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Q96JH8 (RADIL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ras-associating and dilute domain-containing protein
Gene names
Name:RADIL
Synonyms:KIAA1849
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1075 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Downstream effector of Rap required for cell adhesion and migration of neural crest precursors during development. Ref.9

Subunit structure

Interacts with RAP1A; in a GTP-dependent manner. Does not interact with members of the Ras family. Ref.9

Sequence similarities

Belongs to the RADIL family.

Contains 1 dilute domain.

Contains 1 FHA domain.

Contains 1 PDZ (DHR) domain.

Contains 1 Ras-associating domain.

Sequence caution

The sequence AAS07559.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence BAA91543.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAB47478.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Biological processCell adhesion
   Coding sequence diversityAlternative splicing
Polymorphism
   Molecular functionDevelopmental protein
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell adhesion

Inferred from electronic annotation. Source: UniProtKB-KW

multicellular organismal development

Inferred from electronic annotation. Source: UniProtKB-KW

signal transduction

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 4 (identifier: Q96JH8-4)

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: Q96JH8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-495: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q96JH8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-704: Missing.
     705-763: ATPRAQLIQM...AQDSPEAFRS → MSPRVGPVTV...GHYGHPLSPA
Note: No experimental confirmation available.
Isoform 1 (identifier: Q96JH8-1)

The sequence of this isoform differs from the canonical sequence as follows:
     262-279: DSLVYVLNRDRHTVGQRT → PGVCAQPGPAHGGPAD

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10751075Ras-associating and dilute domain-containing protein
PRO_0000050803

Regions

Domain61 – 164104Ras-associating
Domain314 – 38976FHA
Domain497 – 764268Dilute
Domain976 – 106186PDZ
Compositional bias847 – 92579Pro-rich

Amino acid modifications

Modified residue2061Phosphoserine By similarity

Natural variations

Alternative sequence1 – 704704Missing in isoform 3.
VSP_016097
Alternative sequence1 – 495495Missing in isoform 2.
VSP_016098
Alternative sequence262 – 27918DSLVY…VGQRT → PGVCAQPGPAHGGPAD in isoform 1.
VSP_035179
Alternative sequence705 – 76359ATPRA…EAFRS → MSPRVGPVTVARIPASCVHR AGDSGLNLLAPGFPHRWAGR PGEGGSFSCGHYGHPLSPA in isoform 3.
VSP_016099
Natural variant2391D → N. Ref.1 Ref.3 Ref.11
Corresponds to variant rs3763384 [ dbSNP | Ensembl ].
VAR_046192
Natural variant4121H → D. Ref.1 Ref.2 Ref.3
Corresponds to variant rs2292498 [ dbSNP | Ensembl ].
VAR_046193
Natural variant8861S → G. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6 Ref.7 Ref.8
Corresponds to variant rs414035 [ dbSNP | Ensembl ].
VAR_023769
Natural variant9381L → P. Ref.7
Corresponds to variant rs6966329 [ dbSNP | Ensembl ].
VAR_060193

Experimental info

Sequence conflict7001T → I in CAB66665. Ref.8

Secondary structure

.................................... 1075
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 4 [UniParc].

Last modified January 11, 2011. Version 5.
Checksum: A071219E8FD10131

FASTA1,075117,455
        10         20         30         40         50         60 
MFYGTHFIMS PPTKSKLKRQ SQLLSSMLSR TLSYKYRDLD STFSSLGASD DPAELSTQLS 

        70         80         90        100        110        120 
APGVLKVFGD SVCTGTHYKS VLATGTSSAR ELVKEALERY ALDPRQAGQY VLCDVVGQAG 

       130        140        150        160        170        180 
DAGQRWQARC FRVFGDSEKP LLIQELWKPR EGLSRRFELR KRSDVEELAA KEVDTITAGI 

       190        200        210        220        230        240 
NAQARRLQRS RAKGTPTPAL GDARSSPPPR LRRTVSETSL SPVNALPAAA QGPEEPGPDA 

