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Protein

Rhomboid domain-containing protein 3

Gene

RHBDD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Rhomboid domain-containing protein 3
Gene namesi
Name:RHBDD3
Synonyms:C22orf3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:1308. RHBDD3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei20 – 4021HelicalSequence analysisAdd
BLAST
Transmembranei58 – 7821HelicalSequence analysisAdd
BLAST
Transmembranei92 – 11221HelicalSequence analysisAdd
BLAST
Transmembranei141 – 16121HelicalSequence analysisAdd
BLAST
Transmembranei163 – 18321HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25887.

Polymorphism and mutation databases

BioMutaiRHBDD3.
DMDMi20177875.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 386386Rhomboid domain-containing protein 3PRO_0000079569Add
BLAST

Proteomic databases

EPDiQ9Y3P4.
MaxQBiQ9Y3P4.
PaxDbiQ9Y3P4.
PRIDEiQ9Y3P4.
TopDownProteomicsiQ9Y3P4.

PTM databases

iPTMnetiQ9Y3P4.
PhosphoSiteiQ9Y3P4.

Expressioni

Gene expression databases

BgeeiQ9Y3P4.
CleanExiHS_RHBDD3.
ExpressionAtlasiQ9Y3P4. baseline and differential.
GenevisibleiQ9Y3P4. HS.

Organism-specific databases

HPAiHPA043979.

Interactioni

Protein-protein interaction databases

BioGridi117339. 16 interactions.
IntActiQ9Y3P4. 1 interaction.
STRINGi9606.ENSP00000216085.

Structurei

3D structure databases

ProteinModelPortaliQ9Y3P4.
SMRiQ9Y3P4. Positions 13-181.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini324 – 36239UBAAdd
BLAST

Sequence similaritiesi

Contains 1 UBA domain.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2632. Eukaryota.
ENOG41100KJ. LUCA.
GeneTreeiENSGT00390000013711.
HOGENOMiHOG000286033.
HOVERGENiHBG079911.
InParanoidiQ9Y3P4.
OMAiGCGYMPV.
OrthoDBiEOG7GXPC8.
PhylomeDBiQ9Y3P4.
TreeFamiTF332785.

Family and domain databases

Gene3Di1.20.1540.10. 1 hit.
InterProiIPR022764. Peptidase_S54_rhomboid_dom.
IPR015940. UBA.
IPR009060. UBA-like.
[Graphical view]
PfamiPF01694. Rhomboid. 1 hit.
PF00627. UBA. 1 hit.
[Graphical view]
SUPFAMiSSF46934. SSF46934. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9Y3P4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MHARGPHGQL SPALPLASSV LMLLMSTLWL VGAGPGLVLA PELLLDPWQV
60 70 80 90 100
HRLLTHALGH TALPGLLLSL LLLPTVGWQQ ECHLGTLRFL HASALLALAS
110 120 130 140 150
GLLAVLLAGL GLSSAAGSCG YMPVHLAMLA GEGHRPRRPR GALPPWLSPW
160 170 180 190 200
LLLALTPLLS SEPPFLQLLC GLLAGLAYAA GAFRWLEPSE RRLQVLQEGV
210 220 230 240 250
LCRTLAGCWP LRLLATPGSL AELPVTHPAG VRPPIPGPPY VASPDLWSHW
260 270 280 290 300
EDSALPPPSL RPVQPTWEGS SEAGLDWAGA SFSPGTPMWA ALDEQMLQEG
310 320 330 340 350
IQASLLDGPA QEPQSAPWLS KSSVSSLRLQ QLERMGFPTE QAVVALAATG
360 370 380
RVEGAVSLLV GGQVGTETLV THGKGGPAHS EGPGPP
Length:386
Mass (Da):40,484
Last modified:November 1, 1999 - v1
Checksum:i48412BA5A9DD5C6B
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti86 – 861T → M.
Corresponds to variant rs2272902 [ dbSNP | Ensembl ].
VAR_021952
Natural varianti227 – 2271H → R.
Corresponds to variant rs2231397 [ dbSNP | Ensembl ].
VAR_051582

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL050346 mRNA. Translation: CAB43551.1.
CR457382 mRNA. Translation: CAG33663.1.
CR456411 mRNA. Translation: CAG30297.1.
AL031186 Genomic DNA. Translation: CAI18000.1.
BC002705 mRNA. Translation: AAH02705.1.
CCDSiCCDS13850.1.
RefSeqiNP_036397.1. NM_012265.1.
XP_011528409.1. XM_011530107.1.
UniGeneiHs.106730.

