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Q96NR8

- RDH12_HUMAN

UniProt

Q96NR8 - RDH12_HUMAN

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Protein

Retinol dehydrogenase 12

Gene

RDH12

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

Functioni

Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei175 – 1751SubstrateBy similarity
Active sitei200 – 2001Proton acceptorBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi46 – 527NADPBy similarity

GO - Molecular functioni

  1. retinol dehydrogenase activity Source: UniProtKB

GO - Biological processi

  1. photoreceptor cell maintenance Source: UniProtKB
  2. phototransduction, visible light Source: Reactome
  3. retinoid metabolic process Source: Reactome
  4. retinol metabolic process Source: UniProtKB
  5. visual perception Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Sensory transduction, Vision

Keywords - Ligandi

NADP

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000139988-MONOMER.
BRENDAi1.1.1.105. 2681.
ReactomeiREACT_160156. The canonical retinoid cycle in rods (twilight vision).

Names & Taxonomyi

Protein namesi
Recommended name:
Retinol dehydrogenase 12 (EC:1.1.1.-)
Alternative name(s):
All-trans and 9-cis retinol dehydrogenase
Gene namesi
Name:RDH12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:19977. RDH12.

Subcellular locationi

GO - Cellular componenti

  1. intracellular Source: UniProtKB
  2. photoreceptor inner segment membrane Source: Reactome
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Leber congenital amaurosis 13 (LCA13) [MIM:612712]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti49 – 491T → M in LCA13; aberrant activity in interconverting isomers of retinol and retinal; there is differing activity profiles associated with each of the alleles of the R-161-Q polymorphism; genetic background may act as a modifier of mutation effect. 1 Publication
Corresponds to variant rs28940314 [ dbSNP | Ensembl ].
VAR_020858
Natural varianti51 – 511I → N in LCA13. 1 Publication
VAR_020859
Natural varianti79 – 791A → V Found in a patient with LCA13. 1 Publication
VAR_067193
Natural varianti99 – 991L → I in LCA13; exhibits a profound loss of catalytic activity. 2 Publications
Corresponds to variant rs28940315 [ dbSNP | Ensembl ].
VAR_020860
Natural varianti151 – 1511H → D in LCA13; exhibits a profound loss of catalytic activity. 2 Publications
VAR_020861
Natural varianti151 – 1511H → N in LCA13. 1 Publication
VAR_020862
Natural varianti175 – 1751S → P in LCA13. 1 Publication
VAR_020863
Natural varianti226 – 2261Y → C in LCA13; diminished activity in interconverting isomers of retinol and retinal. 1 Publication
Corresponds to variant rs28940313 [ dbSNP | Ensembl ].
VAR_020864
Natural varianti230 – 2301P → A in LCA13. 1 Publication
VAR_020865
Retinitis pigmentosa 53 (RP53) [MIM:612712]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti76 – 761G → R in RP53. 1 Publication
VAR_064166
Natural varianti126 – 1261A → V in RP53. 1 Publication
VAR_064169

Keywords - Diseasei

Disease mutation, Leber congenital amaurosis, Retinitis pigmentosa

Organism-specific databases

MIMi612712. phenotype.
Orphaneti65. Leber congenital amaurosis.
791. Retinitis pigmentosa.
PharmGKBiPA134864793.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 316316Retinol dehydrogenase 12PRO_0000054766Add
BLAST

Proteomic databases

MaxQBiQ96NR8.
PaxDbiQ96NR8.
PRIDEiQ96NR8.

PTM databases

PhosphoSiteiQ96NR8.

Expressioni

Tissue specificityi

Widely expressed, mostly in eye, kidney, brain, skeletal muscle and stomach.

Gene expression databases

BgeeiQ96NR8.
CleanExiHS_RDH12.
GenevestigatoriQ96NR8.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
UBCP0CG482EBI-3916363,EBI-3390054

Protein-protein interaction databases

BioGridi126895. 19 interactions.
IntActiQ96NR8. 4 interactions.
MINTiMINT-3056571.
STRINGi9606.ENSP00000267502.

Structurei

3D structure databases

ProteinModelPortaliQ96NR8.
SMRiQ96NR8. Positions 33-310.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG1028.
GeneTreeiENSGT00760000119068.
HOVERGENiHBG078800.
InParanoidiQ96NR8.
KOiK11153.
OMAiIAPSIRK.
OrthoDBiEOG73Z2TK.
PhylomeDBiQ96NR8.
TreeFamiTF105429.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PRINTSiPR00081. GDHRDH.
PR00080. SDRFAMILY.

Sequencei

Sequence statusi: Complete.

