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Q9GZT8

- GTPC1_HUMAN

UniProt

Q9GZT8 - GTPC1_HUMAN

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Protein

Putative GTP cyclohydrolase 1 type 2 NIF3L1

Gene
NIF3L1, ALS2CR1, MDS015, My018
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Converts GTP to dihydroneopterin triphosphate By similarity.

Catalytic activityi

GTP + H2O = formate + 2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)-dihydropteridine triphosphate.

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi93 – 931Divalent metal cation 2 By similarity
Metal bindingi131 – 1311Divalent metal cation 1 By similarity
Metal bindingi339 – 3391Divalent metal cation 2 By similarity
Metal bindingi343 – 3431Divalent metal cation 1 By similarity
Metal bindingi343 – 3431Divalent metal cation 2 By similarity

GO - Molecular functioni

  1. GTP binding Source: UniProtKB-KW
  2. GTP cyclohydrolase I activity Source: UniProtKB-EC
  3. metal ion binding Source: UniProtKB-KW
  4. protein binding Source: IntAct
  5. transcription factor binding Source: BHF-UCL

GO - Biological processi

  1. 7,8-dihydroneopterin 3'-triphosphate biosynthetic process Source: UniProtKB-UniPathway
  2. positive regulation of transcription, DNA-templated Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

GTP-binding, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

UniPathwayiUPA00848; UER00151.

Names & Taxonomyi

Protein namesi
Recommended name:
Putative GTP cyclohydrolase 1 type 2 NIF3L1 (EC:3.5.4.16)
Alternative name(s):
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 1 protein
GTP cyclohydrolase I
NIF3-like protein 1
Gene namesi
Name:NIF3L1
Synonyms:ALS2CR1
ORF Names:MDS015, My018
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:13390. NIF3L1.

Subcellular locationi

Cytoplasm 2 Publications

GO - Cellular componenti

  1. cytoplasm Source: BHF-UCL
  2. mitochondrion Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31629.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 377377Putative GTP cyclohydrolase 1 type 2 NIF3L1PRO_0000147353Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei109 – 1091N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ9GZT8.
PaxDbiQ9GZT8.
PRIDEiQ9GZT8.

PTM databases

PhosphoSiteiQ9GZT8.

Expressioni

Gene expression databases

ArrayExpressiQ9GZT8.
BgeeiQ9GZT8.
CleanExiHS_NIF3L1.
GenevestigatoriQ9GZT8.

Organism-specific databases

HPAiHPA036335.

Interactioni

Subunit structurei

Homodimer. Interacts with COPS2 By similarity. Interacts with THOC7.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
BEND7Q8N7W23EBI-740897,EBI-743382
DHPSP493663EBI-740897,EBI-741925
RABAC1Q9UI143EBI-740897,EBI-712367
TRIP13Q156453EBI-740897,EBI-358993

Protein-protein interaction databases

BioGridi121922. 78 interactions.
IntActiQ9GZT8. 39 interactions.
MINTiMINT-1438019.
STRINGi9606.ENSP00000386394.

Structurei

3D structure databases

ProteinModelPortaliQ9GZT8.
SMRiQ9GZT8. Positions 52-377.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0327.
HOGENOMiHOG000014260.
HOVERGENiHBG029337.
InParanoidiQ9GZT8.
OMAiCPHTAVD.
PhylomeDBiQ9GZT8.
TreeFamiTF324125.

Family and domain databases

InterProiIPR002678. GTP_cyclohydrolase_I/Nif3.
IPR017222. GTP_cyclohydrolase_I/NIF3_euk.
[Graphical view]
PANTHERiPTHR13799. PTHR13799. 1 hit.
PfamiPF01784. NIF3. 1 hit.
[Graphical view]
PIRSFiPIRSF037490. UCP037490_NIF3_euk. 1 hit.
SUPFAMiSSF102705. SSF102705. 1 hit.
TIGRFAMsiTIGR00486. YbgI_SA1388. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9GZT8-1) [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

MLSSCVRPVP TTVRFVDSLI CNSSRSFMDL KALLSSLNDF ASLSFAESWD    50
NVGLLVEPSP PHTVNTLFLT NDLTEEVMEE VLQKKADLIL SYHPPIFRPM 100
KRITWNTWKE RLVIRALENR VGIYSPHTAY DAAPQGVNNW LAKGLGACTS 150
RPIHPSKAPN YPTEGNHRVE FNVNYTQDLD KVMSAVKGID GVSVTSFSAR 200
TGNEEQTRIN LNCTQKALMQ VVDFLSRNKQ LYQKTEILSL EKPLLLHTGM 250
GRLCTLDESV SLATMIDRIK RHLKLSHIRL ALGVGRTLES QVKVVALCAG 300
SGSSVLQGVE ADLYLTGEMS HHDTLDAASQ GINVILCEHS NTERGFLSDL 350
RDMLDSHLEN KINIILSETD RDPLQVV 377
Length:377
Mass (Da):41,968
Last modified:November 13, 2007 - v2
Checksum:i41BDCADDD81CA0D8
GO
Isoform 2 (identifier: Q9GZT8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-27: Missing.

Show »
Length:350
Mass (Da):38,984
Checksum:i81F1A5AD35B25ED7
GO
Isoform 3 (identifier: Q9GZT8-3) [UniParc]FASTAAdd to Basket

Also known as: beta

The sequence of this isoform differs from the canonical sequence as follows:
     243-377: PLLLHTGMGR...ETDRDPLQVV → SLKSKSWPCV...MILWMLLPKE

Show »
Length:285
Mass (Da):32,164
Checksum:i5084AD8C6E9700EC
GO

Sequence cautioni

The sequence AAG14952.1 differs from that shown. Reason: Frameshift at positions 104 and 109.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti324 – 3241T → I.
Corresponds to variant rs7917 [ dbSNP | Ensembl ].
VAR_037084

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2727Missing in isoform 2. VSP_029328Add
BLAST
Alternative sequencei243 – 377135PLLLH…PLQVV → SLKSKSWPCVLVLGAAFCRV LRLTFTSQVRCPIMILWMLL PKE in isoform 3. VSP_043248Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti109 – 1091K → E in AAG14952. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF283538 mRNA. Translation: AAG44846.1.
AB038949 mRNA. Translation: BAB32499.1.
AY251943 mRNA. Translation: AAP84063.1.
AF060513 mRNA. Translation: AAG43131.1.
AF182416 mRNA. Translation: AAG14952.1. Frameshift.
AK023378 mRNA. Translation: BAB14551.1.
AC005037 Genomic DNA. Translation: AAY14724.1.
CH471063 Genomic DNA. Translation: EAW70224.1.
BC007654 mRNA. Translation: AAH07654.1.
CCDSiCCDS42797.1. [Q9GZT8-2]
CCDS46485.1. [Q9GZT8-1]
CCDS46486.1. [Q9GZT8-3]
RefSeqiNP_001129511.1. NM_001136039.2. [Q9GZT8-1]
NP_001135827.1. NM_001142355.1. [Q9GZT8-2]
NP_001135828.1. NM_001142356.1. [Q9GZT8-3]
NP_068596.2. NM_021824.3. [Q9GZT8-2]
XP_005246799.1. XM_005246742.2. [Q9GZT8-1]
XP_006712739.1. XM_006712676.1. [Q9GZT8-3]
UniGeneiHs.145284.

Genome annotation databases

EnsembliENST00000359683; ENSP00000352711; ENSG00000196290. [Q9GZT8-2]
ENST00000409020; ENSP00000386394; ENSG00000196290. [Q9GZT8-1]
ENST00000409357; ENSP00000387315; ENSG00000196290. [Q9GZT8-1]
ENST00000409588; ENSP00000387021; ENSG00000196290. [Q9GZT8-3]
ENST00000416651; ENSP00000400787; ENSG00000196290. [Q9GZT8-1]
GeneIDi60491.
KEGGihsa:60491.
UCSCiuc002uwl.2. human. [Q9GZT8-1]
uc002uwq.2. human. [Q9GZT8-3]

Polymorphism databases

DMDMi160112850.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF283538 mRNA. Translation: AAG44846.1 .
AB038949 mRNA. Translation: BAB32499.1 .
AY251943 mRNA. Translation: AAP84063.1 .
AF060513 mRNA. Translation: AAG43131.1 .
AF182416 mRNA. Translation: AAG14952.1 . Frameshift.
AK023378 mRNA. Translation: BAB14551.1 .
AC005037 Genomic DNA. Translation: AAY14724.1 .
CH471063 Genomic DNA. Translation: EAW70224.1 .
BC007654 mRNA. Translation: AAH07654.1 .
CCDSi CCDS42797.1. [Q9GZT8-2 ]
CCDS46485.1. [Q9GZT8-1 ]
CCDS46486.1. [Q9GZT8-3 ]
RefSeqi NP_001129511.1. NM_001136039.2. [Q9GZT8-1 ]
NP_001135827.1. NM_001142355.1. [Q9GZT8-2 ]
NP_001135828.1. NM_001142356.1. [Q9GZT8-3 ]
NP_068596.2. NM_021824.3. [Q9GZT8-2 ]
XP_005246799.1. XM_005246742.2. [Q9GZT8-1 ]
XP_006712739.1. XM_006712676.1. [Q9GZT8-3 ]
UniGenei Hs.145284.

