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Protein

Ankyrin repeat and LEM domain-containing protein 1

Gene

ANKLE1

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

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat and LEM domain-containing protein 1
Alternative name(s):
Ankyrin repeat domain-containing protein 41
LEM-domain containing protein 3
Gene namesi
Name:ANKLE1
Synonyms:ANKRD41, LEM3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:26812. ANKLE1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162376509.

Polymorphism and mutation databases

DMDMi308153409.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 615615Ankyrin repeat and LEM domain-containing protein 1PRO_0000244370Add
BLAST

Proteomic databases

PaxDbiQ8NAG6.
PRIDEiQ8NAG6.

PTM databases

PhosphoSiteiQ8NAG6.

Expressioni

Gene expression databases

BgeeiQ8NAG6.
ExpressionAtlasiQ8NAG6. baseline and differential.
GenevisibleiQ8NAG6. HS.

Organism-specific databases

HPAiHPA026789.

Interactioni

Protein-protein interaction databases

BioGridi126001. 2 interactions.
STRINGi9606.ENSP00000377971.

Structurei

3D structure databases

ProteinModelPortaliQ8NAG6.
SMRiQ8NAG6. Positions 23-129.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati39 – 7133ANK 1Add
BLAST
Repeati75 – 10430ANK 2Add
BLAST
Repeati108 – 13730ANK 3Add
BLAST
Domaini355 – 39945LEMPROSITE-ProRule annotationAdd
BLAST
Domaini448 – 566119GIY-YIGPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi582 – 5854Poly-Arg

Sequence similaritiesi

Contains 3 ANK repeats.PROSITE-ProRule annotation
Contains 1 GIY-YIG domain.PROSITE-ProRule annotation
Contains 1 LEM domain.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiNOG137615.
HOGENOMiHOG000015588.
HOVERGENiHBG079451.
InParanoidiQ8NAG6.
OMAiDAHLWEA.
OrthoDBiEOG7ZWD3N.
PhylomeDBiQ8NAG6.
TreeFamiTF319333.

Family and domain databases

Gene3Di1.10.720.40. 1 hit.
1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000305. GIY-YIG_SF.
IPR011015. LEM/LEM-like_dom.
IPR003887. LEM_dom.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
PF03020. LEM. 1 hit.
[Graphical view]
SMARTiSM00248. ANK. 3 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
SSF63451. SSF63451. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
PS50164. GIY_YIG. 1 hit.
PS50954. LEM. 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: Q8NAG6-2) [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
MCSEARLARR LRDALREEEP WAVEELLRCG ADPNLVLEDG AAAVHLAAGA
60 70 80 90 100
RHPRGLRCLG ALLRQGGDPN ARSVEALTPL HVAAAWGCRR GLELLLSQGA
110 120 130 140 150
DPALRDQDGL RPLDLALQQG HLECARVLQD LDTRTRTRTR IGAETQEPEP
160 170 180 190 200
APGTPGLSGP TDETLDSIAL QKQPCRGDNR DIGLEADPGP PSLPVPLETV
210 220 230 240 250
DKHGSSASPP GHWDYSSDAS FVTAVEVSGA EDPASDTPPW AGSLPPTRQG
260 270 280 290 300
LLHVVHANQR VPRSQGTEAE LNARLQALTL TPPNAAGFQS SPSSMPLLDR
310 320 330 340 350
SPAHSPPRTP TPGASDCHCL WEHQTSIDSD MATLWLTEDE ASSTGGREPV
360 370 380 390 400
GPCRHLPVST VSDLELLKGL RALGENPHPI TPFTRQLYHQ QLEEAQIAPG
410 420 430 440 450
PEFSGHSLEL AAALRTGCIP DVQADEDALA QQFEQPDPAR RWREGVVKSS
460 470 480 490 500
FTYLLLDPRE TQDLPARAFS LTPAERLQTF IRAIFYVGKG TRARPYVHLW
510 520 530 540 550
EALGHHGRSR KQPHQACPKV RQILDIWASG CGVVSLHCFQ HVVAVEAYTR
560 570 580 590 600
EACIVEALGI QTLTNQKQGH CYGVVAGWPP ARRRRLGVHL LHRALLVFLA
610
EGERQLHPQD IQARG
Note: No experimental confirmation available.
Length:615
Mass (Da):66,890
Last modified:October 5, 2010 - v2
Checksum:i5889866143933668
GO
Isoform 2 (identifier: Q8NAG6-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-22: MCSEARLARRLRDALREEEPWA → MRCGRRSR
     374-399: Missing.

