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UniProtKB - P16157 (ANK1_HUMAN)

Protein

Ankyrin-1

Gene

ANK1

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

Functioni

Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions.1 Publication
Isoform Mu17 together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils.1 Publication

GO - Molecular functioni

  • ATPase binding Source: BHF-UCL
  • cytoskeletal adaptor activity Source: BHF-UCL
  • enzyme binding Source: UniProtKB
  • spectrin binding Source: BHF-UCL
  • structural constituent of cytoskeleton Source: ProtInc
  • structural molecule activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

ReactomeiR-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-447038 NrCAM interactions
R-HSA-447041 CHL1 interactions
R-HSA-447043 Neurofascin interactions
R-HSA-6807878 COPI-mediated anterograde transport

Protein family/group databases

TCDBi8.A.28.1.2 the ankyrin (ankyrin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin-1
Short name:
ANK-1
Alternative name(s):
Ankyrin-R
Erythrocyte ankyrin
Gene namesi
Name:ANK1
Synonyms:ANK
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 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000029534.19
HGNCiHGNC:492 ANK1
MIMi612641 gene
neXtProtiNX_P16157

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Spherocytosis 1 (SPH1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spherocytosis, a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance can be autosomal dominant or autosomal recessive. Patients with homozygous mutations have a more severe disorder.
See also OMIM:182900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054991276L → R in SPH1. 1 Publication1
Natural variantiVAR_000596463V → I in SPH1. 1 PublicationCorresponds to variant dbSNP:rs140085544Ensembl.1
Natural variantiVAR_0549921054I → T in SPH1. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1824T → P: Abolishes interaction with OBSCN (in isoform Mu17). 1 Publication1
Mutagenesisi1826K → E: Abolishes interaction with OBSCN (in isoform Mu17). 1 Publication1
Mutagenesisi1829R → G: Abolishes interaction with OBSCN (in isoform Mu17). 1 Publication1
Mutagenesisi1830K → E: Abolishes interaction with OBSCN (in isoform Mu17). 1 Publication1

Keywords - Diseasei

Disease mutation, Elliptocytosis, Hereditary hemolytic anemia

Organism-specific databases

DisGeNETi286
MalaCardsiANK1
MIMi182900 phenotype
OpenTargetsiENSG00000029534
Orphaneti251066 8p11.2 deletion syndrome
822 Hereditary spherocytosis
PharmGKBiPA24798

Polymorphism and mutation databases

BioMutaiANK1
DMDMi116241246

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000668831 – 1881Ankyrin-1Add BLAST1881

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei105(3S)-3-hydroxyasparagine; by HIF1AN; partial1 Publication1
Modified residuei233(3S)-3-hydroxyasparagine; by HIF1AN; partial1 Publication1
Modified residuei429PhosphoserineCombined sources1
Modified residuei431(3S)-3-hydroxyasparagine; by HIF1AN; partial1 Publication1
Modified residuei464(3S)-3-hydroxyasparagine; by HIF1AN; partial1 Publication1
Modified residuei629(3S)-3-hydroxyasparagine; by HIF1AN; partial1 Publication1
Modified residuei662(3S)-3-hydroxyasparagine; by HIF1AN; partial1 Publication1
Modified residuei695(3S)-3-hydroxyaspartate; by HIF1AN; partial1 Publication1
Modified residuei728(3S)-3-hydroxyasparagine; by HIF1AN; partial1 Publication1
Modified residuei759PhosphoserineCombined sources1
Modified residuei761(3S)-3-hydroxyasparagine; by HIF1AN; partial1 Publication1
Modified residuei781PhosphoserineCombined sources1
Modified residuei817PhosphoserineCombined sources1
Modified residuei834PhosphoserineCombined sources1
Modified residuei856PhosphoserineCombined sources1
Modified residuei961PhosphothreonineBy similarity1
Modified residuei1073PhosphotyrosineBy similarity1
Modified residuei1082PhosphoserineBy similarity1
Modified residuei1378PhosphothreonineCombined sources1
Modified residuei1380PhosphothreonineCombined sources1
Modified residuei1390PhosphoserineBy similarity1
Modified residuei1392PhosphoserineBy similarity1
Modified residuei1396PhosphoserineCombined sources1
Modified residuei1400PhosphothreonineBy similarity1
Modified residuei1428PhosphoserineCombined sources1
Modified residuei1486PhosphoserineCombined sources1
Modified residuei1523PhosphoserineCombined sources1
Modified residuei1533PhosphoserineCombined sources1
Modified residuei1617PhosphoserineBy similarity1
Modified residuei1666PhosphoserineCombined sources1
Modified residuei1671PhosphoserineCombined sources1
Modified residuei1686PhosphoserineCombined sources1
Modified residuei1690PhosphoserineCombined sources1
Modified residuei1696PhosphoserineCombined sources1

Post-translational modificationi

Regulated by phosphorylation.
Palmitoylated.
Hydroxylated by HIF1AN at several asparagine and 1 aspartate residue within ANK repeat region. Hydroxylation seems to increase the conformational stability of this region and may also modulate protein-protein interactions mediated by the ANK repeat region.1 Publication

