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Q5VT66

- MARC1_HUMAN

UniProt

Q5VT66 - MARC1_HUMAN

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Protein
Mitochondrial amidoxime-reducing component 1
Gene
MARC1, MOSC1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

As a component of an N-hydroxylated prodrug-converting complex required to reduce N-hydroxylated prodrugs, such as benzamidoxime. Also able to reduce N(omega)-hydroxy-L-arginine (NOHA) and N(omega)-hydroxy-N(delta)-methyl-L-arginine (NHAM) into L-arginine and N(delta)-methyl-L-arginine, respectively.1 Publication

Cofactori

Binds 1 molybdenum-molybdopterin (Mo-MPT) cofactor per subunit.

Kineticsi

  1. KM=180 µM for benzamidoxime2 Publications
  2. KM=86 µM for NOHA
  3. KM=272 µM for NHAM

Vmax=34 nmol/min/mg enzyme toward benzamidoxime (1 Publication

)

Vmax=105 nmol/min/mg enzyme toward benzamidoxime (1 Publication

, at pH 6.0 and 37 degrees Celsius)

Vmax=55 nmol/min/mg enzyme toward NOHA

Vmax=43 nmol/min/mg enzyme toward NHAM

GO - Molecular functioni

  1. molybdenum ion binding Source: UniProtKB
  2. molybdopterin cofactor binding Source: UniProtKB
  3. nitrate reductase activity Source: UniProtKB
  4. pyridoxal phosphate binding Source: InterPro
Complete GO annotation...

GO - Biological processi

  1. detoxification of nitrogen compound Source: UniProtKB
  2. nitrate metabolic process Source: UniProtKB
  3. oxidation-reduction process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

Molybdenum

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial amidoxime-reducing component 1 (EC:1.-.-.-)
Short name:
mARC1
Alternative name(s):
Molybdenum cofactor sulfurase C-terminal domain-containing protein 1
Short name:
MOSC domain-containing protein 1
Short name:
Moco sulfurase C-terminal domain-containing protein 1
Gene namesi
Name:MARC1
Synonyms:MOSC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:26189. MARC1.

Subcellular locationi

Mitochondrion outer membrane; Single-pass type II membrane protein
Note: Mitochondrial import is mediated by AA 1-40 and requires ATP.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2020Mitochondrial matrix1 Publication
Add
BLAST
Transmembranei21 – 4020Helical; Signal-anchor for type II membrane protein; Reviewed prediction
Add
BLAST
Topological domaini41 – 337297Cytoplasmic1 Publication
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial inner membrane Source: Ensembl
  3. mitochondrial outer membrane Source: UniProtKB-SubCell
  4. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671344.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 337337Mitochondrial amidoxime-reducing component 1
PRO_0000273335Add
BLAST

Proteomic databases

MaxQBiQ5VT66.
PaxDbiQ5VT66.
PRIDEiQ5VT66.

PTM databases

PhosphoSiteiQ5VT66.

Expressioni

Gene expression databases

BgeeiQ5VT66.
CleanExiHS_MOSC1.
GenevestigatoriQ5VT66.

Organism-specific databases

HPAiHPA028702.

Interactioni

Subunit structurei

Component of a complex composed of cytochrome b5, NADH-cytochrome b5 reductase and MARC1.

Protein-protein interaction databases

BioGridi122271. 13 interactions.
STRINGi9606.ENSP00000355877.

Structurei

3D structure databases

ProteinModelPortaliQ5VT66.
SMRiQ5VT66. Positions 58-188.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini187 – 335149MOSC
Add
BLAST

Sequence similaritiesi

Contains 1 MOSC domain.

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG3217.
HOVERGENiHBG081982.
InParanoidiQ5VT66.
OMAiHKCRVHG.
OrthoDBiEOG7WT41P.
PhylomeDBiQ5VT66.
TreeFamiTF316807.

Family and domain databases

InterProiIPR005302. MoCF_Sase_C.
IPR005303. MOSC_N.
IPR011037. Pyrv_Knase-like_insert_dom.
[Graphical view]
PfamiPF03473. MOSC. 1 hit.
PF03476. MOSC_N. 1 hit.
[Graphical view]
SUPFAMiSSF50800. SSF50800. 2 hits.
PROSITEiPS51340. MOSC. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q5VT66-1) [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

MGAAGSSALA RFVLLAQSRP GWLGVAALGL TAVALGAVAW RRAWPTRRRR    50
LLQQVGTVAQ LWIYPVKSCK GVPVSEAECT AMGLRSGNLR DRFWLVINQE 100
GNMVTARQEP RLVLISLTCD GDTLTLSAAY TKDLLLPIKT PTTNAVHKCR 150
VHGLEIEGRD CGEATAQWIT SFLKSQPYRL VHFEPHMRPR RPHQIADLFR 200
PKDQIAYSDT SPFLILSEAS LADLNSRLEK KVKATNFRPN IVISGCDVYA 250
EDSWDELLIG DVELKRVMAC SRCILTTVDP DTGVMSRKEP LETLKSYRQC 300
DPSERKLYGK SPLFGQYFVL ENPGTIKVGD PVYLLGQ 337
Length:337
Mass (Da):37,499
Last modified:December 7, 2004 - v1
Checksum:iF983AB08F3D646C4
GO
Isoform 2 (identifier: Q5VT66-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     251-251: E → EVTLCPFGSFLGFDFFFK

Note: No experimental confirmation available.

