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Protein

Ankyrin repeat domain-containing protein 13C

Gene

ANKRD13C

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

Functioni

Acts as a molecular chaperone for G protein-coupled receptors, regulating their biogenesis and exit from the ER.1 Publication

GO - Molecular functioni

  • signaling receptor binding Source: BHF-UCL

GO - Biological processi

  • protein retention in ER lumen Source: BHF-UCL
  • regulation of anoikis Source: BHF-UCL
  • regulation of receptor biosynthetic process Source: BHF-UCL

Keywordsi

Molecular functionChaperone

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat domain-containing protein 13C
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000118454.12
HGNCiHGNC:25374 ANKRD13C
MIMi615125 gene
neXtProtiNX_Q8N6S4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000118454
PharmGKBiPA142672617

Polymorphism and mutation databases

BioMutaiANKRD13C
DMDMi109940205

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002406451 – 541Ankyrin repeat domain-containing protein 13CAdd BLAST541

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei411PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8N6S4
MaxQBiQ8N6S4
PaxDbiQ8N6S4
PeptideAtlasiQ8N6S4
PRIDEiQ8N6S4
ProteomicsDBi72222
72223 [Q8N6S4-2]
72224 [Q8N6S4-3]

PTM databases

iPTMnetiQ8N6S4
PhosphoSitePlusiQ8N6S4

Expressioni

Gene expression databases

BgeeiENSG00000118454 Expressed in 196 organ(s), highest expression level in corpus callosum
CleanExiHS_ANKRD13C
GenevisibleiQ8N6S4 HS

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123534, 11 interactors
IntActiQ8N6S4, 1 interactor
STRINGi9606.ENSP00000359982

Structurei

3D structure databases

ProteinModelPortaliQ8N6S4
SMRiQ8N6S4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati111 – 142ANK 1Add BLAST32
Repeati143 – 172ANK 2Add BLAST30
Repeati176 – 205ANK 3Add BLAST30

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi30 – 33Poly-Ala4

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0522 Eukaryota
ENOG410XNMS LUCA
GeneTreeiENSGT00410000025381
HOGENOMiHOG000007095
HOVERGENiHBG079639
InParanoidiQ8N6S4
KOiK21437
OMAiYPMHQSV
OrthoDBiEOG091G06FU
PhylomeDBiQ8N6S4
TreeFamiTF314176

Family and domain databases

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR021832 ANKRD13
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
PANTHERiPTHR12447 PTHR12447, 1 hit
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PF11904 GPCR_chapero_1, 1 hit
SMARTiView protein in SMART
SM00248 ANK, 2 hits
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8N6S4-1) [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
MTGEKIRSLR RDHKPSKEEG DLLEPGDEEA AAALGGTFTR SRIGKGGKAC
60 70 80 90 100
HKIFSNHHHR LQLKAAPASS NPPGAPALPL HNSSVTANSQ SPALLAGTNP
110 120 130 140 150
VAVVADGGSC PAHYPVHECV FKGDVRRLSS LIRTHNIGQK DNHGNTPLHL
160 170 180 190 200
AVMLGNKECA HLLLAHNAPV KVKNAQGWSP LAEAISYGDR QMITALLRKL
210 220 230 240 250
KQQSRESVEE KRPRLLKALK ELGDFYLELH WDFQSWVPLL SRILPSDACK
260 270 280 290 300
IYKQGINIRL DTTLIDFTDM KCQRGDLSFI FNGDAAPSES FVVLDNEQKV
310 320 330 340 350
YQRIHHEESE METEEEVDIL MSSDIYSATL STKSISFTRA QTGWLFREDK
360 370 380 390 400
TERVGNFLAD FYLVNGLVLE SRKRREHLSE EDILRNKAIM ESLSKGGNIM
410 420 430 440 450
EQNFEPIRRQ SLTPPPQNTI TWEEYISAEN GKAPHLGREL VCKESKKTFK
460 470 480 490 500
ATIAMSQEFP LGIELLLNVL EVVAPFKHFN KLREFVQMKL PPGFPVKLDI
510 520 530 540
PVFPTITATV TFQEFRYDEF DGSIFTIPDD YKEDPSRFPD L
Length:541
Mass (Da):60,818
Last modified:June 27, 2006 - v2
Checksum:i0215707FDFB92046
GO
Isoform 2 (identifier: Q8N6S4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     158-193: ECAHLLLAHNAPVKVKNAQGWSPLAEAISYGDRQMI → V

Note: No experimental confirmation available.
Show »
Length:506
Mass (Da):57,003
Checksum:iC907ED83B395E6BB
GO
Isoform 3 (identifier: Q8N6S4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     145-147: NTP → EEC
     148-541: Missing.

