Q8NAG6 (ANKL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	ANKLE1
Synonyms:	ANKRD41, LEM3

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	615 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities	Contains 3 ANK repeats. 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 diversity	Alternative splicing Polymorphism
Domain	ANK repeat Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	nuclear envelope Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 615	615	Ankyrin repeat and LEM domain-containing protein 1		PRO_0000244370
Regions
	Repeat	39 – 71	33	ANK 1
	Repeat	75 – 104	30	ANK 2
	Repeat	108 – 137	30	ANK 3
	Domain	355 – 399	45	LEM
	Compositional bias	582 – 585	4	Poly-Arg
Natural variations
	Alternative sequence	1 – 22	22	MCSEA…EEPWA → MRCGRRSR in isoform 2.		VSP_039879
	Alternative sequence	374 – 399	26	Missing in isoform 2.		VSP_039880
	Natural variant	31	1	A → T. Ref.1 Corresponds to variant rs8100241 [ dbSNP | Ensembl ].		VAR_063681
	Natural variant	71	1	A → V. Ref.1 Ref.2 Corresponds to variant rs1864116 [ dbSNP | Ensembl ].		VAR_063682
	Natural variant	94	1	L → Q. Ref.1 Corresponds to variant rs8108174 [ dbSNP | Ensembl ].		VAR_033507
	Natural variant	160	1	P → S. Corresponds to variant rs59119993 [ dbSNP | Ensembl ].		VAR_061015
	Natural variant	184	1	L → W. Ref.1 Corresponds to variant rs2363956 [ dbSNP | Ensembl ].		VAR_033508
	Natural variant	311	1	T → P. Ref.1 Ref.2 Corresponds to variant rs891017 [ dbSNP | Ensembl ].		VAR_033509
	Natural variant	435	1	Q → R. Ref.1 Ref.2 Corresponds to variant rs11086065 [ dbSNP | Ensembl ].		VAR_033510
	Natural variant	447	1	V → M. Corresponds to variant rs34112069 [ dbSNP | Ensembl ].		VAR_033511
Experimental info
	Sequence conflict	444	1	E → G in BAC03953. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 5, 2010. Version 2. Checksum: 5889866143933668	FASTA	615	66,890
	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
	Isoform 2 [UniParc]. Checksum: DDBB792FD87FA8EA	FASTA	575	62,255
	10 20 30 40 50 60 MRCGRRSRVE ELLRCGADPN LVLEDGAAAV HLAAGARHPR GLRCLGALLR QGGDPNARSV 70 80 90 100 110 120 EALTPLHVAA AWGCRRGLEL LLSQGADPAL RDQDGLRPLD LALQQGHLEC ARVLQDLDTR 130 140 150 160 170 180 TRTRTRIGAE TQEPEPAPGT PGLSGPTDET LDSIALQKQP CRGDNRDIGL EADPGPPSLP 190 200 210 220 230 240 VPLETVDKHG SSASPPGHWD YSSDASFVTA VEVSGAEDPA SDTPPWAGSL PPTRQGLLHV 250 260 270 280 290 300 VHANQRVPRS QGTEAELNAR LQALTLTPPN AAGFQSSPSS MPLLDRSPAH SPPRTPTPGA 310 320 330 340 350 360 SDCHCLWEHQ TSIDSDMATL WLTEDEASST GGREPVGPCR HLPVSTVSDL ELLKGLRALG 370 380 390 400 410 420 PEFSGHSLEL AAALRTGCIP DVQADEDALA QQFEQPDPAR RWREGVVKSS FTYLLLDPRE 430 440 450 460 470 480 TQDLPARAFS LTPAERLQTF IRAIFYVGKG TRARPYVHLW EALGHHGRSR KQPHQACPKV 490 500 510 520 530 540 RQILDIWASG CGVVSLHCFQ HVVAVEAYTR EACIVEALGI QTLTNQKQGH CYGVVAGWPP 550 560 570 ARRRRLGVHL LHRALLVFLA EGERQLHPQD IQARG

References

	« Hide 'large scale' referencesShow '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. , 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: 14702039] [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: 15057824] [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.
IPI	IPI00892517. IPI00892658.
RefSeq	NP_689576.4. NM_152363.4.
UniGene	Hs.721610.
3D structure databases
ProteinModelPortal	Q8NAG6.
SMR	Q8NAG6. Positions 9-129, 356-398.
ModBase	Search...
Protein-protein interaction databases
STRING	Q8NAG6.
PTM databases
PhosphoSite	Q8NAG6.
Polymorphism databases
DMDM	308153409.
Proteomic databases
PRIDE	Q8NAG6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000291449; ENSP00000291449; ENSG00000160117. ENST00000404085; ENSP00000384008; ENSG00000160117. ENST00000404261; ENSP00000384753; ENSG00000160117.
GeneID	126549.
KEGG	hsa:126549.
UCSC	uc002nfy.2. human.
Organism-specific databases
CTD	126549.
GeneCards	GC19P017394.
HGNC	HGNC:26812. ANKLE1.
HPA	HPA026789.
neXtProt	NX_Q8NAG6.
PharmGKB	PA162376509.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00510000049316.
HOVERGEN	HBG079451.
OMA	DALAQQF.
PhylomeDB	Q8NAG6.
Gene expression databases
ArrayExpress	Q8NAG6.
Bgee	Q8NAG6.
Genevestigator	Q8NAG6.
GermOnline	ENSG00000160117. Homo sapiens.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR003887. LEM. IPR011015. LEM-like_dom. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit.
Pfam	PF12796. Ank_2. 1 hit. PF03020. LEM. 1 hit. [Graphical view]
SMART	SM00248. ANK. 3 hits. [Graphical view]
SUPFAM	SSF48403. ANK. 1 hit. SSF63451. LEM_like. 1 hit.
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 2 hits. PS50954. LEM. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	81850.

Entry information

Entry name

ANKL1_HUMAN

Accession

Primary (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:	January 25, 2012
This is version 62 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.