Show »
Length:354
Mass (Da):39,454
Checksum:iCC368AD4B543AD51
GO
Isoform 3 (identifier: Q5VT66-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-102: Missing.
     251-251: E → EVTLCPFGSFLGFDFFFK

Note: No experimental confirmation available.

Show »
Length:252
Mass (Da):28,439
Checksum:i0FEF88317AF6C9D2
GO

Sequence cautioni

The sequence BAB15333.1 differs from that shown. Reason: Frameshift at position 139.
The sequence CAH72118.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151L → H.1 Publication
VAR_062273
Natural varianti96 – 961V → L Common polymorphism in Caucasian population; no effect on binding of the molybdenum cofactor; no significant effect on catalytic efficiency toward benzamidoxime; no significant effect on affinity for benzamidoxime. 2 Publications
Corresponds to variant rs12023067 [ dbSNP | Ensembl ].
VAR_056941
Natural varianti165 – 1651T → A No effect on binding of the molybdenum cofactor; no significant effect on catalytic efficiency toward benzamidoxime; no significant effect on affinity for benzamidoxime. 5 Publications
Corresponds to variant rs2642438 [ dbSNP | Ensembl ].
VAR_030129
Natural varianti187 – 1871M → K No effect on binding of the molybdenum cofactor; no significant effect on catalytic efficiency toward benzamidoxime; no significant effect on affinity for benzamidoxime. 2 Publications
Corresponds to variant rs17850677 [ dbSNP | Ensembl ].
VAR_030130
Natural varianti246 – 2461C → S No effect on binding of the molybdenum cofactor; no significant effect on catalytic efficiency toward benzamidoxime; no significant effect on affinity for benzamidoxime. 2 Publications
Corresponds to variant rs3738178 [ dbSNP | Ensembl ].
VAR_030131
Natural varianti247 – 2471D → H No effect on binding of the molybdenum cofactor; no significant effect on catalytic efficiency toward benzamidoxime; no significant effect on affinity for benzamidoxime. 2 Publications
Corresponds to variant rs72470601 [ dbSNP | Ensembl ].
VAR_062274
Natural varianti268 – 2681M → I No effect on binding of the molybdenum cofactor; no significant effect on catalytic efficiency toward benzamidoxime; no significant effect on affinity for benzamidoxime. 1 Publication
Corresponds to variant rs2642419 [ dbSNP | Ensembl ].
VAR_030132

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 102102Missing in isoform 3.
VSP_022511Add
BLAST
Alternative sequencei251 – 2511E → EVTLCPFGSFLGFDFFFK in isoform 2 and isoform 3.
VSP_022512

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK026043 mRNA. Translation: BAB15333.1. Frameshift.
AK094105 mRNA. Translation: BAC04286.1.
AK290812 mRNA. Translation: BAF83501.1.
EU563849 Genomic DNA. Translation: ACB21046.1.
AL606726, AL445423 Genomic DNA. Translation: CAH71881.1.
AL445423 Genomic DNA. Translation: CAH72116.1.
AL445423 Genomic DNA. Translation: CAH72118.1. Sequence problems.
AL445423, AL606726 Genomic DNA. Translation: CAH72119.1.
CH471100 Genomic DNA. Translation: EAW93291.1.
BC010619 mRNA. Translation: AAH10619.1.
CCDSiCCDS1526.1. [Q5VT66-1]
RefSeqiNP_073583.3. NM_022746.3. [Q5VT66-1]
UniGeneiHs.497816.

Genome annotation databases

EnsembliENST00000366910; ENSP00000355877; ENSG00000186205. [Q5VT66-1]
GeneIDi64757.
KEGGihsa:64757.
UCSCiuc001hms.3. human. [Q5VT66-1]
uc001hmt.3. human. [Q5VT66-2]

Polymorphism databases

DMDMi74746896.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK026043 mRNA. Translation: BAB15333.1 . Frameshift.
AK094105 mRNA. Translation: BAC04286.1 .
AK290812 mRNA. Translation: BAF83501.1 .
EU563849 Genomic DNA. Translation: ACB21046.1 .
AL606726 , AL445423 Genomic DNA. Translation: CAH71881.1 .
AL445423 Genomic DNA. Translation: CAH72116.1 .
AL445423 Genomic DNA. Translation: CAH72118.1 . Sequence problems.
AL445423 , AL606726 Genomic DNA. Translation: CAH72119.1 .
CH471100 Genomic DNA. Translation: EAW93291.1 .
BC010619 mRNA. Translation: AAH10619.1 .
CCDSi CCDS1526.1. [Q5VT66-1 ]
RefSeqi NP_073583.3. NM_022746.3. [Q5VT66-1 ]
UniGenei Hs.497816.

