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Protein

Radical S-adenosyl methionine domain-containing protein 1, mitochondrial

Gene

RSAD1

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

Functioni

May be involved in porphyrin cofactor biosynthesis.By similarity

Cofactori

[4Fe-4S] clusterCuratedNote: Binds 1 [4Fe-4S] cluster. The cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine.Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei43S-adenosyl-L-methionine 1By similarity1
Metal bindingi49Iron-sulfur (4Fe-4S-S-AdoMet)Sequence analysis1
Metal bindingi53Iron-sulfur (4Fe-4S-S-AdoMet)Sequence analysis1
Binding sitei55S-adenosyl-L-methionine 2; via carbonyl oxygenBy similarity1
Metal bindingi56Iron-sulfur (4Fe-4S-S-AdoMet)Sequence analysis1
Binding sitei98S-adenosyl-L-methionine 1; via amide nitrogen and carbonyl oxygenBy similarity1
Binding sitei131S-adenosyl-L-methionine 1By similarity1
Binding sitei158S-adenosyl-L-methionine 2By similarity1
Binding sitei170S-adenosyl-L-methionine 2By similarity1
Binding sitei195S-adenosyl-L-methionine 2By similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
Biological processPorphyrin biosynthesis
Ligand4Fe-4S, Iron, Iron-sulfur, Metal-binding, S-adenosyl-L-methionine

Names & Taxonomyi

Protein namesi
Recommended name:
Radical S-adenosyl methionine domain-containing protein 1, mitochondrial (EC:1.3.99.-)
Alternative name(s):
Oxygen-independent coproporphyrinogen-III oxidase-like protein RSAD1
Gene namesi
Name:RSAD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000136444.9
HGNCiHGNC:25634 RSAD1
neXtProtiNX_Q9HA92

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

Mitochondrion

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000136444
PharmGKBiPA134945325

Polymorphism and mutation databases

BioMutaiRSAD1
DMDMi145566941

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 17MitochondrionSequence analysisAdd BLAST17
ChainiPRO_000028460918 – 442Radical S-adenosyl methionine domain-containing protein 1, mitochondrialAdd BLAST425

Proteomic databases

EPDiQ9HA92
MaxQBiQ9HA92
PaxDbiQ9HA92
PeptideAtlasiQ9HA92
PRIDEiQ9HA92
ProteomicsDBi81387

PTM databases

iPTMnetiQ9HA92
PhosphoSitePlusiQ9HA92

Expressioni

Gene expression databases

BgeeiENSG00000136444
CleanExiHS_RSAD1
ExpressionAtlasiQ9HA92 baseline and differential
GenevisibleiQ9HA92 HS

Organism-specific databases

HPAiHPA022436
HPA022967

Interactioni

Protein-protein interaction databases

BioGridi120598, 13 interactors
IntActiQ9HA92, 1 interactor
STRINGi9606.ENSP00000258955

Structurei

3D structure databases

ProteinModelPortaliQ9HA92
SMRiQ9HA92
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni99 – 100S-adenosyl-L-methionine 2 bindingBy similarity2

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi12 – 18Poly-Ala7
Compositional biasi20 – 23Poly-Arg4

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410IF9E Eukaryota
COG0635 LUCA
GeneTreeiENSGT00390000011216
HOGENOMiHOG000015381
HOVERGENiHBG108421
InParanoidiQ9HA92
OMAiSNFARPG
OrthoDBiEOG091G06MW
PhylomeDBiQ9HA92
TreeFamiTF332416

