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P55316

- FOXG1_HUMAN

UniProt

P55316 - FOXG1_HUMAN

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Protein

Forkhead box protein G1

Gene

FOXG1

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

Functioni

Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi181 – 27595Fork-headPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: ProtInc
  2. sequence-specific DNA binding Source: InterPro
  3. sequence-specific DNA binding transcription factor activity Source: InterPro

GO - Biological processi

  1. aging Source: Ensembl
  2. axon midline choice point recognition Source: Ensembl
  3. brain development Source: ProtInc
  4. dorsal/ventral pattern formation Source: Ensembl
  5. inner ear morphogenesis Source: Ensembl
  6. negative regulation of neuron differentiation Source: Ensembl
  7. negative regulation of transcription, DNA-templated Source: UniProtKB
  8. neuron fate determination Source: Ensembl
  9. positive regulation of cell cycle Source: Ensembl
  10. positive regulation of neuroblast proliferation Source: Ensembl
  11. pyramidal neuron migration Source: Ensembl
  12. regulation of mitotic cell cycle Source: Ensembl
  13. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Forkhead box protein G1
Alternative name(s):
Brain factor 1
Short name:
BF-1
Short name:
BF1
Brain factor 2
Short name:
BF-2
Short name:
BF2
Short name:
hBF-2
Forkhead box protein G1A
Forkhead box protein G1B
Forkhead box protein G1C
Forkhead-related protein FKHL1
Short name:
HFK1
Forkhead-related protein FKHL2
Short name:
HFK2
Forkhead-related protein FKHL3
Short name:
HFK3
Gene namesi
Name:FOXG1
Synonyms:FKH2, FKHL1, FKHL2, FKHL3, FKHL4, FOXG1A, FOXG1B, FOXG1C
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:3811. FOXG1.

Subcellular locationi

Nucleus 1 PublicationPROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Rett syndrome congenital variant (RTTCV) [MIM:613454]: A severe neurodevelopmental disorder with features of classic Rett syndrome but earlier onset in the first months of life. Clinical features include progressive microcephaly, hypotonia, irresponsiveness and irritability in the neonatal period, mental retardation, psychomotor regression and stereotypical movements.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti215 – 2151F → L in RTTCV. 1 Publication
VAR_063885
Natural varianti244 – 2441R → C in RTTCV; the mutant protein extensively, although not fully, localizes in nuclear speckles, while the wild-type is more widely dispersed throughout the nucleus. 1 Publication
VAR_064396

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi388 – 3892VP → AA: Abolishes interaction with KDM5B. 1 Publication
Mutagenesisi394 – 3952VP → AA: Abolishes interaction with KDM5B. 1 Publication
Mutagenesisi404 – 4041P → A: Abolishes interaction with KDM5B. 1 Publication

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MIMi613454. phenotype.
Orphaneti261229. 14q11.2 microduplication syndrome.
261144. 14q12 microdeletion syndrome.
3095. Atypical Rett syndrome.
PharmGKBiPA162388806.
PA28228.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 489489Forkhead box protein G1PRO_0000091835Add
BLAST

Proteomic databases

PaxDbiP55316.
PRIDEiP55316.

PTM databases

PhosphoSiteiP55316.

Expressioni

Tissue specificityi

Expression is restricted to the neurons of the developing telencephalon.1 Publication

Gene expression databases

BgeeiP55316.
CleanExiHS_FOXG1.
GenevestigatoriP55316.

Interactioni

Subunit structurei

Interacts with KDM5B.1 Publication

Protein-protein interaction databases

BioGridi108580. 10 interactions.
IntActiP55316. 2 interactions.
MINTiMINT-1407364.
STRINGi9606.ENSP00000339004.

Structurei

3D structure databases

ProteinModelPortaliP55316.
SMRiP55316. Positions 181-269.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni383 – 40624Interaction with KDM5BAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi33 – 5725His-richAdd
BLAST
Compositional biasi58 – 11255Pro-richAdd
BLAST
Compositional biasi118 – 17760Gly-richAdd
BLAST

Sequence similaritiesi

Contains 1 fork-head DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG5025.
GeneTreeiENSGT00760000118794.
HOGENOMiHOG000112629.
HOVERGENiHBG051645.
InParanoidiP55316.
KOiK09385.
OMAiHPMSYST.
OrthoDBiEOG7N37DT.
PhylomeDBiP55316.
TreeFamiTF316127.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00250. Fork_head. 1 hit.
[Graphical view]
PRINTSiPR00053. FORKHEAD.
SMARTiSM00339. FH. 1 hit.
[Graphical view]
PROSITEiPS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P55316-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MLDMGDRKEV KMIPKSSFSI NSLVPEAVQN DNHHASHGHH NSHHPQHHHH
60 70 80 90 100
HHHHHHHPPP PAPQPPPPPQ QQQPPPPPPP APQPPQTRGA PAADDDKGPQ
110 120 130 140 150
QLLLPPPPPP PPAAALDGAK ADGLGGKGEP GGGPGELAPV GPDEKEKGAG
160 170 180 190 200
AGGEEKKGAG EGGKDGEGGK EGEKKNGKYE KPPFSYNALI MMAIRQSPEK
210 220 230 240 250
RLTLNGIYEF IMKNFPYYRE NKQGWQNSIR HNLSLNKCFV KVPRHYDDPG
260 270 280 290 300
KGNYWMLDPS SDDVFIGGTT GKLRRRSTTS RAKLAFKRGA RLTSTGLTFM
310 320 330 340 350
DRAGSLYWPM SPFLSLHHPR ASSTLSYNGT TSAYPSHPMP YSSVLTQNSL
360 370 380 390 400
GNNHSFSTAN GLSVDRLVNG EIPYATHHLT AAALAASVPC GLSVPCSGTY
410 420 430 440 450
SLNPCSVNLL AGQTSYFFPH VPHPSMTSQS STSMSARAAS SSTSPQAPST
460 470 480
LPCESLRPSL PSFTTGLSGG LSDYFTHQNQ GSSSNPLIH
Length:489
Mass (Da):52,352
Last modified:July 10, 2007 - v2
Checksum:i897945F9CE4F2A71
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti27 – 282AV → GL in CAA52239. (PubMed:7959731)Curated
Sequence conflicti27 – 282AV → GL in CAA52240. (PubMed:7959731)Curated
Sequence conflicti27 – 282AV → GL in CAA55038. (PubMed:7599184)Curated
Sequence conflicti69 – 757PQQQQPP → RAAQQQQ in CAA52239. (PubMed:7959731)Curated
Sequence conflicti79 – 13860PPAPQ…PGELA → RRGARRRRRRGPSSCCSAAH AHGAPEGQRQLAQGDRRGRG IC in CAA52240. (PubMed:7959731)CuratedAdd
BLAST
Sequence conflicti79 – 13860PPAPQ…PGELA → RRGARRRRRRGPSSCCSAAH AHGAPEGQRQLAQGDRRGRG IC in CAA55038. (PubMed:7599184)CuratedAdd
BLAST
Sequence conflicti81 – 9616APQPP…AADDD → LAPQAGGAAQSNDE in CAA52239. (PubMed:7959731)CuratedAdd
BLAST
Sequence conflicti101 – 1011Q → L in CAA52239. (PubMed:7959731)Curated
Sequence conflicti107 – 11711PPPPPPAAALD → TDHHRPPS in CAA52239. (PubMed:7959731)CuratedAdd
BLAST
Sequence conflicti122 – 13312DGLGG…EPGGG → GGCCR in CAA52239. (PubMed:7959731)CuratedAdd
BLAST
Sequence conflicti122 – 1221D → V in AAH50072. (PubMed:15489334)Curated
Sequence conflicti138 – 1381A → G in CAA52239. (PubMed:7959731)Curated
Sequence conflicti148 – 1503GAG → AR in CAA52240. (PubMed:7959731)Curated
Sequence conflicti148 – 1503GAG → AR in CAA55038. (PubMed:7599184)Curated
Sequence conflicti183 – 1831P → PP in CAA52241. (PubMed:7959731)Curated
Sequence conflicti194 – 1941I → M in CAA52240. (PubMed:7959731)Curated
Sequence conflicti194 – 1941I → M in CAA55038. (PubMed:7599184)Curated
Sequence conflicti226 – 2261Q → H in CAA52241. (PubMed:7959731)Curated
Sequence conflicti231 – 2311H → D in CAA52241. (PubMed:7959731)Curated
Sequence conflicti237 – 2371K → M in AAH50072. (PubMed:15489334)Curated
Sequence conflicti274 – 2741Missing in CAA52240. (PubMed:7959731)Curated
Sequence conflicti274 – 2741Missing in CAA55038. (PubMed:7599184)Curated
Sequence conflicti276 – 2761Missing in CAA52240. (PubMed:7959731)Curated
Sequence conflicti276 – 2761Missing in CAA55038. (PubMed:7599184)Curated
Sequence conflicti281 – 2811R → P in CAA52239. (PubMed:7959731)Curated
Sequence conflicti281 – 2811R → P in CAA52240. (PubMed:7959731)Curated
Sequence conflicti281 – 2811R → P in CAA55038. (PubMed:7599184)Curated
Sequence conflicti284 – 2841L → P in CAA52240. (PubMed:7959731)Curated
Sequence conflicti284 – 2841L → P in CAA55038. (PubMed:7599184)Curated
Sequence conflicti286 – 2916FKRGAR → AFRWCA in CAA52241. (PubMed:7959731)Curated
Sequence conflicti291 – 2911R → A in CAA52239. (PubMed:7959731)Curated
Sequence conflicti291 – 2911R → A in CAA52240. (PubMed:7959731)Curated
Sequence conflicti291 – 2911R → A in CAA55038. (PubMed:7599184)Curated
Sequence conflicti302 – 32019RAGSL…LHHPR → APAPSTGPCRPSCPCTTP in CAA52240. (PubMed:7959731)CuratedAdd
BLAST
Sequence conflicti302 – 32019RAGSL…LHHPR → APAPSTGPCRPSCPCTTP in CAA55038. (PubMed:7599184)CuratedAdd
BLAST
Sequence conflicti356 – 3561F → S in CAA52240. (PubMed:7959731)Curated
Sequence conflicti356 – 3561F → S in CAA55038. (PubMed:7599184)Curated
Sequence conflicti371 – 3711E → G in CAA52240. (PubMed:7959731)Curated
Sequence conflicti371 – 3711E → G in CAA55038. (PubMed:7599184)Curated
Sequence conflicti385 – 3851A → T in CAA52240. (PubMed:7959731)Curated
Sequence conflicti385 – 3851A → T in CAA55038. (PubMed:7599184)Curated
Sequence conflicti393 – 3931S → L in CAA52240. (PubMed:7959731)Curated
Sequence conflicti393 – 3931S → L in CAA55038. (PubMed:7599184)Curated
Sequence conflicti439 – 4391A → T in AAH50072. (PubMed:15489334)Curated
Sequence conflicti446 – 4505QAPST → AGPPRP in CAA52240. (PubMed:7959731)Curated
Sequence conflicti446 – 4505QAPST → AGPPRP in CAA55038. (PubMed:7599184)Curated
Sequence conflicti446 – 4461Q → P in CAA52239. (PubMed:7959731)Curated
Sequence conflicti449 – 4502ST → RP in CAA52239. (PubMed:7959731)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti109 – 1091P → L.1 Publication
VAR_064395
Natural varianti215 – 2151F → L in RTTCV. 1 Publication
VAR_063885
Natural varianti244 – 2441R → C in RTTCV; the mutant protein extensively, although not fully, localizes in nuclear speckles, while the wild-type is more widely dispersed throughout the nucleus. 1 Publication
VAR_064396

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X74142 mRNA. Translation: CAA52239.1.
X74143 mRNA. Translation: CAA52240.1.
X74144 mRNA. Translation: CAA52241.1.
X78202 Genomic DNA. Translation: CAA55038.1.
AL049777 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW65978.1.
BC050072 mRNA. Translation: AAH50072.1.
CCDSiCCDS9636.1.
PIRiB54743.
I37451.
RefSeqiNP_005240.3. NM_005249.4.
UniGeneiHs.632336.
Hs.740590.
Hs.741222.

Genome annotation databases

EnsembliENST00000313071; ENSP00000339004; ENSG00000176165.
GeneIDi2290.
KEGGihsa:2290.
UCSCiuc001wqe.4. human.

Polymorphism databases

DMDMi152031604.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

FOXG1 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X74142 mRNA. Translation: CAA52239.1 .
X74143 mRNA. Translation: CAA52240.1 .
X74144 mRNA. Translation: CAA52241.1 .
X78202 Genomic DNA. Translation: CAA55038.1 .
AL049777 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW65978.1 .
BC050072 mRNA. Translation: AAH50072.1 .
CCDSi CCDS9636.1.
PIRi B54743.
I37451.
RefSeqi NP_005240.3. NM_005249.4.
UniGenei Hs.632336.
Hs.740590.
Hs.741222.