       250        260        270        280        290        300 
MRYSLYQSPH LLLLQGYSQQ HDSLVYVLNR DRHTVGQRTP SSKPSISLSA PDILPLHCTI 

       310        320        330        340        350        360 
RRQPLPDSGQ AAGRLVLEPI PGAHISVNFS EVGHRTVVLH HGDLLSLGLY YLLLFKDPAQ 

       370        380        390        400        410        420 
AQPLPARALA RLRAVPQSCR LCGAALGARG AASPTQAALP RRQQLLLEFE PHLEDTLLQR 

       430        440        450        460        470        480 
IMTLIEPGGD DHKLTPAFLL CLCIQHSATH FQPGTFGQLL LKIARLIRET VWEKTKELAE 

       490        500        510        520        530        540 
KQAQLQEPIS LASCAMADLV PDLQPILFWM SNSIELLYFI QQKCPLYMQS MEEQLDITGS 

       550        560        570        580        590        600 
KESLFSCTLT ASEEAMAVLE EVVLYAFQQC VYYVSKSLYI CLPALLECPP FQTERRESWS 

       610        620        630        640        650        660 
SAPELPEELR RVVSVYQAAL DLLRQLQVHP EVASQMLAYL FFFSGTLLLN QLLDRGPSLS 

       670        680        690        700        710        720 
CFHWPRGVQA CARLQQLLEW MRSAGFGAAG EHFFQKLSCT LNLLATPRAQ LIQMSWTALR 

       730        740        750        760        770        780 
AAFPALSPAQ LHRLLTHYQL ASAMGPMSTW EPGAQDSPEA FRSEDVLESY ENPPPIVLPS 

       790        800        810        820        830        840 
DGFQVDLEAN CLDDSIYQHL LYVRHFLWGL RSRASPGSPG RPGSGASQPV CPEGMHHVVL 

       850        860        870        880        890        900 
DGHLEAPSCP LAPRDPGPAA REVAPERTLP LRGAPWAQAP PGRQPSRGGS QAGPPHTDSS 

       910        920        930        940        950        960 
CLLTPPSTPL GPEPGDPDWP ESGGPCGKAL PERQRNGLSG LRGAAPEGDS AALAEESPPA 

       970        980        990       1000       1010       1020 
PSSRSSSTED FCYVFTVELE RGPSGLGMGL IDGMHTHLGA PGLYIQTLLP GSPAAADGRL 

      1030       1040       1050       1060       1070 
SLGDRILEVN GSSLLGLGYL RAVDLIRHGG KKMRFLVAKS DVETAKKIHF RTPPL 

« Hide

Isoform 2 [UniParc].

Checksum: DA26C51AF63798BF
Show »

FASTA58063,118
Isoform 3 [UniParc].

Checksum: FBD298E4B59C5BAB
Show »

FASTA37138,824
Isoform 1 [UniParc].

Checksum: BE16FDC66C40E658
Show »