Note: No experimental confirmation available.
Show »
Length:147
Mass (Da):15,550
Checksum:iCC81CA5B6D459960
GO

Sequence cautioni

The sequence BAG51959 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti369L → I in CAB66651 (PubMed:11230166).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026825413T → S1 PublicationCorresponds to variant dbSNP:rs17852616Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_019406145 – 147NTP → EEC in isoform 3. 1 Publication3
Alternative sequenceiVSP_019407148 – 541Missing in isoform 3. 1 PublicationAdd BLAST394
Alternative sequenceiVSP_019408158 – 193ECAHL…DRQMI → V in isoform 2. 1 PublicationAdd BLAST36

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136717 mRNA Translation: CAB66651.1
AL158839 Genomic DNA No translation available.
AL353771 Genomic DNA No translation available.
AL354721 Genomic DNA No translation available.
BC016937 mRNA Translation: AAH16937.1
BC028840 mRNA Translation: AAH28840.1
AK074187 mRNA Translation: BAG51959.1 Different initiation.
CCDSiCCDS648.2 [Q8N6S4-1]
RefSeqiNP_110443.3, NM_030816.4 [Q8N6S4-1]
UniGeneiHs.744989

Genome annotation databases

EnsembliENST00000262346; ENSP00000262346; ENSG00000118454 [Q8N6S4-2]
ENST00000370944; ENSP00000359982; ENSG00000118454 [Q8N6S4-1]
GeneIDi81573
KEGGihsa:81573
UCSCiuc001dex.5 human [Q8N6S4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136717 mRNA Translation: CAB66651.1
AL158839 Genomic DNA No translation available.
AL353771 Genomic DNA No translation available.
AL354721 Genomic DNA No translation available.
BC016937 mRNA Translation: AAH16937.1
BC028840 mRNA Translation: AAH28840.1
AK074187 mRNA Translation: BAG51959.1 Different initiation.
CCDSiCCDS648.2 [Q8N6S4-1]
RefSeqiNP_110443.3, NM_030816.4 [Q8N6S4-1]
UniGeneiHs.744989

3D structure databases

ProteinModelPortaliQ8N6S4
SMRiQ8N6S4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123534, 11 interactors
IntActiQ8N6S4, 1 interactor
STRINGi9606.ENSP00000359982

PTM databases

iPTMnetiQ8N6S4
PhosphoSitePlusiQ8N6S4

Polymorphism and mutation databases

BioMutaiANKRD13C
DMDMi109940205

Proteomic databases

EPDiQ8N6S4
MaxQBiQ8N6S4
PaxDbiQ8N6S4
PeptideAtlasiQ8N6S4
PRIDEiQ8N6S4
ProteomicsDBi72222
72223 [Q8N6S4-2]
72224 [Q8N6S4-3]

Protocols and materials databases

DNASUi81573
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262346; ENSP00000262346; ENSG00000118454 [Q8N6S4-2]
ENST00000370944; ENSP00000359982; ENSG00000118454 [Q8N6S4-1]
GeneIDi81573
KEGGihsa:81573
UCSCiuc001dex.5 human [Q8N6S4-1]

Organism-specific databases

CTDi81573
EuPathDBiHostDB:ENSG00000118454.12
GeneCardsiANKRD13C
H-InvDBiHIX0000694
HGNCiHGNC:25374 ANKRD13C
MIMi615125 gene
neXtProtiNX_Q8N6S4
OpenTargetsiENSG00000118454
PharmGKBiPA142672617
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0522 Eukaryota
ENOG410XNMS LUCA
GeneTreeiENSGT00410000025381
HOGENOMiHOG000007095
HOVERGENiHBG079639
InParanoidiQ8N6S4
KOiK21437
OMAiYPMHQSV
OrthoDBiEOG091G06FU
PhylomeDBiQ8N6S4
TreeFamiTF314176

Miscellaneous databases

ChiTaRSiANKRD13C human
GeneWikiiANKRD13C
GenomeRNAii81573
PROiPR:Q8N6S4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000118454 Expressed in 196 organ(s), highest expression level in corpus callosum
CleanExiHS_ANKRD13C
GenevisibleiQ8N6S4 HS

Family and domain databases

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR021832 ANKRD13
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
PANTHERiPTHR12447 PTHR12447, 1 hit
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PF11904 GPCR_chapero_1, 1 hit
SMARTiView protein in SMART
SM00248 ANK, 2 hits
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAN13C_HUMAN
AccessioniPrimary (citable) accession number: Q8N6S4
Secondary accession number(s): B3KQ97
, Q5VYH4, Q5VYH5, Q6PJE4, Q9H0N9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 27, 2006
Last modified: October 10, 2018
This is version 132 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 1
    Human chromosome 1: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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