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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

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

PharmGKBiPA142672609.

Polymorphism and mutation databases

BioMutaiANKRD42.
DMDMi116241248.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 389389Ankyrin repeat domain-containing protein 42PRO_0000244371Add
BLAST

Proteomic databases

EPDiQ8N9B4.
PaxDbiQ8N9B4.
PeptideAtlasiQ8N9B4.
PRIDEiQ8N9B4.

PTM databases

iPTMnetiQ8N9B4.
PhosphoSiteiQ8N9B4.

Expressioni

Gene expression databases

BgeeiQ8N9B4.
CleanExiHS_ANKRD42.
ExpressionAtlasiQ8N9B4. baseline and differential.

Organism-specific databases

HPAiHPA039917.

Interactioni

Protein-protein interaction databases

BioGridi130783. 1 interaction.
IntActiQ8N9B4. 1 interaction.
STRINGi9606.ENSP00000377051.

Structurei

3D structure databases

ProteinModelPortaliQ8N9B4.
SMRiQ8N9B4. Positions 17-350.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati25 – 6036ANK 1Add
BLAST
Repeati64 – 9330ANK 2Add
BLAST
Repeati97 – 12630ANK 3Add
BLAST
Repeati130 – 15930ANK 4Add
BLAST
Repeati163 – 19230ANK 5Add
BLAST
Repeati200 – 23233ANK 6Add
BLAST
Repeati235 – 26531ANK 7Add
BLAST
Repeati269 – 29830ANK 8Add
BLAST
Repeati302 – 33231ANK 9Add
BLAST

Sequence similaritiesi

Contains 9 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
KOG4412. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00600000084407.
HOGENOMiHOG000033964.
HOVERGENiHBG069165.
InParanoidiQ8N9B4.
KOiK17593.
OrthoDBiEOG7WQ7S9.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti156 – 1561S → G in BAC04496 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti198 – 1981N → D.
Corresponds to variant rs17515016 [ dbSNP | Ensembl ].
VAR_028366

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei46 – 461V → VVRGASINELDVLHKFTPLH WAAHSGSLE in isoform 2. 1 PublicationVSP_019559
Alternative sequencei168 – 1703VHL → EPP in isoform 2. 1 PublicationVSP_019560
Alternative sequencei171 – 389219Missing in isoform 2. 1 PublicationVSP_019561Add
BLAST

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. Positions 17-350.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130783. 1 interaction.
IntActiQ8N9B4. 1 interaction.
STRINGi9606.ENSP00000377051.

PTM databases

iPTMnetiQ8N9B4.
PhosphoSiteiQ8N9B4.

Polymorphism and mutation databases

BioMutaiANKRD42.
DMDMi116241248.

Proteomic databases

EPDiQ8N9B4.
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.
PharmGKBiPA142672609.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
KOG4412. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00600000084407.
HOGENOMiHOG000033964.
HOVERGENiHBG069165.
InParanoidiQ8N9B4.
KOiK17593.
OrthoDBiEOG7WQ7S9.
PhylomeDBiQ8N9B4.
TreeFamiTF354335.

Miscellaneous databases

ChiTaRSiANKRD42. human.
GenomeRNAii338699.
PROiQ8N9B4.

Gene expression databases

BgeeiQ8N9B4.
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...

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 1).
    Tissue: Substantia nigra.
  2. "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] (ISOFORM 2).
    Tissue: Brain.

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: July 6, 2016
This is version 110 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.