Reviewed, UniProtKB/Swiss-Prot Q8IVF6 (AN18A_HUMAN)

Names and origin

Protein names

Recommended name:
    Ankyrin repeat domain-containing protein 18A

Gene names

Name:	ANKRD18A
Synonyms:	KIAA2015

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

General annotation (Comments)

Sequence similarities	Contains 5 ANK repeats.
Sequence caution	The sequence AAH56266.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Domain	ANK repeat Coiled coil Repeat
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 992	992	Ankyrin repeat domain-containing protein 18A		PRO_0000066912
Regions
	Repeat	67 – 96	30	ANK 1
	Repeat	100 – 129	30	ANK 2
	Repeat	133 – 162	30	ANK 3
	Repeat	166 – 195	30	ANK 4
	Repeat	199 – 228	30	ANK 5
	Coiled coil	278 – 310	33	Potential
	Coiled coil	378 – 618	241	Potential
	Coiled coil	683 – 713	31	Potential
	Coiled coil	743 – 899	157	Potential
Amino acid modifications
	Modified residue	869	1	Phosphothreonine Ref.4
Natural variations
	Natural variant	130	1	E → K: dbSNP rs1832313. Ref.1 Ref.3		VAR_055507
	Natural variant	277	1	A → E: dbSNP rs632200.		VAR_055508
	Natural variant	484	1	N → S: dbSNP rs2996347.		VAR_055509
	Natural variant	688	1	Y → C: dbSNP rs2799163.		VAR_055510
	Natural variant	838	1	E → D: dbSNP rs12341435.		VAR_059118
	Natural variant	942	1	T → I: dbSNP rs11999308.		VAR_055511
	Natural variant	945	1	E → D: dbSNP rs12341435.		VAR_055512
Experimental info
	Sequence conflict	288	1	Missing in AAH56266. Ref.3
	Sequence conflict	727	1	S → N in BAC23111. Ref.1
	Sequence conflict	727	1	S → N in AAI52435. Ref.3
	Sequence conflict	897	1	A → V in BAC23111. Ref.1
	Sequence conflict	897	1	A → V in AAI52435. Ref.3
	Sequence conflict	900	1	G → A in BAC23111. Ref.1
	Sequence conflict	900	1	G → A in AAI52435. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q8IVF6-1 [UniParc]. Last modified February 5, 2008. Version 3. Checksum: 26B05E166B7D6DD0	FASTA	992	115,597
	10 20 30 40 50 60 MRKLFSFGRR LGQALLSSMD QEYAGPGYDI RDWELRKIHR AAIKGDAAEV ERCLTRRFRD 70 80 90 100 110 120 LDARDRKDRT VLHLACAHGR VQVVTLLLHR RCQIDICDRL NRTPLMKAVH SQEEACAIVL 130 140 150 160 170 180 LECGANPNIE DIYGNTALHY AVYNKGTSLA ERLLSHHANI EALNKEGNTP LLFAINSRRQ 190 200 210 220 230 240 HMVEFLLKNQ ANIHAVDNFK RTALILAVQH NLSSIVTLLL QQNIRISSQD MFGQTAEDYA 250 260 270 280 290 300 LCSDLRSIRQ QILEHKNKML KNHLRNDNQE TAAMKPANLK KRKERAKAEH NLKVASEEKQ 310 320 330 340 350 360 ERLQRSENKQ PQDSQSYGKK KDAMYGNFML KKDIAMLKEE LYAIKNDSLR KEKKYIQEIK 370 380 390 400 410 420 SITEINANFE KSVRLNEKMI TKTVARYSQQ LNDLKAENAR LNSELEKEKH NKERLEAEVE 430 440 450 460 470 480 SLHSSLATAI NEYNEIVERK DLELVLWRAD DVSRHEKMGS NISQLTDKNE LLTEQVHKAR 490 500 510 520 530 540 VKFNTLKGKL RETRDALREK TLALGSVQLD LRQAQHRIKE MKQMHPNGEA KESQSIGKQN 550 560 570 580 590 600 SLEERIRQQE LENLLLERQL EDARKEGDNK EIVINIHRDC LENGKEDLLE ERNKELMKEY 610 620 630 640 650 660 NYLKEKLLQC EKEKAEREVI VREFQEELVD HLKTFSISES PLEGTSHCHI NLNETWTSKK 670 680 690 700 710 720 KLFQVEIQPE EKHEEFRKLF ELISLLNYTA DQIRKKNREL EEEATGYKKC LEMTINMLNA 730 740 750 760 770 780 FANEDFSCHG DLNTDQLKMD ILFKKLKQKF NDLVAEKEAV SSECVNLAKD NEVLHQELLS 790 800 810 820 830 840 MRNVQEKCEK LEKDKKMLEE EVLNLKTHME KDMVELGKLQ EYKSELDERA VQEIEKLEEI 850 860 870 880 890 900 HLQKQAEYEK QLEQLNKDNT ASLKKKELTL KDVECKFSKM KTAYEEVTTE LEEFKEAFAG 910 920 930 940 950 960 AVKANNSMSK KLMKSDKKIA VISTKLFTEK QRMKYFLSTL PTRPEPELPC VENLNSIELN 970 980 990 RKYIPKTAIR IPTSNPQTSN NCKNFLTEVL LC

References

[1]	"The nucleotide sequence of a long cDNA clone isolated from human." Nagase T., Kikuno R., Ohara O. Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LYS-130. Tissue: Brain.
[2]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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], VARIANT LYS-130. Tissue: Prostate.
[4]	"Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed: 18088087] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-869, MASS SPECTROMETRY. Tissue: Platelet.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB095935 mRNA. Translation: BAC23111.1. Different initiation. AL591543 Genomic DNA. Translation: CAI17285.1. BC056266 mRNA. Translation: AAH56266.1. Sequence problems. BC152434 mRNA. Translation: AAI52435.1.
IPI	IPI00217005.
UniGene	Hs.644630
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q8IVF6.
Proteomic databases
PRIDE	Q8IVF6.
Genome annotation databases
Ensembl	ENST00000399703; ENSP00000382610; ENSG00000180071; Homo sapiens. [Genome view]
UCSC	uc004abg.2. human.
Organism-specific databases
GeneCards	GC09M038532.
HGNC	HGNC:23643. ANKRD18A.
PharmGKB	PA134889624.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q8IVF6.
HOVERGEN	Q8IVF6.
OMA	QNIRISS
OrthoDB	EOG91G5RJ
Gene expression databases
ArrayExpress	Q8IVF6.
Bgee	Q8IVF6.
CleanEx	HS_ANKRD18A.
Genevestigator	Q8IVF6.
GermOnline	ENSG00000180071. Homo sapiens.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit.
Pfam	PF00023. Ank. 6 hits. [Graphical view]
SMART	SM00248. ANK. 6 hits. [Graphical view]
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 3 hits. [Graphical view]
ProtoNet	Search...

Entry information

Entry name

AN18A_HUMAN

Accession

Primary (citable) accession number: Q8IVF6
Secondary accession number(s): A7MD11 , A8MVU5, Q5SY86, Q7Z468

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 15, 2003
Last sequence update:	February 5, 2008
Last modified:	November 24, 2009
This is version 57 of the entry and version 3 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.