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Protein

Ankyrin repeat domain-containing protein 42

Gene

ANKRD42

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

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000137494-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat domain-containing protein 42
Gene namesi
Name:ANKRD42
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:26752. ANKRD42.

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000137494.
PharmGKBiPA142672609.

Polymorphism and mutation databases

BioMutaiANKRD42.
DMDMi116241248.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002443711 – 389Ankyrin repeat domain-containing protein 42Add BLAST389

Proteomic databases

MaxQBiQ8N9B4.
PaxDbiQ8N9B4.
PeptideAtlasiQ8N9B4.
PRIDEiQ8N9B4.

PTM databases

iPTMnetiQ8N9B4.
PhosphoSitePlusiQ8N9B4.

Expressioni

Gene expression databases

BgeeiENSG00000137494.
CleanExiHS_ANKRD42.
ExpressionAtlasiQ8N9B4. baseline and differential.

Organism-specific databases

HPAiHPA039917.

Interactioni

Protein-protein interaction databases

BioGridi130783. 1 interactor.
IntActiQ8N9B4. 1 interactor.
STRINGi9606.ENSP00000377051.

Structurei

3D structure databases

ProteinModelPortaliQ8N9B4.
SMRiQ8N9B4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati25 – 60ANK 1Add BLAST36
Repeati64 – 93ANK 2Add BLAST30
Repeati97 – 126ANK 3Add BLAST30
Repeati130 – 159ANK 4Add BLAST30
Repeati163 – 192ANK 5Add BLAST30
Repeati200 – 232ANK 6Add BLAST33
Repeati235 – 265ANK 7Add BLAST31
Repeati269 – 298ANK 8Add BLAST30
Repeati302 – 332ANK 9Add BLAST31

Sequence similaritiesi

Contains 9 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
KOG4412. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00860000133720.
HOGENOMiHOG000033964.
HOVERGENiHBG069165.
InParanoidiQ8N9B4.
KOiK17593.
PhylomeDBiQ8N9B4.
TreeFamiTF354335.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR018247. EF_Hand_1_Ca_BS.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
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: Q8N9B4-1) [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
MPGVANSGPS TSSRETANPC SRKKVHFGSI HDAVRAGDVK QLSEIVCLHW
60 70 80 90 100
LLWHGADITH VTTRGWTASH IAAIRGQDAC VQALIMNGAN LTAQDDRGCT
110 120 130 140 150
PLHLAATHGH SFTLQIMLRS GVDPSVTDKR EWRPVHYAAF HGRLGCLQLL
160 170 180 190 200
VKWGCSIEDV DYNGNLPVHL AAMEGHLHCF KFLVSRMSSA TQVLKAFNDN
210 220 230 240 250
GENVLDLAQR FFKQNILQFI QGAEYEGKDL EDQETLAFPG HVAAFKGDLG
260 270 280 290 300
MLKKLVEDGV ININERADNG STPMHKAAGQ GHIECLQWLI KMGADSNITN
310 320 330 340 350
KAGERPSDVA KRFAHLAAVK LLEELQKYDI DDENEIDEND VKYFIRHGVE
360 370 380
GSTDAKDDLC LSDLDKTDAR RPSKNCRASW SMNDYVEKN
Length:389
Mass (Da):43,052
Last modified:October 17, 2006 - v2
Checksum:i0CE2E5CD08DD7F5E
GO
Isoform 2 (identifier: Q8N9B4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     46-46: V → VVRGASINELDVLHKFTPLHWAAHSGSLE
     168-170: VHL → EPP
     171-389: Missing.

