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Protein

Ankyrin repeat and death domain-containing protein 1A

Gene

ANKDD1A

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

Functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat and death domain-containing protein 1A
Gene namesi
Name:ANKDD1A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000166839.16
HGNCiHGNC:28002 ANKDD1A
neXtProtiNX_Q495B1

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000166839
PharmGKBiPA143485299

Polymorphism and mutation databases

BioMutaiANKDD1A
DMDMi288558803

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002878821 – 522Ankyrin repeat and death domain-containing protein 1AAdd BLAST522

Proteomic databases

PaxDbiQ495B1
PeptideAtlasiQ495B1
PRIDEiQ495B1
ProteomicsDBi61950
61951 [Q495B1-1]
61952 [Q495B1-2]
61953 [Q495B1-6]

PTM databases

iPTMnetiQ495B1
PhosphoSitePlusiQ495B1

Expressioni

Gene expression databases

BgeeiENSG00000166839
CleanExiHS_ANKDD1A
ExpressionAtlasiQ495B1 baseline and differential
GenevisibleiQ495B1 HS

Organism-specific databases

HPAiHPA040757

Interactioni

Protein-protein interaction databases

BioGridi131506, 2 interactors
IntActiQ495B1, 1 interactor
STRINGi9606.ENSP00000369579

Structurei

3D structure databases

ProteinModelPortaliQ495B1
SMRiQ495B1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati14 – 43ANK 1Add BLAST30
Repeati47 – 76ANK 2Add BLAST30
Repeati90 – 119ANK 3Add BLAST30
Repeati123 – 152ANK 4Add BLAST30
Repeati158 – 187ANK 5Add BLAST30
Repeati191 – 220ANK 6Add BLAST30
Repeati224 – 253ANK 7Add BLAST30
Repeati257 – 286ANK 8Add BLAST30
Repeati290 – 319ANK 9Add BLAST30
Repeati323 – 352ANK 10Add BLAST30
Repeati356 – 385ANK 11Add BLAST30
Domaini413 – 501DeathPROSITE-ProRule annotationAdd BLAST89

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG4177 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00920000148972
HOGENOMiHOG000273862
HOVERGENiHBG100885
InParanoidiQ495B1
OMAiQDHRQET
OrthoDBiEOG091G0IU8
PhylomeDBiQ495B1
TreeFamiTF333615

Family and domain databases

CDDicd00204 ANK, 4 hits
Gene3Di1.25.40.20, 3 hits
InterProiView protein in InterPro
IPR039194 AKD1A/AKD1B
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR011029 DEATH-like_dom_sf
IPR000488 Death_domain
PANTHERiPTHR24125 PTHR24125, 1 hit
PfamiView protein in Pfam
PF00023 Ank, 1 hit
PF12796 Ank_2, 2 hits
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 10 hits
SUPFAMiSSF47986 SSF47986, 1 hit
SSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 8 hits
PS50017 DEATH_DOMAIN, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 5 (identifier: Q495B1-5) [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
MQEELAWETD GLLPLERQLH EAARQNNVGR MQELIGRRVN TRARNHVGRV
60 70 80 90 100
ALHWAAGAGH EQAVRLLLEH EAAVDEEDAV GALTEARLCF GMNALLLSAW
110 120 130 140 150
FGHLRILQIL VNSGAKIHCE SKDGLTLLHC AAQKGHVPVL AFIMEDLEDV
160 170 180 190 200
ALDHVDKLGR TAFHRAAEHG QLDALDFLVG SGCDHNVKDK EGNTALHLAA
210 220 230 240 250
GRGHMAVLQR LVDIGLDLEE QNAEGLTALH SAAGGSHPDC VQLLLRAGST
260 270 280 290 300
VNALTQKNLS CLHYAALSGS EDVSRVLIHA GGCANVVDHQ GASPLHLAVR
310 320 330 340 350
HNFPALVRLL INSDSDVNAV DNRQQTPLHL AAEHAWQDIA DMLLIAGVDL
360 370 380 390 400
NLRDKQGKTA LAVAVRSNHV SLVDMIIKAD RFYRWEKDHP SDPSGKSLSF
410 420 430 440 450
KQDHRQETQQ LRSVLWRLAS RYLQPREWKK LAYSWEFTEA HVDAIEQQWT
460 470 480 490 500
GTRSYQEHGH RMLLIWLHGV ATAGENPSKA LFEGLVAIGR RDLAGWSTMA
510 520
RSQLTATSAS RVQMILVPQP PE
Length:522
Mass (Da):57,550
Last modified:February 9, 2010 - v2
Checksum:iB0A26B4EE684A8B5
GO
Isoform 2 (identifier: Q495B1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     355-386: Missing.

Show »
Length:490
Mass (Da):53,865
Checksum:iE2D045FB6FEDC233
GO
Isoform 3 (identifier: Q495B1-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     13-41: LPLERQLHEAARQNNVGRMQELIGRRVNT → WDECASPVCLVRPLTNPLDLDKLRGQDPL
     42-522: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:41
Mass (Da):4,668
Checksum:i0BB1F50CE27655CF
GO
Isoform 1 (identifier: Q495B1-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     495-522: GWSTMARSQLTATSASRVQMILVPQPPE → ENIRKKANAAPSAPRRCTAM

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:514
Mass (Da):56,692
Checksum:i8ABB76F55F8C6A6F
GO

Sequence cautioni

The sequence BAC05399 differs from that shown. Probable cloning artifact.Curated
The sequence BAC11532 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032358355K → E1 PublicationCorresponds to variant dbSNP:rs34988193Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03867613 – 41LPLER…RRVNT → WDECASPVCLVRPLTNPLDL DKLRGQDPL in isoform 3. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_03867742 – 522Missing in isoform 3. 1 PublicationAdd BLAST481
Alternative sequenceiVSP_038678355 – 386Missing in isoform 2. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_038675495 – 522GWSTM…PQPPE → ENIRKKANAAPSAPRRCTAM in isoform 1. 1 PublicationAdd BLAST28

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK075298 mRNA Translation: BAC11532.1 Sequence problems.
AK098736 mRNA Translation: BAC05399.1 Sequence problems.
AC069368 Genomic DNA No translation available.
BC101273 mRNA Translation: AAI01274.1
BC101274 mRNA Translation: AAI01275.1
BC101275 mRNA Translation: AAI01276.1
CCDSiCCDS10197.2 [Q495B1-5]
RefSeqiNP_874362.3, NM_182703.5 [Q495B1-5]
UniGeneiHs.207157

Genome annotation databases

EnsembliENST00000319580; ENSP00000325895; ENSG00000166839 [Q495B1-5]
GeneIDi348094
KEGGihsa:348094
UCSCiuc002anz.4 human [Q495B1-5]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAKD1A_HUMAN
AccessioniPrimary (citable) accession number: Q495B1
Secondary accession number(s): Q495B2
, Q495B3, Q8N7A0, Q8NBS5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: February 9, 2010
Last modified: July 18, 2018
This is version 115 of the entry and version 2 of the sequence. See 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 15
    Human chromosome 15: 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

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