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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

DisGeNETi253650.
OpenTargetsiENSG00000180071.
PharmGKBiPA134889624.

Polymorphism and mutation databases

BioMutaiANKRD18A.
DMDMi166898074.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000669121 – 992Ankyrin repeat domain-containing protein 18AAdd BLAST992

Proteomic databases

EPDiQ8IVF6.
MaxQBiQ8IVF6.
PaxDbiQ8IVF6.
PRIDEiQ8IVF6.

PTM databases

iPTMnetiQ8IVF6.
PhosphoSitePlusiQ8IVF6.

Expressioni

Gene expression databases

BgeeiENSG00000180071.
CleanExiHS_ANKRD18A.
ExpressionAtlasiQ8IVF6. baseline and differential.
GenevisibleiQ8IVF6. HS.

Organism-specific databases

HPAiHPA046346.
HPA049923.
HPA051288.

Interactioni

Protein-protein interaction databases

BioGridi128979. 3 interactors.
IntActiQ8IVF6. 1 interactor.
MINTiMINT-7899396.
STRINGi9606.ENSP00000382610.

Structurei

3D structure databases

ProteinModelPortaliQ8IVF6.
SMRiQ8IVF6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati67 – 96ANK 1Add BLAST30
Repeati100 – 129ANK 2Add BLAST30
Repeati133 – 162ANK 3Add BLAST30
Repeati166 – 195ANK 4Add BLAST30
Repeati199 – 228ANK 5Add BLAST30

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili278 – 310Sequence analysisAdd BLAST33
Coiled coili378 – 618Sequence analysisAdd BLAST241
Coiled coili683 – 713Sequence analysisAdd BLAST31
Coiled coili743 – 899Sequence analysisAdd BLAST157

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.
OrthoDBiEOG091G077A.
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 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAC23111 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti288Missing in AAH56266 (PubMed:15489334).Curated1
Sequence conflicti727S → N in BAC23111 (Ref. 1) Curated1
Sequence conflicti727S → N in AAI52435 (PubMed:15489334).Curated1
Sequence conflicti897A → V in BAC23111 (Ref. 1) Curated1
Sequence conflicti897A → V in AAI52435 (PubMed:15489334).Curated1
Sequence conflicti900G → A in BAC23111 (Ref. 1) Curated1
Sequence conflicti900G → A in AAI52435 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055507130E → K.2 PublicationsCorresponds to variant rs1832313dbSNPEnsembl.1
Natural variantiVAR_055508277A → E.Corresponds to variant rs632200dbSNPEnsembl.1
Natural variantiVAR_055509484N → S.Corresponds to variant rs2996347dbSNPEnsembl.1
Natural variantiVAR_055510688Y → C.Corresponds to variant rs2799163dbSNPEnsembl.1
Natural variantiVAR_059118838E → D.Corresponds to variant rs12341435dbSNPEnsembl.1
Natural variantiVAR_055511942T → I.Corresponds to variant rs11999308dbSNPEnsembl.1
Natural variantiVAR_055512945E → D.Corresponds to variant rs12341435dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0569121 – 879Missing in isoform 2. 1 PublicationAdd BLAST879
Alternative sequenceiVSP_056913989 – 991VLL → MELDRVEQIITGTKKSFAML STCSRLLSFVESTAPRKHRR ALPIMRSLVPNRRTTVASTE SRTNRPGGVRSPGLQLEGTS TLQWEQGPIAHPRHR in isoform 2. 1 Publication3

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_147195.3. [Q8IVF6-1]
XP_011516141.1. XM_011517839.2. [Q8IVF6-1]
UniGeneiHs.644630.
Hs.724217.

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_147195.3. [Q8IVF6-1]
XP_011516141.1. XM_011517839.2. [Q8IVF6-1]
UniGeneiHs.644630.
Hs.724217.

3D structure databases

ProteinModelPortaliQ8IVF6.
SMRiQ8IVF6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128979. 3 interactors.
IntActiQ8IVF6. 1 interactor.
MINTiMINT-7899396.
STRINGi9606.ENSP00000382610.

PTM databases

iPTMnetiQ8IVF6.
PhosphoSitePlusiQ8IVF6.

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.
DisGeNETi253650.
GeneCardsiANKRD18A.
H-InvDBHIX0008052.
HIX0024305.
HIX0030293.
HIX0034825.
HIX0175387.
HGNCiHGNC:23643. ANKRD18A.
HPAiHPA046346.
HPA049923.
HPA051288.
neXtProtiNX_Q8IVF6.
OpenTargetsiENSG00000180071.
PharmGKBiPA134889624.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00560000076605.
HOGENOMiHOG000143452.
HOVERGENiHBG095812.
InParanoidiQ8IVF6.
OMAiLTEVLLC.
OrthoDBiEOG091G077A.
PhylomeDBiQ8IVF6.
TreeFamiTF333496.

Miscellaneous databases

GenomeRNAii253650.
PROiQ8IVF6.

Gene expression databases

BgeeiENSG00000180071.
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...

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: November 30, 2016
This is version 121 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.