Keywords - PTMi

Hydroxylation, Lipoprotein, Phosphoprotein

Proteomic databases

MaxQBiP16157
PaxDbiP16157
PeptideAtlasiP16157
PRIDEiP16157
ProteomicsDBi53299
53300 [P16157-10]
53301 [P16157-11]
53302 [P16157-12]
53303 [P16157-13]
53304 [P16157-14]
53305 [P16157-15]
53306 [P16157-16]
53307 [P16157-17]
53308 [P16157-18]
53309 [P16157-19]
53310 [P16157-2]
53311 [P16157-20]
53312 [P16157-21]
53313 [P16157-3]
53314 [P16157-4]
53315 [P16157-5]
53316 [P16157-6]
53317 [P16157-7]
53318 [P16157-8]
53319 [P16157-9]

PTM databases

iPTMnetiP16157
PhosphoSitePlusiP16157

Miscellaneous databases

PMAP-CutDBiP16157

Expressioni

Tissue specificityi

Isoform Mu17, isoform Mu18, isoform Mu19 and isoform Mu20 are expressed in skeletal muscle. Isoform Br21 is expressed in brain.1 Publication

Gene expression databases

BgeeiENSG00000029534 Expressed in 165 organ(s), highest expression level in muscle of leg
CleanExiHS_ANK1
ExpressionAtlasiP16157 baseline and differential
GenevisibleiP16157 HS

Organism-specific databases

HPAiHPA004842
HPA056953

Interactioni

Subunit structurei

Interacts with a number of integral membrane proteins and cytoskeletal proteins. Interacts (via N-terminus) with SPTB/spectrin (beta chain). Interacts (via N-terminus ANK repeats) with SLC4A1/erythrocyte membrane protein band 3 (via cytoplasmic N-terminus). Also interacts with TTN/titin. Isoform Mu17 interacts with OBSCN isoform 3/obscurin. Interacts with HIF1AN.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
OBSCNQ5VST9-38EBI-941819,EBI-941921

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi106783, 23 interactors
IntActiP16157, 11 interactors
STRINGi9606.ENSP00000265709

Structurei

Secondary structure

11881
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP16157
SMRiP16157
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP16157

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati44 – 73ANK 1Add BLAST30
Repeati77 – 106ANK 2Add BLAST30
Repeati110 – 139ANK 3Add BLAST30
Repeati143 – 172ANK 4Add BLAST30
Repeati174 – 201ANK 5Add BLAST28
Repeati205 – 234ANK 6Add BLAST30
Repeati238 – 267ANK 7Add BLAST30
Repeati271 – 300ANK 8Add BLAST30
Repeati304 – 333ANK 9Add BLAST30
Repeati337 – 366ANK 10Add BLAST30
Repeati370 – 399ANK 11Add BLAST30
Repeati403 – 432ANK 12Add BLAST30
Repeati436 – 465ANK 13Add BLAST30
Repeati469 – 498ANK 14Add BLAST30
Repeati502 – 531ANK 15Add BLAST30
Repeati535 – 564ANK 16Add BLAST30
Repeati568 – 597ANK 17Add BLAST30
Repeati601 – 630ANK 18Add BLAST30
Repeati634 – 663ANK 19Add BLAST30
Repeati667 – 696ANK 20Add BLAST30
Repeati700 – 729ANK 21Add BLAST30
Repeati733 – 762ANK 22Add BLAST30
Repeati766 – 795ANK 23Add BLAST30
Domaini913 – 1068ZU5 1PROSITE-ProRule annotationAdd BLAST156
Domaini1070 – 1216ZU5 2PROSITE-ProRule annotationAdd BLAST147
Domaini1403 – 1487DeathPROSITE-ProRule annotationAdd BLAST85

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 82789 kDa domainAdd BLAST827
Regioni1234 – 1362UPA domainBy similarityAdd BLAST129
Regioni1383 – 188155 kDa regulatory domainAdd BLAST499

Domaini

The 55 kDa regulatory domain is involved in regulating binding of SPTB/spectrin (beta chain) and SLC4A1/erythrocyte membrane protein band 3.
The ANK repeat region forms a spiral around a large central cavity and is involved in binding of ion transporters.
The tandem configuration of the two ZU5 and the UPA domains forms a structural supramodule termed ZZU. ZU5-1 mediates interaction with beta-spectrin, and the ZU5-1/UPA interface is required for ankyrin's function other than binding to spectrin (By similarity).By similarity

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG4177 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00840000129677
HOGENOMiHOG000237351
HOVERGENiHBG059588
InParanoidiP16157
KOiK10380
OMAiAWNGYTP
OrthoDBiEOG091G00GN
PhylomeDBiP16157
TreeFamiTF351263

Family and domain databases

CDDicd00204 ANK, 6 hits
Gene3Di1.25.40.20, 3 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR011029 DEATH-like_dom_sf
IPR000488 Death_domain
IPR000906 ZU5_dom
PfamiView protein in Pfam
PF00023 Ank, 2 hits
PF12796 Ank_2, 9 hits
PF00531 Death, 1 hit
PF00791 ZU5, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 23 hits
SM00005 DEATH, 1 hit
SM00218 ZU5, 1 hit
SUPFAMiSSF47986 SSF47986, 1 hit
SSF48403 SSF48403, 2 hits
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 20 hits
PS50017 DEATH_DOMAIN, 1 hit
PS51145 ZU5, 2 hits

Sequences (23+)i

Sequence statusi: Complete.

