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Protein

Ankyrin repeat domain-containing protein 53

Gene

ANKRD53

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

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat domain-containing protein 53
Gene namesi
Name:ANKRD53
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:25691. ANKRD53.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA144596517.

Polymorphism and mutation databases

BioMutaiANKRD53.
DMDMi387912915.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 530530Ankyrin repeat domain-containing protein 53PRO_0000274490Add
BLAST

Proteomic databases

PaxDbiQ8N9V6.
PRIDEiQ8N9V6.

PTM databases

PhosphoSiteiQ8N9V6.

Expressioni

Gene expression databases

BgeeiQ8N9V6.
CleanExiHS_ANKRD53.
ExpressionAtlasiQ8N9V6. baseline and differential.
GenevisibleiQ8N9V6. HS.

Organism-specific databases

HPAiHPA049574.

Interactioni

Protein-protein interaction databases

BioGridi123057. 1 interaction.
STRINGi9606.ENSP00000353796.

Structurei

3D structure databases

ProteinModelPortaliQ8N9V6.
SMRiQ8N9V6. Positions 114-263.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati139 – 16931ANK 1Add
BLAST
Repeati173 – 20634ANK 2Add
BLAST
Repeati210 – 23930ANK 3Add
BLAST

Sequence similaritiesi

Contains 3 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG4177. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00390000005650.
HOGENOMiHOG000168815.
HOVERGENiHBG080857.
InParanoidiQ8N9V6.
OMAiCKPIDYC.
OrthoDBiEOG70089B.
PhylomeDBiQ8N9V6.
TreeFamiTF351267.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
[Graphical view]
SMARTiSM00248. ANK. 3 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N9V6-1) [UniParc]FASTAAdd to basket

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
MASAGSTARR AGSGSWHSER GEGRGARPQP TPSGSMQQAN KVSLKATWTD
60 70 80 90 100
AESKQPSQPL PDLADHLSAQ ATALARPRRP ASLTPPRADP SPSKESDQTA
110 120 130 140 150
IDQTAIGSYY QLFAAAVGNV EWLRFCLNQS LREIPTDDKG FTAIHFAAQW
160 170 180 190 200
GKLACLQVLV EEYKFPVDLL TNNSQTPLHL VIHRDNTTVA LPCIYYLLEK
210 220 230 240 250
GADLNAQTCN GSTPLHLAAR DGLLDCVKVL VQSGANVHAQ DAMGYKPIDF
260 270 280 290 300
CKIWNHRACA RFLKDAMWKK DKKDFAREMT KMKMFKSQLT LMEHNYLIEY
310 320 330 340 350
QKEHKILREA AIRKWLHGKL HPGHSLVSNT KQARATALSK TPEQRESQRS
360 370 380 390 400
RSFHPSVDAR LQCIPQPTEM PKPIYRKPTV KRPTMWNVSN NPARPPTTQI
410 420 430 440 450
SHSQGIRLGV HPDPTPEHDF SSFLEVRPDG HGGARLHTVD GHWVAPVPRL
460 470 480 490 500
PFEVLLRMLY PRVWPYRMKV PQGFYPISMR EVPRKRHLGD NTFWTDTLAM
510 520 530
NLRDTFDEAF LAAVRSHQGL PTLPSPQTNP
Length:530
Mass (Da):59,571
Last modified:May 16, 2012 - v3
Checksum:iEE6803C7A1DF349F
GO
Isoform 2 (identifier: Q8N9V6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     302-343: KEHKILREAA...RATALSKTPE → GQGCSVHFPF...FLWRRRELSF
     344-530: Missing.

