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Protein

Ankyrin repeat domain-containing protein 18A

Gene

ANKRD18A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat domain-containing protein 18A
Gene namesi
Name:ANKRD18A
Synonyms:KIAA2015
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:23643. ANKRD18A.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134889624.

Polymorphism and mutation databases

BioMutaiANKRD18A.
DMDMi166898074.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 992992Ankyrin repeat domain-containing protein 18APRO_0000066912Add
BLAST

Proteomic databases

EPDiQ8IVF6.
MaxQBiQ8IVF6.
PaxDbiQ8IVF6.
PRIDEiQ8IVF6.

PTM databases

iPTMnetiQ8IVF6.
PhosphoSiteiQ8IVF6.

Expressioni

Gene expression databases

BgeeiQ8IVF6.
CleanExiHS_ANKRD18A.
ExpressionAtlasiQ8IVF6. baseline and differential.
GenevisibleiQ8IVF6. HS.

Organism-specific databases

HPAiHPA046346.
HPA049923.
HPA051288.

Interactioni

Protein-protein interaction databases

BioGridi128979. 3 interactions.
IntActiQ8IVF6. 1 interaction.
MINTiMINT-7899396.
STRINGi9606.ENSP00000382610.

Structurei

3D structure databases

ProteinModelPortaliQ8IVF6.
SMRiQ8IVF6. Positions 7-306.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati67 – 9630ANK 1Add
BLAST
Repeati100 – 12930ANK 2Add
BLAST
Repeati133 – 16230ANK 3Add
BLAST
Repeati166 – 19530ANK 4Add
BLAST
Repeati199 – 22830ANK 5Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili278 – 31033Sequence analysisAdd
BLAST
Coiled coili378 – 618241Sequence analysisAdd
BLAST
Coiled coili683 – 71331Sequence analysisAdd
BLAST
Coiled coili743 – 899157Sequence analysisAdd
BLAST

Sequence similaritiesi

Contains 5 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00560000076605.
HOGENOMiHOG000143452.
HOVERGENiHBG095812.
InParanoidiQ8IVF6.
OMAiLTEVLLC.
OrthoDBiEOG7N63KX.
PhylomeDBiQ8IVF6.
TreeFamiTF333496.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR021885. DUF3496.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
PF12001. DUF3496. 1 hit.
[Graphical view]
SMARTiSM00248. ANK. 6 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IVF6-1) [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
MRKLFSFGRR LGQALLSSMD QEYAGPGYDI RDWELRKIHR AAIKGDAAEV
60 70 80 90 100
ERCLTRRFRD LDARDRKDRT VLHLACAHGR VQVVTLLLHR RCQIDICDRL
110 120 130 140 150
NRTPLMKAVH SQEEACAIVL LECGANPNIE DIYGNTALHY AVYNKGTSLA
160 170 180 190 200
ERLLSHHANI EALNKEGNTP LLFAINSRRQ HMVEFLLKNQ ANIHAVDNFK
210 220 230 240 250
RTALILAVQH NLSSIVTLLL QQNIRISSQD MFGQTAEDYA LCSDLRSIRQ
260 270 280 290 300
QILEHKNKML KNHLRNDNQE TAAMKPANLK KRKERAKAEH NLKVASEEKQ
310 320 330 340 350
ERLQRSENKQ PQDSQSYGKK KDAMYGNFML KKDIAMLKEE LYAIKNDSLR
360 370 380 390 400
KEKKYIQEIK SITEINANFE KSVRLNEKMI TKTVARYSQQ LNDLKAENAR
410 420 430 440 450
LNSELEKEKH NKERLEAEVE SLHSSLATAI NEYNEIVERK DLELVLWRAD
460 470 480 490 500
DVSRHEKMGS NISQLTDKNE LLTEQVHKAR VKFNTLKGKL RETRDALREK
510 520 530 540 550
TLALGSVQLD LRQAQHRIKE MKQMHPNGEA KESQSIGKQN SLEERIRQQE
560 570 580 590 600
LENLLLERQL EDARKEGDNK EIVINIHRDC LENGKEDLLE ERNKELMKEY
610 620 630 640 650
NYLKEKLLQC EKEKAEREVI VREFQEELVD HLKTFSISES PLEGTSHCHI
660 670 680 690 700
NLNETWTSKK KLFQVEIQPE EKHEEFRKLF ELISLLNYTA DQIRKKNREL
710 720 730 740 750
EEEATGYKKC LEMTINMLNA FANEDFSCHG DLNTDQLKMD ILFKKLKQKF
760 770 780 790 800
NDLVAEKEAV SSECVNLAKD NEVLHQELLS MRNVQEKCEK LEKDKKMLEE
810 820 830 840 850
EVLNLKTHME KDMVELGKLQ EYKSELDERA VQEIEKLEEI HLQKQAEYEK
860 870 880 890 900
QLEQLNKDNT ASLKKKELTL KDVECKFSKM KTAYEEVTTE LEEFKEAFAG
910 920 930 940 950
AVKANNSMSK KLMKSDKKIA VISTKLFTEK QRMKYFLSTL PTRPEPELPC
960 970 980 990
VENLNSIELN RKYIPKTAIR IPTSNPQTSN NCKNFLTEVL LC
Length:992
Mass (Da):115,597
Last modified:February 5, 2008 - v3
Checksum:i26B05E166B7D6DD0
GO
Isoform 2 (identifier: Q8IVF6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-879: Missing.
     989-991: VLL → MELDRVEQII...QGPIAHPRHR

