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Protein

Short-chain dehydrogenase/reductase family 9C member 7

Gene

SDR9C7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 acceptor1

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.

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 Publication1
Natural variantiVAR_079293200I → T in ARCI13; decreased protein abundance. 1 Publication1

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

DisGeNETi121214.
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.
GeneTreeiENSGT00900000140775.
InParanoidiQ8NEX9.
OMAiANPNIGW.
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 Publication1
Natural variantiVAR_079293200I → T in ARCI13; decreased protein abundance. 1 Publication1

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: November 22, 2017
This is version 124 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