Family and domain databases

Gene3Di3.80.30.20, 1 hit
InterProiView protein in InterPro
IPR034505 Coproporphyrinogen-III_oxidase
IPR006638 Elp3/MiaB/NifB
IPR004559 HemN-like
IPR010723 HemN_C
IPR007197 rSAM
IPR023404 rSAM_horseshoe
PANTHERiPTHR13932 PTHR13932, 1 hit
PfamiView protein in Pfam
PF06969 HemN_C, 1 hit
PF04055 Radical_SAM, 1 hit
SFLDiSFLDG01065 anaerobic_coproporphyrinogen-I, 1 hit
SFLDS00029 Radical_SAM, 1 hit
SMARTiView protein in SMART
SM00729 Elp3, 1 hit
TIGRFAMsiTIGR00539 hemN_rel, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9HA92-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MALPGARARG WAAAARAAQR RRRVENAGGS PSPEPAGRRA ALYVHWPYCE
60 70 80 90 100
KRCSYCNFNK YIPRRLEEAA MQKCLVTEAQ TLLRLSGVQR VESVFFGGGT
110 120 130 140 150
PSLASPHTVA AVLEAVAQAA HLPADLEVTL EANPTSAPGS RLAEFGAAGV
160 170 180 190 200
NRLSIGLQSL DDTELRLLGR THSACDALRT LAEARRLFPG RVSVDLMLGL
210 220 230 240 250
PAQQVGPWLG QLQELLHHCD DHLSLYQLSL ERGTALFAQV QRGALPAPDP
260 270 280 290 300
ELAAEMYQRG RAVLREAGFH QYEVSNFARN GALSTHNWTY WQCGQYLGVG
310 320 330 340 350
PGAHGRFMPQ GAGGHTREAR IQTLEPDNWM KEVMLFGHGT RKRVPLGRLE
360 370 380 390 400
LLEEVLALGL RTDVGITHQH WQQFEPQLTL WDVFGANKEV QELLERGLLQ
410 420 430 440
LDHRGLRCSW EGLAVLDSLL LTLLPQLQEA WQQRTPSPVP GG
Length:442
Mass (Da):48,714
Last modified:April 17, 2007 - v2
Checksum:iA450E02F3AE2D554
GO
Isoform 2 (identifier: Q9HA92-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     46-158: Missing.
     282-307: ALSTHNWTYWQCGQYLGVGPGAHGRF → PMDDLCPRGLEATPGRLGSRHWSLTT
     308-441: Missing.

Note: No experimental confirmation available.
Show »
Length:195
Mass (Da):21,317
Checksum:iC0A73AD8C1CC9EC3
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti186R → G in BAB13962 (PubMed:14702039).Curated1
Sequence conflicti213Q → R in BAD96192 (Ref. 2) Curated1
Sequence conflicti272Y → C in BAB13962 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031777119A → T1 PublicationCorresponds to variant dbSNP:rs2290862Ensembl.1
Natural variantiVAR_031778126L → S1 PublicationCorresponds to variant dbSNP:rs2290861Ensembl.1
Natural variantiVAR_061126354E → Q. Corresponds to variant dbSNP:rs9891176Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05613046 – 158Missing in isoform 2. 1 PublicationAdd BLAST113
Alternative sequenceiVSP_056131282 – 307ALSTH…AHGRF → PMDDLCPRGLEATPGRLGSR HWSLTT in isoform 2. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_056132308 – 441Missing in isoform 2. 1 PublicationAdd BLAST134

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK002026 mRNA Translation: BAA92043.1
AK022105 mRNA Translation: BAB13962.1
AK297655 mRNA Translation: BAG60022.1
AK222472 mRNA Translation: BAD96192.1
AC021491 Genomic DNA No translation available.
BC005854 mRNA Translation: AAH05854.4
BC050538 mRNA Translation: AAH50538.1
CCDSiCCDS11569.1 [Q9HA92-1]
RefSeqiNP_060816.1, NM_018346.2 [Q9HA92-1]
UniGeneiHs.8033

Genome annotation databases

EnsembliENST00000258955; ENSP00000258955; ENSG00000136444 [Q9HA92-1]
ENST00000515221; ENSP00000424558; ENSG00000136444 [Q9HA92-2]
GeneIDi55316
KEGGihsa:55316
UCSCiuc002iqw.2 human [Q9HA92-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRSAD1_HUMAN
AccessioniPrimary (citable) accession number: Q9HA92
Secondary accession number(s): B4DMW0
, Q53HV8, Q86VC4, Q9BRY7, Q9NUS7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 17, 2007
Last modified: June 20, 2018
This is version 118 of the entry and version 2 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

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