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Protein

Dynein regulatory complex subunit 7

Gene

DRC7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Key component of the nexin-dynein regulatory complex (N-DRC), essential for N-DRC integrity. Involved in the regulation of flagellar motility.By similarity

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein regulatory complex subunit 7
Alternative name(s):
Coiled-coil domain-containing protein 135
Coiled-coil domain-containing protein lobo homolog
Gene namesi
Name:DRC7
Synonyms:C16orf50, CCDC135
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:25289. DRC7.

Subcellular locationi

  • Cell projectionciliumflagellum By similarity
  • Cytoplasmcytoskeletoncilium axoneme By similarity

  • Note: Associated with the outer doublet microtubules (OD).By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Flagellum

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000159625.
PharmGKBiPA162381380.

Polymorphism and mutation databases

BioMutaiCCDC135.
DMDMi317373462.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002794341 – 874Dynein regulatory complex subunit 7Add BLAST874

Proteomic databases

PaxDbiQ8IY82.
PeptideAtlasiQ8IY82.
PRIDEiQ8IY82.

PTM databases

iPTMnetiQ8IY82.
PhosphoSitePlusiQ8IY82.

Expressioni

Gene expression databases

BgeeiENSG00000159625.
CleanExiHS_CCDC135.
ExpressionAtlasiQ8IY82. baseline and differential.
GenevisibleiQ8IY82. HS.

Organism-specific databases

HPAiHPA041521.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
MBIPQ9NS73-53EBI-10262896,EBI-10182361

Protein-protein interaction databases

BioGridi123962. 2 interactors.
IntActiQ8IY82. 3 interactors.
MINTiMINT-4712863.
STRINGi9606.ENSP00000353942.

Structurei

3D structure databases

ProteinModelPortaliQ8IY82.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1 – 67Sequence analysisAdd BLAST67
Coiled coili257 – 297Sequence analysisAdd BLAST41
Coiled coili688 – 711Sequence analysisAdd BLAST24
Coiled coili781 – 807Sequence analysisAdd BLAST27

Sequence similaritiesi

Belongs to the DRC7 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IERK. Eukaryota.
ENOG410XS7V. LUCA.
GeneTreeiENSGT00390000004913.
HOGENOMiHOG000007476.
HOVERGENiHBG107597.
InParanoidiQ8IY82.
OMAiKMMRPVE.
OrthoDBiEOG091G0C1W.
PhylomeDBiQ8IY82.
TreeFamiTF323665.

Family and domain databases

InterProiIPR033551. DRC7/lobo.
[Graphical view]
PANTHERiPTHR35249:SF1. PTHR35249:SF1. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IY82-1) [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
MEVLREKVEE EEEAEREEAA EWAEWARMEK MMRPVEVRKE EITLKQETLR
60 70 80 90 100
DLEKKLSEIQ ITVSAELPAF TKDTIDISKL PISYKTNTPK EEHLLQVADN
110 120 130 140 150
FSRQYSHLCP DRVPLFLHPL NECEVPKFVS TTLRPTLMPY PELYNWDSCA
160 170 180 190 200
QFVSDFLTMV PLPDPLKPPS HLYSSTTVLK YQKGNCFDFS TLLCSMLIGS
210 220 230 240 250
GYDAYCVNGY GSLDLCHMDL TREVCPLTVK PKETIKKEEK VLPKKYTIKP
260 270 280 290 300
PRDLCSRFEQ EQEVKKQQEI RAQEKKRLRE EEERLMEAEK AKPDALHGLR
310 320 330 340 350
VHSWVLVLSG KREVPENFFI DPFTGHSYST QDEHFLGIES LWNHKNYWIN
360 370 380 390 400
MQDCWNCCKD LIFDLGDPVR WEYMLLGTDK SQLSLTEEDD SGINDEDDVE
410 420 430 440 450
NLGKEDEDKS FDMPHSWVEQ IEISPEAFET RCPNGKKVIQ YKRAKLEKWA
460 470 480 490 500
PYLNSNGLVS RLTTYEDLQC TNILEIKEWY QNREDMLELK HINKTTDLKT
510 520 530 540 550
DYFKPGHPQA LRVHSYKSMQ PEMDRVIEFY ETARVDGLMK REETPRTMTE
560 570 580 590 600
YYQGRPDFLS YRHASFGPRV KKLTLSSAES NPRPIVKITE RFFRNPAKPA
610 620 630 640 650
EEDVAERVFL VAEERIQLRY HCREDHITAS KREFLRRTEV DSKGNKIIMT
660 670 680 690 700
PDMCISFEVE PMEHTKKLLY QYEAMMHLKR EEKLSRHQVW ESELEVLEIL
710 720 730 740 750
KLREEEEAAH TLTISIYDTK RNEKSKEYRE AMERMMHEEH LRQVETQLDY
760 770 780 790 800
LAPFLAQLPP GEKLTCWQAV RLKDECLSDF KQRLINKANL IQARFEKETQ
810 820 830 840 850
ELQKKQQWYQ ENQVTLTPED EDLYLSYCSQ AMFRIRILEQ RLNRHKELAP
860 870
LKYLALEEKL YKDPRLGELQ KIFA
Length:874
Mass (Da):103,497
Last modified:January 11, 2011 - v3
Checksum:i14838304EFD10EC5
GO
Isoform 2 (identifier: Q8IY82-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     169-233: Missing.

Show »
Length:809
Mass (Da):96,300
Checksum:i7A13193C1538EC7A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti440Q → R in BAC04026 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06158051D → N.Corresponds to variant rs55645458dbSNPEnsembl.1
Natural variantiVAR_050738120L → M.Corresponds to variant rs11649000dbSNPEnsembl.1
Natural variantiVAR_030898186C → S.1 PublicationCorresponds to variant rs7196016dbSNPEnsembl.1
Natural variantiVAR_061581241V → E.Corresponds to variant rs58373934dbSNPEnsembl.1
Natural variantiVAR_030899433P → L.1 PublicationCorresponds to variant rs3809611dbSNPEnsembl.1
Natural variantiVAR_055286521P → H.1 PublicationCorresponds to variant rs17853687dbSNPEnsembl.1
Natural variantiVAR_030900581N → K.Corresponds to variant rs2923144dbSNPEnsembl.1
Natural variantiVAR_030901766C → R.1 PublicationCorresponds to variant rs2923147dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_023438169 – 233Missing in isoform 2. 1 PublicationAdd BLAST65

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK093035 mRNA. Translation: BAC04026.1.
AK292558 mRNA. Translation: BAF85247.1.
AC018552 Genomic DNA. No translation available.
BC036667 mRNA. Translation: AAH36667.1.
AL136907 mRNA. Translation: CAB66841.2.
CCDSiCCDS10787.1. [Q8IY82-1]
CCDS73894.1. [Q8IY82-2]
RefSeqiNP_001276091.1. NM_001289162.1. [Q8IY82-1]
NP_001276092.1. NM_001289163.1. [Q8IY82-2]
NP_115645.4. NM_032269.5. [Q8IY82-1]
XP_011521680.1. XM_011523378.1. [Q8IY82-2]
UniGeneiHs.513635.

Genome annotation databases

EnsembliENST00000336825; ENSP00000338938; ENSG00000159625. [Q8IY82-2]
ENST00000360716; ENSP00000353942; ENSG00000159625. [Q8IY82-1]
ENST00000394337; ENSP00000377869; ENSG00000159625. [Q8IY82-1]
GeneIDi84229.
KEGGihsa:84229.
UCSCiuc002emi.4. human. [Q8IY82-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK093035 mRNA. Translation: BAC04026.1.
AK292558 mRNA. Translation: BAF85247.1.
AC018552 Genomic DNA. No translation available.
BC036667 mRNA. Translation: AAH36667.1.
AL136907 mRNA. Translation: CAB66841.2.
CCDSiCCDS10787.1. [Q8IY82-1]
CCDS73894.1. [Q8IY82-2]
RefSeqiNP_001276091.1. NM_001289162.1. [Q8IY82-1]
NP_001276092.1. NM_001289163.1. [Q8IY82-2]
NP_115645.4. NM_032269.5. [Q8IY82-1]
XP_011521680.1. XM_011523378.1. [Q8IY82-2]
UniGeneiHs.513635.

3D structure databases

ProteinModelPortaliQ8IY82.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123962. 2 interactors.
IntActiQ8IY82. 3 interactors.
MINTiMINT-4712863.
STRINGi9606.ENSP00000353942.

PTM databases

iPTMnetiQ8IY82.
PhosphoSitePlusiQ8IY82.

Polymorphism and mutation databases

BioMutaiCCDC135.
DMDMi317373462.

Proteomic databases

PaxDbiQ8IY82.
PeptideAtlasiQ8IY82.
PRIDEiQ8IY82.

Protocols and materials databases

DNASUi84229.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000336825; ENSP00000338938; ENSG00000159625. [Q8IY82-2]
ENST00000360716; ENSP00000353942; ENSG00000159625. [Q8IY82-1]
ENST00000394337; ENSP00000377869; ENSG00000159625. [Q8IY82-1]
GeneIDi84229.
KEGGihsa:84229.
UCSCiuc002emi.4. human. [Q8IY82-1]

Organism-specific databases

CTDi84229.
GeneCardsiDRC7.
HGNCiHGNC:25289. DRC7.
HPAiHPA041521.
neXtProtiNX_Q8IY82.
OpenTargetsiENSG00000159625.
PharmGKBiPA162381380.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IERK. Eukaryota.
ENOG410XS7V. LUCA.
GeneTreeiENSGT00390000004913.
HOGENOMiHOG000007476.
HOVERGENiHBG107597.
InParanoidiQ8IY82.
OMAiKMMRPVE.
OrthoDBiEOG091G0C1W.
PhylomeDBiQ8IY82.
TreeFamiTF323665.

Miscellaneous databases

GeneWikiiCoiled-coil_domain-containing_protein_135.
GenomeRNAii84229.
PROiQ8IY82.

Gene expression databases

BgeeiENSG00000159625.
CleanExiHS_CCDC135.
ExpressionAtlasiQ8IY82. baseline and differential.
GenevisibleiQ8IY82. HS.

Family and domain databases

InterProiIPR033551. DRC7/lobo.
[Graphical view]
PANTHERiPTHR35249:SF1. PTHR35249:SF1. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiDRC7_HUMAN
AccessioniPrimary (citable) accession number: Q8IY82
Secondary accession number(s): A8K943, Q8NAA0, Q9H080
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: January 11, 2011
Last modified: November 30, 2016
This is version 106 of the entry and version 3 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 16
    Human chromosome 16: 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.