Note: No experimental confirmation available.
Show »
Length:205
Mass (Da):23,242
Checksum:i02C1568A8578518A
GO

Sequence cautioni

The sequence AAH56266.1 differs from that shown.Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAC23111.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti288 – 2881Missing in AAH56266 (PubMed:15489334).Curated
Sequence conflicti727 – 7271S → N in BAC23111 (Ref. 1) Curated
Sequence conflicti727 – 7271S → N in AAI52435 (PubMed:15489334).Curated
Sequence conflicti897 – 8971A → V in BAC23111 (Ref. 1) Curated
Sequence conflicti897 – 8971A → V in AAI52435 (PubMed:15489334).Curated
Sequence conflicti900 – 9001G → A in BAC23111 (Ref. 1) Curated
Sequence conflicti900 – 9001G → A in AAI52435 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti130 – 1301E → K.2 Publications
Corresponds to variant rs1832313 [ dbSNP | Ensembl ].
VAR_055507
Natural varianti277 – 2771A → E.
Corresponds to variant rs632200 [ dbSNP | Ensembl ].
VAR_055508
Natural varianti484 – 4841N → S.
Corresponds to variant rs2996347 [ dbSNP | Ensembl ].
VAR_055509
Natural varianti688 – 6881Y → C.
Corresponds to variant rs2799163 [ dbSNP | Ensembl ].
VAR_055510
Natural varianti838 – 8381E → D.
Corresponds to variant rs12341435 [ dbSNP | Ensembl ].
VAR_059118
Natural varianti942 – 9421T → I.
Corresponds to variant rs11999308 [ dbSNP | Ensembl ].
VAR_055511
Natural varianti945 – 9451E → D.
Corresponds to variant rs12341435 [ dbSNP | Ensembl ].
VAR_055512

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 879879Missing in isoform 2. 1 PublicationVSP_056912Add
BLAST
Alternative sequencei989 – 9913VLL → MELDRVEQIITGTKKSFAML STCSRLLSFVESTAPRKHRR ALPIMRSLVPNRRTTVASTE SRTNRPGGVRSPGLQLEGTS TLQWEQGPIAHPRHR in isoform 2. 1 PublicationVSP_056913

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB095935 mRNA. Translation: BAC23111.1. Different initiation.
AK093059 mRNA. Translation: BAC04038.1.
AL390726 Genomic DNA. No translation available.
AL591543 Genomic DNA. Translation: CAI17285.1.
BC056266 mRNA. Translation: AAH56266.1. Sequence problems.
BC152434 mRNA. Translation: AAI52435.1.
CCDSiCCDS55311.1. [Q8IVF6-1]
RefSeqiNP_671728.2. NM_147195.2. [Q8IVF6-1]
XP_011516141.1. XM_011517839.1. [Q8IVF6-1]
UniGeneiHs.644630.