3D structure databases

ProteinModelPortali P55316.
SMRi P55316. Positions 181-269.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108580. 10 interactions.
IntActi P55316. 2 interactions.
MINTi MINT-1407364.
STRINGi 9606.ENSP00000339004.

PTM databases

PhosphoSitei P55316.

Polymorphism databases

DMDMi 152031604.

Proteomic databases

PaxDbi P55316.
PRIDEi P55316.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000313071 ; ENSP00000339004 ; ENSG00000176165 .
GeneIDi 2290.
KEGGi hsa:2290.
UCSCi uc001wqe.4. human.

Organism-specific databases

CTDi 2290.
GeneCardsi GC14P029235.
HGNCi HGNC:3811. FOXG1.
MIMi 164874. gene.
613454. phenotype.
neXtProti NX_P55316.
Orphaneti 261229. 14q11.2 microduplication syndrome.
261144. 14q12 microdeletion syndrome.
3095. Atypical Rett syndrome.
PharmGKBi PA162388806.
PA28228.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5025.
GeneTreei ENSGT00760000118794.
HOGENOMi HOG000112629.
HOVERGENi HBG051645.
InParanoidi P55316.
KOi K09385.
OMAi HPMSYST.
OrthoDBi EOG7N37DT.
PhylomeDBi P55316.
TreeFami TF316127.

Miscellaneous databases

ChiTaRSi FOXG1. human.
GeneWikii FOXG1.
GenomeRNAii 2290.
NextBioi 9307.
PROi P55316.
SOURCEi Search...

Gene expression databases

Bgeei P55316.
CleanExi HS_FOXG1.
Genevestigatori P55316.

Family and domain databases

Gene3Di 1.10.10.10. 1 hit.
InterProi IPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF00250. Fork_head. 1 hit.
[Graphical view ]
PRINTSi PR00053. FORKHEAD.
SMARTi SM00339. FH. 1 hit.
[Graphical view ]
PROSITEi PS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human brain factor 1, a new member of the fork head gene family."
    Murphy D.B., Wiese S., Burfeind P., Schmundt D., Mattei M.-G., Schulz-Schaeffer W., Thies U.
    Genomics 21:551-557(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    Tissue: Fetal brain.
  2. "The genes for human brain factor 1 and 2, members of the fork head gene family, are clustered on chromosome 14q."
    Wiese S., Murphy D.B., Schlung A., Burfeind P., Schmundt D., Schnulle V., Mattei M.-G., Thies U.
    Biochim. Biophys. Acta 1262:105-112(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "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].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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].
    Tissue: Brain.
  6. "Human PLU-1 has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9."
    Tan K., Shaw A.L., Madsen B., Jensen K., Taylor-Papadimitriou J., Freemont P.S.
    J. Biol. Chem. 278:20507-20513(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH KDM5B, MUTAGENESIS OF 388-VAL-PRO-389; 394-VAL-PRO-395 AND PRO-404, FUNCTION.
  7. "Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation."
    Bredenkamp N., Seoighe C., Illing N.
    Dev. Genes Evol. 217:227-233(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION OF FOXG1 AS A SINGLE-COPY GENE.
  8. "A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization."
    Guen T.L., Fichou Y., Nectoux J., Bahi-Buisson N., Rivier F., Boddaert N., Diebold B., Heron D., Chelly J., Bienvenu T.
    Hum. Mutat. 32:E2026-E2035(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, VARIANT RTTCV CYS-244, VARIANT LEU-109, CHARACTERIZATION OF VARIANT RTTCV CYS-244.
  9. Cited for: VARIANT RTTCV LEU-215.

Entry informationi

Entry nameiFOXG1_HUMAN
AccessioniPrimary (citable) accession number: P55316
Secondary accession number(s): A6NFY2
, P55315, Q14488, Q86XT7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: July 10, 2007
Last modified: November 26, 2014
This is version 124 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

Caution

PubMed:7959731 claims that there are 3 different FOXG1 proteins, FOXG1A, FOXG1B, and FOXG1C. It was latter found that there is only one gene and the differences between these three may be sequencing errors since the protein is coded in a unique exon.Curated

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