Q96NR8-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MLVTLGLLTS FFSFLYMVAP SIRKFFAGGV CRTNVQLPGK VVVITGANTG
60 70 80 90 100
IGKETARELA SRGARVYIAC RDVLKGESAA SEIRVDTKNS QVLVRKLDLS
110 120 130 140 150
DTKSIRAFAE GFLAEEKQLH ILINNAGVMM CPYSKTADGF ETHLGVNHLG
160 170 180 190 200
HFLLTYLLLE RLKVSAPARV VNVSSVAHHI GKIPFHDLQS EKRYSRGFAY
210 220 230 240 250
CHSKLANVLF TRELAKRLQG TGVTTYAVHP GVVRSELVRH SSLLCLLWRL
260 270 280 290 300
FSPFVKTARE GAQTSLHCAL AEGLEPLSGK YFSDCKRTWV SPRARNNKTA
310
ERLWNVSCEL LGIRWE
Length:316
Mass (Da):35,094
Last modified:October 17, 2006 - v3
Checksum:iEA0915E1E484879B
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471A → T in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
VAR_064163
Natural varianti49 – 491T → M in LCA13; aberrant activity in interconverting isomers of retinol and retinal; there is differing activity profiles associated with each of the alleles of the R-161-Q polymorphism; genetic background may act as a modifier of mutation effect. 1 Publication
Corresponds to variant rs28940314 [ dbSNP | Ensembl ].
VAR_020858
Natural varianti51 – 511I → N in LCA13. 1 Publication
VAR_020859
Natural varianti55 – 551T → M in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
VAR_064164
Natural varianti65 – 651R → Q.1 Publication
VAR_064165
Natural varianti76 – 761G → R in RP53. 1 Publication
VAR_064166
Natural varianti79 – 791A → V Found in a patient with LCA13. 1 Publication
VAR_067193
Natural varianti99 – 991L → I in LCA13; exhibits a profound loss of catalytic activity. 2 Publications
Corresponds to variant rs28940315 [ dbSNP | Ensembl ].
VAR_020860
Natural varianti101 – 1011D → N.1 Publication
VAR_064167
Natural varianti125 – 1251N → K in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
VAR_064168
Natural varianti126 – 1261A → V in RP53. 1 Publication
VAR_064169
Natural varianti145 – 1451G → E in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
VAR_064170
Natural varianti151 – 1511H → D in LCA13; exhibits a profound loss of catalytic activity. 2 Publications
VAR_020861
Natural varianti151 – 1511H → N in LCA13. 1 Publication
VAR_020862
Natural varianti155 – 1551T → I in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
VAR_064171
Natural varianti161 – 1611R → Q.3 Publications
Corresponds to variant rs17852293 [ dbSNP | Ensembl ].
VAR_028281
Natural varianti175 – 1751S → P in LCA13. 1 Publication
VAR_020863
Natural varianti193 – 1931R → C in retinal dystrophy; unknown pathological significance. 1 Publication
VAR_064172
Natural varianti206 – 2061A → D in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
VAR_064173
Natural varianti206 – 2061A → V in retinal dystrophy; unknown pathological significance. 1 Publication
VAR_064174
Natural varianti226 – 2261Y → C in LCA13; diminished activity in interconverting isomers of retinol and retinal. 1 Publication
Corresponds to variant rs28940313 [ dbSNP | Ensembl ].
VAR_020864
Natural varianti230 – 2301P → A in LCA13. 1 Publication
VAR_020865
Natural varianti230 – 2301P → L in retinal dystrophy; unknown pathological significance. 1 Publication
VAR_064175
Natural varianti234 – 2341R → H in retinal dystrophy; unknown pathological significance; exhibits a loss of catalytic activity. 1 Publication
VAR_064176
Natural varianti239 – 2391R → W in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
VAR_064177
Natural varianti274 – 2741L → P in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
VAR_064178
Natural varianti285 – 2851C → Y in retinal dystrophy; exhibits a profound loss of catalytic activity. 1 Publication
VAR_064179

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK054835 mRNA. Translation: BAB70811.1.
AK315462 mRNA. Translation: BAG37849.1.
AL049779 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW80951.1.
BC025724 mRNA. Translation: AAH25724.1.
CCDSiCCDS9787.1.
RefSeqiNP_689656.2. NM_152443.2.
UniGeneiHs.415322.

Genome annotation databases

EnsembliENST00000267502; ENSP00000267502; ENSG00000139988.
ENST00000551171; ENSP00000449079; ENSG00000139988.
GeneIDi145226.
KEGGihsa:145226.
UCSCiuc001xjz.4. human.

Polymorphism databases

DMDMi116242750.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK054835 mRNA. Translation: BAB70811.1 .
AK315462 mRNA. Translation: BAG37849.1 .
AL049779 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW80951.1 .
BC025724 mRNA. Translation: AAH25724.1 .
CCDSi CCDS9787.1.
RefSeqi NP_689656.2. NM_152443.2.
UniGenei Hs.415322.

3D structure databases

ProteinModelPortali Q96NR8.
SMRi Q96NR8. Positions 33-310.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126895. 19 interactions.
IntActi Q96NR8. 4 interactions.
MINTi MINT-3056571.
STRINGi 9606.ENSP00000267502.

