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Q86UE4 (LYRIC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 99. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein LYRIC
Alternative name(s):
3D3/LYRIC
Astrocyte elevated gene-1 protein
Short name=AEG-1
Lysine-rich CEACAM1 co-isolated protein
Metadherin
Metastasis adhesion protein
Gene names
Name:MTDH
Synonyms:AEG1, LYRIC
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length582 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Downregulates SLC1A2/EAAT2 promoter activity when expressed ectopically. Activates the nuclear factor kappa-B (NF-kappa-B) transcription factor. Promotes anchorage-independent growth of immortalized melanocytes and astrocytes which is a key component in tumor cell expansion. Promotes lung metastasis and also has an effect on bone and brain metastasis, possibly by enhancing the seeding of tumor cells to the target organ endothelium. Induces chemoresistance. Ref.3 Ref.9 Ref.12 Ref.16

Subunit structure

Interacts with BCCIP, CREBBP/CBP and RELA/p65. Ref.9 Ref.11 Ref.12

Subcellular location

Endoplasmic reticulum membrane; Single-pass membrane protein. Nucleus membrane; Single-pass membrane protein By similarity. Cell junctiontight junction By similarity. Nucleusnucleolus By similarity. Cytoplasmperinuclear region. Note: In epithelial cells, recruited to tight junctions (TJ) during the maturation of the TJ complexes. A nucleolar staining may be due to nuclear targeting of an isoform lackingthe transmembrane domain By similarity. TNF-alpha causes translocation from the cytoplasm to the nucleus. Ref.1 Ref.2 Ref.3

Tissue specificity

Widely expressed with highest levels in muscle-dominating organs such as skeletal muscle, heart, tongue and small intestine and in endocrine glands such as thyroid and adrenal gland. Overexpressed in various cancers including breast, brain, prostate, melanoma and glioblastoma multiforme. Ref.3

Induction

By TNF (at protein level). By HIV-1 infection of primary fetal astrocytes. Ref.3 Ref.9

Miscellaneous

Knockdown significantly reduces the adhesion of cancer cells to lung microvascular endothelial cells and the reciprocal effect is observed following overexpression.

Caution

Was originally (Ref.8) thought to be a type II membrane protein but this is inconsistent with the results of multiple phosphorylation studies because this topology would locate the phosphorylation sites in the lumen or extracellularly rather than in the cytoplasm.

Ontologies

Keywords
   Cellular componentCell junction
Cytoplasm
Endoplasmic reticulum
Membrane
Nucleus
Tight junction
   Coding sequence diversityPolymorphism
   DomainTransmembrane
Transmembrane helix
   PTMAcetylation
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processlipopolysaccharide-mediated signaling pathway

Inferred from mutant phenotype PubMed 19740331. Source: UniProtKB

negative regulation of apoptotic process

Inferred from direct assay PubMed 17704808. Source: UniProtKB

negative regulation of transcription from RNA polymerase II promoter

Inferred from direct assay Ref.3. Source: UniProtKB

positive regulation of I-kappaB kinase/NF-kappaB signaling

Inferred from direct assay Ref.9Ref.12. Source: UniProtKB

positive regulation of NF-kappaB transcription factor activity

Inferred from direct assay Ref.9Ref.12. Source: UniProtKB

positive regulation of angiogenesis

Inferred from direct assay PubMed 19940250. Source: UniProtKB

positive regulation of autophagy

Inferred from direct assay PubMed 21127263. Source: UniProtKB

positive regulation of protein kinase B signaling

Inferred from direct assay PubMed 17704808. Source: UniProtKB

tight junction assembly

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentapical plasma membrane

Inferred from sequence or structural similarity. Source: UniProtKB

cytoplasm

Inferred from direct assay PubMed 19648967. Source: UniProtKB

endoplasmic reticulum

Inferred from direct assay Ref.1Ref.3. Source: UniProtKB

endoplasmic reticulum membrane

Inferred from sequence or structural similarity. Source: UniProtKB

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

intercellular canaliculus

Inferred from sequence or structural similarity. Source: UniProtKB

nuclear body

Inferred from direct assay PubMed 19648967. Source: UniProtKB

nuclear membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleolus

Inferred from direct assay. Source: HPA

nucleus

Inferred from direct assay Ref.9. Source: UniProtKB

perinuclear region of cytoplasm

Inferred from direct assay Ref.1Ref.3. Source: UniProtKB

tight junction

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionNF-kappaB binding

Inferred from physical interaction Ref.9. Source: UniProtKB

RNA polymerase II transcription factor binding

Inferred from physical interaction Ref.12. Source: UniProtKB

double-stranded RNA binding

Inferred from direct assay PubMed 21266579. Source: MGI

poly(A) RNA binding

Inferred from direct assay PubMed 22658674PubMed 22681889. Source: UniProtKB

transcription coactivator activity

Inferred from mutant phenotype Ref.12. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CREBBPQ927932EBI-1046588,EBI-81215

