Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Ankyrin repeat and EF-hand domain-containing protein 1

Gene

ANKEF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000132623-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat and EF-hand domain-containing protein 1
Alternative name(s):
Ankyrin repeat domain-containing protein 5
Gene namesi
Name:ANKEF1
Synonyms:ANKRD5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:15803. ANKEF1.

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000132623.
PharmGKBiPA24806.

Polymorphism and mutation databases

BioMutaiANKEF1.
DMDMi20137528.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000668991 – 776Ankyrin repeat and EF-hand domain-containing protein 1Add BLAST776

Proteomic databases

MaxQBiQ9NU02.
PaxDbiQ9NU02.
PeptideAtlasiQ9NU02.
PRIDEiQ9NU02.

PTM databases

iPTMnetiQ9NU02.
PhosphoSitePlusiQ9NU02.

Expressioni

Gene expression databases

BgeeiENSG00000132623.
CleanExiHS_ANKRD5.
GenevisibleiQ9NU02. HS.

Organism-specific databases

HPAiHPA041151.

Interactioni

Protein-protein interaction databases

BioGridi121995. 3 interactors.
IntActiQ9NU02. 3 interactors.
MINTiMINT-8417601.
STRINGi9606.ENSP00000367631.

Structurei

3D structure databases

ProteinModelPortaliQ9NU02.
SMRiQ9NU02.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati47 – 76ANK 1Add BLAST30
Repeati184 – 213ANK 2Add BLAST30
Repeati217 – 246ANK 3Add BLAST30
Repeati250 – 279ANK 4Add BLAST30
Domaini335 – 369EF-handPROSITE-ProRule annotationAdd BLAST35
Repeati524 – 553ANK 5Add BLAST30
Repeati557 – 586ANK 6Add BLAST30
Repeati590 – 619ANK 7Add BLAST30
Repeati623 – 652ANK 8Add BLAST30

Sequence similaritiesi

Contains 8 ANK repeats.PROSITE-ProRule annotation
Contains 1 EF-hand domain.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG4177. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00860000133759.
HOGENOMiHOG000033944.
HOVERGENiHBG056392.
InParanoidiQ9NU02.
OMAiCILPTKR.
OrthoDBiEOG091G06W5.
PhylomeDBiQ9NU02.
TreeFamiTF351260.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
1.25.40.20. 3 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF00023. Ank. 1 hit.
PF12796. Ank_2. 2 hits.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 11 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF48403. SSF48403. 2 hits.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 6 hits.
PS50222. EF_HAND_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9NU02-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MALADKRLEN LQIYKVLQCV RNKDKKQIEK LTKLGYPELI NYTEPINGLS
60 70 80 90 100
ALHLASVSND IDMVSFLLDL GAHPDVQDRM GCTPTMRAAE LGHELSMEIL
110 120 130 140 150
AKAKADMTIV DNEGKGVLFY CILPTKRHYR CALIALEHGA DVNNSTYEGK
160 170 180 190 200
PIFLRACEDA HDVKDVCLTF LEKGANPNAI NSSTGRTALM EASREGVVEI
210 220 230 240 250
VRGILERGGE VNAFDNDRHH AAHFAAKGGF FDILKLLFAY NGDVGLISIN
260 270 280 290 300
GNTPLHYAAM GGFADCCKYI AQRGCDLKWK NLDHKTPRAV AKEGGFKAAS
310 320 330 340 350
KEIRRAERIA NKLARPGAKN PNPLWALRLH DWSVEREAFL REAFAVLDRG
360 370 380 390 400
DGSISKNDFV MVLEERQDYA SSEQLAAIAH LHEKTRGGGV NINEFFKGTR
410 420 430 440 450
YLNKSFVLGS YGPKKKEKGM GKKGKKGKFV LPLPICVIPE YAFPRRQDGG
460 470 480 490 500
PPYYMIETYK NVTDSSRFNR DHPPEHPIQD DSVWYIDDSE KVFSNINIIT
510 520 530 540 550
KAGDLASLKK AFESGIPVDM KDNYYKTPLM TACASGNIDV VKFLLEKGAN
560 570 580 590 600
VNATDNFLWT PLHFACHAGQ QDIVELLVES GALIDAASIN NSTPLNRAIE
610 620 630 640 650
SCRLDTVKYL LDIGAKFQLE NRKGHSAMDV AKAYADYRII DLIKEKLDNL
660 670 680 690 700
PKPAENQKLK GKTPPILKTE GPEIKKEEEL LSSIYGVPTT SEGKKVQKGN
710 720 730 740 750
VVHLNSLITS GYTKKVDITF IPRRIWSPEA TTAELIRKRE LRRERFTHEV
760 770
DFDDFMMPFQ KNITEKARAL EAALKT
Length:776
Mass (Da):86,664
Last modified:June 1, 2001 - v2
Checksum:i2F71F35AC4D337B6
GO

