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Q9UBX5

- FBLN5_HUMAN

UniProt

Q9UBX5 - FBLN5_HUMAN

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Protein

Fibulin-5

Gene

FBLN5

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

Functioni

Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Could be a vascular ligand for integrin receptors and may play a role in vascular development and remodeling.

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. integrin binding Source: ProtInc
  3. protein C-terminus binding Source: BHF-UCL

GO - Biological processi

  1. cell-matrix adhesion Source: ProtInc
  2. elastic fiber assembly Source: BHF-UCL
  3. extracellular matrix organization Source: Reactome
  4. protein localization to cell surface Source: BHF-UCL
  5. regulation of cell growth Source: Ensembl
  6. regulation of removal of superoxide radicals Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium

Enzyme and pathway databases

ReactomeiREACT_150331. Molecules associated with elastic fibres.
REACT_150366. Elastic fibre formation.

Names & Taxonomyi

Protein namesi
Recommended name:
Fibulin-5
Short name:
FIBL-5
Alternative name(s):
Developmental arteries and neural crest EGF-like protein
Short name:
Dance
Urine p50 protein
Short name:
UP50
Gene namesi
Name:FBLN5
Synonyms:DANCE
ORF Names:UNQ184/PRO210
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:3602. FBLN5.

Subcellular locationi

GO - Cellular componenti

  1. elastic fiber Source: Ensembl
  2. extracellular region Source: Reactome
  3. extracellular space Source: BHF-UCL
  4. extracellular vesicular exosome Source: UniProtKB
  5. proteinaceous extracellular matrix Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Cutis laxa, autosomal dominant, 2 (ADCL2) [MIM:614434]: A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100]: A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti227 – 2271S → P in ARCL1A. 2 Publications
Corresponds to variant rs28939370 [ dbSNP | Ensembl ].
VAR_017153
Macular degeneration, age-related, 3 (ARMD3) [MIM:608895]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601V → L in ARMD3. 1 Publication
Corresponds to variant rs28939371 [ dbSNP | Ensembl ].
VAR_019814
Natural varianti71 – 711R → Q in ARMD3. 1 Publication
Corresponds to variant rs28939372 [ dbSNP | Ensembl ].
VAR_019815
Natural varianti87 – 871P → S in ARMD3. 1 Publication
Corresponds to variant rs28939373 [ dbSNP | Ensembl ].
VAR_019816
Natural varianti169 – 1691I → T in ARMD3. 1 Publication
Corresponds to variant rs28939072 [ dbSNP | Ensembl ].
VAR_019817
Natural varianti351 – 3511R → W in ARMD3. 1 Publication
Corresponds to variant rs28939073 [ dbSNP | Ensembl ].
VAR_019818
Natural varianti363 – 3631A → T in ARMD3. 1 Publication
VAR_019819
Natural varianti412 – 4121G → E in ARMD3. 1 Publication
VAR_019820

Keywords - Diseasei

Age-related macular degeneration, Disease mutation

Organism-specific databases

MIMi219100. phenotype.
608895. phenotype.
614434. phenotype.
Orphaneti279. Age-related macular degeneration.
90348. Autosomal dominant cutis laxa.
90349. Autosomal recessive cutis laxa type 1.
280598. Hereditary sensorimotor neuropathy with hyperelastic skin.
PharmGKBiPA28015.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323Sequence AnalysisAdd
BLAST
Chaini24 – 448425Fibulin-5PRO_0000007577Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi46 ↔ 59PROSITE-ProRule annotation
Disulfide bondi53 ↔ 68PROSITE-ProRule annotation
Disulfide bondi131 ↔ 144PROSITE-ProRule annotation
Disulfide bondi138 ↔ 153PROSITE-ProRule annotation
Disulfide bondi155 ↔ 166PROSITE-ProRule annotation
Disulfide bondi172 ↔ 181PROSITE-ProRule annotation
Disulfide bondi177 ↔ 190PROSITE-ProRule annotation
Disulfide bondi192 ↔ 205PROSITE-ProRule annotation
Disulfide bondi211 ↔ 221PROSITE-ProRule annotation
Disulfide bondi217 ↔ 230PROSITE-ProRule annotation
Disulfide bondi232 ↔ 245PROSITE-ProRule annotation
Disulfide bondi251 ↔ 262PROSITE-ProRule annotation
Disulfide bondi258 ↔ 271PROSITE-ProRule annotation
Disulfide bondi273 ↔ 286PROSITE-ProRule annotation
Glycosylationi283 – 2831N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi292 ↔ 305PROSITE-ProRule annotation
Glycosylationi296 – 2961N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi299 ↔ 314PROSITE-ProRule annotation
Disulfide bondi320 ↔ 332PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9UBX5.
PeptideAtlasiQ9UBX5.
PRIDEiQ9UBX5.

