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Protein

Ankyrin repeat and SAM domain-containing protein 3

Gene

ANKS3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat and SAM domain-containing protein 3
Gene namesi
Name:ANKS3
Synonyms:KIAA1977
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:29422. ANKS3.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485303.

Polymorphism and mutation databases

BioMutaiANKS3.
DMDMi74749704.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 656656Ankyrin repeat and SAM domain-containing protein 3PRO_0000230777Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21PhosphoserineBy similarity
Modified residuei5 – 51PhosphoserineBy similarity
Modified residuei96 – 9613-hydroxyasparagineBy similarity
Modified residuei375 – 3751PhosphoserineBy similarity

Post-translational modificationi

Hydroxylated at Asn-96, most probably by HIF1AN.By similarity

Keywords - PTMi

Hydroxylation, Phosphoprotein

Proteomic databases

MaxQBiQ6ZW76.
PaxDbiQ6ZW76.
PRIDEiQ6ZW76.

PTM databases

iPTMnetiQ6ZW76.
PhosphoSiteiQ6ZW76.

Expressioni

Gene expression databases

BgeeiQ6ZW76.
CleanExiHS_ANKS3.
ExpressionAtlasiQ6ZW76. baseline and differential.
GenevisibleiQ6ZW76. HS.

Organism-specific databases

HPAiHPA041409.
HPA041482.

Interactioni

Subunit structurei

Interacts with ANKS6, BICC1, NPHP1 AND NEK8 (By similarity). Interacts with HIF1AN (By similarity).By similarity

Protein-protein interaction databases

BioGridi125861. 6 interactions.
IntActiQ6ZW76. 2 interactions.
MINTiMINT-2878533.
STRINGi9606.ENSP00000304586.

Structurei

Secondary structure

1
656
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi430 – 4367Combined sources
Helixi440 – 4423Combined sources
Helixi443 – 4486Combined sources
Helixi453 – 4564Combined sources
Helixi461 – 4677Combined sources
Helixi472 – 48413Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4NJ8X-ray1.60A/B421-490[»]
4NL9X-ray1.50A/B421-490[»]
ProteinModelPortaliQ6ZW76.
SMRiQ6ZW76. Positions 1-267, 422-485.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati34 – 6431ANK 1Add
BLAST
Repeati68 – 9730ANK 2Add
BLAST
Repeati101 – 13030ANK 3Add
BLAST
Repeati134 – 16330ANK 4Add
BLAST
Repeati168 – 19730ANK 5Add
BLAST
Repeati201 – 22020ANK 6Add
BLAST
Domaini425 – 48864SAMPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili501 – 52626Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi329 – 38254Ser-richAdd
BLAST

Sequence similaritiesi

Contains 6 ANK repeats.PROSITE-ProRule annotation
Contains 1 SAM (sterile alpha motif) domain.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00840000129724.
HOGENOMiHOG000033945.
HOVERGENiHBG056617.
InParanoidiQ6ZW76.
OMAiGHMKIVA.
OrthoDBiEOG76MK7T.
PhylomeDBiQ6ZW76.
TreeFamiTF331487.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
1.25.40.20. 3 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001660. SAM.
IPR013761. SAM/pointed.
[Graphical view]
PfamiPF12796. Ank_2. 2 hits.
PF00536. SAM_1. 1 hit.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 6 hits.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
SSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 4 hits.
PS50105. SAM_DOMAIN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q6ZW76-1) [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
MSELSDEASE PELLNRSLSM WHGLGTQVSG EELDVPLDLH TAASIGQYEV
60 70 80 90 100
VKECVQRREL DLNKKNGGGW TPLMYASYIG HDTIVHLLLE AGVSVNVPTP
110 120 130 140 150
EGQTPLMLAS SCGNESIAYF LLQQGAELEM KDIQGWTALF HCTSAGHQHM
160 170 180 190 200
VRFLLDSGAN ANVREPICGF TPLMEAAAAG HEIIVQYFLN HGVKVDARDH
210 220 230 240 250
SGATARMLAK QYGHMKIVAL MDTYSPSLPK SLYRSPEKYE DLSSSDESCP
260 270 280 290 300
APQRQRPCRK KGVSIHEGPR ALARITGIGL GGRAPRPRYE QAPPRGYVTF
310 320 330 340 350
NSSGENPLEE EGLCCRDVTS PINERDVESS SSSSSREEHA FCANLGPVQS
360 370 380 390 400
SSSSEGLARA QGLSSEASVE SNEDSDHACK SSARKQAKSY MKTKNPDSQW
410 420 430 440 450
PPRAATDREG FLAESSPQTQ RAPYSGPQDL AALLEQIGCL KYLQVFEEQD
460 470 480 490 500
VDLRIFLTLT ESDLKEIGIT LFGPKRKMTS AIARWHSSAR PPGDALELAY
510 520 530 540 550
ADRLEAEMQE LAIQLHKRCE EVEATRGQVC QEQELRAVVE SCLLEQDRAR
560 570 580 590 600
EDLQARLRET WALARDAALV LDQLRACQAE LSSRVRQDQP PGAATLGLAV
610 620 630 640 650
PPADSKGWQA SLQAMSLPEL SGALEDRVRE MGQALCLVTQ SLEKLQVLNG

KKWRET
Length:656
Mass (Da):72,038
Last modified:July 5, 2004 - v1
Checksum:i67BD772ED762A5BA
GO
Isoform 2 (identifier: Q6ZW76-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.

