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Protein

Short-chain dehydrogenase/reductase family 9C member 7

Gene

SDR9C7

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

Functioni

Displays weak conversion of all-trans-retinal to all-trans-retinol in the presence of NADH. Has apparently no steroid dehydrogenase activity.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei160SubstrateBy similarity1
Active sitei172Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi29 – 53NADPBy similarityAdd BLAST25

GO - Molecular functioni

  • retinol dehydrogenase activity Source: UniProtKB

GO - Biological processi

  • oxidation-reduction process Source: UniProtKB

Keywordsi

Molecular functionOxidoreductase
LigandNADP

Enzyme and pathway databases

ReactomeiR-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)

Names & Taxonomyi

Protein namesi
Recommended name:
Short-chain dehydrogenase/reductase family 9C member 7 (EC:1.1.1.-)
Alternative name(s):
Orphan short-chain dehydrogenase/reductase
Short name:
SDR-O
RDH-S
Gene namesi
Name:SDR9C7
Synonyms:RDHS, SDRO
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000170426.1
HGNCiHGNC:29958 SDR9C7
MIMi609769 gene
neXtProtiNX_Q8NEX9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Ichthyosis, congenital, autosomal recessive 13 (ARCI13)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.
See also OMIM:617574
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07929272R → W in ARCI13; decreased protein abundance. 1 PublicationCorresponds to variant dbSNP:rs530109812EnsemblClinVar.1
Natural variantiVAR_079293200I → T in ARCI13; decreased protein abundance. 1 PublicationCorresponds to variant dbSNP:rs770729222EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

DisGeNETi121214
MalaCardsiSDR9C7
MIMi617574 phenotype
OpenTargetsiENSG00000170426
PharmGKBiPA164725648

Polymorphism and mutation databases

BioMutaiSDR9C7
DMDMi74751264

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003168851 – 313Short-chain dehydrogenase/reductase family 9C member 7Add BLAST313

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei185PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8NEX9
PeptideAtlasiQ8NEX9
PRIDEiQ8NEX9

PTM databases

iPTMnetiQ8NEX9
PhosphoSitePlusiQ8NEX9

Expressioni

Tissue specificityi

Expressed in the skin (PubMed:28173123). Expressed in granular and cornified layers of the epidermis (at protein level) (PubMed:28173123). Highly expressed in liver (PubMed:12234675).1 Publication

Gene expression databases

BgeeiENSG00000170426
GenevisibleiQ8NEX9 HS

Organism-specific databases

HPAiHPA039059

Interactioni

Protein-protein interaction databases

BioGridi125711, 18 interactors
STRINGi9606.ENSP00000293502

Structurei

3D structure databases

ProteinModelPortaliQ8NEX9
SMRiQ8NEX9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1610 Eukaryota
ENOG410Y7FK LUCA
GeneTreeiENSGT00910000144025
InParanoidiQ8NEX9
OMAiNCNLVGN
OrthoDBiEOG091G0LMI
PhylomeDBiQ8NEX9
TreeFamiTF325617

Family and domain databases

InterProiView protein in InterPro
IPR036291 NAD(P)-bd_dom_sf
IPR020904 Sc_DH/Rdtase_CS
IPR032968 SDR_9C7
IPR002347 SDR_fam
PANTHERiPTHR43313:SF5 PTHR43313:SF5, 1 hit
PfamiView protein in Pfam
PF00106 adh_short, 1 hit
PRINTSiPR00081 GDHRDH
PR00080 SDRFAMILY
SUPFAMiSSF51735 SSF51735, 1 hit
PROSITEiView protein in PROSITE
PS00061 ADH_SHORT, 1 hit

Sequencei

Sequence statusi: Complete.

Q8NEX9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAALTDLSFM YRWFKNCNLV GNLSEKYVFI TGCDSGFGNL LAKQLVDRGM
60 70 80 90 100
QVLAACFTEE GSQKLQRDTS YRLQTTLLDV TKSESIKAAA QWVRDKVGEQ
110 120 130 140 150
GLWALVNNAG VGLPSGPNEW LTKDDFVKVI NVNLVGLIEV TLHMLPMVKR
160 170 180 190 200
ARGRVVNMSS SGGRVAVIGG GYCVSKFGVE AFSDSIRREL YYFGVKVCII
210 220 230 240 250
EPGNYRTAIL GKENLESRMR KLWERLPQET RDSYGEDYFR IYTDKLKNIM
260 270 280 290 300
QVAEPRVRDV INSMEHAIVS RSPRIRYNPG LDAKLLYIPL AKLPTPVTDF
310
ILSRYLPRPA DSV
Length:313
Mass (Da):35,263
Last modified:October 1, 2002 - v1
Checksum:iC60949797F23D05E
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07929272R → W in ARCI13; decreased protein abundance. 1 PublicationCorresponds to variant dbSNP:rs530109812EnsemblClinVar.1
Natural variantiVAR_079293200I → T in ARCI13; decreased protein abundance. 1 PublicationCorresponds to variant dbSNP:rs770729222EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY044434 mRNA Translation: AAK95856.1
AK122782 mRNA Translation: BAG53726.1
CH471054 Genomic DNA Translation: EAW96967.1
BC101551 mRNA Translation: AAI01552.1
BC101553 mRNA Translation: AAI01554.1
CCDSiCCDS8926.1
RefSeqiNP_683695.1, NM_148897.2
UniGeneiHs.380178

Genome annotation databases

EnsembliENST00000293502; ENSP00000293502; ENSG00000170426
GeneIDi121214
KEGGihsa:121214
UCSCiuc010sqw.2 human

Similar proteinsi

Entry informationi

Entry nameiDR9C7_HUMAN
AccessioniPrimary (citable) accession number: Q8NEX9
Secondary accession number(s): B3KVB4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: October 1, 2002
Last modified: May 23, 2018
This is version 128 of the entry and version 1 of the sequence. See 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 12
    Human chromosome 12: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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