2D gel databases

REPRODUCTION-2DPAGEIPI00294615.

Expressioni

Tissue specificityi

Expressed predominantly in heart, ovary, and colon but also in kidney, pancreas, testis, lung and placenta. Not detectable in brain, liver, thymus, prostate, or peripheral blood leukocytes.

Gene expression databases

BgeeiQ9UBX5.
CleanExiHS_FBLN5.
ExpressionAtlasiQ9UBX5. baseline and differential.
GenevestigatoriQ9UBX5.

Organism-specific databases

HPAiCAB025843.
HPA000848.
HPA000868.

Interactioni

Subunit structurei

Homodimer.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
EFEMP2O959673EBI-947897,EBI-743414
ELNP155023EBI-947897,EBI-1222108
FBN1P355553EBI-947897,EBI-2505934
LTBP2Q147672EBI-947897,EBI-1546118

Protein-protein interaction databases

BioGridi115771. 8 interactions.
IntActiQ9UBX5. 17 interactions.
MINTiMINT-2868380.
STRINGi9606.ENSP00000345008.

Structurei

3D structure databases

ProteinModelPortaliQ9UBX5.
SMRiQ9UBX5. Positions 42-324.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini42 – 8241EGF-like 1; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini127 – 16741EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini168 – 20639EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini207 – 24640EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini247 – 28741EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini288 – 33346EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi54 – 563Cell attachment siteSequence Analysis

Sequence similaritiesi

Belongs to the fibulin family.Curated
Contains 6 EGF-like domains.PROSITE-ProRule annotation

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiNOG309650.
GeneTreeiENSGT00760000118806.
HOGENOMiHOG000234337.
HOVERGENiHBG051560.
InParanoidiQ9UBX5.
KOiK17340.
PhylomeDBiQ9UBX5.
TreeFamiTF317514.