This entry describes 23 isoformsi produced by alternative promoter usage and alternative splicing. AlignAdd to basket

This entry has 23 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform Er1 (identifier: P16157-1) [UniParc]FASTAAdd to basket
Also known as: 1, 2.1

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.

« Hide
        10         20         30         40         50
MPYSVGFREA DAATSFLRAA RSGNLDKALD HLRNGVDINT CNQNGLNGLH 
        60         70         80         90        100
LASKEGHVKM VVELLHKEII LETTTKKGNT ALHIAALAGQ DEVVRELVNY 
       110        120        130        140        150
GANVNAQSQK GFTPLYMAAQ ENHLEVVKFL LENGANQNVA TEDGFTPLAV 
       160        170        180        190        200
ALQQGHENVV AHLINYGTKG KVRLPALHIA ARNDDTRTAA VLLQNDPNPD 
       210        220        230        240        250
VLSKTGFTPL HIAAHYENLN VAQLLLNRGA SVNFTPQNGI TPLHIASRRG 
       260        270        280        290        300
NVIMVRLLLD RGAQIETKTK DELTPLHCAA RNGHVRISEI LLDHGAPIQA 
       310        320        330        340        350
KTKNGLSPIH MAAQGDHLDC VRLLLQYDAE IDDITLDHLT PLHVAAHCGH 
       360        370        380        390        400
HRVAKVLLDK GAKPNSRALN GFTPLHIACK KNHVRVMELL LKTGASIDAV 
       410        420        430        440        450
TESGLTPLHV ASFMGHLPIV KNLLQRGASP NVSNVKVETP LHMAARAGHT 
       460        470        480        490        500
EVAKYLLQNK AKVNAKAKDD QTPLHCAARI GHTNMVKLLL ENNANPNLAT 
       510        520        530        540        550
TAGHTPLHIA AREGHVETVL ALLEKEASQA CMTKKGFTPL HVAAKYGKVR 
       560        570        580        590        600
VAELLLERDA HPNAAGKNGL TPLHVAVHHN NLDIVKLLLP RGGSPHSPAW 
       610        620        630        640        650
NGYTPLHIAA KQNQVEVARS LLQYGGSANA ESVQGVTPLH LAAQEGHAEM 
       660        670        680        690        700
VALLLSKQAN GNLGNKSGLT PLHLVAQEGH VPVADVLIKH GVMVDATTRM 
       710        720        730        740        750
GYTPLHVASH YGNIKLVKFL LQHQADVNAK TKLGYSPLHQ AAQQGHTDIV 
       760        770        780        790        800
TLLLKNGASP NEVSSDGTTP LAIAKRLGYI SVTDVLKVVT DETSFVLVSD 
       810        820        830        840        850
KHRMSFPETV DEILDVSEDE GEELISFKAE RRDSRDVDEE KELLDFVPKL 
       860        870        880        890        900
DQVVESPAIP RIPCAMPETV VIRSEEQEQA SKEYDEDSLI PSSPATETSD 
       910        920        930        940        950
NISPVASPVH TGFLVSFMVD ARGGSMRGSR HNGLRVVIPP RTCAAPTRIT 
       960        970        980        990       1000
CRLVKPQKLS TPPPLAEEEG LASRIIALGP TGAQFLSPVI VEIPHFASHG 
      1010       1020       1030       1040       1050
RGDRELVVLR SENGSVWKEH RSRYGESYLD QILNGMDEEL GSLEELEKKR 
      1060       1070       1080       1090       1100
VCRIITTDFP LYFVIMSRLC QDYDTIGPEG GSLKSKLVPL VQATFPENAV 
      1110       1120       1130       1140       1150
TKRVKLALQA QPVPDELVTK LLGNQATFSP IVTVEPRRRK FHRPIGLRIP 
      1160       1170       1180       1190       1200
LPPSWTDNPR DSGEGDTTSL RLLCSVIGGT DQAQWEDITG TTKLVYANEC 
      1210       1220       1230       1240       1250
ANFTTNVSAR FWLSDCPRTA EAVNFATLLY KELTAVPYMA KFVIFAKMND 
      1260       1270       1280       1290       1300
PREGRLRCYC MTDDKVDKTL EQHENFVEVA RSRDIEVLEG MSLFAELSGN 
      1310       1320       1330       1340       1350
LVPVKKAAQQ RSFHFQSFRE NRLAMPVKVR DSSREPGGSL SFLRKAMKYE 
      1360       1370       1380       1390       1400
DTQHILCHLN ITMPPCAKGS GAEDRRRTPT PLALRYSILS ESTPGSLSGT 
      1410       1420       1430       1440       1450
EQAEMKMAVI SEHLGLSWAE LARELQFSVE DINRIRVENP NSLLEQSVAL 
      1460       1470       1480       1490       1500
LNLWVIREGQ NANMENLYTA LQSIDRGEIV NMLEGSGRQS RNLKPDRRHT 
      1510       1520       1530       1540       1550
DRDYSLSPSQ MNGYSSLQDE LLSPASLGCA LSSPLRADQY WNEVAVLDAI 
      1560       1570       1580       1590       1600
PLAATEHDTM LEMSDMQVWS AGLTPSLVTA EDSSLECSKA EDSDATGHEW 
      1610       1620       1630       1640       1650
KLEGALSEEP RGPELGSLEL VEDDTVDSDA TNGLIDLLEQ EEGQRSEEKL 
      1660       1670       1680       1690       1700
PGSKRQDDAT GAGQDSENEV SLVSGHQRGQ ARITHSPTVS QVTERSQDRL 
      1710       1720       1730       1740       1750
QDWDADGSIV SYLQDAAQGS WQEEVTQGPH SFQGTSTMTE GLEPGGSQEY 
      1760       1770       1780       1790       1800
EKVLVSVSEH TWTEQPEAES SQADRDRRQQ GQEEQVQEAK NTFTQVVQGN 
      1810       1820       1830       1840       1850
EFQNIPGEQV TEEQFTDEQG NIVTKKIIRK VVRQIDLSSA DAAQEHEEVT 
      1860       1870       1880 
VEGPLEDPSE LEVDIDYFMK HSKDHTSTPN P
Note: Major erythrocyte-specific isoform. Produced by alternative promoter usage.
Length:1,881
Mass (Da):206,265
Last modified:January 23, 2007 - v3
Checksum:i49466F6F915019EC
GO
Isoform Er2 (identifier: P16157-4) [UniParc]FASTAAdd to basket
Also known as: 2, 2.2

