Reviewed, UniProtKB/Swiss-Prot Q86XL3 (ANKL2_HUMAN)

Names and origin

Protein names

Recommended name:
    Ankyrin repeat and LEM domain-containing protein 2

Gene names

Name:	ANKLE2
Synonyms:	KIAA0692

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	938 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Subcellular location	Membrane; Single-pass membrane protein Potential.
Sequence similarities	Contains 1 ANK repeat. Contains 1 LEM domain.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	ANK repeat Transmembrane
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell 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: Q86XL3-1)

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.

Isoform 2 (identifier: Q86XL3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     631-648: GSNSISVRAFLDEDDMSL → VEMRFHRIDQAGLELLTS
     649-938: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 938	938	Ankyrin repeat and LEM domain-containing protein 2		PRO_0000280242
Regions
	Transmembrane	13 – 32	20	Potential
	Domain	69 – 113	45	LEM
	Repeat	411 – 440	30	ANK
Amino acid modifications
	Modified residue	259	1	Phosphoserine Ref.5 Ref.7
	Modified residue	268	1	Phosphoserine Ref.7
	Modified residue	487	1	Phosphoserine Ref.7
	Modified residue	488	1	Phosphoserine Ref.7
	Modified residue	496	1	Phosphoserine Ref.7
	Modified residue	512	1	Phosphoserine Ref.7
	Modified residue	528	1	Phosphoserine Ref.5 Ref.7
	Modified residue	662	1	Phosphoserine Ref.7 Ref.4
	Modified residue	896	1	Phosphoserine Ref.7 Ref.6
	Modified residue	914	1	Phosphoserine Ref.7
	Modified residue	919	1	Phosphoserine Ref.7
Natural variations
	Alternative sequence	631 – 648	18	GSNSI…DDMSL → VEMRFHRIDQAGLELLTS in isoform 2.		VSP_023574
	Alternative sequence	649 – 938	290	Missing in isoform 2.		VSP_023575
	Natural variant	122	1	H → Y: dbSNP rs1132375.		VAR_031097
	Natural variant	148	1	Q → E: dbSNP rs7968520.		VAR_031098
	Natural variant	720	1	R → H: dbSNP rs10781634.		VAR_031099
Experimental info
	Sequence conflict	266	1	P → Q in AAH43157. Ref.2
	Sequence conflict	481	1	L → V in AAH43157. Ref.2
	Sequence conflict	647	1	S → N in AAH43157. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 24, 2009. Version 4. Checksum: ED2F25F05E8106F2	FASTA	938	104,114
	10 20 30 40 50 60 MLWPRLAAAE WAALAWELLG ASVLLIAVRW LVRRLGPRPG GLGRSGTPVP PPSAAAAPAS 70 80 90 100 110 120 GEMTMDALLA RLKLLNPDDL REEIVKAGLK CGPITSTTRF IFEKKLAQAL LEQGGRLSSF 130 140 150 160 170 180 YHHEAGVTAL SQDPQRILKP AEGNPTDQAG FSEDRDFGYS VGLNPPEEEA VTSKTCSVPP 190 200 210 220 230 240 SDTDTYRAGA TASKEPPLYY GVCPVYEDVP ARNERIYVYE NKKEALQAVK MIKGSRFKAF 250 260 270 280 290 300 STREDAEKFA RGICDYFPSP SKTSLPLSPV KTAPLFSNDR LKDGLCLSES ETVNKERANS 310 320 330 340 350 360 YKNPRTQDLT AKLRKAVEKG EEDTFSDLIW SNPRYLIGSG DNPTIVQEGC RYNVMHVAAK 370 380 390 400 410 420 ENQASICQLT LDVLENPDFM RLMYPDDDEA MLQKRIRYVV DLYLNTPDKM GYDTPLHFAC 430 440 450 460 470 480 KFGNADVVNV LSSHHLIVKN SRNKYDKTPE DVICERSKNK SVELKERIRE YLKGHYYVPL 490 500 510 520 530 540 LRAEETSSPV IGELWSPDQT AEASHVSRYG GSPRDPVLTL RAFAGPLSPA KAEDFRKLWK 550 560 570 580 590 600 TPPREKAGFL HHVKKSDPER GFERVGRELA HELGYPWVEY WEFLGCFVDL SSQEGLQRLE 610 620 630 640 650 660 EYLTQQEIGK KAQQETGERE ASCRDKATTS GSNSISVRAF LDEDDMSLEE IKNRQNAARN 670 680 690 700 710 720 NSPPTVGAFG HTRCSAFPLE QEADLIEAAE PGGPHSSRNG LCHPLNHSRT LAGKRPKAPR 730 740 750 760 770 780 GEEAHLPPVS DLTVEFDKLN LQNIGRSVSK TPDESTKTKD QILTSRINAV ERDLLEPSPA 790 800 810 820 830 840 DQLGNGHRRT ESEMSARIAK MSLSPSSPRH EDQLEVTREP ARRLFLFGEE PSKLDQDVLA 850 860 870 880 890 900 ALECADVDPH QFPAVHRWKS AVLCYSPSDR QSWPSPAVKG RFKSQLPDLS GPHSYSPGRN 910 920 930 SVAGSNPAKP GLGSPGRYSP VHGSQLRRMA RLAELAAL
	Isoform 2. Checksum: A98712EBEE04E982	FASTA	648	72,641
	10 20 30 40 50 60 MLWPRLAAAE WAALAWELLG ASVLLIAVRW LVRRLGPRPG GLGRSGTPVP PPSAAAAPAS 70 80 90 100 110 120 GEMTMDALLA RLKLLNPDDL REEIVKAGLK CGPITSTTRF IFEKKLAQAL LEQGGRLSSF 130 140 150 160 170 180 YHHEAGVTAL SQDPQRILKP AEGNPTDQAG FSEDRDFGYS VGLNPPEEEA VTSKTCSVPP 190 200 210 220 230 240 SDTDTYRAGA TASKEPPLYY GVCPVYEDVP ARNERIYVYE NKKEALQAVK MIKGSRFKAF 250 260 270 280 290 300 STREDAEKFA RGICDYFPSP SKTSLPLSPV KTAPLFSNDR LKDGLCLSES ETVNKERANS 310 320 330 340 350 360 YKNPRTQDLT AKLRKAVEKG EEDTFSDLIW SNPRYLIGSG DNPTIVQEGC RYNVMHVAAK 370 380 390 400 410 420 ENQASICQLT LDVLENPDFM RLMYPDDDEA MLQKRIRYVV DLYLNTPDKM GYDTPLHFAC 430 440 450 460 470 480 KFGNADVVNV LSSHHLIVKN SRNKYDKTPE DVICERSKNK SVELKERIRE YLKGHYYVPL 490 500 510 520 530 540 LRAEETSSPV IGELWSPDQT AEASHVSRYG GSPRDPVLTL RAFAGPLSPA KAEDFRKLWK 550 560 570 580 590 600 TPPREKAGFL HHVKKSDPER GFERVGRELA HELGYPWVEY WEFLGCFVDL SSQEGLQRLE 610 620 630 640 EYLTQQEIGK KAQQETGERE ASCRDKATTS VEMRFHRIDQ AGLELLTS