Family and domain databases

InterProiIPR026823. cEGF.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_N_dom.
[Graphical view]
PfamiPF12662. cEGF. 1 hit.
PF07645. EGF_CA. 3 hits.
[Graphical view]
SMARTiSM00179. EGF_CA. 4 hits.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 3 hits.
PROSITEiPS00010. ASX_HYDROXYL. 4 hits.
PS01186. EGF_2. 4 hits.
PS50026. EGF_3. 5 hits.
PS01187. EGF_CA. 6 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q9UBX5-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MPGIKRILTV TILALCLPSP GNAQAQCTNG FDLDRQSGQC LDIDECRTIP
60 70 80 90 100
EACRGDMMCV NQNGGYLCIP RTNPVYRGPY SNPYSTPYSG PYPAAAPPLS
110 120 130 140 150
APNYPTISRP LICRFGYQMD ESNQCVDVDE CATDSHQCNP TQICINTEGG
160 170 180 190 200
YTCSCTDGYW LLEGQCLDID ECRYGYCQQL CANVPGSYSC TCNPGFTLNE
210 220 230 240 250
DGRSCQDVNE CATENPCVQT CVNTYGSFIC RCDPGYELEE DGVHCSDMDE
260 270 280 290 300
CSFSEFLCQH ECVNQPGTYF CSCPPGYILL DDNRSCQDIN ECEHRNHTCN
310 320 330 340 350
LQQTCYNLQG GFKCIDPIRC EEPYLRISDN RCMCPAENPG CRDQPFTILY
360 370 380 390 400
RDMDVVSGRS VPADIFQMQA TTRYPGAYYI FQIKSGNEGR EFYMRQTGPI
410 420 430 440
SATLVMTRPI KGPREIQLDL EMITVNTVIN FRGSSVIRLR IYVSQYPF
Length:448
Mass (Da):50,180
Last modified:May 1, 2000 - v1
Checksum:i19FCA51FDA328003
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti69 – 702IP → HS in AAC62107. 1 PublicationCurated
Sequence conflicti147 – 1482TE → MK in AAC62107. 1 PublicationCurated
Sequence conflicti228 – 2281F → L in AAQ89257. (PubMed:12975309)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601V → L in ARMD3. 1 Publication
Corresponds to variant rs28939371 [ dbSNP | Ensembl ].
VAR_019814
Natural varianti71 – 711R → Q in ARMD3. 1 Publication
Corresponds to variant rs28939372 [ dbSNP | Ensembl ].
VAR_019815
Natural varianti87 – 871P → S in ARMD3. 1 Publication
Corresponds to variant rs28939373 [ dbSNP | Ensembl ].
VAR_019816
Natural varianti169 – 1691I → T in ARMD3. 1 Publication
Corresponds to variant rs28939072 [ dbSNP | Ensembl ].
VAR_019817
Natural varianti227 – 2271S → P in ARCL1A. 2 Publications
Corresponds to variant rs28939370 [ dbSNP | Ensembl ].
VAR_017153
Natural varianti351 – 3511R → W in ARMD3. 1 Publication
Corresponds to variant rs28939073 [ dbSNP | Ensembl ].
VAR_019818
Natural varianti363 – 3631A → T in ARMD3. 1 Publication
VAR_019819
Natural varianti364 – 3641D → Y.
Corresponds to variant rs1802492 [ dbSNP | Ensembl ].
VAR_026986
Natural varianti412 – 4121G → E in ARMD3. 1 Publication
VAR_019820

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ133490 mRNA. Translation: CAB38568.1.
AF112152 mRNA. Translation: AAD41768.1.
AF093118 mRNA. Translation: AAC62107.1.
AY358898 mRNA. Translation: AAQ89257.1.
CR457140 mRNA. Translation: CAG33421.1.
AK075147 mRNA. Translation: BAG52073.1.
CH471061 Genomic DNA. Translation: EAW81466.1.
BC022280 mRNA. Translation: AAH22280.1.
CCDSiCCDS9898.1.
RefSeqiNP_006320.2. NM_006329.3.
UniGeneiHs.332708.

Genome annotation databases

EnsembliENST00000342058; ENSP00000345008; ENSG00000140092.
GeneIDi10516.
KEGGihsa:10516.
UCSCiuc001xzx.4. human.

Polymorphism databases

DMDMi12643876.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ133490 mRNA. Translation: CAB38568.1 .
AF112152 mRNA. Translation: AAD41768.1 .
AF093118 mRNA. Translation: AAC62107.1 .
AY358898 mRNA. Translation: AAQ89257.1 .
CR457140 mRNA. Translation: CAG33421.1 .
AK075147 mRNA. Translation: BAG52073.1 .
CH471061 Genomic DNA. Translation: EAW81466.1 .
BC022280 mRNA. Translation: AAH22280.1 .
CCDSi CCDS9898.1.
RefSeqi NP_006320.2. NM_006329.3.
UniGenei Hs.332708.

3D structure databases

ProteinModelPortali Q9UBX5.
SMRi Q9UBX5. Positions 42-324.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115771. 8 interactions.
IntActi Q9UBX5. 17 interactions.
MINTi MINT-2868380.
STRINGi 9606.ENSP00000345008.

Polymorphism databases

DMDMi 12643876.

2D gel databases

REPRODUCTION-2DPAGE IPI00294615.

Proteomic databases

PaxDbi Q9UBX5.
PeptideAtlasi Q9UBX5.
PRIDEi Q9UBX5.