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 582582Protein LYRIC
PRO_0000084533

Regions

Topological domain1 – 4848Lumenal Potential
Transmembrane49 – 6921Helical; Potential
Topological domain70 – 582513Cytoplasmic Potential
Region1 – 7171Activation of NF-kappa-B
Region72 – 16998Interaction with BCCIP
Region101 – 205105Interaction with RELA
Region381 – 44363Lung-homing for mammary tumors By similarity
Compositional bias59 – 679Poly-Leu
Compositional bias441 – 45111Poly-Lys
Compositional bias573 – 5775Poly-Lys

Amino acid modifications

Modified residue1431Phosphothreonine Ref.14 Ref.18
Modified residue2641N6-acetyllysine By similarity
Modified residue2981Phosphoserine Ref.10 Ref.13 Ref.14 Ref.18 Ref.20
Modified residue3061Phosphoserine Ref.18
Modified residue3081Phosphoserine Ref.14 Ref.18
Modified residue3111Phosphoserine Ref.14
Modified residue3441Phosphoserine Ref.17
Modified residue3691Phosphoserine Ref.17
Modified residue4151Phosphoserine Ref.10
Modified residue4261Phosphoserine Ref.10 Ref.13 Ref.14 Ref.18 Ref.20
Modified residue4581Phosphothreonine Ref.14
Modified residue5681Phosphoserine Ref.14

Natural variations

Natural variant3171T → A. Ref.5
Corresponds to variant rs17854374 [ dbSNP | Ensembl ].
VAR_054661

Experimental info

Sequence conflict781A → S in AAH09324. Ref.5
Sequence conflict781A → S in AAH45642. Ref.5
Sequence conflict1451Q → H in AAX84832. Ref.4
Sequence conflict5431T → A in AAX84832. Ref.4
Sequence conflict5811E → D in AAX84832. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q86UE4 [UniParc].

Last modified December 21, 2004. Version 2.
Checksum: 2460D6218FD3A4C4

FASTA58263,837
        10         20         30         40         50         60 
MAARSWQDEL AQQAEEGSAR LREMLSVGLG FLRTELGLDL GLEPKRYPGW VILVGTGALG 

        70         80         90        100        110        120 
LLLLFLLGYG WAAACAGARK KRRSPPRKRE EAAAVPAAAP DDLALLKNLR SEEQKKKNRK 

       130        140        150        160        170        180 
KLSEKPKPNG RTVEVAEGEA VRTPQSVTAK QPPEIDKKNE KSKKNKKKSK SDAKAVQNSS 

       190        200        210        220        230        240 
RHDGKEVDEG AWETKISHRE KRQQRKRDKV LTDSGSLDST IPGIENTITV TTEQLTTASF 

       250        260        270        280        290        300 
PVGSKKNKGD SHLNVQVSNF KSGKGDSTLQ VSSGLNENLT VNGGGWNEKS VKLSSQISAG 

       310        320        330        340        350        360 
EEKWNSVSPA SAGKRKTEPS AWSQDTGDAN TNGKDWGRSW SDRSIFSGIG STAEPVSQST 

       370        380        390        400        410        420 
TSDYQWDVSR NQPYIDDEWS GLNGLSSADP NSDWNAPAEE WGNWVDEERA SLLKSQEPIP 

       430        440        450        460        470        480 
DDQKVSDDDK EKGEGALPTG KSKKKKKKKK KQGEDNSTAQ DTEELEKEIR EDLPVNTSKT 

       490        500        510        520        530        540 
RPKQEKAFSL KTISTSDPAE VLVKNSQPIK TLPPATSTEP SVILSKSDSD KSSSQVPPIL 