The sequence of this isoform differs from the canonical sequence as follows:
     1514-1675: Missing.

Note: Predominant form of minor erythrocyte-specific isoforms. Produced by alternative splicing of isoform Er1.
Show »
Length:1,719
Mass (Da):188,999
Checksum:i407D614678AF8EE0
GO
Isoform Er3 (identifier: P16157-5) [UniParc]FASTAAdd to basket
Also known as: 3

The sequence of this isoform differs from the canonical sequence as follows:
     1849-1873: Missing.

Note: Produced by alternative splicing of isoform Er1.
Show »
Length:1,856
Mass (Da):203,405
Checksum:iFEC7837B2E7711B8
GO
Isoform Er4 (identifier: P16157-6) [UniParc]FASTAAdd to basket
Also known as: 4

The sequence of this isoform differs from the canonical sequence as follows:
     1514-1675: Missing.
     1849-1873: Missing.

Note: Produced by alternative splicing of isoform Er1.
Show »
Length:1,694
Mass (Da):186,139
Checksum:iBB17E7510AE1067A
GO
Isoform Er5 (identifier: P16157-3) [UniParc]FASTAAdd to basket
Also known as: 5

The sequence of this isoform differs from the canonical sequence as follows:
     1850-1881: TVEGPLEDPSELEVDIDYFMKHSKDHTSTPNP → ELRGSGLQPDLIEGRKGAQIVKRASLKRGKQ

Note: Produced by alternative splicing of isoform Er1.
Show »
Length:1,880
Mass (Da):206,026
Checksum:i3153959168D8D91D
GO
Isoform Er6 (identifier: P16157-7) [UniParc]FASTAAdd to basket
Also known as: 6

The sequence of this isoform differs from the canonical sequence as follows:
     1514-1675: Missing.
     1850-1881: TVEGPLEDPSELEVDIDYFMKHSKDHTSTPNP → ELRGSGLQPDLIEGRKGAQIVKRASLKRGKQ

Note: Produced by alternative splicing of isoform Er1.
Show »
Length:1,718
Mass (Da):188,760
Checksum:i9A5DBC78974FD512
GO
Isoform Er7 (identifier: P16157-8) [UniParc]FASTAAdd to basket
Also known as: 7

The sequence of this isoform differs from the canonical sequence as follows:
     1827-1873: Missing.

Note: Produced by alternative splicing of isoform Er1.
Show »
Length:1,834
Mass (Da):200,915
Checksum:iB3735FA102F08B3D
GO
Isoform Er8 (identifier: P16157-9) [UniParc]FASTAAdd to basket
Also known as: 8

The sequence of this isoform differs from the canonical sequence as follows:
     1514-1675: Missing.
     1827-1873: Missing.

Show »
Length:1,672
Mass (Da):183,649
Checksum:i195930085EF487B7
GO
Isoform Er9 (identifier: P16157-10) [UniParc]FASTAAdd to basket
Also known as: 9

The sequence of this isoform differs from the canonical sequence as follows:
     1799-1873: Missing.

Note: Produced by alternative splicing of isoform Er1.
Show »
Length:1,806
Mass (Da):197,752
Checksum:iA50828175CF6AD01
GO
Isoform Er10 (identifier: P16157-11) [UniParc]FASTAAdd to basket
Also known as: 10

The sequence of this isoform differs from the canonical sequence as follows:
     1514-1675: Missing.
     1799-1873: Missing.