3D structure databases

ProteinModelPortali Q5VT66.
SMRi Q5VT66. Positions 58-188.
ModBasei Search...

Protein-protein interaction databases

BioGridi 122271. 13 interactions.
STRINGi 9606.ENSP00000355877.

PTM databases

PhosphoSitei Q5VT66.

Polymorphism databases

DMDMi 74746896.

Proteomic databases

MaxQBi Q5VT66.
PaxDbi Q5VT66.
PRIDEi Q5VT66.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000366910 ; ENSP00000355877 ; ENSG00000186205 . [Q5VT66-1 ]
GeneIDi 64757.
KEGGi hsa:64757.
UCSCi uc001hms.3. human. [Q5VT66-1 ]
uc001hmt.3. human. [Q5VT66-2 ]

Organism-specific databases

CTDi 64757.
GeneCardsi GC01P220961.
H-InvDB HIX0001608.
HGNCi HGNC:26189. MARC1.
HPAi HPA028702.
MIMi 614126. gene.
neXtProti NX_Q5VT66.
PharmGKBi PA142671344.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG3217.
HOVERGENi HBG081982.
InParanoidi Q5VT66.
OMAi HKCRVHG.
OrthoDBi EOG7WT41P.
PhylomeDBi Q5VT66.
TreeFami TF316807.

Miscellaneous databases

GenomeRNAii 64757.
NextBioi 66731.
PROi Q5VT66.
SOURCEi Search...

Gene expression databases

Bgeei Q5VT66.
CleanExi HS_MOSC1.
Genevestigatori Q5VT66.

Family and domain databases

InterProi IPR005302. MoCF_Sase_C.
IPR005303. MOSC_N.
IPR011037. Pyrv_Knase-like_insert_dom.
[Graphical view ]
Pfami PF03473. MOSC. 1 hit.
PF03476. MOSC_N. 1 hit.
[Graphical view ]
SUPFAMi SSF50800. SSF50800. 2 hits.
PROSITEi PS51340. MOSC. 1 hit.
[Graphical view ]
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] (ISOFORMS 1 AND 3), VARIANT ALA-165.
    Tissue: Adrenal gland and Kidney.
  2. NIEHS SNPs program
    Submitted (MAR-2008) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS HIS-15; LEU-96; ALA-165; SER-246 AND HIS-247.
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORMS 1 AND 2).
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-165.
  5. "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] (ISOFORM 1), VARIANTS ALA-165 AND LYS-187.
    Tissue: Eye.
  6. "The fourth molybdenum containing enzyme mARC: cloning and involvement in the activation of N-hydroxylated prodrugs."
    Gruenewald S., Wahl B., Bittner F., Hungeling H., Kanzow S., Kotthaus J., Schwering U., Mendel R.R., Clement B.
    J. Med. Chem. 51:8173-8177(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, COFACTOR.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Reduction of N(omega)-hydroxy-L-arginine by the mitochondrial amidoxime reducing component (mARC)."
    Kotthaus J., Wahl B., Havemeyer A., Kotthaus J., Schade D., Garbe-Schonberg D., Mendel R., Bittner F., Clement B.
    Biochem. J. 433:383-391(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: BIOPHYSICOCHEMICAL PROPERTIES.
  9. "The mitochondrial amidoxime-reducing component (mARC1) is a novel signal-anchored protein of the outer mitochondrial membrane."
    Klein J.M., Busch J.D., Potting C., Baker M.J., Langer T., Schwarz G.
    J. Biol. Chem. 287:42795-42803(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TOPOLOGY.
  10. "Functional characterization of protein variants encoded by non-synonymous SNPs in MARC1 and MARC2 in healthy Caucasians."
    Ott G., Reichmann D., Boerger C., Cascorbi I., Bittner F., Mendel R.R., Kunze T., Clement B., Havemeyer A.
    Drug Metab. Dispos. 42:718-725(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALA-165; LYS-187; SER-246 AND HIS-247, CHARACTERIZATION OF VARIANTS LEU-96; ALA-165; LYS-187; SER-246; HIS-247 AND ILE-268, BIOPHYSICOCHEMICAL PROPERTIES, COFACTOR.

Entry informationi

Entry nameiMARC1_HUMAN
AccessioniPrimary (citable) accession number: Q5VT66
Secondary accession number(s): A8K447
, B2D078, Q5VVS9, Q5VVT0, Q5VVT1, Q8N9P5, Q96FN8, Q9H6C7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: December 7, 2004
Last modified: September 3, 2014
This is version 84 of the entry and version 1 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 1
    Human chromosome 1: 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

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