Q9HBD1 (RC3H2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 81.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: RING finger and CCCH-type zinc finger domain-containing protein 2 Alternative name(s): Membrane-associated nucleic acid-binding protein RING finger protein 164 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1191 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Subunit structure | Binds DNA. |
| Subcellular location | Cytoplasm › perinuclear region. Endomembrane system. Note: Membrane-associated. Primarily localizes to the perinuclear space, probably to the endoplasmic reticulum or trans-Golgi network. Ref.1 |
| Tissue specificity | Expressed in spleen, testis, ovary and small intestine. Ref.1 |
| Sequence similarities | Contains 1 C3H1-type zinc finger. Contains 1 RING-type zinc finger. |
| Sequence caution | The sequence BAA91340.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB15634.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Membrane |
| Coding sequence diversity | Alternative splicing |
| Domain | Zinc-finger |
| Ligand | DNA-binding Metal-binding Zinc |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | cell surface Inferred from direct assay Ref.1. Source: UniProtKB endomembrane systemInferred from electronic annotation. Source: UniProtKB-SubCell membraneInferred from direct assay Ref.1. Source: UniProtKB perinuclear region of cytoplasmInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | DNA binding Inferred from direct assay Ref.1. Source: UniProtKB zinc ion bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9HBD1-1) 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. | ||||||
| Isoform 2 (identifier: Q9HBD1-2) The sequence of this isoform differs from the canonical sequence as follows: 454-478: VRTFPLLNKVGVNNTVTTTAGNVIS → EVLKQQGKLFQVQTEFQMQKTVFPS 479-1191: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9HBD1-3) The sequence of this isoform differs from the canonical sequence as follows: 443-506: YRLRNKKINA...SNAENSVSQL → CNPRGLYLHC...SPLEEPREED 507-1191: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q9HBD1-4) The sequence of this isoform differs from the canonical sequence as follows: 1040-1191: LQSDYTEDAT...PVANGKMVNS → VKKLNLSASCLMYLFSAAASWLYHY | ||||||
| Isoform 5 (identifier: Q9HBD1-5) The sequence of this isoform differs from the canonical sequence as follows: 195-218: AMQEEALKLVLLALEDGSALSRKV → GKIGYYLTFFISYWGLRMPISGAR 219-1191: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 6 (identifier: Q9HBD1-6) The sequence of this isoform differs from the canonical sequence as follows: 1-195: Missing. 1040-1191: LQSDYTEDAT...PVANGKMVNS → VKKLNLSASCLMYLFSAAASWLYHY | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1191 | 1191 | RING finger and CCCH-type zinc finger domain-containing protein 2 | PRO_0000055968 | |||||
Regions | |||||||||
| Zinc finger | 14 – 54 | 41 | RING-type; degenerate | ||||||
| Zinc finger | 410 – 438 | 29 | C3H1-type | ||||||
| Compositional bias | 576 – 704 | 129 | Pro-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 549 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 808 | 1 | Phosphoserine Ref.8 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 195 | 195 | Missing in isoform 6. | VSP_015017 | |||||
| Alternative sequence | 195 – 218 | 24 | AMQEE…LSRKV → GKIGYYLTFFISYWGLRMPI SGAR in isoform 5. | VSP_015018 | |||||
| Alternative sequence | 219 – 1191 | 973 | Missing in isoform 5. | VSP_015019 | |||||
| Alternative sequence | 443 – 506 | 64 | YRLRN…SVSQL → CNPRGLYLHCCLLSSVASLG TVHNELYKQQHCDREKISVC AVKRAETCFSSQFFSPLEEP REED in isoform 3. | VSP_015020 | |||||
| Alternative sequence | 454 – 478 | 25 | VRTFP…GNVIS → EVLKQQGKLFQVQTEFQMQK TVFPS in isoform 2. | VSP_015021 | |||||
| Alternative sequence | 479 – 1191 | 713 | Missing in isoform 2. | VSP_015022 | |||||
| Alternative sequence | 507 – 1191 | 685 | Missing in isoform 3. | VSP_015023 | |||||