Genome annotation databases

EnsembliENST00000399703; ENSP00000382610; ENSG00000180071. [Q8IVF6-1]
GeneIDi253650.
KEGGihsa:253650.
UCSCiuc004abg.5. human. [Q8IVF6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB095935 mRNA. Translation: BAC23111.1. Different initiation.
AK093059 mRNA. Translation: BAC04038.1.
AL390726 Genomic DNA. No translation available.
AL591543 Genomic DNA. Translation: CAI17285.1.
BC056266 mRNA. Translation: AAH56266.1. Sequence problems.
BC152434 mRNA. Translation: AAI52435.1.
CCDSiCCDS55311.1. [Q8IVF6-1]
RefSeqiNP_671728.2. NM_147195.2. [Q8IVF6-1]
XP_011516141.1. XM_011517839.1. [Q8IVF6-1]
UniGeneiHs.644630.

3D structure databases

ProteinModelPortaliQ8IVF6.
SMRiQ8IVF6. Positions 7-306.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128979. 3 interactions.
IntActiQ8IVF6. 1 interaction.
MINTiMINT-7899396.
STRINGi9606.ENSP00000382610.

PTM databases

iPTMnetiQ8IVF6.
PhosphoSiteiQ8IVF6.

Polymorphism and mutation databases

BioMutaiANKRD18A.
DMDMi166898074.

Proteomic databases

EPDiQ8IVF6.
MaxQBiQ8IVF6.
PaxDbiQ8IVF6.
PRIDEiQ8IVF6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000399703; ENSP00000382610; ENSG00000180071. [Q8IVF6-1]
GeneIDi253650.
KEGGihsa:253650.
UCSCiuc004abg.5. human. [Q8IVF6-1]

Organism-specific databases

CTDi253650.
GeneCardsiANKRD18A.
H-InvDBHIX0008052.
HIX0024305.
HIX0030293.
HIX0034825.
HIX0175387.
HGNCiHGNC:23643. ANKRD18A.
HPAiHPA046346.
HPA049923.
HPA051288.
neXtProtiNX_Q8IVF6.
PharmGKBiPA134889624.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00560000076605.
HOGENOMiHOG000143452.
HOVERGENiHBG095812.
InParanoidiQ8IVF6.
OMAiLTEVLLC.
OrthoDBiEOG7N63KX.
PhylomeDBiQ8IVF6.
TreeFamiTF333496.

Miscellaneous databases

GenomeRNAii253650.
PROiQ8IVF6.

Gene expression databases

BgeeiQ8IVF6.
CleanExiHS_ANKRD18A.
ExpressionAtlasiQ8IVF6. baseline and differential.
GenevisibleiQ8IVF6. HS.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR021885. DUF3496.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
PF12001. DUF3496. 1 hit.
[Graphical view]
SMARTiSM00248. ANK. 6 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 3 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  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] (ISOFORM 1), VARIANT LYS-130.
    Tissue: Brain.
  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).
    Tissue: Testis.
  3. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LYS-130.
    Tissue: Prostate.

Entry informationi

Entry nameiAN18A_HUMAN
AccessioniPrimary (citable) accession number: Q8IVF6
Secondary accession number(s): A7MD11
, A8MVU5, Q5SY86, Q7Z468, Q8NA88
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 2003
Last sequence update: February 5, 2008
Last modified: June 8, 2016
This is version 117 of the entry and version 3 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 9
    Human chromosome 9: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.