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Q8NAG6 (ANKL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified June 11, 2014. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ankyrin repeat and LEM domain-containing protein 1
Alternative name(s):
Ankyrin repeat domain-containing protein 41
LEM-domain containing protein 3
Gene names
Name:ANKLE1
Synonyms:ANKRD41, LEM3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length615 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 3 ANK repeats.

Contains 1 GIY-YIG domain.

Contains 1 LEM domain.

Sequence caution

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

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainANK repeat
Repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NAG6-2)

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.
Note: No experimental confirmation available.
Isoform 2 (identifier: Q8NAG6-1)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 615615Ankyrin repeat and LEM domain-containing protein 1
PRO_0000244370

Regions

Repeat39 – 7133ANK 1
Repeat75 – 10430ANK 2
Repeat108 – 13730ANK 3
Domain355 – 39945LEM
Domain448 – 566119GIY-YIG
Compositional bias582 – 5854Poly-Arg

Natural variations

Alternative sequence1 – 2222MCSEA…EEPWA → MRCGRRSR in isoform 2.
VSP_039879
Alternative sequence374 – 39926Missing in isoform 2.
VSP_039880
Natural variant311A → T. Ref.1
Corresponds to variant rs8100241 [ dbSNP | Ensembl ].
VAR_063681
Natural variant711A → V. Ref.1 Ref.2
Corresponds to variant rs1864116 [ dbSNP | Ensembl ].
VAR_063682
Natural variant941L → Q. Ref.1
Corresponds to variant rs8108174 [ dbSNP | Ensembl ].
VAR_033507
Natural variant1601P → S.
Corresponds to variant rs59119993 [ dbSNP | Ensembl ].
VAR_061015
Natural variant1841L → W. Ref.1
Corresponds to variant rs2363956 [ dbSNP | Ensembl ].
VAR_033508
Natural variant3111T → P. Ref.1 Ref.2
Corresponds to variant rs891017 [ dbSNP | Ensembl ].
VAR_033509
Natural variant4351Q → R. Ref.1 Ref.2
Corresponds to variant rs11086065 [ dbSNP | Ensembl ].
VAR_033510
Natural variant4471V → M.
Corresponds to variant rs34112069 [ dbSNP | Ensembl ].
VAR_033511

Experimental info

Sequence conflict4441E → G in BAC03953. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 5, 2010. Version 2.
Checksum: 5889866143933668

FASTA61566,890
        10         20         30         40         50         60 
MCSEARLARR LRDALREEEP WAVEELLRCG ADPNLVLEDG AAAVHLAAGA RHPRGLRCLG 

        70         80         90        100        110        120 
ALLRQGGDPN ARSVEALTPL HVAAAWGCRR GLELLLSQGA DPALRDQDGL RPLDLALQQG 

       130        140        150        160        170        180 
HLECARVLQD LDTRTRTRTR IGAETQEPEP APGTPGLSGP TDETLDSIAL QKQPCRGDNR 

       190        200        210        220        230        240 
DIGLEADPGP PSLPVPLETV DKHGSSASPP GHWDYSSDAS FVTAVEVSGA EDPASDTPPW 

       250        260        270        280        290        300 
AGSLPPTRQG LLHVVHANQR VPRSQGTEAE LNARLQALTL TPPNAAGFQS SPSSMPLLDR 

       310        320        330        340        350        360 
SPAHSPPRTP TPGASDCHCL WEHQTSIDSD MATLWLTEDE ASSTGGREPV GPCRHLPVST 

       370        380        390        400        410        420 
VSDLELLKGL RALGENPHPI TPFTRQLYHQ QLEEAQIAPG PEFSGHSLEL AAALRTGCIP 

       430        440        450        460        470        480 
DVQADEDALA QQFEQPDPAR RWREGVVKSS FTYLLLDPRE TQDLPARAFS LTPAERLQTF 

       490        500        510        520        530        540 
IRAIFYVGKG TRARPYVHLW EALGHHGRSR KQPHQACPKV RQILDIWASG CGVVSLHCFQ 

       550        560        570        580        590        600 
HVVAVEAYTR EACIVEALGI QTLTNQKQGH CYGVVAGWPP ARRRRLGVHL LHRALLVFLA 

       610 
EGERQLHPQD IQARG 

« Hide

Isoform 2 [UniParc].

Checksum: DDBB792FD87FA8EA
Show »

FASTA57562,255

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
EU184013 mRNA. Translation: ABW73565.1.
AK092706 mRNA. Translation: BAC03953.1.
AK096688 mRNA. Translation: BAC04840.1. Different initiation.
AC010463 Genomic DNA. No translation available.
RefSeqNP_001265372.1. NM_001278443.1.
NP_001265374.1. NM_001278445.1.
NP_689576.5. NM_152363.5.
UniGeneHs.721610.

3D structure databases

ProteinModelPortalQ8NAG6.
SMRQ8NAG6. Positions 23-129.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126001. 2 interactions.
STRING9606.ENSP00000384753.

PTM databases

PhosphoSiteQ8NAG6.

Polymorphism databases

DMDM308153409.

Proteomic databases

PaxDbQ8NAG6.
PRIDEQ8NAG6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000394458; ENSP00000377971; ENSG00000160117. [Q8NAG6-2]
GeneID126549.
KEGGhsa:126549.
UCSCuc002nfz.2. human. [Q8NAG6-2]

Organism-specific databases

CTD126549.
GeneCardsGC19P017470.
HGNCHGNC:26812. ANKLE1.
HPAHPA026789.
neXtProtNX_Q8NAG6.
PharmGKBPA162376509.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG137615.
HOGENOMHOG000015588.
HOVERGENHBG079451.
OMADAHLWEA.
OrthoDBEOG7ZWD3N.
PhylomeDBQ8NAG6.
TreeFamTF319333.

Gene expression databases

ArrayExpressQ8NAG6.
BgeeQ8NAG6.
GenevestigatorQ8NAG6.

Family and domain databases

Gene3D1.10.720.40. 1 hit.
1.25.40.20. 1 hit.
InterProIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR000305. GIY-YIG_SF.
IPR011015. LEM/LEM-like_dom.
IPR003887. LEM_dom.
[Graphical view]
PfamPF12796. Ank_2. 1 hit.
PF03020. LEM. 1 hit.
[Graphical view]
SMARTSM00248. ANK. 3 hits.
[Graphical view]
SUPFAMSSF48403. SSF48403. 1 hit.
SSF63451. SSF63451. 1 hit.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 2 hits.
PS50164. GIY_YIG. 1 hit.
PS50954. LEM. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi126549.
NextBio81850.
PROQ8NAG6.

Entry information

Entry nameANKL1_HUMAN
AccessionPrimary (citable) accession number: Q8NAG6
Secondary accession number(s): A8VU82, Q8N8J8
Entry history
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: October 5, 2010
Last modified: June 11, 2014
This is version 83 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM