Descriptions

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

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q8IZV5

Entry ID Method Resolution Chain Position Source
AF-Q8IZV5-F1 Predicted AlphaFoldDB

170 variants for Q8IZV5

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1257557137
CA371487544
3 I>F No ClinGen
gnomAD
rs1397684527
CA371487546
3 I>T No ClinGen
gnomAD
CA4782915
rs780951408
4 V>M No ClinGen
ExAC
gnomAD
rs773336664
CA4782918
5 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs769369174
CA4782917
5 V>L No ClinGen
ExAC
gnomAD
rs749230554
CA4782919
6 E>D No ClinGen
ExAC
gnomAD
CA371487562
rs1172340226
6 E>G No ClinGen
gnomAD
TCGA novel 7 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371487583
rs1428738168
9 V>A No ClinGen
gnomAD
CA179316541
rs867212084
CA179316540
9 V>L No ClinGen
TOPMed
gnomAD
CA371487581
rs867212084
9 V>M No ClinGen
TOPMed
gnomAD
CA371487594
rs1270058134
11 T>I No ClinGen
TOPMed
gnomAD
CA371487602
rs774039054
COSM4151870
12 F>L ovary [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs770812328
CA4782920
12 F>S No ClinGen
ExAC
gnomAD
rs759338480
CA4782922
13 K>R No ClinGen
ExAC
gnomAD
rs1347652724
CA371487611
14 V>M No ClinGen
gnomAD
rs1190485689
CA371487648
19 V>L No ClinGen
TOPMed
gnomAD
rs1190485689
CA371487646
19 V>M No ClinGen
TOPMed
gnomAD
CA179316552
rs866198182
21 A>S No ClinGen
Ensembl
CA4782923
rs768766057
21 A>V No ClinGen
ExAC
gnomAD
rs1370557423
CA371487666
22 A>V No ClinGen
gnomAD
rs1021188367
CA179316562
24 R>G No ClinGen
TOPMed
gnomAD
TCGA novel 24 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA179316564
rs541277968
27 V>G No ClinGen
Ensembl
rs533195986
CA4782927
27 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1390959398
CA371487699
28 R>P No ClinGen
TOPMed
CA371487697
rs1174433789
28 R>W No ClinGen
gnomAD
rs1168223467
CA371487706
29 P>L No ClinGen
TOPMed
CA371487711
rs1399017399
30 K>R No ClinGen
gnomAD
CA371487721
rs1346277234
31 E>D No ClinGen
gnomAD
rs559905978
CA179316579
35 A>E No ClinGen
Ensembl
CA371487759
rs1301381317
37 Q>R No ClinGen
gnomAD
CA371487769
rs1586184746
38 V>G No ClinGen
Ensembl
CA371487772
rs1586184747
39 C>G No ClinGen
Ensembl
CA179316587
rs112690392
40 L>F No ClinGen
gnomAD
rs112690392
CA371487779
40 L>V No ClinGen
gnomAD
rs1415742333
CA371487784
41 I>V No ClinGen
TOPMed
TCGA novel 42 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371487807
rs1206589757
44 A>G No ClinGen
TOPMed
CA371487844
rs1224840565
50 R>L No ClinGen
TOPMed
CA4782931
rs755300818
52 F>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 56 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1447105996
CA371487899
59 R>H No ClinGen
gnomAD
CA371487951
rs1379574486
68 I>V No ClinGen
gnomAD
rs1468835590
CA371487967
70 T>A No ClinGen
gnomAD
rs867559240
CA179316650
78 G>D No ClinGen
TOPMed
gnomAD
CA371488028
rs867559240
78 G>V No ClinGen
TOPMed
gnomAD
CA371488045
rs1415500519
81 R>C No ClinGen
TOPMed
rs1402539012
CA371488069
84 Y>C No ClinGen
gnomAD
CA371488073
rs1394484494
85 R>S No ClinGen
gnomAD
CA371488079
rs1250496717
86 D>N No ClinGen
TOPMed
CA4782938
rs771306889
88 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1236379418
CA371488100
89 A>S No ClinGen
gnomAD
CA371488105
rs1278611059
90 A>T No ClinGen
gnomAD
CA371488115
rs1586184864
91 D>A No ClinGen
Ensembl
rs1229701671
CA371488111
91 D>N No ClinGen
gnomAD
rs1586184869
CA371488132
94 A>S No ClinGen
Ensembl
rs1214058857
CA371488140
95 L>P No ClinGen
gnomAD
rs1334637507
CA371488138
95 L>V No ClinGen
TOPMed
rs1230814069
CA371488151
97 A>P No ClinGen
TOPMed
CA371488193
rs1370763586
101 E>G No ClinGen
gnomAD
CA4782958
rs771894802
103 E>A No ClinGen
ExAC
gnomAD
CA4782959
rs771894802
103 E>G No ClinGen
ExAC
gnomAD
CA4782957
rs556672044
103 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA371488218
rs1414872613
105 L>Q No ClinGen
gnomAD
CA371488224
rs1324680102
106 P>H No ClinGen
gnomAD
CA4782962
rs770032148
107 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs770032148
CA4782961
107 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA4782964
rs145171413
108 C>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA371488234
rs145171413
108 C>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774783285
CA4782965
109 N>D No ClinGen
ExAC
gnomAD
CA371488244
rs1279891122
109 N>I No ClinGen
gnomAD
rs760053367
CA4782966
109 N>K No ClinGen
ExAC
gnomAD
rs1279891122
CA371488243
109 N>S No ClinGen
gnomAD
CA4782968
rs776033179
111 Q>P No ClinGen
ExAC
gnomAD
TCGA novel 112 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4782969
rs761056077
113 F>Y No ClinGen
ExAC
gnomAD
CA4782973
rs764773069
124 N>K No ClinGen
ExAC
gnomAD
CA4782975
rs758352706
125 V>I No ClinGen
ExAC
gnomAD
rs1382657995
CA371488372
128 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA371488381
rs1296232402
130 E>K No ClinGen
gnomAD
CA371488401
rs1436935711
132 V>A No ClinGen
TOPMed
gnomAD
CA4782978
rs754709622
133 R>C No ClinGen
ExAC
gnomAD
rs1316129347
CA371488404
133 R>H No ClinGen
TOPMed
rs944302467
CA179318118
135 E>K No ClinGen
TOPMed
CA4782980
rs749516657
136 V>F No ClinGen
ExAC
CA4782981
COSM1101559
rs190882720
138 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1259079034
CA371488463
143 V>I No ClinGen
gnomAD
TCGA novel 144 N>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1586185939
CA371488490
146 A>V No ClinGen
Ensembl
TCGA novel 147 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 150 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1464064107
CA371488676
173 H>N No ClinGen
TOPMed
rs777077714 176 T>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs762042478
CA4783009
183 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1310116206
CA371541154
186 E>A No ClinGen
gnomAD
rs1285293062
CA371541237
198 S>A No ClinGen
gnomAD
rs868576051
CA179648566
198 S>F No ClinGen
Ensembl
rs1213153197
CA371541245
199 L>F No ClinGen
gnomAD
COSM1663878
rs1272790543
CA371541294
207 V>I kidney [Cosmic] No ClinGen
cosmic curated
gnomAD
CA4783034
rs762557242
209 D>H No ClinGen
ExAC
gnomAD
rs1199360293
CA371541359
214 K>E No ClinGen
gnomAD
rs867670086
CA179648761
221 H>Y No ClinGen
Ensembl
TCGA novel 223 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM213004
CA371541456
rs1213492883
228 L>I breast [Cosmic] No ClinGen
cosmic curated
gnomAD
TCGA novel 228 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM290835
CA179648762
rs973578810
229 K>R large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1247354058
CA371541468
230 A>T No ClinGen
gnomAD
rs758906627
CA4783037
231 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA371541478
rs1338693025
231 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA179648763
rs920379933
232 E>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 237 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752567318
CA4783039
241 V>I No ClinGen
ExAC
gnomAD
rs1427297238
CA371541571
245 L>F No ClinGen
TOPMed
gnomAD
rs1399039554
CA371541602
250 M>V No ClinGen
gnomAD
CA4783040
rs760588808
254 C>W No ClinGen
ExAC
gnomAD
rs950256022
CA179648767
255 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA371541645
rs1586197356
256 I>N No ClinGen
Ensembl
CA4783084
rs563952870
258 K>E No ClinGen
1000Genomes
ExAC
gnomAD
CA179648895
rs771788342
260 I>F No ClinGen
gnomAD
rs1368646440
CA371541687
260 I>M No ClinGen
gnomAD
CA179648896
rs1009581987
260 I>T No ClinGen
TOPMed
rs771788342
CA371541684
260 I>V No ClinGen
gnomAD
TCGA novel 262 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs531103692
CA4783085
263 F>L No ClinGen
1000Genomes
ExAC
gnomAD
CA371541716
rs1349973397
265 P>S No ClinGen
gnomAD
TCGA novel 266 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371541782
rs1270578090
274 K>N No ClinGen
gnomAD
rs1333140987
CA371541785
275 Q>E No ClinGen
gnomAD
CA371541786
rs1221366050
275 Q>P No ClinGen
gnomAD
CA179648897
rs1019217425
277 M>V No ClinGen
TOPMed
TCGA novel 281 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371541830
rs1488623669
281 L>P No ClinGen
gnomAD
CA371541856
rs1248929043
285 P>S No ClinGen
gnomAD
rs1210602500
CA371541898
291 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs752747246
CA4783089
291 R>H No ClinGen
ExAC
gnomAD
CA371541910
rs1350655030
293 M>T No ClinGen
gnomAD
CA371541909
rs1163872682
293 M>V No ClinGen
gnomAD
rs1368522051
CA371541920
294 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA371541930
rs756117140
295 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA371541934
rs1369953562
296 V>A No ClinGen
gnomAD
rs74821757
CA4783091
296 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 298 F>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA179648906
rs200175538
302 I>F No ClinGen
Ensembl
TCGA novel 305 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 308 V>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4783107
rs775770627
308 V>I No ClinGen
ExAC
CA4783108
rs760815013
310 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA4783109
rs764131251
311 M>I No ClinGen
ExAC
gnomAD
rs754396419
CA4783110
313 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1228455605
CA371542061
313 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs952815322
CA179648909
322 Y>S No ClinGen
Ensembl
rs867201149
CA179648910
323 P>F No ClinGen
Ensembl
TCGA novel 325 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750758856
CA4783115
327 Q>K No ClinGen
ExAC
gnomAD
CA4783117
rs758733414
328 R>K No ClinGen
ExAC
gnomAD
rs1186493564
CA371542167
328 R>S No ClinGen
gnomAD
CA4783120
rs779629054
329 K>N No ClinGen
ExAC
gnomAD
CA4783122
rs754573984
330 Q>E No ClinGen
ExAC
gnomAD
rs754573984
CA4783121
330 Q>K No ClinGen
ExAC
gnomAD
rs201868320
CA4783123
331 A>D No ClinGen
ExAC
gnomAD
rs1413985262
CA371542199
333 N>K No ClinGen
gnomAD
CA371542207
rs1177423874
334 N>K No ClinGen
gnomAD
rs1361470732
CA371542215
335 N>K No ClinGen
gnomAD
CA371542217
rs1433319993
336 E>K No ClinGen
gnomAD
rs1435292027
CA371542228
337 A>E No ClinGen
gnomAD
CA371542225
rs1366415775
337 A>T No ClinGen
gnomAD
TCGA novel 339 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 339 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4783125
rs777696135
339 N>T No ClinGen
ExAC
gnomAD

No associated diseases with Q8IZV5

1 regional properties for Q8IZV5

Type Name Position InterPro Accession
conserved_site Short-chain dehydrogenase/reductase, conserved site 197 - 225 IPR020904

Functions

Description
EC Number 1.1.1.300 With NAD(+) or NADP(+) as acceptor
Subcellular Localization
  • Microsome membrane ; Single-pass membrane protein
  • Endoplasmic reticulum membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
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.
lipid droplet An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins.

3 GO annotations of molecular function

Name Definition
NAD-retinol dehydrogenase activity Catalysis of the reaction: retinol + NAD+ = retinal + NADH + H+.
NADP-retinol dehydrogenase activity Catalysis of the reaction: all-trans-retinol + NADP+ = all-trans-retinal + NADPH + H+.
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP.

17 GO annotations of biological process

Name Definition
bud elongation involved in lung branching The process in which a bud in the lung grows out from the point where it is formed.
ear development The process whose specific outcome is the progression of the ear over time, from its formation to the mature structure. The ear is the sense organ in vertebrates that is specialized for the detection of sound, and the maintenance of balance. Includes the outer ear and middle ear, which collect and transmit sound waves; and the inner ear, which contains the organs of balance and (except in fish) hearing. Also includes the pinna, the visible part of the outer ear, present in some mammals.
embryonic camera-type eye development The process occurring during the embryonic phase whose specific outcome is the progression of the eye over time, from its formation to the mature structure.
embryonic forelimb morphogenesis The process, occurring in the embryo, by which the anatomical structures of the forelimb are generated and organized. The forelimbs are the front limbs of an animal, e.g. the arms of a human.
embryonic viscerocranium morphogenesis The process in which the anatomical structures of the viscerocranium are generated and organized during the embryonic phase. The viscerocranium is the part of the skull comprising the facial bones.
gonad development The process whose specific outcome is the progression of the gonad over time, from its formation to the mature structure. The gonad is an animal organ that produces gametes; in some species it also produces hormones.
in utero embryonic development The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
metanephros development The process whose specific outcome is the progression of the metanephros over time, from its formation to the mature structure. In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine.
neural crest cell development The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell.
nose development The process whose specific outcome is the progression of the nose over time, from its formation to the mature structure. The nose is the specialized structure of the face that serves as the organ of the sense of smell and as part of the respiratory system. Includes the nasi externus (external nose) and cavitas nasi (nasal cavity).
positive regulation of retinoic acid biosynthetic process Any process that activates or increases the frequency, rate or extent of retinoic acid biosynthetic process.
primary lung bud formation The morphogenetic process in which the foregut region specified to become the lung forms the initial left and right buds.
retinal metabolic process The chemical reactions and pathways involving retinal, a compound that plays an important role in the visual process in most vertebrates. In the retina, retinal combines with opsins to form visual pigments. Retinal is one of the forms of vitamin A.
retinoic acid biosynthetic process The chemical reactions and pathways resulting in the biosynthesis of retinoic acid, one of the three components that makes up vitamin A.
retinoid metabolic process The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity.
retinol metabolic process The chemical reactions and pathways involving retinol, one of the three compounds that makes up vitamin A.
visual perception The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.

8 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8HZT6 RDH10 Retinol dehydrogenase 10 Bos taurus (Bovine) PR
Q8VCR2 Hsd17b13 17-beta-hydroxysteroid dehydrogenase 13 Mus musculus (Mouse) PR
Q05A13 Sdr16c6 Short-chain dehydrogenase/reductase family 16C member 6 Mus musculus (Mouse) PR
Q8VCH7 Rdh10 Retinol dehydrogenase 10 Mus musculus (Mouse) PR
Q80ZF7 Rdh10 Retinol dehydrogenase 10 Rattus norvegicus (Rat) PR
Q5XGF7 rdh10 Retinol dehydrogenase 10 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
A1L1W4 rdh10a Retinol dehydrogenase 10-A Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q7T2D1 rdh10b Retinol dehydrogenase 10-B Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MNIVVEFFVV TFKVLWAFVL AAARWLVRPK EKSVAGQVCL ITGAGSGLGR LFALEFARRR
70 80 90 100 110 120
ALLVLWDINT QSNEETAGMV RHIYRDLEAA DAAALQAGNG EEEILPHCNL QVFTYTCDVG
130 140 150 160 170 180
KRENVYLTAE RVRKEVGEVS VLVNNAGVVS GHHLLECPDE LIERTMMVNC HAHFWTTKAF
190 200 210 220 230 240
LPTMLEINHG HIVTVASSLG LFSTAGVEDY CASKFGVVGF HESLSHELKA AEKDGIKTTL
250 260 270 280 290 300
VCPYLVDTGM FRGCRIRKEI EPFLPPLKPD YCVKQAMKAI LTDQPMICTP RLMYIVTFMK
310 320 330 340
SILPFEAVVC MYRFLGADKC MYPFIAQRKQ ATNNNEAKNG I