3D structure databases

ProteinModelPortali Q9GZT8.
SMRi Q9GZT8. Positions 52-377.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121922. 78 interactions.
IntActi Q9GZT8. 39 interactions.
MINTi MINT-1438019.
STRINGi 9606.ENSP00000386394.

PTM databases

PhosphoSitei Q9GZT8.

Polymorphism databases

DMDMi 160112850.

Proteomic databases

MaxQBi Q9GZT8.
PaxDbi Q9GZT8.
PRIDEi Q9GZT8.

Protocols and materials databases

DNASUi 60491.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000359683 ; ENSP00000352711 ; ENSG00000196290 . [Q9GZT8-2 ]
ENST00000409020 ; ENSP00000386394 ; ENSG00000196290 . [Q9GZT8-1 ]
ENST00000409357 ; ENSP00000387315 ; ENSG00000196290 . [Q9GZT8-1 ]
ENST00000409588 ; ENSP00000387021 ; ENSG00000196290 . [Q9GZT8-3 ]
ENST00000416651 ; ENSP00000400787 ; ENSG00000196290 . [Q9GZT8-1 ]
GeneIDi 60491.
KEGGi hsa:60491.
UCSCi uc002uwl.2. human. [Q9GZT8-1 ]
uc002uwq.2. human. [Q9GZT8-3 ]

Organism-specific databases

CTDi 60491.
GeneCardsi GC02P201718.
HGNCi HGNC:13390. NIF3L1.
HPAi HPA036335.
MIMi 605778. gene.
neXtProti NX_Q9GZT8.
PharmGKBi PA31629.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0327.
HOGENOMi HOG000014260.
HOVERGENi HBG029337.
InParanoidi Q9GZT8.
OMAi CPHTAVD.
PhylomeDBi Q9GZT8.
TreeFami TF324125.

Enzyme and pathway databases

UniPathwayi UPA00848 ; UER00151 .

Miscellaneous databases

GeneWikii NIF3L1.
GenomeRNAii 60491.
NextBioi 65383.
PROi Q9GZT8.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9GZT8.
Bgeei Q9GZT8.
CleanExi HS_NIF3L1.
Genevestigatori Q9GZT8.

Family and domain databases

InterProi IPR002678. GTP_cyclohydrolase_I/Nif3.
IPR017222. GTP_cyclohydrolase_I/NIF3_euk.
[Graphical view ]
PANTHERi PTHR13799. PTHR13799. 1 hit.
Pfami PF01784. NIF3. 1 hit.
[Graphical view ]
PIRSFi PIRSF037490. UCP037490_NIF3_euk. 1 hit.
SUPFAMi SSF102705. SSF102705. 1 hit.
TIGRFAMsi TIGR00486. YbgI_SA1388. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation and characterization of a novel human gene, NIF3L1, and its mouse ortholog, Nif3l1, highly conserved from bacteria to mammals."
    Tascou S., Uedelhoven J., Dixkens C., Nayernia K., Engel W., Burfeind P.
    Cytogenet. Cell Genet. 90:330-336(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION.
  2. "Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2."
    Hadano S., Yanagisawa Y., Skaug J., Fichter K., Nasir J., Martindale D., Koop B.F., Scherer S.W., Nicholson D.W., Rouleau G.A., Ikeda J.-E., Hayden M.R.
    Genomics 71:200-213(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  3. "NIF3L1 interacts with WBSCR14."
    Merla G., Reymond A.
    Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
  4. Mao Y.M., Xie Y., Huang X.Y., Ying K., Dai J.L.
    Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Fetal brain.
  5. "Novel genes expressed in hematopoietic stem/progenitor cells from myelodysplastic syndrome patients."
    Huang C., Qian B., Tu Y., Gu W., Wang Y., Han Z., Chen Z.
    Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Hematopoietic stem cell.
  6. "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] (ISOFORM 2).
    Tissue: Ovarian carcinoma.
  7. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "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).
    Tissue: Skin.
  10. "Identification and characterization of NIF3L1 BP1, a novel cytoplasmic interaction partner of the NIF3L1 protein."
    Tascou S., Kang T.W., Trappe R., Engel W., Burfeind P.
    Biochem. Biophys. Res. Commun. 309:440-448(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), INTERACTION WITH THOC7, SUBCELLULAR LOCATION.
  11. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-109, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiGTPC1_HUMAN
AccessioniPrimary (citable) accession number: Q9GZT8
Secondary accession number(s): Q53TX4
, Q6X735, Q9H2D2, Q9HC18
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2002
Last sequence update: November 13, 2007
Last modified: July 9, 2014
This is version 123 of the entry and version 2 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 2
    Human chromosome 2: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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