Note: Produced by alternative splicing of isoform Er1.
Show »
Length:1,644
Mass (Da):180,487
Checksum:i21DC6E7730722E51
GO
Isoform Er11 (identifier: P16157-12) [UniParc]FASTAAdd to basket
Also known as: 11

The sequence of this isoform differs from the canonical sequence as follows:
     1874-1881: DHTSTPNP → VELRGSGLQPDLIEGRKGAQIVKRASLKRGKQ

Note: Produced by alternative splicing of isoform Er1.
Show »
Length:1,905
Mass (Da):208,886
Checksum:i22CA0F47329C69FA
GO
Isoform Er12 (identifier: P16157-13) [UniParc]FASTAAdd to basket
Also known as: 12

The sequence of this isoform differs from the canonical sequence as follows:
     1514-1675: Missing.
     1874-1881: DHTSTPNP → VELRGSGLQPDLIEGRKGAQIVKRASLKRGKQ

Note: Produced by alternative splicing of isoform Er1.
Show »
Length:1,743
Mass (Da):191,620
Checksum:iAA2C9A6353D00A2C
GO
Isoform Er13 (identifier: P16157-14) [UniParc]FASTAAdd to basket
Also known as: 13

The sequence of this isoform differs from the canonical sequence as follows:
     1874-1881: DHTSTPNP → VLRRPRPWGT...KRASLKRGKQ

Note: Produced by alternative splicing of isoform Er1.
Show »
Length:1,983
Mass (Da):217,479
Checksum:i94434C72B761D98D
GO
Isoform Er14 (identifier: P16157-15) [UniParc]FASTAAdd to basket
Also known as: 14

The sequence of this isoform differs from the canonical sequence as follows:
     1514-1675: Missing.
     1874-1881: DHTSTPNP → VLRRPRPWGT...KRASLKRGKQ

Note: Produced by alternative splicing of isoform Er1.
Show »
Length:1,821
Mass (Da):200,214
Checksum:i748E485DAAC8FAAC
GO
Isoform Er15 (identifier: P16157-16) [UniParc]FASTAAdd to basket
Also known as: 15

The sequence of this isoform differs from the canonical sequence as follows:
     1827-1881: IIRKVVRQID...SKDHTSTPNP → VELRGSGLQPDLIEGRKGAQIVKRASLKRGKQ

Note: Produced by alternative splicing of isoform Er1.
Show »
Length:1,858
Mass (Da):203,536
Checksum:i1DFB26BFA488DCC4
GO
Isoform Er16 (identifier: P16157-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1513-1874: Missing.
     1875-1875: H → D

Note: Produced by alternative splicing of isoform Er1.
Show »
Length:1,519
Mass (Da):166,480
Checksum:i1D71CA896F1FDD7F
GO
Isoform Mu17 (identifier: P16157-17) [UniParc]FASTAAdd to basket
Also known as: ank1.5, muscle-specific 1

The sequence of this isoform differs from the canonical sequence as follows:
     1-1725: Missing.
     1726-1798: TQGPHSFQGT...AKNTFTQVVQ → MWTFVTQLLV...RVVRRRVFLK
     1850-1881: TVEGPLEDPSELEVDIDYFMKHSKDHTSTPNP → ELRGSGLQPDLIEGRKGAQIVKRASLKRGKQ

Note: Produced by alternative promoter usage.Curated
Show »
Length:155
Mass (Da):17,615
Checksum:i55C5EA3888044FFB
GO
Isoform Mu18 (identifier: P16157-18) [UniParc]FASTAAdd to basket
Also known as: ank1.6, muscle-specific 2

The sequence of this isoform differs from the canonical sequence as follows:
     1-1725: Missing.
     1726-1798: TQGPHSFQGT...AKNTFTQVVQ → MWTFVTQLLV...RVVRRRVFLK
     1827-1881: IIRKVVRQID...SKDHTSTPNP → VELRGSGLQPDLIEGRKGAQIVKRASLKRGKQ

Note: Produced by alternative splicing of isoform Mu17.
Show »
Length:133
Mass (Da):15,125
Checksum:iC987D8EF586B6704
GO
Isoform Mu19 (identifier: P16157-19) [UniParc]FASTAAdd to basket
Also known as: muscle-specific 3

The sequence of this isoform differs from the canonical sequence as follows:
     1-1725: Missing.
     1726-1798: TQGPHSFQGT...AKNTFTQVVQ → MWTFVTQLLV...RVVRRRVFLK
     1799-1873: Missing.

Note: Produced by alternative splicing of isoform Mu17.
Show »
Length:81
Mass (Da):9,342
Checksum:i6A4EA54308E3B04B
GO
Isoform Mu20 (identifier: P16157-20) [UniParc]FASTAAdd to basket
Also known as: muscle-specific 4

The sequence of this isoform differs from the canonical sequence as follows:
     1-1725: Missing.
     1726-1798: TQGPHSFQGT...AKNTFTQVVQ → MWTFVTQLLV...LCFVLKHIHQ
     1799-1881: GNEFQNIPGE...SKDHTSTPNP → VELRGSGLQPDLIEGRKGAQIVKRASLKRGKQ

Note: Produced by alternative splicing of isoform Mu17.
Show »
Length:74
Mass (Da):8,374
Checksum:iFA79EF4284FBDDEB
GO
Isoform Br21 (identifier: P16157-21) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MPYSVGFRE → MAQAAKQLKKIKDIEAQALQEQKEKEESNRKRRNRSRDRKKK
     820-820: E → EGTAHITIM
     1849-1873: Missing.

Note: No experimental confirmation available. Produced by alternative splicing of isoform Er1.
Show »
Length:1,897
Mass (Da):208,239
Checksum:i82682973D1A52BA2
GO
Isoform 22 (identifier: P16157-22) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1725: Missing.
     1726-1798: TQGPHSFQGT...AKNTFTQVVQ → MWTFVTQLLV...RVVRRRVFLK
     1826-1872: Missing.

Note: Produced by alternative splicing.
Show »
Length:109
Mass (Da):12,504
Checksum:iCA36067BFBD7B9A4
GO
Isoform 23 (identifier: P16157-23) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1725: Missing.
     1726-1798: TQGPHSFQGT...AKNTFTQVVQ → MWTFVTQLLV...RVVRRRVFLK

Show »
Length:156
Mass (Da):17,854
Checksum:iCE82F91038B0C57A
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YBS0H0YBS0_HUMAN
Ankyrin-1
ANK1
1,040Annotation score:
C9JN86C9JN86_HUMAN
Ankyrin-1
ANK1
113Annotation score:
Q6PK32Q6PK32_HUMAN
ANK1 protein
ANK1
131Annotation score:
H0YAY8H0YAY8_HUMAN
Ankyrin-1
ANK1
177Annotation score:
A0A2R8Y4B0A0A2R8Y4B0_HUMAN
Ankyrin-1
ANK1
553Annotation score:

Sequence cautioni

The sequence AAB47805 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti230A → S in AAA51732 (PubMed:1689849).Curated1
Sequence conflicti801K → L in AAB47805 (PubMed:9235914).Curated1
Sequence conflicti845D → R AA sequence (PubMed:2137557).Curated1
Sequence conflicti902I → T in AAB47805 (PubMed:9235914).Curated1
Isoform Mu17 (identifier: P16157-17)
Sequence conflicti63T → P in AAC01950 (PubMed:9430667).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00059521R → T. 1
Natural variantiVAR_054991276L → R in SPH1. 1 Publication1
Natural variantiVAR_035605332D → H in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_000596463V → I in SPH1. 1 PublicationCorresponds to variant dbSNP:rs140085544Ensembl.1
Natural variantiVAR_000597619R → H in Brueggen. Corresponds to variant dbSNP:rs2304877EnsemblClinVar.1
Natural variantiVAR_028769733L → I. Corresponds to variant dbSNP:rs11778936Ensembl.1
Natural variantiVAR_000598750V → A1 Publication1
Natural variantiVAR_061012832R → Q. Corresponds to variant dbSNP:rs34523608EnsemblClinVar.1
Natural variantiVAR_000599845D → E. 1
Natural variantiVAR_026411991V → L1 Publication1
Natural variantiVAR_0549921054I → T in SPH1. 1 Publication1
Natural variantiVAR_0482631075T → I4 PublicationsCorresponds to variant dbSNP:rs35213384EnsemblClinVar.1
Natural variantiVAR_0287701126A → P. Corresponds to variant dbSNP:rs504465Ensembl.1
Natural variantiVAR_0287711192T → P. Corresponds to variant dbSNP:rs486770Ensembl.1
Natural variantiVAR_0006011286E → D1 Publication1
Natural variantiVAR_0287721325M → V. Corresponds to variant dbSNP:rs10093583EnsemblClinVar.1
Natural variantiVAR_0006001392S → T. 1
Natural variantiVAR_0287731546V → I1 PublicationCorresponds to variant dbSNP:rs1060130EnsemblClinVar.1
Natural variantiVAR_0006021592D → N in Duesseldorf. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0184401 – 1725Missing in isoform Mu17, isoform Mu18, isoform Mu19, isoform Mu20, isoform 22 and isoform 23. 2 PublicationsAdd BLAST1725
Alternative sequenceiVSP_0184391 – 9MPYSVGFRE → MAQAAKQLKKIKDIEAQALQ EQKEKEESNRKRRNRSRDRK KK in isoform Br21. 1 Publication9
Alternative sequenceiVSP_018441820E → EGTAHITIM in isoform Br21. 1 Publication1
Alternative sequenceiVSP_0002641513 – 1874Missing in isoform Er16. 1 PublicationAdd BLAST362
Alternative sequenceiVSP_0184421514 – 1675Missing in isoform Er2, isoform Er4, isoform Er6, isoform Er8, isoform Er10, isoform Er12 and isoform Er14. 1 PublicationAdd BLAST162
Alternative sequenceiVSP_0184431726 – 1798TQGPH…TQVVQ → MWTFVTQLLVTLVLLSFFLV SCQNVMHIVRGSLCFVLKHI HQELDKELGESEGLSDDEET ISTRVVRRRVFLK in isoform Mu17, isoform Mu18, isoform Mu19, isoform 22 and isoform 23. 2 PublicationsAdd BLAST73
Alternative sequenceiVSP_0184441726 – 1798TQGPH…TQVVQ → MWTFVTQLLVTLVLLSFFLV SCQNVMHIVRGSLCFVLKHI HQ in isoform Mu20. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_0184461799 – 1881GNEFQ…STPNP → VELRGSGLQPDLIEGRKGAQ IVKRASLKRGKQ in isoform Mu20. 1 PublicationAdd BLAST83
Alternative sequenceiVSP_0184451799 – 1873Missing in isoform Er9, isoform Er10 and isoform Mu19. 1 PublicationAdd BLAST75
Alternative sequenceiVSP_0454391826 – 1872Missing in isoform 22. 1 PublicationAdd BLAST47
Alternative sequenceiVSP_0184481827 – 1881IIRKV…STPNP → VELRGSGLQPDLIEGRKGAQ IVKRASLKRGKQ in isoform Er15 and isoform Mu18. 1 PublicationAdd BLAST55
Alternative sequenceiVSP_0184471827 – 1873Missing in isoform Er7 and isoform Er8. CuratedAdd BLAST47
Alternative sequenceiVSP_0184491849 – 1873Missing in isoform Er3, isoform Er4 and isoform Br21. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_0002661850 – 1881TVEGP…STPNP → ELRGSGLQPDLIEGRKGAQI VKRASLKRGKQ in isoform Er5, isoform Er6 and isoform Mu17. 3 PublicationsAdd BLAST32
Alternative sequenceiVSP_0184501874 – 1881DHTSTPNP → VELRGSGLQPDLIEGRKGAQ IVKRASLKRGKQ in isoform Er11 and isoform Er12. Curated8
Alternative sequenceiVSP_0184511874 – 1881DHTSTPNP → VLRRPRPWGTQRHHCCLALP GRLHDTSLHSPLYELSLQSL FSLVGSVSAPPCRSFRSSAC VLPVFAICPAFCLCCCLQVE LRGSGLQPDLIEGRKGAQIV KRASLKRGKQ in isoform Er13 and isoform Er14. Curated8
Alternative sequenceiVSP_0002651875H → D in isoform Er16. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X16609 mRNA Translation: CAA34610.1
X16609 mRNA Translation: CAA34611.1
M28880 mRNA Translation: AAA51732.1
U50133
, U50092, U50093, U50094, U50095, U50096, U50097, U50098, U50099, U50100, U50101, U50102, U50103, U50104, U50105, U50106, U50107, U50108, U50109, U50110, U50111, U50112, U50113, U50114, U50115, U50116, U50117, U50118, U50119, U50120, U50121, U50122, U50123, U50124, U50125, U50126, U50127, U50128, U50129, U50130, U50131, U50132 Genomic DNA Translation: AAB47805.1 Sequence problems.
AF005213 mRNA Translation: AAC01950.1
AB209418 mRNA Translation: BAD92655.1
AK223578 mRNA Translation: BAD97298.1
AC027702 Genomic DNA No translation available.
AC113133 Genomic DNA No translation available.
CH471080 Genomic DNA Translation: EAW63243.1
CH471080 Genomic DNA Translation: EAW63244.1
BC030957 mRNA Translation: AAH30957.1
BC117121 mRNA Translation: AAI17122.1
BC014467 mRNA No translation available.
CCDSiCCDS47849.1 [P16157-21]
CCDS55227.1 [P16157-23]
CCDS6119.1 [P16157-1]
CCDS6120.1 [P16157-22]
CCDS6121.1 [P16157-3]
CCDS6122.1 [P16157-17]
PIRiA35049
S08275 SJHUK
RefSeqiNP_000028.3, NM_000037.3 [P16157-3]
NP_001135917.1, NM_001142445.1 [P16157-23]
NP_001135918.1, NM_001142446.1 [P16157-21]
NP_065208.2, NM_020475.2 [P16157-5]
NP_065209.2, NM_020476.2 [P16157-1]
NP_065210.2, NM_020477.2 [P16157-4]
NP_065211.2, NM_020478.4 [P16157-17]
NP_065213.2, NM_020480.4 [P16157-22]
UniGeneiHs.654438
Hs.667377
Hs.708861

Genome annotation databases

EnsembliENST00000265709; ENSP00000265709; ENSG00000029534 [P16157-21]
ENST00000289734; ENSP00000289734; ENSG00000029534 [P16157-3]
ENST00000314214; ENSP00000319123; ENSG00000029534 [P16157-17]
ENST00000347528; ENSP00000339620; ENSG00000029534 [P16157-1]
ENST00000348036; ENSP00000297744; ENSG00000029534 [P16157-22]
ENST00000522543; ENSP00000430368; ENSG00000029534 [P16157-23]
GeneIDi286
KEGGihsa:286
UCSCiuc003xoc.4 human [P16157-1]

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Ankyrin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X16609 mRNA Translation: CAA34610.1
X16609 mRNA Translation: CAA34611.1
M28880 mRNA Translation: AAA51732.1
U50133
, U50092, U50093, U50094, U50095, U50096, U50097, U50098, U50099, U50100, U50101, U50102, U50103, U50104, U50105, U50106, U50107, U50108, U50109, U50110, U50111, U50112, U50113, U50114, U50115, U50116, U50117, U50118, U50119, U50120, U50121, U50122, U50123, U50124, U50125, U50126, U50127, U50128, U50129, U50130, U50131, U50132 Genomic DNA Translation: AAB47805.1 Sequence problems.
AF005213 mRNA Translation: AAC01950.1
AB209418 mRNA Translation: BAD92655.1
AK223578 mRNA Translation: BAD97298.1
AC027702 Genomic DNA No translation available.
AC113133 Genomic DNA No translation available.
CH471080 Genomic DNA Translation: EAW63243.1
CH471080 Genomic DNA Translation: EAW63244.1
BC030957 mRNA Translation: AAH30957.1
BC117121 mRNA Translation: AAI17122.1
BC014467 mRNA No translation available.
CCDSiCCDS47849.1 [P16157-21]
CCDS55227.1 [P16157-23]
CCDS6119.1 [P16157-1]
CCDS6120.1 [P16157-22]
CCDS6121.1 [P16157-3]
CCDS6122.1 [P16157-17]
PIRiA35049
S08275 SJHUK
RefSeqiNP_000028.3, NM_000037.3 [P16157-3]
NP_001135917.1, NM_001142445.1 [P16157-23]
NP_001135918.1, NM_001142446.1 [P16157-21]
NP_065208.2, NM_020475.2 [P16157-5]
NP_065209.2, NM_020476.2 [P16157-1]
NP_065210.2, NM_020477.2 [P16157-4]
NP_065211.2, NM_020478.4 [P16157-17]
NP_065213.2, NM_020480.4 [P16157-22]
UniGeneiHs.654438
Hs.667377
Hs.708861