| Alternative sequence | 1040 – 1191 | 152 | LQSDY…KMVNS → VKKLNLSASCLMYLFSAAAS WLYHY in isoform 4 and isoform 6. | VSP_015024 | |||||
Experimental info | |||||||||
| Sequence conflict | 650 | 1 | A → G in BAA91073. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A human gene coding for a membrane-associated nucleic acid-binding protein." Siess D.C., Vedder C.T., Merkens L.S., Tanaka T., Freed A.C., McCoy S.L., Heinrich M.C., Deffebach M.E., Bennett R.M., Hefeneider S.H. J. Biol. Chem. 275:33655-33662(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, DNA-BINDING, TISSUE SPECIFICITY. Tissue: Monocyte. |
| [2] | "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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 509-1191. Tissue: Hepatoma. |
| [3] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 337-1191 (ISOFORM 4). Tissue: Lymph node and Melanoma. |
| [4] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 42-1191 (ISOFORM 5). Tissue: Brain and Uterus. |
| [7] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-549, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [8] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-808, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF255303 mRNA. Translation: AAG00432.1. AF255304 mRNA. Translation: AAG00433.1. AK000308 mRNA. Translation: BAA91073.1. AK000720 mRNA. Translation: BAA91340.1. Different initiation. AK027042 mRNA. Translation: BAB15634.1. Different initiation. AL833177 mRNA. Translation: CAI46182.1. AL834431 mRNA. Translation: CAD39091.1. AL359512, AC007066 Genomic DNA. Translation: CAI94964.1. CH471090 Genomic DNA. Translation: EAW87547.1. BC011688 mRNA. Translation: AAH11688.2. BC044642 mRNA. Translation: AAH44642.1. |
| IPI | IPI00177819. IPI00386606. IPI00552838. IPI00643035. IPI00643666. IPI00873992. |
| RefSeq | NP_001094058.1. NM_001100588.1. NP_061323.2. NM_018835.2. |
| UniGene | Hs.533499. |
3D structure databases | |
| ProteinModelPortal | Q9HBD1. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9HBD1. 3 interactions. |
PTM databases | |
| PhosphoSite | Q9HBD1. |
Polymorphism databases | |
| DMDM | 73621223. |
Proteomic databases | |
| PaxDb | Q9HBD1. |
| PRIDE | Q9HBD1. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000357244; ENSP00000349783; ENSG00000056586. ENST00000373665; ENSP00000362769; ENSG00000056586. ENST00000373670; ENSP00000362774; ENSG00000056586. ENST00000423239; ENSP00000411767; ENSG00000056586. |
| GeneID | 54542. |
| KEGG | hsa:54542. |
| UCSC | uc004bnd.1. human. uc004bne.4. human. uc004bng.1. human. uc011lzg.2. human. |
Organism-specific databases | |
| CTD | 54542. |
| GeneCards | GC09M125606. |
| HGNC | HGNC:21461. RC3H2. |
| HPA | HPA042863. |
| neXtProt | NX_Q9HBD1. |
| PharmGKB | PA162400905. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG320727. |
| HOVERGEN | HBG080524. |
| InParanoid | Q9HBD1. |
| KO | K15690. |
| OMA | CFSQPLP. |
| OrthoDB | EOG4BG8V7. |
Gene expression databases | |
| ArrayExpress | Q9HBD1. |
| Bgee | Q9HBD1. |
| CleanEx | HS_RC3H2. |
| Genevestigator | Q9HBD1. |
| GermOnline | ENSG00000056586. Homo sapiens. |
Family and domain databases | |
| Gene3D | 3.30.40.10. 1 hit. |
| InterPro | IPR000571. Znf_CCCH. IPR001841. Znf_RING. IPR013083. Znf_RING/FYVE/PHD. IPR017907. Znf_RING_CS. [Graphical view] |
| Pfam | PF00642. zf-CCCH. 1 hit. [Graphical view] |
| SMART | SM00184. RING. 1 hit. SM00356. ZnF_C3H1. 1 hit. [Graphical view] |
| PROSITE | PS50103. ZF_C3H1. 1 hit. PS00518. ZF_RING_1. 1 hit. PS50089. ZF_RING_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | RC3H2. human. |
| GenomeRNAi | 54542. |
| NextBio | 56985. |
Entry information
| Entry name | RC3H2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9HBD1 Secondary accession number(s): Q4VXB1 Q9NXE1 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| SIMILARITY comments Index of protein domains and families |

Clusters with
