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Protein

Ankyrin repeat domain-containing protein 29

Gene

ANKRD29

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

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat domain-containing protein 29
Gene namesi
Name:ANKRD29
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000154065.16.
HGNCiHGNC:27110. ANKRD29.

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000154065.
PharmGKBiPA134948058.

Polymorphism and mutation databases

BioMutaiANKRD29.
DMDMi109940219.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002439031 – 301Ankyrin repeat domain-containing protein 29Add BLAST301

Proteomic databases

PaxDbiQ8N6D5.
PeptideAtlasiQ8N6D5.
PRIDEiQ8N6D5.

PTM databases

iPTMnetiQ8N6D5.
PhosphoSitePlusiQ8N6D5.

Expressioni

Gene expression databases

BgeeiENSG00000154065.
CleanExiHS_ANKRD29.
ExpressionAtlasiQ8N6D5. baseline and differential.
GenevisibleiQ8N6D5. HS.

Organism-specific databases

HPAiHPA041272.
HPA049419.

Interactioni

Protein-protein interaction databases

BioGridi127061. 7 interactors.
STRINGi9606.ENSP00000468354.

Structurei

3D structure databases

ProteinModelPortaliQ8N6D5.
SMRiQ8N6D5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati11 – 41ANK 1Add BLAST31
Repeati45 – 74ANK 2Add BLAST30
Repeati78 – 107ANK 3Add BLAST30
Repeati111 – 140ANK 4Add BLAST30
Repeati144 – 173ANK 5Add BLAST30
Repeati177 – 206ANK 6Add BLAST30
Repeati210 – 239ANK 7Add BLAST30
Repeati242 – 271ANK 8Add BLAST30

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00890000139328.
HOGENOMiHOG000158359.
HOVERGENiHBG080846.
InParanoidiQ8N6D5.
OMAiLIMQGAD.
OrthoDBiEOG091G0D0L.
PhylomeDBiQ8N6D5.

Family and domain databases

CDDicd00204. ANK. 3 hits.
Gene3Di1.25.40.20. 4 hits.
InterProiView protein in InterPro
IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
PfamiView protein in Pfam
PF00023. Ank. 1 hit.
PF12796. Ank_2. 3 hits.
PRINTSiPR01415. ANKYRIN.
SMARTiView protein in SMART
SM00248. ANK. 8 hits.
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiView protein in PROSITE
PS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 6 hits.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8N6D5-1) [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
MCRMSFKKET PLANAAFWAA RRGNLALLKL LLNSGRVDVD CRDSHGTTLL
60 70 80 90 100
MVAAYAGHID CVRELVLQGA DINLQRESGT TALFFAAQQG HNDVVRFLFG
110 120 130 140 150
FGASTEFRTK DGGTALLAAS QYGHMQVVET LLKHGANIHD QLYDGATALF
160 170 180 190 200
LAAQGGYLDV IRLLLASGAK VNQPRQDGTA PLWIASQMGH SEVVRVMLLR
210 220 230 240 250
GADRDAARND GTTALLKAAN KGYNDVIKEL LKFSPTLGIL KNGTSALHAA
260 270 280 290 300
VLSGNIKTVA LLLEAGADPS LRNKANELPA ELTKNERILR LLRSKEGPRK

S
Length:301
Mass (Da):32,442
Last modified:June 27, 2006 - v2
Checksum:i26B553175F6E2ED1
GO
Isoform 3 (identifier: Q8N6D5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     242-274: Missing.

Note: No experimental confirmation available.
Show »
Length:268
Mass (Da):29,158
Checksum:i5CBF876C344CF3F6
GO

Sequence cautioni

The sequence BAC85555 differs from that shown. Intron retention.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03561095V → M in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs767831283Ensembl.1
Natural variantiVAR_026869112G → E1 PublicationCorresponds to variant dbSNP:rs17855552Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_019488242 – 274Missing in isoform 3. 1 PublicationAdd BLAST33

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057782 mRNA. Translation: BAB71569.1.
AK123197 mRNA. Translation: BAC85555.1. Sequence problems.
AK313667 mRNA. Translation: BAG36419.1.
AC010853 Genomic DNA. No translation available.
CH471088 Genomic DNA. Translation: EAX01160.1.
BC030622 mRNA. Translation: AAH30622.1.
CCDSiCCDS11879.1. [Q8N6D5-1]
CCDS77164.1. [Q8N6D5-3]
RefSeqiNP_001295167.1. NM_001308238.1. [Q8N6D5-3]
NP_775776.2. NM_173505.3. [Q8N6D5-1]
UniGeneiHs.355689.
Hs.374774.

Genome annotation databases

EnsembliENST00000322980; ENSP00000323387; ENSG00000154065. [Q8N6D5-3]
ENST00000592179; ENSP00000468354; ENSG00000154065. [Q8N6D5-1]
GeneIDi147463.
KEGGihsa:147463.
UCSCiuc002kun.4. human. [Q8N6D5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiANR29_HUMAN
AccessioniPrimary (citable) accession number: Q8N6D5
Secondary accession number(s): B2R972, Q6ZWE8, Q96LU9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 27, 2006
Last modified: September 27, 2017
This is version 116 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 18
    Human chromosome 18: 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