Protocols and materials databases

DNASUi 10516.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000342058 ; ENSP00000345008 ; ENSG00000140092 .
GeneIDi 10516.
KEGGi hsa:10516.
UCSCi uc001xzx.4. human.

Organism-specific databases

CTDi 10516.
GeneCardsi GC14M092335.
GeneReviewsi FBLN5.
HGNCi HGNC:3602. FBLN5.
HPAi CAB025843.
HPA000848.
HPA000868.
MIMi 219100. phenotype.
604580. gene.
608895. phenotype.
614434. phenotype.
neXtProti NX_Q9UBX5.
Orphaneti 279. Age-related macular degeneration.
90348. Autosomal dominant cutis laxa.
90349. Autosomal recessive cutis laxa type 1.
280598. Hereditary sensorimotor neuropathy with hyperelastic skin.
PharmGKBi PA28015.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG309650.
GeneTreei ENSGT00760000118806.
HOGENOMi HOG000234337.
HOVERGENi HBG051560.
InParanoidi Q9UBX5.
KOi K17340.
PhylomeDBi Q9UBX5.
TreeFami TF317514.

Enzyme and pathway databases

Reactomei REACT_150331. Molecules associated with elastic fibres.
REACT_150366. Elastic fibre formation.

Miscellaneous databases

GeneWikii FBLN5.
GenomeRNAii 10516.
NextBioi 39880.
PROi Q9UBX5.
SOURCEi Search...

Gene expression databases

Bgeei Q9UBX5.
CleanExi HS_FBLN5.
ExpressionAtlasi Q9UBX5. baseline and differential.
Genevestigatori Q9UBX5.

Family and domain databases

InterProi IPR026823. cEGF.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_N_dom.
[Graphical view ]
Pfami PF12662. cEGF. 1 hit.
PF07645. EGF_CA. 3 hits.
[Graphical view ]
SMARTi SM00179. EGF_CA. 4 hits.
[Graphical view ]
SUPFAMi SSF57184. SSF57184. 3 hits.
PROSITEi PS00010. ASX_HYDROXYL. 4 hits.
PS01186. EGF_2. 4 hits.
PS50026. EGF_3. 5 hits.
PS01187. EGF_CA. 6 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Kostka G.
    Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Melanoma.
  2. "DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and balloon-injured arteries."
    Nakamura T., Ruiz-Lozano P., Lindner V., Yabe D., Taniwaki M., Furukawa Y., Kobuke K., Tashiro K., Lu Z., Andon N.L., Schaub R., Matsumori A., Sasayama S., Chien K.R., Honjo T.
    J. Biol. Chem. 274:22476-22483(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. Zemel R., Sholto O., Shaul Y.
    Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Urine.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  6. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
    Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
    , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
    DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Placenta.
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "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: Lung.
  9. Cited for: SUBUNIT.
  10. "Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa."
    Loeys B., van Maldergem L., Mortier G., Coucke P., Gerniers S., Naeyaert J.-M., de Paepe A.
    Hum. Mol. Genet. 11:2113-2118(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARCL1A PRO-227.
  11. "Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene."
    Markova D., Zou Y., Ringpfeil F., Sasaki T., Kostka G., Timpl R., Uitto J., Chu M.-L.
    Am. J. Hum. Genet. 72:998-1004(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN ADCL2.
  12. Cited for: VARIANTS ARMD3 LEU-60; GLN-71; SER-87; THR-169; TRP-351; THR-363 AND GLU-412.
  13. "Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype."
    Elahi E., Kalhor R., Banihosseini S.S., Torabi N., Pour-Jafari H., Houshmand M., Amini S.S.H., Ramezani A., Loeys B.
    J. Invest. Dermatol. 126:1506-1509(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARCL1A PRO-227.

Entry informationi

Entry nameiFBLN5_HUMAN
AccessioniPrimary (citable) accession number: Q9UBX5
Secondary accession number(s): O75966, Q6IAL4, Q6UWA3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 2000
Last modified: November 26, 2014
This is version 144 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 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