Chemistry

DrugBanki DB00162. Vitamin A.

PTM databases

PhosphoSitei Q96NR8.

Polymorphism databases

DMDMi 116242750.

Proteomic databases

MaxQBi Q96NR8.
PaxDbi Q96NR8.
PRIDEi Q96NR8.

Protocols and materials databases

DNASUi 145226.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000267502 ; ENSP00000267502 ; ENSG00000139988 .
ENST00000551171 ; ENSP00000449079 ; ENSG00000139988 .
GeneIDi 145226.
KEGGi hsa:145226.
UCSCi uc001xjz.4. human.

Organism-specific databases

CTDi 145226.
GeneCardsi GC14P068168.
GeneReviewsi RDH12.
HGNCi HGNC:19977. RDH12.
MIMi 608830. gene.
612712. phenotype.
neXtProti NX_Q96NR8.
Orphaneti 65. Leber congenital amaurosis.
791. Retinitis pigmentosa.
PharmGKBi PA134864793.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1028.
GeneTreei ENSGT00760000119068.
HOVERGENi HBG078800.
InParanoidi Q96NR8.
KOi K11153.
OMAi IAPSIRK.
OrthoDBi EOG73Z2TK.
PhylomeDBi Q96NR8.
TreeFami TF105429.

Enzyme and pathway databases

BioCyci MetaCyc:ENSG00000139988-MONOMER.
BRENDAi 1.1.1.105. 2681.
Reactomei REACT_160156. The canonical retinoid cycle in rods (twilight vision).

Miscellaneous databases

GeneWikii RDH12.
GenomeRNAii 145226.
NextBioi 85049.
PROi Q96NR8.
SOURCEi Search...

Gene expression databases

Bgeei Q96NR8.
CleanExi HS_RDH12.
Genevestigatori Q96NR8.

Family and domain databases

Gene3Di 3.40.50.720. 1 hit.
InterProi IPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
[Graphical view ]
Pfami PF00106. adh_short. 1 hit.
[Graphical view ]
PRINTSi PR00081. GDHRDH.
PR00080. SDRFAMILY.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-161.
    Tissue: Cerebellum and Kidney.
  2. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  5. "Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina."
    Haeseleer F., Jang G.-F., Imanishi Y., Driessen C.A.G.G., Matsumura M., Nelson P.S., Palczewski K.
    J. Biol. Chem. 277:45537-45546(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  6. Cited for: VARIANTS LCA13 ASN-51; ILE-99; ASN-151; ASP-151; PRO-175 AND ALA-230.
  7. "Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy."
    Janecke A.R., Thompson D.A., Utermann G., Becker C., Huebner C.A., Schmid E., McHenry C.L., Nair A.R., Rueschendorf F., Heckenlively J., Wissinger B., Nuernberg P., Gal A.
    Nat. Genet. 36:850-854(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LCA13 MET-49 AND CYS-226.
  8. Cited for: VARIANTS RETINAL DYSTROPHY THR-47; MET-55; ILE-99; LYS-125; GLU-145; ASP-151; ILE-155; CYS-193; ASP-206; VAL-206; LEU-230; HIS-234; TRP-239; PRO-274 AND TYR-285, VARIANTS GLN-65; ASN-101; GLN-161 AND CYS-193, CHARACTERIZATION OF VARIANTS RETINAL DYSTROPHY THR-47; MET-55; ILE-99; LYS-125; GLU-145; ASP-151; ILE-155; CYS-193; ASP-206; VAL-206; LEU-230; HIS-234; TRP-239; PRO-274 AND TYR-285, CHARACTERIZATION OF VARIANT GLN-161.
  9. "Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping."
    Benayoun L., Spiegel R., Auslender N., Abbasi A.H., Rizel L., Hujeirat Y., Salama I., Garzozi H.J., Allon-Shalev S., Ben-Yosef T.
    Am. J. Med. Genet. A 149:650-656(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP53 VAL-126.
  10. "Molecular characterization of retinitis pigmentosa in Saudi Arabia."
    Aldahmesh M.A., Safieh L.A., Alkuraya H., Al-Rajhi A., Shamseldin H., Hashem M., Alzahrani F., Khan A.O., Alqahtani F., Rahbeeni Z., Alowain M., Khalak H., Al-Hazzaa S., Meyer B.F., Alkuraya F.S.
    Mol. Vis. 15:2464-2469(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP53 ARG-76.
  11. "Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis."
    Li L., Xiao X., Li S., Jia X., Wang P., Guo X., Jiao X., Zhang Q., Hejtmancik J.F.
    PLoS ONE 6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS VAL-79 AND GLN-161.

Entry informationi

Entry nameiRDH12_HUMAN
AccessioniPrimary (citable) accession number: Q96NR8
Secondary accession number(s): B2RDA2, Q8TAW6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: October 17, 2006
Last modified: October 29, 2014
This is version 121 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 14
    Human chromosome 14: 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

External Data

Dasty 3