Note: No experimental confirmation available.
Show »
Length:583
Mass (Da):63,990
Checksum:iDF9E2FBF2C4F959A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti51 – 566VKECVQ → HILRLF in BAB85563 (PubMed:11853319).Curated
Sequence conflicti472 – 4721F → S in BAG63156 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti404 – 4041A → T.1 Publication
Corresponds to variant rs863980 [ dbSNP | Ensembl ].
VAR_048283
Natural varianti593 – 5931A → T.
Corresponds to variant rs9936675 [ dbSNP | Ensembl ].
VAR_048284

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7373Missing in isoform 2. 1 PublicationVSP_038183Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK123496 mRNA. Translation: BAC85629.1.
AK301683 mRNA. Translation: BAG63156.1.
CH471112 Genomic DNA. Translation: EAW85271.1.
CH471112 Genomic DNA. Translation: EAW85272.1.
CH471112 Genomic DNA. Translation: EAW85273.1.
AB075857 mRNA. Translation: BAB85563.1.
CCDSiCCDS10520.1. [Q6ZW76-1]
RefSeqiNP_001229858.1. NM_001242929.1.
NP_001295018.1. NM_001308089.1.
NP_597707.1. NM_133450.3. [Q6ZW76-1]
XP_005255176.1. XM_005255119.3.
XP_011520675.1. XM_011522373.1. [Q6ZW76-1]
UniGeneiHs.654859.

Genome annotation databases

EnsembliENST00000304283; ENSP00000304586; ENSG00000168096. [Q6ZW76-1]
ENST00000585773; ENSP00000465294; ENSG00000168096. [Q6ZW76-2]
ENST00000614075; ENSP00000480350; ENSG00000168096. [Q6ZW76-1]
GeneIDi124401.
KEGGihsa:124401.
UCSCiuc002cxj.3. human. [Q6ZW76-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK123496 mRNA. Translation: BAC85629.1.
AK301683 mRNA. Translation: BAG63156.1.
CH471112 Genomic DNA. Translation: EAW85271.1.
CH471112 Genomic DNA. Translation: EAW85272.1.
CH471112 Genomic DNA. Translation: EAW85273.1.
AB075857 mRNA. Translation: BAB85563.1.
CCDSiCCDS10520.1. [Q6ZW76-1]
RefSeqiNP_001229858.1. NM_001242929.1.
NP_001295018.1. NM_001308089.1.
NP_597707.1. NM_133450.3. [Q6ZW76-1]
XP_005255176.1. XM_005255119.3.
XP_011520675.1. XM_011522373.1. [Q6ZW76-1]
UniGeneiHs.654859.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4NJ8X-ray1.60A/B421-490[»]
4NL9X-ray1.50A/B421-490[»]
ProteinModelPortaliQ6ZW76.
SMRiQ6ZW76. Positions 1-267, 422-485.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125861. 6 interactions.
IntActiQ6ZW76. 2 interactions.
MINTiMINT-2878533.
STRINGi9606.ENSP00000304586.

PTM databases

iPTMnetiQ6ZW76.
PhosphoSiteiQ6ZW76.

Polymorphism and mutation databases

BioMutaiANKS3.
DMDMi74749704.

Proteomic databases

MaxQBiQ6ZW76.
PaxDbiQ6ZW76.
PRIDEiQ6ZW76.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304283; ENSP00000304586; ENSG00000168096. [Q6ZW76-1]
ENST00000585773; ENSP00000465294; ENSG00000168096. [Q6ZW76-2]
ENST00000614075; ENSP00000480350; ENSG00000168096. [Q6ZW76-1]
GeneIDi124401.
KEGGihsa:124401.
UCSCiuc002cxj.3. human. [Q6ZW76-1]

Organism-specific databases

CTDi124401.
GeneCardsiANKS3.
HGNCiHGNC:29422. ANKS3.
HPAiHPA041409.
HPA041482.
neXtProtiNX_Q6ZW76.
PharmGKBiPA143485303.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00840000129724.
HOGENOMiHOG000033945.
HOVERGENiHBG056617.
InParanoidiQ6ZW76.
OMAiGHMKIVA.
OrthoDBiEOG76MK7T.
PhylomeDBiQ6ZW76.
TreeFamiTF331487.

Miscellaneous databases

GenomeRNAii124401.
NextBioi81261.
PROiQ6ZW76.

Gene expression databases

BgeeiQ6ZW76.
CleanExiHS_ANKS3.
ExpressionAtlasiQ6ZW76. baseline and differential.
GenevisibleiQ6ZW76. HS.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
1.25.40.20. 3 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001660. SAM.
IPR013761. SAM/pointed.
[Graphical view]
PfamiPF12796. Ank_2. 2 hits.
PF00536. SAM_1. 1 hit.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 6 hits.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
SSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 4 hits.
PS50105. SAM_DOMAIN. 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] (ISOFORMS 1 AND 2), VARIANT THR-404.
    Tissue: Esophagus and Thalamus.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins."
    Nagase T., Kikuno R., Ohara O.
    DNA Res. 8:319-327(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 51-656.
    Tissue: Brain.

Entry informationi

Entry nameiANKS3_HUMAN
AccessioniPrimary (citable) accession number: Q6ZW76
Secondary accession number(s): B4DWU4, D3DUE2, Q8TF25
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 4, 2006
Last sequence update: July 5, 2004
Last modified: May 11, 2016
This is version 103 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. 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.