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Protein

Ankyrin repeat and death domain-containing protein 1A

Gene

ANKDD1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

Complete GO annotation...

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

HGNCiHGNC:28002. ANKDD1A.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485299.

Polymorphism and mutation databases

BioMutaiANKDD1A.
DMDMi288558803.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 522522Ankyrin repeat and death domain-containing protein 1APRO_0000287882Add
BLAST

Proteomic databases

PaxDbiQ495B1.
PeptideAtlasiQ495B1.
PRIDEiQ495B1.

PTM databases

iPTMnetiQ495B1.
PhosphoSiteiQ495B1.

Expressioni

Gene expression databases

BgeeiQ495B1.
CleanExiHS_ANKDD1A.
ExpressionAtlasiQ495B1. baseline and differential.
GenevisibleiQ495B1. HS.

Organism-specific databases

HPAiHPA040757.

Interactioni

Protein-protein interaction databases

BioGridi131506. 2 interactions.
IntActiQ495B1. 1 interaction.
STRINGi9606.ENSP00000369579.

Structurei

3D structure databases

ProteinModelPortaliQ495B1.
SMRiQ495B1. Positions 15-418.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati14 – 4330ANK 1Add
BLAST
Repeati47 – 7630ANK 2Add
BLAST
Repeati90 – 11930ANK 3Add
BLAST
Repeati123 – 15230ANK 4Add
BLAST
Repeati158 – 18730ANK 5Add
BLAST
Repeati191 – 22030ANK 6Add
BLAST
Repeati224 – 25330ANK 7Add
BLAST
Repeati257 – 28630ANK 8Add
BLAST
Repeati290 – 31930ANK 9Add
BLAST
Repeati323 – 35230ANK 10Add
BLAST
Repeati356 – 38530ANK 11Add
BLAST
Domaini413 – 50189DeathPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 11 ANK repeats.PROSITE-ProRule annotation
Contains 1 death domain.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG4177. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00790000122981.
HOGENOMiHOG000273862.
HOVERGENiHBG100885.
InParanoidiQ495B1.
OMAiWRLASRY.
OrthoDBiEOG7H1JK9.
PhylomeDBiQ495B1.
TreeFamiTF333615.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR011029. DEATH-like_dom.
IPR000488. Death_domain.
[Graphical view]
PfamiPF00023. Ank. 1 hit.
PF12796. Ank_2. 2 hits.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 10 hits.
[Graphical view]
SUPFAMiSSF47986. SSF47986. 1 hit.
SSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 8 hits.
PS50017. DEATH_DOMAIN. 1 hit.
[Graphical view]

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 BAC05399.1 differs from that shown.Probable cloning artifact.Curated
The sequence BAC11532.1 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti355 – 3551K → E.1 Publication
Corresponds to variant rs34988193 [ dbSNP | Ensembl ].
VAR_032358

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei13 – 4129LPLER…RRVNT → WDECASPVCLVRPLTNPLDL DKLRGQDPL in isoform 3. 1 PublicationVSP_038676Add
BLAST
Alternative sequencei42 – 522481Missing in isoform 3. 1 PublicationVSP_038677Add
BLAST
Alternative sequencei355 – 38632Missing in isoform 2. 1 PublicationVSP_038678Add
BLAST
Alternative sequencei495 – 52228GWSTM…PQPPE → ENIRKKANAAPSAPRRCTAM in isoform 1. 1 PublicationVSP_038675Add
BLAST

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ495B1.
SMRiQ495B1. Positions 15-418.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131506. 2 interactions.
IntActiQ495B1. 1 interaction.
STRINGi9606.ENSP00000369579.

PTM databases

iPTMnetiQ495B1.
PhosphoSiteiQ495B1.

Polymorphism and mutation databases

BioMutaiANKDD1A.
DMDMi288558803.

Proteomic databases

PaxDbiQ495B1.
PeptideAtlasiQ495B1.
PRIDEiQ495B1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi348094.
GeneCardsiANKDD1A.
HGNCiHGNC:28002. ANKDD1A.
HPAiHPA040757.
neXtProtiNX_Q495B1.
PharmGKBiPA143485299.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4177. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00790000122981.
HOGENOMiHOG000273862.
HOVERGENiHBG100885.
InParanoidiQ495B1.
OMAiWRLASRY.
OrthoDBiEOG7H1JK9.
PhylomeDBiQ495B1.
TreeFamiTF333615.

Miscellaneous databases

ChiTaRSiANKDD1A. human.
GenomeRNAii348094.
PROiQ495B1.

Gene expression databases

BgeeiQ495B1.
CleanExiHS_ANKDD1A.
ExpressionAtlasiQ495B1. baseline and differential.
GenevisibleiQ495B1. HS.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR011029. DEATH-like_dom.
IPR000488. Death_domain.
[Graphical view]
PfamiPF00023. Ank. 1 hit.
PF12796. Ank_2. 2 hits.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 10 hits.
[Graphical view]
SUPFAMiSSF47986. SSF47986. 1 hit.
SSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 8 hits.
PS50017. DEATH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "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 3).
    Tissue: Brain.
  2. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 92-522 (ISOFORMS 1 AND 2), VARIANT GLU-355.

Entry informationi

Entry nameiAKD1A_HUMAN
AccessioniPrimary (citable) accession number: Q495B1
Secondary accession number(s): Q495B2
, Q495B3, Q8N7A0, Q8NBS5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: February 9, 2010
Last modified: July 6, 2016
This is version 99 of the entry and version 2 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 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
  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.