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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...

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

PharmGKBiPA24806.

Polymorphism and mutation databases

BioMutaiANKEF1.
DMDMi20137528.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 776776Ankyrin repeat and EF-hand domain-containing protein 1PRO_0000066899Add
BLAST

Proteomic databases

MaxQBiQ9NU02.
PaxDbiQ9NU02.
PeptideAtlasiQ9NU02.
PRIDEiQ9NU02.

PTM databases

iPTMnetiQ9NU02.
PhosphoSiteiQ9NU02.

Expressioni

Gene expression databases

BgeeiQ9NU02.
CleanExiHS_ANKRD5.
GenevisibleiQ9NU02. HS.

Organism-specific databases

HPAiHPA041151.

Interactioni

Protein-protein interaction databases

BioGridi121995. 3 interactions.
IntActiQ9NU02. 2 interactions.
MINTiMINT-8417601.
STRINGi9606.ENSP00000367631.

Structurei

3D structure databases

ProteinModelPortaliQ9NU02.
SMRiQ9NU02. Positions 15-341, 457-718.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati47 – 7630ANK 1Add
BLAST
Repeati184 – 21330ANK 2Add
BLAST
Repeati217 – 24630ANK 3Add
BLAST
Repeati250 – 27930ANK 4Add
BLAST
Domaini335 – 36935EF-handPROSITE-ProRule annotationAdd
BLAST
Repeati524 – 55330ANK 5Add
BLAST
Repeati557 – 58630ANK 6Add
BLAST
Repeati590 – 61930ANK 7Add
BLAST
Repeati623 – 65230ANK 8Add
BLAST

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.
GeneTreeiENSGT00820000127028.
HOGENOMiHOG000033944.
HOVERGENiHBG056392.
InParanoidiQ9NU02.
OMAiCILPTKR.
OrthoDBiEOG773XFM.
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 BAB15111.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti74 – 741P → T.
Corresponds to variant rs7260784 [ dbSNP | Ensembl ].
VAR_033500
Natural varianti324 – 3241L → Q.
Corresponds to variant rs652633 [ dbSNP | Ensembl ].
VAR_024172
Natural varianti412 – 4121G → E.
Corresponds to variant rs524625 [ dbSNP | Ensembl ].
VAR_033501
Natural varianti694 – 6941K → N in a breast cancer sample; somatic mutation. 1 Publication
VAR_035609
Natural varianti742 – 7421R → Q.
Corresponds to variant rs6087119 [ dbSNP | Ensembl ].
VAR_033502

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. Positions 15-341, 457-718.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121995. 3 interactions.
IntActiQ9NU02. 2 interactions.
MINTiMINT-8417601.
STRINGi9606.ENSP00000367631.

PTM databases

iPTMnetiQ9NU02.
PhosphoSiteiQ9NU02.

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.
PharmGKBiPA24806.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4177. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00820000127028.
HOGENOMiHOG000033944.
HOVERGENiHBG056392.
InParanoidiQ9NU02.
OMAiCILPTKR.
OrthoDBiEOG773XFM.
PhylomeDBiQ9NU02.
TreeFamiTF351260.

Miscellaneous databases

GenomeRNAii63926.
PROiQ9NU02.

Gene expression databases

BgeeiQ9NU02.
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...

Publicationsi

  1. "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].
    Tissue: Colon and Testis.
  2. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-694.

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: July 6, 2016
This is version 125 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.