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1N11X-ray2.70A402-827[»]
2YQFNMR-A1394-1497[»]
2YVIX-ray1.92A1394-1497[»]
3F59X-ray2.00A/B/C/D911-1068[»]
3KBTX-ray2.75C/D911-1068[»]
3KBUX-ray2.75C/D911-1068[»]
3UD1X-ray2.00A/B/C911-1233[»]
3UD2X-ray2.21A/B/C911-1233[»]
ProteinModelPortaliP16157
SMRiP16157
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106783, 23 interactors
IntActiP16157, 11 interactors
STRINGi9606.ENSP00000265709

Protein family/group databases

TCDBi8.A.28.1.2 the ankyrin (ankyrin) family

PTM databases

iPTMnetiP16157
PhosphoSitePlusiP16157

Polymorphism and mutation databases

BioMutaiANK1
DMDMi116241246

Proteomic databases

MaxQBiP16157
PaxDbiP16157
PeptideAtlasiP16157
PRIDEiP16157
ProteomicsDBi53299
53300 [P16157-10]
53301 [P16157-11]
53302 [P16157-12]
53303 [P16157-13]
53304 [P16157-14]
53305 [P16157-15]
53306 [P16157-16]
53307 [P16157-17]
53308 [P16157-18]
53309 [P16157-19]
53310 [P16157-2]
53311 [P16157-20]
53312 [P16157-21]
53313 [P16157-3]
53314 [P16157-4]
53315 [P16157-5]
53316 [P16157-6]
53317 [P16157-7]
53318 [P16157-8]
53319 [P16157-9]

Protocols and materials databases

DNASUi286
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265709; ENSP00000265709; ENSG00000029534 [P16157-21]
ENST00000289734; ENSP00000289734; ENSG00000029534 [P16157-3]
ENST00000314214; ENSP00000319123; ENSG00000029534 [P16157-17]
ENST00000347528; ENSP00000339620; ENSG00000029534 [P16157-1]
ENST00000348036; ENSP00000297744; ENSG00000029534 [P16157-22]
ENST00000522543; ENSP00000430368; ENSG00000029534 [P16157-23]
GeneIDi286
KEGGihsa:286
UCSCiuc003xoc.4 human [P16157-1]

Organism-specific databases

CTDi286
DisGeNETi286
EuPathDBiHostDB:ENSG00000029534.19
GeneCardsiANK1
HGNCiHGNC:492 ANK1
HPAiHPA004842
HPA056953
MalaCardsiANK1
MIMi182900 phenotype
612641 gene
neXtProtiNX_P16157
OpenTargetsiENSG00000029534
Orphaneti251066 8p11.2 deletion syndrome
822 Hereditary spherocytosis
PharmGKBiPA24798
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4177 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00840000129677
HOGENOMiHOG000237351
HOVERGENiHBG059588
InParanoidiP16157
KOiK10380
OMAiAWNGYTP
OrthoDBiEOG091G00GN
PhylomeDBiP16157
TreeFamiTF351263

Enzyme and pathway databases

ReactomeiR-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-447038 NrCAM interactions
R-HSA-447041 CHL1 interactions
R-HSA-447043 Neurofascin interactions
R-HSA-6807878 COPI-mediated anterograde transport

Miscellaneous databases

ChiTaRSiANK1 human
EvolutionaryTraceiP16157
GeneWikiiANK1
GenomeRNAii286
PMAP-CutDBiP16157
PROiPR:P16157
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000029534 Expressed in 165 organ(s), highest expression level in muscle of leg
CleanExiHS_ANK1
ExpressionAtlasiP16157 baseline and differential
GenevisibleiP16157 HS

Family and domain databases

CDDicd00204 ANK, 6 hits
Gene3Di1.25.40.20, 3 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR011029 DEATH-like_dom_sf
IPR000488 Death_domain
IPR000906 ZU5_dom
PfamiView protein in Pfam
PF00023 Ank, 2 hits
PF12796 Ank_2, 9 hits
PF00531 Death, 1 hit
PF00791 ZU5, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 23 hits
SM00005 DEATH, 1 hit
SM00218 ZU5, 1 hit
SUPFAMiSSF47986 SSF47986, 1 hit
SSF48403 SSF48403, 2 hits
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 20 hits
PS50017 DEATH_DOMAIN, 1 hit
PS51145 ZU5, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiANK1_HUMAN
AccessioniPrimary (citable) accession number: P16157
Secondary accession number(s): A0PJN8
, A6NJ23, E5RFL7, O43400, Q13768, Q53ER1, Q59FP2, Q8N604, Q99407
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: January 23, 2007
Last modified: October 10, 2018
This is version 208 of the entry and version 3 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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