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Q8NAG6

- ANKL1_HUMAN

UniProt

Q8NAG6 - ANKL1_HUMAN

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Protein

Ankyrin repeat and LEM domain-containing protein 1

Gene

ANKLE1

Organism
Homo sapiens (Human)
Status
Reviewed - 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: Chromosome 19

Organism-specific databases

HGNCiHGNC:26812. ANKLE1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162376509.

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.
GenevestigatoriQ8NAG6.

Organism-specific databases

HPAiHPA026789.

Interactioni

Protein-protein interaction databases

BioGridi126001. 2 interactions.
STRINGi9606.ENSP00000384753.

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. Align

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.

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:
EMBL
GenBank
DDBJ
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]

Polymorphism databases

DMDMi308153409.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
RefSeqi NP_001265372.1. NM_001278443.1.
NP_001265374.1. NM_001278445.1.
NP_689576.5. NM_152363.5.
UniGenei Hs.721610.

3D structure databases

ProteinModelPortali Q8NAG6.
SMRi Q8NAG6. Positions 23-129.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126001. 2 interactions.
STRINGi 9606.ENSP00000384753.

PTM databases

PhosphoSitei Q8NAG6.

Polymorphism databases

DMDMi 308153409.

Proteomic databases

PaxDbi Q8NAG6.
PRIDEi Q8NAG6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000394458 ; ENSP00000377971 ; ENSG00000160117 .
GeneIDi 126549.
KEGGi hsa:126549.
UCSCi uc002nfz.2. human. [Q8NAG6-2 ]

Organism-specific databases

CTDi 126549.
GeneCardsi GC19P017901.
HGNCi HGNC:26812. ANKLE1.
HPAi HPA026789.
neXtProti NX_Q8NAG6.
PharmGKBi PA162376509.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG137615.
HOGENOMi HOG000015588.
HOVERGENi HBG079451.
InParanoidi Q8NAG6.
OMAi DAHLWEA.
OrthoDBi EOG7ZWD3N.
PhylomeDBi Q8NAG6.
TreeFami TF319333.

Miscellaneous databases

GenomeRNAii 126549.
NextBioi 81850.
PROi Q8NAG6.

Gene expression databases

Bgeei Q8NAG6.
ExpressionAtlasi Q8NAG6. baseline and differential.
Genevestigatori Q8NAG6.

Family and domain databases

Gene3Di 1.10.720.40. 1 hit.
1.25.40.20. 1 hit.
InterProi IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000305. GIY-YIG_SF.
IPR011015. LEM/LEM-like_dom.
IPR003887. LEM_dom.
[Graphical view ]
Pfami PF12796. Ank_2. 1 hit.
PF03020. LEM. 1 hit.
[Graphical view ]
SMARTi SM00248. ANK. 3 hits.
[Graphical view ]
SUPFAMi SSF48403. SSF48403. 1 hit.
SSF63451. SSF63451. 1 hit.
PROSITEi PS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
PS50164. GIY_YIG. 1 hit.
PS50954. LEM. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: October 29, 2014
This is version 85 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