Q6NQK9

PR
Gene name
CCB4
Protein name
Protein COFACTOR ASSEMBLY OF COMPLEX C SUBUNIT B CCB4, chloroplastic
Names
Species
Arabidopsis thaliana (Mouse-ear cress)
KEGG Pathway
ath:AT1G59840
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

6-75 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q6NQK9

Entry ID Method Resolution Chain Position Source
AF-Q6NQK9-F1 Predicted AlphaFoldDB

52 variants for Q6NQK9

Variant ID(s) Position Change Description Diseaes Association Provenance
ENSVATH05003528 4 R>S No 1000Genomes
ENSVATH00106618 15 S>N No 1000Genomes
ENSVATH01405630 16 A>P No 1000Genomes
ENSVATH05003529 16 A>V No 1000Genomes
ENSVATH13653594 18 R>P No 1000Genomes
ENSVATH05003530 18 R>S No 1000Genomes
ENSVATH05003531 19 Q>K No 1000Genomes
ENSVATH05003534 20 F>C No 1000Genomes
ENSVATH05003533 20 F>L No 1000Genomes
ENSVATH01405631 22 H>N No 1000Genomes
ENSVATH01405632 22 H>R No 1000Genomes
ENSVATH01405631 22 H>Y No 1000Genomes
tmp_1_22026644_G_C 26 D>H No 1000Genomes
ENSVATH01405633 27 F>L No 1000Genomes
tmp_1_22026666_C_T 33 A>V No 1000Genomes
tmp_1_22026675_C_T 36 S>F No 1000Genomes
ENSVATH13653595 37 S>T No 1000Genomes
ENSVATH01405638 43 K>R No 1000Genomes
ENSVATH01405639 44 T>S No 1000Genomes
ENSVATH00106621 46 E>A No 1000Genomes
ENSVATH00106621 46 E>G No 1000Genomes
ENSVATH01405640 46 E>K No 1000Genomes
ENSVATH00106622 51 R>S No 1000Genomes
ENSVATH05003545 53 N>T No 1000Genomes
ENSVATH01405642 61 K>Q No 1000Genomes
ENSVATH05003547 61 K>R No 1000Genomes
ENSVATH13653597 87 V>I No 1000Genomes
tmp_1_22026938_C_T 94 A>V No 1000Genomes
ENSVATH01405645 95 D>N No 1000Genomes
tmp_1_22027184_G_A 111 A>T No 1000Genomes
ENSVATH01405661 133 N>T No 1000Genomes
ENSVATH01405663 135 K>E No 1000Genomes
ENSVATH05003556 142 V>L No 1000Genomes
tmp_1_22027503_A_T 159 E>V No 1000Genomes
ENSVATH01405677 172 I>V No 1000Genomes
ENSVATH13653635 178 C>Y No 1000Genomes
tmp_1_22027590_C_A 188 S>Y No 1000Genomes
ENSVATH01405681 189 P>L No 1000Genomes
ENSVATH01405680 189 P>S No 1000Genomes
ENSVATH01405683 194 T>A No 1000Genomes
ENSVATH01405684 194 T>R No 1000Genomes
ENSVATH01405686 196 I>T No 1000Genomes
ENSVATH01405685 196 I>V No 1000Genomes
ENSVATH01405687 198 K>N No 1000Genomes
ENSVATH01405689 200 D>H No 1000Genomes
ENSVATH01405689 200 D>N No 1000Genomes
tmp_1_22027644_C_T 206 S>L No 1000Genomes
ENSVATH13653636 214 S>F No 1000Genomes
ENSVATH05003558 229 R>K No 1000Genomes
tmp_1_22027827_C_G 240 Q>E No 1000Genomes
ENSVATH05003563 258 N>S No 1000Genomes
tmp_1_22028146_C_T 289 S>F No 1000Genomes

1 associated diseases with Q6NQK9

[MIM: 614205]: 3M syndrome 3 (3M3)

A disorder characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels. {ECO:0000269|PubMed:21737058, ECO:0000269|PubMed:23018678}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A disorder characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels. {ECO:0000269|PubMed:21737058, ECO:0000269|PubMed:23018678}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q6NQK9

Type Name Position InterPro Accession
repeat Pentatricopeptide repeat 314 - 338 IPR002885-1
repeat Pentatricopeptide repeat 347 - 381 IPR002885-2

Functions

Description
EC Number
Subcellular Localization
  • Plastid, chloroplast thylakoid membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
chloroplast A chlorophyll-containing plastid with thylakoids organized into grana and frets, or stroma thylakoids, and embedded in a stroma.
chloroplast thylakoid membrane The pigmented membrane of a chloroplast thylakoid. An example of this component is found in Arabidopsis thaliana.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name Definition
cytochrome b6f complex assembly Formation of cytochrome b6f complex, a complex that transfers electrons from reduced plastoquinone to oxidized plastocyanin and translocates protons from the stroma to the lumen, by the aggregation, arrangement and bonding together of its constituents.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MEARIILLRI QIPWSANRQF SHPPLDFPRF IRASSSSTSQ KPKTYEGPKP RKNLVADFIS
70 80 90 100 110 120
KNDDLVRSLP IYVGGASLLA VLFNRTVSGI APVADASSSQ SRADLLALGL AVTNLLTGLV
130 140 150 160 170 180
WLSIRPKSIT PVNPKGVECK VVESDLPASM VSELLWAWES LKVATCCKSL VIVYNGICLI
190 200 210 220 230 240
QIGMVAESPE DKKTVIVKTD KLMQGSVYRG VMKSKAQSYL ANLSLYPGRS ELPFLPANTQ
250 260 270 280 290
AVILQPLGDK GIAVIGGNTI RGFTSSDQAW ISSIGEKLDA TLGRYFVDSD EISRVTV