain	ANK repeat Coiled coil Repeat
Ligand	RNA-binding
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	RNA binding Inferred from electronic annotation. Source: UniProtKB-KW protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
DISC1	Q9NRI5	6	EBI-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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2542	2542	Ankyrin repeat and KH domain-containing protein 1		PRO_0000306326
Regions
	Repeat	204 – 233	30	ANK 1
	Repeat	237 – 266	30	ANK 2
	Repeat	271 – 300	30	ANK 3
	Repeat	304 – 333	30	ANK 4
	Repeat	337 – 366	30	ANK 5
	Repeat	371 – 400	30	ANK 6
	Repeat	404 – 433	30	ANK 7
	Repeat	437 – 466	30	ANK 8
	Repeat	470 – 499	30	ANK 9
	Repeat	504 – 533	30	ANK 10
	Repeat	534 – 563	30	ANK 11
	Repeat	567 – 596	30	ANK 12
	Repeat	600 – 629	30	ANK 13
	Repeat	634 – 663	30	ANK 14
	Repeat	667 – 696	30	ANK 15
	Repeat	1054 – 1083	30	ANK 16
	Repeat	1087 – 1116	30	ANK 17
	Repeat	1121 – 1150	30	ANK 18
	Repeat	1154 – 1183	30	ANK 19
	Repeat	1189 – 1218	30	ANK 20
	Repeat	1223 – 1252	30	ANK 21
	Repeat	1256 – 1285	30	ANK 22
	Repeat	1291 – 1320	30	ANK 23
	Repeat	1324 – 1353	30	ANK 24
	Repeat	1357 – 1386	30	ANK 25
	Domain	1695 – 1759	65	KH
	Coiled coil	775 – 852	78	Potential
	Coiled coil	1415 – 1485	71	Potential
	Compositional bias	6 – 94	89	Gly-rich
	Compositional bias	1977 – 2100	124	Ser-rich
	Compositional bias	2291 – 2299	9	Poly-Ser
Amino acid modifications
	Modified residue	101	1	Phosphoserine
	Modified residue	1653	1	Phosphothreonine Ref.10
	Modified residue	1670	1	Phosphoserine
	Modified residue	1679	1	Phosphoserine
Natural variations
	Alternative sequence	154 – 164	11	Missing in isoform 3.		VSP_028452
	Alternative sequence	559 – 581	23	ANVHA…ENGHT → QAGGHEDYFGGHRSGQASGE GGL in isoform 5.		VSP_028453
	Alternative sequence	582 – 2542	1961	Missing in isoform 5.		VSP_028454
	Alternative sequence	595 – 627	33	EHESE…KGANV → DKQEDMKTILEGIDPAKHQV RVAFDACKLLRKE in isoform 2 and isoform 3.		VSP_028455
	Alternative sequence	628 – 2542	1915	Missing in isoform 2 and isoform 3.		VSP_028456
	Alternative sequence	2342 – 2343	2	SS → SCDSPIPSVSSGSSSPLSA in isoform 4.		VSP_028457
	Alternative sequence	2524 – 2542	19	IWPGT…LKYVN → VKWA in isoform 4.		VSP_028458
	Natural variant	175	1	L → M: dbSNP rs17850570. Ref.4		VAR_035291
	Natural variant	228	1	G → C: dbSNP rs17850572. Ref.4		VAR_035292
	Natural variant	1586	1	G → S: dbSNP rs1051309.		VAR_048281
	Natural variant	1760	1	N → S: dbSNP rs3752704.		VAR_035293