Note: No experimental confirmation available.
Show »
Length:343
Mass (Da):38,200
Checksum:iD2DC537C27940A62
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti523 – 5231L → P in BAC04181 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti105 – 1051A → G.
Corresponds to variant rs35096506 [ dbSNP | Ensembl ].
VAR_061018
Natural varianti153 – 1531L → I.1 Publication
Corresponds to variant rs17853403 [ dbSNP | Ensembl ].
VAR_030300
Natural varianti243 – 2431M → T.
Corresponds to variant rs36123544 [ dbSNP | Ensembl ].
VAR_054427
Natural varianti349 – 3491R → L.
Corresponds to variant rs11688921 [ dbSNP | Ensembl ].
VAR_067464
Natural varianti431 – 4311H → L.1 Publication
Corresponds to variant rs3796100 [ dbSNP | Ensembl ].
VAR_067465

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei302 – 34342KEHKI…SKTPE → GQGCSVHFPFAFSPITPETL LWQDISLLSDCGFLWRRREL SF in isoform 2. 1 PublicationVSP_022768Add
BLAST
Alternative sequencei344 – 530187Missing in isoform 2. 1 PublicationVSP_022769Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK093479 mRNA. Translation: BAC04181.1.
AC007040 Genomic DNA. No translation available.
BC035234 mRNA. Translation: AAH35234.1.
CCDSiCCDS1913.1. [Q8N9V6-2]
CCDS46321.1. [Q8N9V6-1]
RefSeqiNP_001108588.1. NM_001115116.1. [Q8N9V6-1]
NP_079209.3. NM_024933.3. [Q8N9V6-2]
UniGeneiHs.512744.

Genome annotation databases

EnsembliENST00000272421; ENSP00000272421; ENSG00000144031. [Q8N9V6-2]
ENST00000360589; ENSP00000353796; ENSG00000144031. [Q8N9V6-1]
GeneIDi79998.
KEGGihsa:79998.
UCSCiuc002shk.5. human. [Q8N9V6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK093479 mRNA. Translation: BAC04181.1.
AC007040 Genomic DNA. No translation available.
BC035234 mRNA. Translation: AAH35234.1.
CCDSiCCDS1913.1. [Q8N9V6-2]
CCDS46321.1. [Q8N9V6-1]
RefSeqiNP_001108588.1. NM_001115116.1. [Q8N9V6-1]
NP_079209.3. NM_024933.3. [Q8N9V6-2]
UniGeneiHs.512744.

3D structure databases

ProteinModelPortaliQ8N9V6.
SMRiQ8N9V6. Positions 114-263.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123057. 1 interaction.
STRINGi9606.ENSP00000353796.

PTM databases

PhosphoSiteiQ8N9V6.

Polymorphism and mutation databases

BioMutaiANKRD53.
DMDMi387912915.

Proteomic databases

PaxDbiQ8N9V6.
PRIDEiQ8N9V6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000272421; ENSP00000272421; ENSG00000144031. [Q8N9V6-2]
ENST00000360589; ENSP00000353796; ENSG00000144031. [Q8N9V6-1]
GeneIDi79998.
KEGGihsa:79998.
UCSCiuc002shk.5. human. [Q8N9V6-1]

Organism-specific databases

CTDi79998.
GeneCardsiANKRD53.
HGNCiHGNC:25691. ANKRD53.
HPAiHPA049574.
neXtProtiNX_Q8N9V6.
PharmGKBiPA144596517.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4177. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00390000005650.
HOGENOMiHOG000168815.
HOVERGENiHBG080857.
InParanoidiQ8N9V6.
OMAiCKPIDYC.
OrthoDBiEOG70089B.
PhylomeDBiQ8N9V6.
TreeFamiTF351267.

Miscellaneous databases

GenomeRNAii79998.
NextBioi70064.
PROiQ8N9V6.

Gene expression databases

BgeeiQ8N9V6.
CleanExiHS_ANKRD53.
ExpressionAtlasiQ8N9V6. baseline and differential.
GenevisibleiQ8N9V6. HS.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
[Graphical view]
SMARTiSM00248. ANK. 3 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
[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] (ISOFORM 1), VARIANT LEU-431.
    Tissue: Testis.
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ILE-153.
    Tissue: Brain.

Entry informationi

Entry nameiANR53_HUMAN
AccessioniPrimary (citable) accession number: Q8N9V6
Secondary accession number(s): Q8IYP8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: May 16, 2012
Last modified: March 16, 2016
This is version 99 of the entry and version 3 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 2
    Human chromosome 2: 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.