Genome annotation databases

EnsembliENST00000216085; ENSP00000216085; ENSG00000100263.
GeneIDi25807.
KEGGihsa:25807.
UCSCiuc003aeq.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL050346 mRNA. Translation: CAB43551.1.
CR457382 mRNA. Translation: CAG33663.1.
CR456411 mRNA. Translation: CAG30297.1.
AL031186 Genomic DNA. Translation: CAI18000.1.
BC002705 mRNA. Translation: AAH02705.1.
CCDSiCCDS13850.1.
RefSeqiNP_036397.1. NM_012265.1.
XP_011528409.1. XM_011530107.1.
UniGeneiHs.106730.

3D structure databases

ProteinModelPortaliQ9Y3P4.
SMRiQ9Y3P4. Positions 13-181.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117339. 16 interactions.
IntActiQ9Y3P4. 1 interaction.
STRINGi9606.ENSP00000216085.

PTM databases

iPTMnetiQ9Y3P4.
PhosphoSiteiQ9Y3P4.

Polymorphism and mutation databases

BioMutaiRHBDD3.
DMDMi20177875.

Proteomic databases

EPDiQ9Y3P4.
MaxQBiQ9Y3P4.
PaxDbiQ9Y3P4.
PRIDEiQ9Y3P4.
TopDownProteomicsiQ9Y3P4.

Protocols and materials databases

DNASUi25807.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216085; ENSP00000216085; ENSG00000100263.
GeneIDi25807.
KEGGihsa:25807.
UCSCiuc003aeq.2. human.

Organism-specific databases

CTDi25807.
GeneCardsiRHBDD3.
HGNCiHGNC:1308. RHBDD3.
HPAiHPA043979.
neXtProtiNX_Q9Y3P4.
PharmGKBiPA25887.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2632. Eukaryota.
ENOG41100KJ. LUCA.
GeneTreeiENSGT00390000013711.
HOGENOMiHOG000286033.
HOVERGENiHBG079911.
InParanoidiQ9Y3P4.
OMAiGCGYMPV.
OrthoDBiEOG7GXPC8.
PhylomeDBiQ9Y3P4.
TreeFamiTF332785.

Miscellaneous databases

ChiTaRSiRHBDD3. human.
GenomeRNAii25807.
NextBioi47027.
PROiQ9Y3P4.

Gene expression databases

BgeeiQ9Y3P4.
CleanExiHS_RHBDD3.
ExpressionAtlasiQ9Y3P4. baseline and differential.
GenevisibleiQ9Y3P4. HS.

Family and domain databases

Gene3Di1.20.1540.10. 1 hit.
InterProiIPR022764. Peptidase_S54_rhomboid_dom.
IPR015940. UBA.
IPR009060. UBA-like.
[Graphical view]
PfamiPF01694. Rhomboid. 1 hit.
PF00627. UBA. 1 hit.
[Graphical view]
SUPFAMiSSF46934. SSF46934. 1 hit.
ProtoNetiSearch...

Publicationsi

  1. "Reevaluating human gene annotation: a second-generation analysis of chromosome 22."
    Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S., Bye J.M., Beare D.M., Dunham I.
    Genome Res. 13:27-36(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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].
    Tissue: Brain.

Entry informationi

Entry nameiRHBD3_HUMAN
AccessioniPrimary (citable) accession number: Q9Y3P4
Secondary accession number(s): Q6I9X3, Q9UGQ7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: November 1, 1999
Last modified: March 16, 2016
This is version 121 of the entry and version 1 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 22
    Human chromosome 22: 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.