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2003. Version 1. Checksum: AB310E826A4134D0	FASTA	2,542	269,458
	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
	Isoform 2 (VBARP-L). Checksum: 141288C8EC9A42CB	FASTA	627	64,912
	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 GADLDKQEDM 610 620 KTILEGIDPA KHQVRVAFDA CKLLRKE
	Isoform 3. Checksum: 813BEFD05BB8753B	FASTA	616	63,884
	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 EAAAFADPEV LRRLTSSVSC ALDEAAAALT 190 200 210 220 230 240 RMKAENSHNA GQVDTRSLAE ACSDGDVNAV RKLLDEGRSV NEHTEEGESL LCLACSAGYY 250 260 270 280 290 300 ELAQVLLAMH ANVEDRGNKG DITPLMAASS GGYLDIVKLL LLHDADVNSQ SATGNTALTY 310 320 330 340 350 360 ACAGGFVDIV KVLLNEGANI EDHNENGHTP LMEAASAGHV EVARVLLDHG AGINTHSNEF 370 380 390 400 410 420 KESALTLACY KGHLDMVRFL LEAGADQEHK TDEMHTALME ACMDGHVEVA RLLLDSGAQV 430 440 450 460 470 480 NMPADSFESP LTLAACGGHV ELAALLIERG ANLEEVNDEG YTPLMEAARE GHEEMVALLL 490 500 510 520 530 540 AQGANINAQT EETQETALTL ACCGGFSEVA DFLIKAGADI ELGCSTPLME ASQEGHLELV 550 560 570 580 590 600 KYLLASGANV HATTATGDTA LTYACENGHT DVADVLLQAG ADLDKQEDMK TILEGIDPAK 610 HQVRVAFDAC KLLRKE
	Isoform 4. Checksum: CF2D5BAF8FF3D40D	FASTA	2,544	269,298
	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 NSCDSPIPSV SSGSSSPLSA TSAPPTLGQP KGVSASQDRK IPPPIGTERL ARIRQGGSVA 2410 2420 2430 2440 2450 2460 QAPAGTSFVA PVGHSGIWSF GVNAVSEGLS GWSQSVMGNH PMHQQLSDPS TFSQHQPMER 2470 2480 2490 2500 2510 2520 DDSGMVAPSN IFHQPMASGF VDFSKGLPIS MYGGTIIPSH PQLADVPGGP LFNGLHNPDP 2530 2540 AWNPMIKVIQ NSTECTDAQQ VKWA
	Isoform 5. Checksum: 1909744ED03FC919	FASTA	581	59,777
	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 EASQEGHLEL VKYLLASGQA GGHEDYFGGH RSGQASGEGG L

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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: 14702039] [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.
[6]	"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).
[7]	"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: 10470851] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1961-2542 (ISOFORM 4). Tissue: Brain.
[8]	"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: 16098192] [Abstract] Cited for: INTERACTION WITH VPR, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[9]	"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: 16956752] [Abstract] Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH PTPN11.
[10]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1653, MASS SPECTROMETRY.
[11]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[12]	"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: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1670 AND SER-1679, MASS SPECTROMETRY.
[13]	"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: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-101 AND SER-1670, MASS SPECTROMETRY. Tissue: T-cell.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF521882 mRNA. Translation: AAO14943.1. AF258557 mRNA. Translation: AAG23760.1. 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.
IPI	IPI00410680. IPI00556571. IPI00797397. IPI00815707. IPI00871927.
RefSeq	NP_060217.1. NP_060448.1. NP_065741.3. NP_078944.2.
UniGene	Hs.594084
3D structure databases
HSSP	HSSP built from PDB template 1N11 based on UniProtKB P16157.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8IWZ3. 2 interactions.
PTM databases
PhosphoSite	Q8IWZ3.
Proteomic databases
PRIDE	Q8IWZ3.
Genome annotation databases
Ensembl	ENST00000360839; ENSP00000354085; ENSG00000131503; Homo sapiens. [Genome view]
GeneID	404734. 54882.
KEGG	hsa:404734. hsa:54882.
UCSC	uc003lfo.1. human. uc003lfp.1. human. uc003lfr.1. human. uc010jfk.1. human.
Organism-specific databases
CTD	404734. 54882.
GeneCards	GC05P139763. GC05P139767.
HGNC	HGNC:24714. ANKHD1.
HPA	HPA008718.
MIM	610500. gene.
PharmGKB	PA134947858.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q8IWZ3.
Gene expression databases
ArrayExpress	Q8IWZ3.
Bgee	Q8IWZ3.
Genevestigator	Q8IWZ3.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR004087. KH. IPR004088. KH_type_1. IPR018111. KH_type_1_subgr. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 5 hits.
Pfam	PF00023. Ank. 25 hits. PF00013. KH_1. 1 hit. [Graphical view]
SMART	SM00248. ANK. 25 hits. SM00322. KH. 1 hit. [Graphical view]
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 20 hits. PS50084. KH_TYPE_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	57847.
SOURCE	Search...

Entry information

Entry name

ANKH1_HUMAN

Accession

Primary (citable) accession number: Q8IWZ3
Secondary accession number(s): Q149P2 , Q8WY90, Q96G77, Q96GK0, Q9H2U0, Q9HA95, Q9NWG4, Q9UPR7

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 2, 2007
Last sequence update:	March 1, 2003
Last modified:	November 24, 2009
This is version 58 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.