Sequence cautioni

The sequence BAB15111 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03350074P → T.Corresponds to variant rs7260784dbSNPEnsembl.1
Natural variantiVAR_024172324L → Q.Corresponds to variant rs652633dbSNPEnsembl.1
Natural variantiVAR_033501412G → E.Corresponds to variant rs524625dbSNPEnsembl.1
Natural variantiVAR_035609694K → N in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_033502742R → Q.Corresponds to variant rs6087119dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK025322 mRNA. Translation: BAB15111.1. Different initiation.
AK097689 mRNA. Translation: BAG53512.1.
AL109754 Genomic DNA. Translation: CAB87618.2.
CH471133 Genomic DNA. Translation: EAX10355.1.
CCDSiCCDS13108.1.
RefSeqiNP_001290401.1. NM_001303472.1.
NP_071379.3. NM_022096.5.
NP_942093.1. NM_198798.2.
UniGeneiHs.70903.

Genome annotation databases

EnsembliENST00000378380; ENSP00000367631; ENSG00000132623.
ENST00000378392; ENSP00000367644; ENSG00000132623.
GeneIDi63926.
KEGGihsa:63926.
UCSCiuc002wno.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK025322 mRNA. Translation: BAB15111.1. Different initiation.
AK097689 mRNA. Translation: BAG53512.1.
AL109754 Genomic DNA. Translation: CAB87618.2.
CH471133 Genomic DNA. Translation: EAX10355.1.
CCDSiCCDS13108.1.
RefSeqiNP_001290401.1. NM_001303472.1.
NP_071379.3. NM_022096.5.
NP_942093.1. NM_198798.2.
UniGeneiHs.70903.

3D structure databases

ProteinModelPortaliQ9NU02.
SMRiQ9NU02.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121995. 3 interactors.
IntActiQ9NU02. 3 interactors.
MINTiMINT-8417601.
STRINGi9606.ENSP00000367631.

PTM databases

iPTMnetiQ9NU02.
PhosphoSitePlusiQ9NU02.

Polymorphism and mutation databases

BioMutaiANKEF1.
DMDMi20137528.

Proteomic databases

MaxQBiQ9NU02.
PaxDbiQ9NU02.
PeptideAtlasiQ9NU02.
PRIDEiQ9NU02.

Protocols and materials databases

DNASUi63926.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378380; ENSP00000367631; ENSG00000132623.
ENST00000378392; ENSP00000367644; ENSG00000132623.
GeneIDi63926.
KEGGihsa:63926.
UCSCiuc002wno.4. human.

Organism-specific databases

CTDi63926.
GeneCardsiANKEF1.
H-InvDBHIX0015638.
HGNCiHGNC:15803. ANKEF1.
HPAiHPA041151.
neXtProtiNX_Q9NU02.
OpenTargetsiENSG00000132623.
PharmGKBiPA24806.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4177. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00860000133759.
HOGENOMiHOG000033944.
HOVERGENiHBG056392.
InParanoidiQ9NU02.
OMAiCILPTKR.
OrthoDBiEOG091G06W5.
PhylomeDBiQ9NU02.
TreeFamiTF351260.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000132623-MONOMER.

Miscellaneous databases

GenomeRNAii63926.
PROiQ9NU02.

Gene expression databases

BgeeiENSG00000132623.
CleanExiHS_ANKRD5.
GenevisibleiQ9NU02. HS.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
1.25.40.20. 3 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF00023. Ank. 1 hit.
PF12796. Ank_2. 2 hits.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 11 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF48403. SSF48403. 2 hits.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 6 hits.
PS50222. EF_HAND_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiANKE1_HUMAN
AccessioniPrimary (citable) accession number: Q9NU02
Secondary accession number(s): B3KUQ0, Q9H6Y9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: June 1, 2001
Last modified: November 30, 2016
This is version 129 of the entry and version 2 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 20
    Human chromosome 20: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.