Note: No experimental confirmation available.
Show »
Length:198
Mass (Da):21,574
Checksum:i5B17955273BA4659
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti156S → G in BAC04496 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028366198N → D.Corresponds to variant rs17515016dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01955946V → VVRGASINELDVLHKFTPLH WAAHSGSLE in isoform 2. 1 Publication1
Alternative sequenceiVSP_019560168 – 170VHL → EPP in isoform 2. 1 Publication3
Alternative sequenceiVSP_019561171 – 389Missing in isoform 2. 1 PublicationAdd BLAST219

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK095193 mRNA. Translation: BAC04496.1.
BC045621 mRNA. Translation: AAH45621.1.
CCDSiCCDS73355.1. [Q8N9B4-2]
CCDS8265.1. [Q8N9B4-1]
RefSeqiNP_001287901.1. NM_001300972.1.
NP_001287902.1. NM_001300973.1.
NP_001287904.1. NM_001300975.1.
NP_001287905.1. NM_001300976.1.
NP_001287906.1. NM_001300977.1. [Q8N9B4-2]
NP_872409.2. NM_182603.3. [Q8N9B4-1]
UniGeneiHs.503438.
Hs.657164.

Genome annotation databases

EnsembliENST00000393389; ENSP00000377049; ENSG00000137494. [Q8N9B4-2]
ENST00000393392; ENSP00000377051; ENSG00000137494. [Q8N9B4-1]
GeneIDi338699.
KEGGihsa:338699.
UCSCiuc001ozz.2. human. [Q8N9B4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK095193 mRNA. Translation: BAC04496.1.
BC045621 mRNA. Translation: AAH45621.1.
CCDSiCCDS73355.1. [Q8N9B4-2]
CCDS8265.1. [Q8N9B4-1]
RefSeqiNP_001287901.1. NM_001300972.1.
NP_001287902.1. NM_001300973.1.
NP_001287904.1. NM_001300975.1.
NP_001287905.1. NM_001300976.1.
NP_001287906.1. NM_001300977.1. [Q8N9B4-2]
NP_872409.2. NM_182603.3. [Q8N9B4-1]
UniGeneiHs.503438.
Hs.657164.

3D structure databases

ProteinModelPortaliQ8N9B4.
SMRiQ8N9B4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130783. 1 interactor.
IntActiQ8N9B4. 1 interactor.
STRINGi9606.ENSP00000377051.

PTM databases

iPTMnetiQ8N9B4.
PhosphoSitePlusiQ8N9B4.

Polymorphism and mutation databases

BioMutaiANKRD42.
DMDMi116241248.

Proteomic databases

MaxQBiQ8N9B4.
PaxDbiQ8N9B4.
PeptideAtlasiQ8N9B4.
PRIDEiQ8N9B4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000393389; ENSP00000377049; ENSG00000137494. [Q8N9B4-2]
ENST00000393392; ENSP00000377051; ENSG00000137494. [Q8N9B4-1]
GeneIDi338699.
KEGGihsa:338699.
UCSCiuc001ozz.2. human. [Q8N9B4-1]

Organism-specific databases

CTDi338699.
GeneCardsiANKRD42.
HGNCiHGNC:26752. ANKRD42.
HPAiHPA039917.
neXtProtiNX_Q8N9B4.
OpenTargetsiENSG00000137494.
PharmGKBiPA142672609.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
KOG4412. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00860000133720.
HOGENOMiHOG000033964.
HOVERGENiHBG069165.
InParanoidiQ8N9B4.
KOiK17593.
PhylomeDBiQ8N9B4.
TreeFamiTF354335.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000137494-MONOMER.

Miscellaneous databases

ChiTaRSiANKRD42. human.
GenomeRNAii338699.
PROiQ8N9B4.

Gene expression databases

BgeeiENSG00000137494.
CleanExiHS_ANKRD42.
ExpressionAtlasiQ8N9B4. baseline and differential.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR018247. EF_Hand_1_Ca_BS.
[Graphical view]
PfamiPF12796. Ank_2. 1 hit.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
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 nameiANR42_HUMAN
AccessioniPrimary (citable) accession number: Q8N9B4
Secondary accession number(s): Q49A49
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: October 17, 2006
Last modified: November 30, 2016
This is version 114 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 11
    Human chromosome 11: 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.