FASTA1,073116,757

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ASN-239; ASP-412 AND GLY-886.
Tissue: Brain.
[2]"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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 283-1075 (ISOFORM 1), VARIANTS ASP-412 AND GLY-886.
Tissue: Embryo and Teratocarcinoma.
[3]"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 4), VARIANTS ASN-239; ASP-412 AND GLY-886.
Tissue: Testis.
[4]"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].
[5]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLY-886.
[6]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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLY-886.
[7]"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 AND 4), VARIANTS GLY-886 AND PRO-938.
Tissue: Heart, Lung and Skin.
[8]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 533-1075, VARIANT GLY-886.
Tissue: Testis.
[9]"A Rap GTPase interactor, RADIL, mediates migration of neural crest precursors."
Smolen G.A., Schott B.J., Stewart R.A., Diederichs S., Muir B., Provencher H.L., Look A.T., Sgroi D.C., Peterson R.T., Haber D.A.
Genes Dev. 21:2131-2136(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH RAP1A.
[10]"Solution structure of RSGI RUH-007, a PDZ domain."
RIKEN structural genomics initiative (RSGI)
Submitted (MAR-2004) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 973-1069.
[11]"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: VARIANT [LARGE SCALE ANALYSIS] ASN-239, MASS SPECTROMETRY.
Tissue: Leukemic T-cell.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB058752 mRNA. Translation: BAB47478.1. Different initiation.
AK000997 mRNA. Translation: BAA91459.1.
AK001186 mRNA. Translation: BAA91543.1. Different initiation.
EF560723 mRNA. Translation: ABQ59033.1.
AC092610 Genomic DNA. Translation: AAS07559.1. Sequence problems.
CH236953 Genomic DNA. Translation: EAL23966.1.
CH471144 Genomic DNA. Translation: EAW87301.1.
BC004919 mRNA. Translation: AAH04919.2.
BC117317 mRNA. Translation: AAI17318.1.
BC126311 mRNA. Translation: AAI26312.1.
BC143526 mRNA. Translation: AAI43527.1.
AL136731 mRNA. Translation: CAB66665.2.
IPIIPI00437989.
IPI00746097.
IPI00903081.
IPI01012458.
RefSeqNP_060529.4. NM_018059.4.
UniGeneHs.667336.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1UM1NMR-A973-1069[»]
3EC8X-ray2.60A51-193[»]
ProteinModelPortalQ96JH8.
SMRQ96JH8. Positions 49-189, 247-361, 973-1069.
ModBaseSearch...

Protein-protein interaction databases

IntActQ96JH8. 4 interactions.
MINTMINT-1391797.

PTM databases

PhosphoSiteQ96JH8.

Polymorphism databases

DMDM215274236.

Proteomic databases

PaxDbQ96JH8.
PRIDEQ96JH8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000399583; ENSP00000382492; ENSG00000157927.
GeneID55698.
KEGGhsa:55698.
UCSCuc003snh.1. human.
uc003sni.1. human.

Organism-specific databases

CTD55698.
GeneCardsGC07M004836.
H-InvDBHIX0006446.
HGNCHGNC:22226. RADIL.
HPAHPA051776.
MIM611491. gene.
neXtProtNX_Q96JH8.
PharmGKBPA164725261.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG309163.
HOVERGENHBG079536.
OMAGGDDHKL.
OrthoDBEOG4RJG0X.

Gene expression databases

ArrayExpressQ96JH8.
BgeeQ96JH8.
GenevestigatorQ96JH8.
GermOnlineENSG00000157927. Homo sapiens.

Family and domain databases

Gene3D2.60.200.20. 1 hit.
InterProIPR018444. Dil_domain.
IPR002710. Dilute.
IPR000253. FHA_dom.
IPR001478. PDZ.
IPR000159. Ras-assoc.
IPR008984. SMAD_FHA_domain.
[Graphical view]
PfamPF01843. DIL. 1 hit.
PF00595. PDZ. 1 hit.
PF00788. RA. 1 hit.
[Graphical view]
SMARTSM00228. PDZ. 1 hit.
SM00314. RA. 1 hit.
[Graphical view]
SUPFAMSSF50156. PDZ. 1 hit.
SSF49879. SMAD_FHA. 1 hit.
PROSITEPS51126. DILUTE. 1 hit.
PS50006. FHA_DOMAIN. False negative.
PS50106. PDZ. 1 hit.
PS50200. RA. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSRADIL. human.
EvolutionaryTraceQ96JH8.
GenomeRNAi55698.
NextBio60531.
SOURCESearch...

Entry information

Entry nameRADIL_HUMAN
AccessionPrimary (citable) accession number: Q96JH8
Secondary accession number(s): A4D1Z5 expand/collapse secondary AC list , A5YM49, B7ZL20, Q0VFZ9, Q75LH3, Q9BSP5, Q9H0M6, Q9NW43, Q9NWC4
Entry history
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: January 11, 2011
Last modified: May 1, 2013
This is version 94 of the entry and version 5 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families