References

[1]	"The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A. Nature 440:346-351(2006) [PubMed: 16541075] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 208-938 (ISOFORM 2), VARIANTS TYR-122 AND HIS-720. Tissue: Brain and Skin.
[3]	"Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:169-176(1998) [PubMed: 9734811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 156-938 (ISOFORM 1), VARIANT HIS-720. Tissue: Brain.
[4]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-662, MASS SPECTROMETRY. Tissue: Epithelium.
[5]	"A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-259 AND SER-528, MASS SPECTROMETRY. Tissue: Epithelium.
[6]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-896, MASS SPECTROMETRY.
[7]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-259; SER-268; SER-487; SER-488; SER-496; SER-512; SER-528; SER-662; SER-896; SER-914 AND SER-919, MASS SPECTROMETRY.
[8]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AC135586 Genomic DNA. No translation available. AC136467 Genomic DNA. No translation available. BC001530 mRNA. Translation: AAH01530.2. BC025347 mRNA. Translation: AAH25347.1. BC043157 mRNA. Translation: AAH43157.2. BC062373 mRNA. Translation: AAH62373.1. BC082962 mRNA. Translation: AAH82962.1. AB014592 mRNA. Translation: BAA31667.1.
IPI	IPI00329245. IPI00829741.
PIR	T00354.
RefSeq	NP_055929.1.
UniGene	Hs.654628
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q86XL3. 4 interactions.
PTM databases
PhosphoSite	Q86XL3.
Genome annotation databases
Ensembl	ENST00000357997; ENSP00000350686; ENSG00000176915; Homo sapiens. [Genome view]
GeneID	23141.
KEGG	hsa:23141.
UCSC	uc001ukx.2. human. uc001uky.2. human.
Organism-specific databases
CTD	23141.
GeneCards	GC12M131812.
HGNC	HGNC:29101. ANKLE2.
HPA	HPA003602.
PharmGKB	PA128394604.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q86XL3.
Gene expression databases
ArrayExpress	Q86XL3.
Bgee	Q86XL3.
CleanEx	HS_ANKLE2.
Genevestigator	Q86XL3.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR003887. LEM. IPR011015. LEM-like_fold. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit. G3DSA:1.10.720.40. LEM. 1 hit.
Pfam	PF03020. LEM. 1 hit. [Graphical view]
SMART	SM00248. ANK. 2 hits. [Graphical view]
PROSITE	PS50297. ANK_REP_REGION. False negative. PS50088. ANK_REPEAT. False negative. PS50954. LEM. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	44418.

Entry information

Entry name

ANKL2_HUMAN

Accession

Primary (citable) accession number: Q86XL3
Secondary accession number(s): O75176 , Q6P6A5, Q8TAZ9, Q96DH4

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 20, 2007
Last sequence update:	November 24, 2009
Last modified:	November 24, 2009
This is version 56 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.