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Protein

RING finger protein 113A

Gene

RNF113A

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

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri196 – 224C3H1-typePROSITE-ProRule annotationAdd BLAST29
Zinc fingeri262 – 300RING-typePROSITE-ProRule annotationAdd BLAST39

GO - Molecular functioni

GO - Biological processi

Keywordsi

LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
RING finger protein 113A
Alternative name(s):
Zinc finger protein 183
Gene namesi
Name:RNF113A
Synonyms:RNF113, ZNF183
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000125352.5
HGNCiHGNC:12974 RNF113A
MIMi300951 gene
neXtProtiNX_O15541

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

Pathology & Biotechi

Involvement in diseasei

Trichothiodystrophy 5, non-photosensitive (TTD5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA X-linked form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD5 features include microcephaly, profound intellectual disability, sparse brittle hair, aged appearance, short stature, facial dysmorphism, seizures, an immunoglobulin deficiency, multiple endocrine abnormalities, cerebellar hypoplasia and partial absence of the corpus callosum, in the absence of cellular photosensitivity and ichthyosis.
See also OMIM:300953

Organism-specific databases

DisGeNETi7737
MalaCardsiRNF113A
MIMi300953 phenotype
OpenTargetsiENSG00000125352
PharmGKBiPA37556

Polymorphism and mutation databases

BioMutaiRNF113A

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000560872 – 343RING finger protein 113AAdd BLAST342

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei6PhosphoserineCombined sources1
Modified residuei84PhosphoserineCombined sources1
Modified residuei85PhosphoserineCombined sources1
Modified residuei253PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO15541
MaxQBiO15541
PaxDbiO15541
PeptideAtlasiO15541
PRIDEiO15541
ProteomicsDBi48749

PTM databases

iPTMnetiO15541
PhosphoSitePlusiO15541

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000125352
CleanExiHS_RNF113A
GenevisibleiO15541 HS

Organism-specific databases

HPAiHPA000160
HPA076658

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi113523, 21 interactors
IntActiO15541, 14 interactors
MINTiO15541
STRINGi9606.ENSP00000360497

Structurei

3D structure databases

ProteinModelPortaliO15541
SMRiO15541
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi86 – 94Poly-Glu9

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri196 – 224C3H1-typePROSITE-ProRule annotationAdd BLAST29
Zinc fingeri262 – 300RING-typePROSITE-ProRule annotationAdd BLAST39

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG1813 Eukaryota
COG5152 LUCA
GeneTreeiENSGT00390000016292
HOGENOMiHOG000174759
HOVERGENiHBG060697
InParanoidiO15541
KOiK13127
OMAiRGLNNYA
OrthoDBiEOG091G0FAM
PhylomeDBiO15541
TreeFamiTF313469

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR000571 Znf_CCCH
IPR036855 Znf_CCCH_sf
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR017907 Znf_RING_CS
PfamiView protein in Pfam
PF00642 zf-CCCH, 1 hit
SMARTiView protein in SMART
SM00184 RING, 1 hit
SM00356 ZnF_C3H1, 1 hit
SUPFAMiSSF90229 SSF90229, 1 hit
PROSITEiView protein in PROSITE
PS50103 ZF_C3H1, 1 hit
PS00518 ZF_RING_1, 1 hit
PS50089 ZF_RING_2, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

O15541-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAEQLSPGKA VDQVCTFLFK KPGRKGAAGR RKRPACDPEP GESGSSSDEG
60 70 80 90 100
CTVVRPEKKR VTHNPMIQKT RDSGKQKAAY GDLSSEEEEE NEPESLGVVY
110 120 130 140 150
KSTRSAKPVG PEDMGATAVY ELDTEKERDA QAIFERSQKI QEELRGKEDD
160 170 180 190 200
KIYRGINNYQ KYMKPKDTSM GNASSGMVRK GPIRAPEHLR ATVRWDYQPD
210 220 230 240 250
ICKDYKETGF CGFGDSCKFL HDRSDYKHGW QIERELDEGR YGVYEDENYE
260 270 280 290 300
VGSDDEEIPF KCFICRQSFQ NPVVTKCRHY FCESCALQHF RTTPRCYVCD
310 320 330 340
QQTNGVFNPA KELIAKLEKH RATGEGGASD LPEDPDEDAI PIT
Length:343
Mass (Da):38,787
Last modified:January 1, 1998 - v1
Checksum:iF76E28037A6FF78B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti21K → R in BAG37314 (PubMed:14702039).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X98253 mRNA Translation: CAA66907.1
AK314778 mRNA Translation: BAG37314.1
BT007175 mRNA Translation: AAP35839.1
AC002477 Genomic DNA Translation: AAB67605.1
BC000832 mRNA Translation: AAH00832.1
BC020556 mRNA Translation: AAH20556.1
CCDSiCCDS14589.1
RefSeqiNP_008909.1, NM_006978.2
UniGeneiHs.458365

Genome annotation databases

EnsembliENST00000371442; ENSP00000360497; ENSG00000125352
GeneIDi7737
KEGGihsa:7737
UCSCiuc004esb.4 human

Similar proteinsi

Entry informationi

Entry nameiR113A_HUMAN
AccessioniPrimary (citable) accession number: O15541
Secondary accession number(s): B2RBR7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: June 20, 2018
This is version 155 of the entry and version 1 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 X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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