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Protein

Coiled-coil domain-containing protein R3HCC1L

Gene

R3HCC1L

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

Functioni

GO - Molecular functioni

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein R3HCC1L
Alternative name(s):
Growth inhibition and differentiation-related protein 88
Putative mitochondrial space protein 32.1
R3H and coiled-coil domain-containing protein 1-like
Gene namesi
Name:R3HCC1L
Synonyms:C10orf28, GIDRP88
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:23512. R3HCC1L.

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi14 – 207RPDMALY → EPDMALE: Loss of interaction with the EJC. 1 Publication

Polymorphism and mutation databases

BioMutaiR3HCC1L.
DMDMi71648680.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 792792Coiled-coil domain-containing protein R3HCC1LPRO_0000087487Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei688 – 6881PhosphoserineCombined sources
Modified residuei712 – 7121PhosphothreonineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ7Z5L2.
MaxQBiQ7Z5L2.
PaxDbiQ7Z5L2.
PeptideAtlasiQ7Z5L2.
PRIDEiQ7Z5L2.

PTM databases

iPTMnetiQ7Z5L2.
PhosphoSiteiQ7Z5L2.

Expressioni

Tissue specificityi

Expressed in placenta.

Gene expression databases

BgeeiQ7Z5L2.
CleanExiHS_C10orf28.
ExpressionAtlasiQ7Z5L2. baseline and differential.
GenevisibleiQ7Z5L2. HS.

Organism-specific databases

HPAiHPA037367.

Interactioni

Subunit structurei

May interact with the exon junction complex (EJC) composed at least of CASC3, EIF4A3, MAGOH and RBM8A.

Binary interactionsi

WithEntry#Exp.IntActNotes
CCDC103Q8IW403EBI-10262006,EBI-10261970

Protein-protein interaction databases

BioGridi118115. 10 interactions.
IntActiQ7Z5L2. 4 interactions.
STRINGi9606.ENSP00000298999.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni7 – 2721EJC-binding motif; may mediate interaction with the EJCAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili751 – 78333Sequence analysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4483. Eukaryota.
ENOG4110UEV. LUCA.
GeneTreeiENSGT00530000063711.
HOGENOMiHOG000112721.
HOVERGENiHBG057491.
InParanoidiQ7Z5L2.
OrthoDBiEOG741Z3D.
PhylomeDBiQ7Z5L2.
TreeFamiTF324168.

Family and domain databases

Gene3Di3.30.70.330. 1 hit.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7Z5L2-1) [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
MQQESERCRV RARRPDMALY VPKARRGAVL LKTGDEEESC GSPNSVVKEK
60 70 80 90 100
QKESSLSQKE VFKDKPEARR LNINPDRKEH NCREEKKSST KLRMDTCLQK
110 120 130 140 150
TNRVCSKRGT TESKEVLSQG QQQGAPNAGV ITNAPLQRHF KPKKVECLEV
160 170 180 190 200
ETTDVTGHER ILLSQACLEI SEAQVPSKPF QNVEFCDFSR HEPDGEAFED
210 220 230 240 250
KDLEGRIETD TKVLEILYEF PRVFSSVMKP ENMIVPIKLS SDSEIVQQSM
260 270 280 290 300
QTSDGILNPS SGGITTTSVP GSPDGVFDQT CVDFEVESVG GIANSTGFIL
310 320 330 340 350
DQKDTDSIPA TMGHISLSES TNDTVSPVMI RECEKNDSTA DELHVKHEPP
360 370 380 390 400
DTAVLAHETH RDSGFKNVGD ITNKACMMDT TGMSCSDHVT VDSPYVVAVR
410 420 430 440 450
IADETSINTR SFSKFVGMSA DATPLHVARS GNDTEDFSNP SACSDIYGES
460 470 480 490 500
ISSHFTESTG KLIESLSDCA SSLPIKKIAG SNYNTFLDSE LSMLNGTKVL
510 520 530 540 550
SDSAVGIDLG STGDTTEALH ELRTAEEFKT EEQDDSGSIE FGVSFPDRES
560 570 580 590 600
SSMETSIEPK ATETSHTEGI TAIEESWESM FNDDGDCLDP RLLQEGILMH
610 620 630 640 650
IKPENHCSEL SGNTKSRESI QEPRSDYYNH EVPDIDLSDC EFPHVIEIYD
660 670 680 690 700
FPQEFHTEDL LRVFCSYQKK GFDIKWVDDT HALGVFSSPI TARDALGIKH
710 720 730 740 750
TMVKIRPLSQ ATRAAKAKAR AYAEFLQPAK ERPETSAALA RRLVISALGV
760 770 780 790
RSKQSKTERE AELKKLQEAR ERKRLEAKQR EDIWEGRDQS TV
Length:792
Mass (Da):87,884
Last modified:August 2, 2005 - v2
Checksum:iFE06B6166C856056
GO
Isoform 2 (identifier: Q7Z5L2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     595-608: Missing.

Note: No experimental confirmation available.
Show »
Length:778
Mass (Da):86,294
Checksum:i589AFE95BF9898DA
GO
Isoform 3 (identifier: Q7Z5L2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-608: Missing.
     609-609: E → M

Show »
Length:184
Mass (Da):21,191
Checksum:iCB2D2DB4C017E016
GO

Sequence cautioni

The sequence AAC05748.1 differs from that shown. Reason: Frameshift at position 304. Curated
The sequence BAC04364.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti212 – 2121K → E in AAP80788 (Ref. 1) Curated
Sequence conflicti438 – 4381S → G in AAP80788 (Ref. 1) Curated
Sequence conflicti609 – 6091E → K in AAP80788 (Ref. 1) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti113 – 1131S → P.
Corresponds to variant rs12775148 [ dbSNP | Ensembl ].
VAR_056898
Natural varianti238 – 2381K → N.
Corresponds to variant rs7922159 [ dbSNP | Ensembl ].
VAR_056899
Natural varianti261 – 2611S → G.
Corresponds to variant rs35373035 [ dbSNP | Ensembl ].
VAR_056900
Natural varianti535 – 5351D → A.
Corresponds to variant rs34494334 [ dbSNP | Ensembl ].
VAR_056901
Natural varianti546 – 5461P → S.
Corresponds to variant rs35122894 [ dbSNP | Ensembl ].
VAR_061652
Natural varianti566 – 5661H → R.1 Publication
Corresponds to variant rs11189513 [ dbSNP | Ensembl ].
VAR_023092
Natural varianti656 – 6561H → R.3 Publications
Corresponds to variant rs1952061 [ dbSNP | Ensembl ].
VAR_023093

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 608608Missing in isoform 3. 1 PublicationVSP_014919Add
BLAST
Alternative sequencei595 – 60814Missing in isoform 2. 1 PublicationVSP_014920Add
BLAST
Alternative sequencei609 – 6091E → M in isoform 3. 1 PublicationVSP_014921

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF525304 mRNA. Translation: AAP80788.1.
AL139241 Genomic DNA. Translation: CAH72818.1.
AL139241, AL355301 Genomic DNA. Translation: CAH72820.1.
AL355301, AL139241 Genomic DNA. Translation: CAI16099.1.
BC047908 mRNA. Translation: AAH47908.1.
AF050198 mRNA. Translation: AAC05748.1. Frameshift.
AK094479 mRNA. Translation: BAC04364.1. Different initiation.
CCDSiCCDS31267.1. [Q7Z5L2-2]
CCDS58093.1. [Q7Z5L2-3]
CCDS73178.1. [Q7Z5L2-1]
RefSeqiNP_001243548.1. NM_001256619.1.
NP_001243549.1. NM_001256620.1.
NP_001243550.1. NM_001256621.1.
UniGeneiHs.419800.

Genome annotation databases

EnsembliENST00000298999; ENSP00000298999; ENSG00000166024. [Q7Z5L2-2]
ENST00000314594; ENSP00000314018; ENSG00000166024. [Q7Z5L2-2]
ENST00000370584; ENSP00000359616; ENSG00000166024. [Q7Z5L2-2]
ENST00000370586; ENSP00000359618; ENSG00000166024. [Q7Z5L2-3]
ENST00000613938; ENSP00000479916; ENSG00000166024. [Q7Z5L2-3]
GeneIDi27291.
KEGGihsa:27291.
UCSCiuc009xvx.4. human. [Q7Z5L2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF525304 mRNA. Translation: AAP80788.1.
AL139241 Genomic DNA. Translation: CAH72818.1.
AL139241, AL355301 Genomic DNA. Translation: CAH72820.1.
AL355301, AL139241 Genomic DNA. Translation: CAI16099.1.
BC047908 mRNA. Translation: AAH47908.1.
AF050198 mRNA. Translation: AAC05748.1. Frameshift.
AK094479 mRNA. Translation: BAC04364.1. Different initiation.
CCDSiCCDS31267.1. [Q7Z5L2-2]
CCDS58093.1. [Q7Z5L2-3]
CCDS73178.1. [Q7Z5L2-1]
RefSeqiNP_001243548.1. NM_001256619.1.
NP_001243549.1. NM_001256620.1.
NP_001243550.1. NM_001256621.1.
UniGeneiHs.419800.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118115. 10 interactions.
IntActiQ7Z5L2. 4 interactions.
STRINGi9606.ENSP00000298999.

PTM databases

iPTMnetiQ7Z5L2.
PhosphoSiteiQ7Z5L2.

Polymorphism and mutation databases

BioMutaiR3HCC1L.
DMDMi71648680.

Proteomic databases

EPDiQ7Z5L2.
MaxQBiQ7Z5L2.
PaxDbiQ7Z5L2.
PeptideAtlasiQ7Z5L2.
PRIDEiQ7Z5L2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000298999; ENSP00000298999; ENSG00000166024. [Q7Z5L2-2]
ENST00000314594; ENSP00000314018; ENSG00000166024. [Q7Z5L2-2]
ENST00000370584; ENSP00000359616; ENSG00000166024. [Q7Z5L2-2]
ENST00000370586; ENSP00000359618; ENSG00000166024. [Q7Z5L2-3]
ENST00000613938; ENSP00000479916; ENSG00000166024. [Q7Z5L2-3]
GeneIDi27291.
KEGGihsa:27291.
UCSCiuc009xvx.4. human. [Q7Z5L2-1]

Organism-specific databases

CTDi27291.
GeneCardsiR3HCC1L.
HGNCiHGNC:23512. R3HCC1L.
HPAiHPA037367.
neXtProtiNX_Q7Z5L2.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4483. Eukaryota.
ENOG4110UEV. LUCA.
GeneTreeiENSGT00530000063711.
HOGENOMiHOG000112721.
HOVERGENiHBG057491.
InParanoidiQ7Z5L2.
OrthoDBiEOG741Z3D.
PhylomeDBiQ7Z5L2.
TreeFamiTF324168.

Miscellaneous databases

GenomeRNAii27291.
PROiQ7Z5L2.

Gene expression databases

BgeeiQ7Z5L2.
CleanExiHS_C10orf28.
ExpressionAtlasiQ7Z5L2. baseline and differential.
GenevisibleiQ7Z5L2. HS.

Family and domain databases

Gene3Di3.30.70.330. 1 hit.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and characterization of a novel gene GIDRP88, encoding a growth inhibition and differentiation related protein."
    Yan J., Zhang J., Peng X., Luo D., Deng Y., Bao L., Liu Z., Li B., Gao X.
    Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ARG-656.
  2. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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 [MRNA] (ISOFORM 3), VARIANT ARG-656.
    Tissue: Ovary.
  4. "The development of a genetic profile of placental gene expression during the first trimester of pregnancy: a potential tool for identifying novel secreted markers."
    Page N.M., Butlin D.J., Manyonda I., Lowry P.J.
    Fetal Diagn. Ther. 15:237-245(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-362 (ISOFORM 1).
    Tissue: Placenta.
  5. "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] OF 391-792 (ISOFORM 2), VARIANTS ARG-566 AND ARG-656.
    Tissue: Cerebellum.
  6. "SMG6 interacts with the exon junction complex via two conserved EJC-binding motifs (EBMs) required for nonsense-mediated mRNA decay."
    Kashima I., Jonas S., Jayachandran U., Buchwald G., Conti E., Lupas A.N., Izaurralde E.
    Genes Dev. 24:2440-2450(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH THE EJC COMPLEX, MUTAGENESIS OF 14-ARG--TYR-20.
  7. "Toward a comprehensive characterization of a human cancer cell phosphoproteome."
    Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
    J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-688, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Erythroleukemia.

Entry informationi

Entry nameiR3HCL_HUMAN
AccessioniPrimary (citable) accession number: Q7Z5L2
Secondary accession number(s): O60598
, Q5W0B4, Q5W0B5, Q86VT9, Q8N9H0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 2, 2005
Last sequence update: August 2, 2005
Last modified: July 6, 2016
This is version 98 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 10
    Human chromosome 10: 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

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.