Show »
Length:575
Mass (Da):62,255
Checksum:iDDBB792FD87FA8EA
GO

Sequence cautioni

The sequence BAC04840.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti444 – 4441E → G in BAC03953 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti31 – 311A → T.1 Publication
Corresponds to variant rs8100241 [ dbSNP | Ensembl ].
VAR_063681
Natural varianti71 – 711A → V.2 Publications
Corresponds to variant rs1864116 [ dbSNP | Ensembl ].
VAR_063682
Natural varianti94 – 941L → Q.1 Publication
Corresponds to variant rs8108174 [ dbSNP | Ensembl ].
VAR_033507
Natural varianti160 – 1601P → S.
Corresponds to variant rs59119993 [ dbSNP | Ensembl ].
VAR_061015
Natural varianti184 – 1841L → W.1 Publication
Corresponds to variant rs2363956 [ dbSNP | Ensembl ].
VAR_033508
Natural varianti311 – 3111T → P.2 Publications
Corresponds to variant rs891017 [ dbSNP | Ensembl ].
VAR_033509
Natural varianti435 – 4351Q → R.2 Publications
Corresponds to variant rs11086065 [ dbSNP | Ensembl ].
VAR_033510
Natural varianti447 – 4471V → M.
Corresponds to variant rs34112069 [ dbSNP | Ensembl ].
VAR_033511

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2222MCSEA…EEPWA → MRCGRRSR in isoform 2. 1 PublicationVSP_039879Add
BLAST
Alternative sequencei374 – 39926Missing in isoform 2. 1 PublicationVSP_039880Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU184013 mRNA. Translation: ABW73565.1.
AK092706 mRNA. Translation: BAC03953.1.
AK096688 mRNA. Translation: BAC04840.1. Different initiation.
AC010463 Genomic DNA. No translation available.
RefSeqiNP_001265372.1. NM_001278443.1.
NP_001265374.1. NM_001278445.1.
NP_689576.5. NM_152363.5.
UniGeneiHs.721610.

Genome annotation databases

EnsembliENST00000394458; ENSP00000377971; ENSG00000160117.
GeneIDi126549.
KEGGihsa:126549.
UCSCiuc002nfz.2. human. [Q8NAG6-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU184013 mRNA. Translation: ABW73565.1.
AK092706 mRNA. Translation: BAC03953.1.
AK096688 mRNA. Translation: BAC04840.1. Different initiation.
AC010463 Genomic DNA. No translation available.
RefSeqiNP_001265372.1. NM_001278443.1.
NP_001265374.1. NM_001278445.1.
NP_689576.5. NM_152363.5.
UniGeneiHs.721610.

3D structure databases

ProteinModelPortaliQ8NAG6.
SMRiQ8NAG6. Positions 23-129.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126001. 2 interactions.
STRINGi9606.ENSP00000377971.

PTM databases

PhosphoSiteiQ8NAG6.

Polymorphism and mutation databases

DMDMi308153409.

Proteomic databases

PaxDbiQ8NAG6.
PRIDEiQ8NAG6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000394458; ENSP00000377971; ENSG00000160117.
GeneIDi126549.
KEGGihsa:126549.
UCSCiuc002nfz.2. human. [Q8NAG6-2]

Organism-specific databases

CTDi126549.
GeneCardsiGC19P017901.
HGNCiHGNC:26812. ANKLE1.
HPAiHPA026789.
neXtProtiNX_Q8NAG6.
PharmGKBiPA162376509.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG137615.
HOGENOMiHOG000015588.
HOVERGENiHBG079451.
InParanoidiQ8NAG6.
OMAiDAHLWEA.
OrthoDBiEOG7ZWD3N.
PhylomeDBiQ8NAG6.
TreeFamiTF319333.

Miscellaneous databases

GenomeRNAii126549.
NextBioi81850.
PROiQ8NAG6.

Gene expression databases

BgeeiQ8NAG6.
ExpressionAtlasiQ8NAG6. baseline and differential.
GenevisibleiQ8NAG6. HS.

Family and domain databases

Gene3Di1.10.720.40. 1 hit.
1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000305. GIY-YIG_SF.
IPR011015. LEM/LEM-like_dom.
IPR003887. LEM_dom.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
PF03020. LEM. 1 hit.
[Graphical view]
SMARTiSM00248. ANK. 3 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
SSF63451. SSF63451. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
PS50164. GIY_YIG. 1 hit.
PS50954. LEM. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "LEM3 is a novel LEM-domain containing protein."
    Brachner A., Foisner R., Gotzmann J.
    Submitted (OCT-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS THR-31; VAL-71; GLN-94; TRP-184; PRO-311 AND ARG-435.
  2. "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 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 253-615 (ISOFORM 1), VARIANTS VAL-71; PRO-311 AND ARG-435.
  3. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Entry informationi

Entry nameiANKL1_HUMAN
AccessioniPrimary (citable) accession number: Q8NAG6
Secondary accession number(s): A8VU82, Q8N8J8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: October 5, 2010
Last modified: June 24, 2015
This is version 87 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 19
    Human chromosome 19: 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

External Data

Dasty 3

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 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.