       550        560        570        580 
QETDKSKSNT KQNSVPPSQT KSETSWESPK QIKKKKKARR ET 

« Hide

References

« Hide 'large scale' references
[1]"3D3/lyric: a novel transmembrane protein of the endoplasmic reticulum and nuclear envelope, which is also present in the nucleolus."
Sutherland H.G.E., Lam Y.W., Briers S., Lamond A.I., Bickmore W.A.
Exp. Cell Res. 294:94-105(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION.
[2]"Identification of a novel protein, LYRIC, localized to tight junctions of polarized epithelial cells."
Britt D.E., Yang D.-F., Yang D.-Q., Flanagan D.L., Callanan H., Lim Y.-P., Lin S.-H., Hixson D.C.
Exp. Cell Res. 300:134-148(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION.
Tissue: Colon carcinoma.
[3]"Cloning and characterization of HIV-1-inducible astrocyte elevated gene-1, AEG-1."
Kang D.-C., Su Z.-Z., Sarkar D., Emdad L., Volsky D.J., Fisher P.B.
Gene 353:8-15(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION.
Tissue: Fetal astrocyte.
[4]"LYRIC protein induces cell migration dependent on its cytoplasmic localization."
Liang Y., Liu G.
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[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], VARIANT ALA-317.
Tissue: Brain, Skin and Testis.
[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. expand/collapse author list , 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] OF 97-582.
Tissue: Hepatoma.
[7]"Gene expression profiling predicts clinical outcome of breast cancer."
van 't Veer L.J., Dai H., van de Vijver M.J., He Y.D., Hart A.A.A., Mao M., Peterse H.L., van der Kooy K., Marton M.J., Witteveen A.T., Schreiber G.J., Kerkhoven R.M., Roberts C., Linsley P.S., Bernards R., Friend S.H.
Nature 415:530-536(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: OVEREXPRESSION IN MAMMARY TUMORS.
[8]"Metadherin, a cell surface protein in breast tumors that mediates lung metastasis."
Brown D.M., Ruoslahti E.
Cancer Cell 5:365-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: OVEREXPRESSION IN TUMORS.
[9]"Activation of the nuclear factor kappaB pathway by astrocyte elevated gene-1: implications for tumor progression and metastasis."
Emdad L., Sarkar D., Su Z.-Z., Randolph A., Boukerche H., Valerie K., Fisher P.B.
Cancer Res. 66:1509-1516(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH RELA, INDUCTION.
[10]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-298; SER-415 AND SER-426, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"LYRIC/AEG-1 overexpression modulates BCCIPalpha protein levels in prostate tumor cells."
Ash S.C., Yang D.Q., Britt D.E.
Biochem. Biophys. Res. Commun. 371:333-338(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH BCCIP.
[12]"Molecular basis of nuclear factor-kappaB activation by astrocyte elevated gene-1."
Sarkar D., Park E.S., Emdad L., Lee S.-G., Su Z.-Z., Fisher P.B.
Cancer Res. 68:1478-1484(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH CREBBP.
[13]"Phosphoproteome of resting human platelets."
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.
J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-298 AND SER-426, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Platelet.
[14]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-143; SER-298; SER-308; SER-311; SER-426; THR-458 AND SER-568, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[15]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[16]"MTDH activation by 8q22 genomic gain promotes chemoresistance and metastasis of poor-prognosis breast cancer."
Hu G., Chong R.A., Yang Q., Wei Y., Blanco M.A., Li F., Reiss M., Au J.L.-S., Haffty B.G., Kang Y.
Cancer Cell 15:9-20(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[17]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-344 AND SER-369, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[18]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-143; SER-298; SER-306; SER-308 AND SER-426, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[19]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[20]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-298 AND SER-426, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF501310 mRNA. Translation: AAP30791.1.
AY082966 mRNA. Translation: AAL92861.1.
AF411226 mRNA. Translation: AAO65771.1.
AY974040 mRNA. Translation: AAX84832.1.
BC009324 mRNA. Translation: AAH09324.1.
BC014977 mRNA. Translation: AAH14977.1.
BC045642 mRNA. Translation: AAH45642.1.
AK000745 mRNA. No translation available.
RefSeqNP_848927.2. NM_178812.3.
UniGeneHs.377155.

3D structure databases

ProteinModelPortalQ86UE4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124913. 13 interactions.
IntActQ86UE4. 8 interactions.
STRING9606.ENSP00000338235.

PTM databases

PhosphoSiteQ86UE4.

Polymorphism databases

DMDM56749088.

Proteomic databases

PaxDbQ86UE4.
PeptideAtlasQ86UE4.
PRIDEQ86UE4.

Protocols and materials databases

DNASU92140.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000336273; ENSP00000338235; ENSG00000147649.
GeneID92140.
KEGGhsa:92140.
UCSCuc003yhz.3. human.

Organism-specific databases

CTD92140.
GeneCardsGC08P098658.
HGNCHGNC:29608. MTDH.
HPAHPA010932.
HPA015104.
MIM610323. gene.
neXtProtNX_Q86UE4.
PharmGKBPA142671307.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG45896.
HOGENOMHOG000113417.
HOVERGENHBG052379.
InParanoidQ86UE4.
OMAGWNEKSV.
OrthoDBEOG7XWPPV.
PhylomeDBQ86UE4.
TreeFamTF331350.

Gene expression databases

ArrayExpressQ86UE4.
BgeeQ86UE4.
CleanExHS_MTDH.
GenevestigatorQ86UE4.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSMTDH. human.
GeneWikiMTDH.
GenomeRNAi92140.
NextBio77609.
PROQ86UE4.
SOURCESearch...

Entry information

Entry nameLYRIC_HUMAN
AccessionPrimary (citable) accession number: Q86UE4
Secondary accession number(s): Q05DH2 expand/collapse secondary AC list , Q52QU9, Q6PK07, Q8TCX3
Entry history
Integrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: December 21, 2004
Last modified: April 16, 2014
This is version 99 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM