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O75128 (COBL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 79. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein cordon-bleu
Gene names
Name:COBL
Synonyms:KIAA0633
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length1261 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Plays an important role in the reorganization of the actin cytoskeleton. Regulates neuron morphogenesis and increases branching of axons and dendrites. Regulates dendrite branching in Purkinje cells By similarity. Binds to and sequesters actin monomers (G actin). Nucleates actin polymerization by assembling three actin monomers in cross-filament orientation and thereby promotes growth of actin filaments at the barbed end. Can also mediate actin depolymerization at barbed ends and severing of actin filaments. Promotes formation of cell ruffles. Ref.9

Subunit structure

Identified in a complex composed of ACTA1, COBL, GSN AND TMSB4X. Interacts (via WH2 domains) with actin monomers. Interacts with both PACSIN1 and DBNL. Identified in a complex composed of COBL, PACSIN1 and WASL. Interacts with PACSIN1, PACSIN2 and PACSIN3 By similarity.

Subcellular location

Cell membrane; Peripheral membrane protein; Cytoplasmic side By similarity. Cytoplasm › cytoskeleton By similarity. Cell projection › ruffle By similarity. Cytoplasm By similarity. Note: Recruited to the cell membrane via interaction with PACSIN1. Colocalizes with the actin cytoskeleton. Detected throughout the neuron cell body, as well as in axons and dendrites By similarity.

Sequence similarities

Contains 3 WH2 domains.

Sequence caution

The sequence BAA31608.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Cellular componentCell membrane
Cell projection
Cytoplasm
Cytoskeleton
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
   LigandActin-binding
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processactin filament network formation

Inferred from sequence or structural similarity. Source: BHF-UCL

actin filament polymerization

Inferred from sequence or structural similarity. Source: BHF-UCL

collateral sprouting in absence of injury

Inferred from sequence or structural similarity. Source: BHF-UCL

digestive tract development

Inferred from sequence or structural similarity. Source: BHF-UCL

embryonic axis specification

Inferred from sequence or structural similarity. Source: BHF-UCL

floor plate development

Inferred from sequence or structural similarity. Source: BHF-UCL

liver development

Inferred from sequence or structural similarity. Source: BHF-UCL

neural tube closure

Inferred from sequence or structural similarity. Source: BHF-UCL

notochord development

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of dendrite development

Inferred from sequence or structural similarity. Source: BHF-UCL

somite specification

Inferred from sequence or structural similarity. Source: BHF-UCL

   Cellular_componentactin filament

Inferred from electronic annotation. Source: Compara

axonal growth cone

Inferred from sequence or structural similarity. Source: BHF-UCL

cell cortex

Inferred from sequence or structural similarity. Source: BHF-UCL

dendritic growth cone

Inferred from sequence or structural similarity. Source: BHF-UCL

neuronal cell body

Inferred from sequence or structural similarity. Source: BHF-UCL

perinuclear region of cytoplasm

Inferred from sequence or structural similarity. Source: BHF-UCL

plasma membrane

Inferred from sequence or structural similarity. Source: BHF-UCL

ruffle

Inferred from sequence or structural similarity. Source: BHF-UCL

   Molecular_functionactin monomer binding

Inferred from sequence or structural similarity. Source: BHF-UCL

Complete GO annotation...

Alternative products

This entry describes 7 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O75128-1)

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.
Isoform 2 (identifier: O75128-2)

The sequence of this isoform differs from the canonical sequence as follows:
     261-261: K → KAEQLVLSGADSDEDTSRAAPGRGLN
     366-366: V → GGGRQVPQKPPRGTARGPPQLVLPPPPPYPPPDTDVVEPLSFPGEGAGSEASDPIPKL
Isoform 3 (identifier: O75128-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1169-1215: Missing.
Isoform 4 (identifier: O75128-4)

The sequence of this isoform differs from the canonical sequence as follows:
     367-469: SLPLGSGSHC...KNGSENSHLR → YGAAEAVIRL...LAFGRQSLIS
     470-1261: Missing.
Isoform 5 (identifier: O75128-5)

The sequence of this isoform differs from the canonical sequence as follows:
     367-379: SLPLGSGSHCSPD → YCCASFPTQAKRF
     380-1261: Missing.
Isoform 6 (identifier: O75128-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-458: Missing.
     459-468: EKNGSENSHL → MSAPFSLVFP
Note: No experimental confirmation available.
Isoform 7 (identifier: O75128-7)

The sequence of this isoform differs from the canonical sequence as follows:
     366-366: V → GGGRQVPQKPPRGTARGPPQLVLPPPPPYPPPDTDVVEPLSFPGEGAGSEASDPIPKL
     1169-1215: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12611261Protein cordon-bleu
PRO_0000260491

Regions

Domain1109 – 112921WH2 1
Domain1149 – 116921WH2 2
Domain1237 – 125721WH2 3
Motif298 – 3036KKRRAP 1
Motif331 – 3366KKRRAP 2
Compositional bias22 – 254Poly-Pro
Compositional bias303 – 35149Pro-rich
Compositional bias1021 – 10244Poly-Pro
Compositional bias1207 – 12137Poly-Pro

Amino acid modifications

Modified residue2351Phosphoserine By similarity
Modified residue7411Phosphoserine Ref.6 Ref.8
Modified residue7511Phosphoserine By similarity
Modified residue8151Phosphoserine Ref.8

Natural variations

Alternative sequence1 – 458458Missing in isoform 6.
VSP_040711
Alternative sequence2611K → KAEQLVLSGADSDEDTSRAA PGRGLN in isoform 2.
VSP_021607
Alternative sequence3661V → GGGRQVPQKPPRGTARGPPQ LVLPPPPPYPPPDTDVVEPL SFPGEGAGSEASDPIPKL in isoform 2 and isoform 7.
VSP_021608
Alternative sequence367 – 469103SLPLG…NSHLR → YGAAEAVIRLLSLLLNTTAP GTAKPRTLWMSEGRSSLHNP EIKCSCFSSSSPFPQSLLSL LLGLSSICECMCTLRHTHAH THNPSCVLPTSEILAFGRQS LIS in isoform 4.
VSP_021609
Alternative sequence367 – 37913SLPLG…HCSPD → YCCASFPTQAKRF in isoform 5.
VSP_021610
Alternative sequence380 – 1261882Missing in isoform 5.
VSP_021611
Alternative sequence459 – 46810EKNGSENSHL → MSAPFSLVFP in isoform 6.
VSP_040712
Alternative sequence470 – 1261792Missing in isoform 4.
VSP_021612
Alternative sequence1169 – 121547Missing in isoform 3 and isoform 7.
VSP_021613
Natural variant5261P → L. Ref.2
Corresponds to variant rs17656599 [ dbSNP | Ensembl ].
VAR_050894
Natural variant5771D → A. Ref.2 Ref.4 Ref.5
Corresponds to variant rs10230120 [ dbSNP | Ensembl ].
VAR_029043
Natural variant6071V → I. Ref.2 Ref.4 Ref.5
Corresponds to variant rs2240090 [ dbSNP | Ensembl ].
VAR_029044
Natural variant9191H → Q. Ref.2
Corresponds to variant rs2240089 [ dbSNP | Ensembl ].
VAR_050895
Natural variant9271D → N. Ref.5
Corresponds to variant rs17134128 [ dbSNP | Ensembl ].
VAR_029045
Natural variant10151A → P. Ref.5
Corresponds to variant rs17134127 [ dbSNP | Ensembl ].
VAR_029046

Experimental info

Sequence conflict4811Missing in AAH29275. Ref.5
Sequence conflict6011H → Y in AAH45771. Ref.5
Sequence conflict8811V → A in AAI44100. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 28, 2006. Version 2.
Checksum: 2DA7113EFD343AB3

FASTA1,261135,617
        10         20         30         40         50         60 
MDAPRASAAK PPTGRKMKAR APPPPGKAAT LHVHSDQKPP HDGALGSQQN LVRMKEALRA 

        70         80         90        100        110        120 
STMDVTVVLP SGLEKRSVLN GSHAMMDLLV ELCLQNHLNP SHHALEIRSS ETQQPLSFKP 

       130        140        150        160        170        180 
NTLIGTLNVH TVFLKEKVPE EKVKPGPPKV PEKSVRLVVN YLRTQKAVVR VSPEVPLQNI 

       190        200        210        220        230        240 
LPVICAKCEV SPEHVVLLRD NIAGEELELS KSLNELGIKE LYAWDNRRET FRKSSLGNDE 

       250        260        270        280        290        300 
TDKEKKKFLG FFKVNKRSNS KGCLTTPNSP SMHSRSLTLG PSLSLGSISG VSVKSEMKKR 

       310        320        330        340        350        360 
RAPPPPGSGP PVQDKASEKV SLGSQIDLQK KKRRAPAPPP PQPPPPSPLI PNRTEDKEEN 

       370        380        390        400        410        420 
RKSTMVSLPL GSGSHCSPDG APQVLSEAEE TVSVGSCFAS EDTTEDSGVM SSPSDIVSLD 

       430        440        450        460        470        480 
SQQDSMKYKD KWATDQEDCS DQDLAGTPDL GPQKSPLWEK NGSENSHLRT EKAVTASNDE 

       490        500        510        520        530        540 
EDLLIAGEFR KTLAELDEDL EEMEDSYETD TSSLTSSIHG ASNHCPQDAM IPHGDTDAIP 

       550        560        570        580        590        600 
VTFIGEVSDD PVDSGLFSNR NNNAGSFDSE GVASRRDSLA PLQAEHSQPH EKAREEVPAL 

       610        620        630        640        650        660 
HPASHDVGKG IRVALSNISK DGNLMETAPR VTSFASNLHT DNLNAKVKDK VYGCADGERT 

       670        680        690        700        710        720 
QATERVNSQP VNEKDSNDKN AALAPTSWHQ RGQNPGKSYR LKHGLTTYKI IPPKSEMRCY 

       730        740        750        760        770        780 
DRDVSLSTGA IKIDELGNLV SPHATGIRII SLSSSVPEAE SQPIGKVREF WRCNSVEKHL 

       790        800        810        820        830        840 
GRPSESSARG PPSTPVPTQT QNPESRLQAD PKPISPQQKS AHHEGRNPLG EGRNQPPTMG 

       850        860        870        880        890        900 
MGHVRVPAAH TTEVTFLKPQ RRTSSQYVAS AIAKRIGAPK VHADVVRPHG YAEKGYAGKA 

       910        920        930        940        950        960 
PVLAAPPVTV KDDRTSSPHS ETQGWKDGAQ WPCVTPPNNH GEDLAVGAPP RGEVIGPHRK 

       970        980        990       1000       1010       1020 
LSTQDRPAAI HRSSCFSLVQ SSQRDRVSVG QSCGFSGKQS TSSQEASSAS EPRRAPDGTD 

      1030       1040       1050       1060       1070       1080 
PPPPHTSDTQ ACSRELVNGS VRAPGHGEPS HPPGGSGTES HILLEREEKP SVFSTDGNET 

      1090       1100       1110       1120       1130       1140 
DSIWPPSIFG PKKKFKPVVQ RPVPKDTSLH SALMEAIHSA GGKDRLRKTA EHTGEGRPAK 

      1150       1160       1170       1180       1190       1200 
LSYTEAEGER SALLAAIRGH SGTCSLRKVA SSASEELQSF RDAALSAQGS ESPLLEDLGL 

      1210       1220       1230       1240       1250       1260 
LSPPAIPPPP PPPSQALSAP RTASRFSTGT LSNTADARQA LMDAIRSGTG AARLRKVPLL 


V

« Hide

Isoform 2 [UniParc].

Checksum: F195588E26B3D060
Show »

FASTA1,343143,928
Isoform 3 [UniParc].

Checksum: 968E9E2FCC7DAF89
Show »

FASTA1,214130,883
Isoform 4 [UniParc].

Checksum: 22AC1B78CDA5253D
Show »

FASTA46951,195
Isoform 5 [UniParc].

Checksum: B29154E217C991EE
Show »

FASTA37941,620
Isoform 6 [UniParc].

Checksum: 07D623D2E4A621A3
Show »

FASTA80385,849
Isoform 7 [UniParc].

Checksum: 4A54B47129EA87A8
Show »

FASTA1,271136,682

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[2]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6), VARIANTS LEU-526; ALA-577; ILE-607 AND GLN-919.
Tissue: Brain.
[3]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ALA-577 AND ILE-607.
[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] (ISOFORMS 1; 3; 4; 5 AND 7), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 198-1261 (ISOFORM 2), VARIANTS ALA-577; ILE-607; ASN-927 AND PRO-1015.
Tissue: Brain, Cervix, Muscle, Placenta and Testis.
[6]"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-741, MASS SPECTROMETRY.
Tissue: Cervix carcinoma.
[7]"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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"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 SER-741 AND SER-815, MASS SPECTROMETRY.
Tissue: Cervix carcinoma.
[9]"Cordon-Bleu uses WH2 domains as multifunctional dynamizers of actin filament assembly."
Husson C., Renault L., Didry D., Pantaloni D., Carlier M.F.
Mol. Cell 43:464-477(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		AB014533 mRNA. Translation: BAA31608.1. Different initiation.
AL713786 mRNA. Translation: CAD28543.1.
AC005535 Genomic DNA. No translation available.
AC012372 Genomic DNA. No translation available.
AC004414 Genomic DNA. No translation available.
CH236955 Genomic DNA. Translation: EAL23896.1.
CH471128 Genomic DNA. Translation: EAW60962.1.
BC029275 mRNA. Translation: AAH29275.1.
BC045771 mRNA. Translation: AAH45771.1.
BC094695 mRNA. Translation: AAH94695.1.
BC111496 mRNA. Translation: AAI11497.1.
BC136441 mRNA. Translation: AAI36442.1.
BC144099 mRNA. Translation: AAI44100.1.
BC150263 mRNA. Translation: AAI50264.1.
IPIIPI00329653.
IPI00384529.
IPI00807589.
IPI00807621.
IPI00807645.
IPI00927568.
IPI00979308.
PIRT00381.
RefSeqNP_056013.2. NM_015198.3.
UniGeneHs.99141.

3D structure databases

HSSPHSSP built from PDB template 2DAJ based on UniProtKB Q6IQ33.
ProteinModelPortalO75128.
ModBaseSearch...

Protein-protein interaction databases

IntActO75128. 1 interaction.
STRING9606.ENSP00000265136.

PTM databases

PhosphoSiteO75128.

Proteomic databases

PaxDbO75128.
PRIDEO75128.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000265136; ENSP00000265136; ENSG00000106078.
ENST00000395540; ENSP00000378910; ENSG00000106078.
ENST00000395542; ENSP00000378912; ENSG00000106078.
ENST00000441453; ENSP00000399500; ENSG00000106078.
GeneID23242.
KEGGhsa:23242.
UCSCuc003tpo.4. human.
uc003tpp.4. human.
uc003tpq.4. human.
uc003tpr.4. human.
uc003tps.3. human.
uc003tpt.3. human.

Organism-specific databases

CTD23242.
GeneCardsGC07M051051.
HGNCHGNC:22199. COBL.
HPAHPA019033.
HPA019167.
MIM610317. gene.
neXtProtNX_O75128.
PharmGKBPA134869580.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG76967.
HOVERGENHBG081301.
OMAQKPPRGT.
OrthoDBEOG4R23TC.

Gene expression databases

ArrayExpressO75128.
BgeeO75128.
CleanExHS_COBL.
GenevestigatorO75128.
GermOnlineENSG00000106078. Homo sapiens.

Family and domain databases

InterProIPR019025. Cordon-bleu_domain.
IPR003124. WH2_dom.
[Graphical view]
PfamPF09469. Cobl. 1 hit.
PF02205. WH2. 3 hits.
[Graphical view]
SMARTSM00246. WH2. 3 hits.
[Graphical view]
PROSITEPS51082. WH2. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi23242.
NextBio44908.
SOURCESearch...

Entry information

Entry nameCOBL_HUMAN
AccessionPrimary (citable) accession number: O75128
Secondary accession number(s): A4D257 expand/collapse secondary AC list , A7E2B0, B7ZLW9, B9EGF8, Q2T9J3, Q504Y4, Q86XA7, Q8N304, Q8TCM1
Entry history
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: November 28, 2006
Last modified: May 1, 2013
This is version 79 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

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

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