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Q9UPV0 (CE164_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 101. 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·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Centrosomal protein of 164 kDa

Short name=Cep164
Gene names
Name:CEP164
Synonyms:KIAA1052, NPHP15
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1460 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1. Ref.1 Ref.2 Ref.12

Subunit structure

Interacts (via N-terminus) with ATRIP. Interacts with ATM, ATR and MDC1. Interacts with XPA (via N-terminus) upon UV irradiation. Interacts with CEP83, CCDC92, TTBK2, DVL3, NPHP3 and weakly with NPHP4. Ref.2 Ref.9 Ref.11 Ref.13

Subcellular location

Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole. Nucleus. Note: Localizes specifically to very distally located appendage structures on the mature centriole from which initiate PC formation. Persisted at centrioles throughout mitosis. Expressed in chromatin-enriched nuclear fraction of HeLa cells. In response to DNA damage, it translocates to nuclear foci that contain the DNA damage response proteins KAT5/TIP60 and CHEK1. Ref.1 Ref.2 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13

Tissue specificity

Expressed in several cell lines. Ref.1

Post-translational modification

Phosphorylation at Ser-186 is induced upon DNA-damage caused by treatment with IR irradiation, UV irradiation, hydroxyurea or amphidicolin. Also MDC1-mediated chromatin remodeling is critical for DNA damage-induced phosphorylation.

Involvement in disease

Nephronophthisis 15 (NPHP15) [MIM:614845]: An autosomal recessive disorder characterized by the association of nephronophthisis with Leber congenital amaurosis and retinal degeneration, often resulting in blindness during childhood. Additional features include seizures, cerebellar vermis hypoplasia, facial dysmorphism, bronchiectasis and liver failure. Nephronophthisis is a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11

Sequence similarities

Contains 1 WW domain.

Sequence caution

The sequence AAH00602.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

The sequence AAH54015.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

The sequence BAA83004.2 differs from that shown. Reason: Erroneous initiation.

The sequence BAA91677.1 differs from that shown. Reason: Erroneous initiation.

The sequence CAB56023.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UPV0-1)

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: Q9UPV0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     469-469: E → ERYH
     1242-1250: REWWRQQRI → L

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 14601460Centrosomal protein of 164 kDa
PRO_0000312494

Regions

Domain56 – 8934WW
Region1 – 194194Interaction with ATRIP
Coiled coil1154 – 120653 Potential
Compositional bias110 – 12213Lys-rich
Compositional bias468 – 955488Glu-rich

Amino acid modifications

Modified residue1861Phosphoserine; by ATR and ATM Ref.2

Natural variations

Alternative sequence4691E → ERYH in isoform 2.
VSP_029843
Alternative sequence1242 – 12509REWWRQQRI → L in isoform 2.
VSP_029844
Natural variant111Q → P in NPHP15. Ref.11
VAR_068503
Natural variant931R → W in NPHP15. Ref.11
VAR_068504
Natural variant941S → N.
Corresponds to variant rs490262 [ dbSNP | Ensembl ].
VAR_037511
Natural variant9881T → S. Ref.6
Corresponds to variant rs2305830 [ dbSNP | Ensembl ].
VAR_037512
Natural variant11191Q → R. Ref.6 Ref.7
Corresponds to variant rs573455 [ dbSNP | Ensembl ].
VAR_037513

Experimental info

Mutagenesis1861S → A: Prevents phosphorylation. Ref.2
Sequence conflict1101K → N in AAH54015. Ref.5

Sequences

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

Last modified December 4, 2007. Version 3.
Checksum: 7A4F91E1CB7D1E43

FASTA1,460164,314
        10         20         30         40         50         60 
MAGRPLRIGD QLVLEEDYDE TYIPSEQEIL EFAREIGIDP IKEPELMWLA REGIVAPLPG 

        70         80         90        100        110        120 
EWKPCQDITG DIYYFNFANG QSMWDHPCDE HYRSLVIQER AKLSTSGAIK KKKKKKEKKD 

       130        140        150        160        170        180 
KKDRDPPKSS LALGSSLAPV HVPLGGLAPL RGLVDTPPSA LRGSQSVSLG SSVESGRQLG 

       190        200        210        220        230        240 
ELMLPSQGLK TSAYTKGLLG SIYEDKTALS LLGLGEETNE EDEEESDNQS VHSSSEPLRN 

       250        260        270        280        290        300 
LHLDIGALGG DFEYEESLRT SQPEEKKDVS LDSDAAGPPT PCKPSSPGAD SSLSSAVGKG 

       310        320        330        340        350        360 
RQGSGARPGL PEKEENEKSE PKICRNLVTP KADPTGSEPA KASEKEAPED TVDAGEEGSR 

       370        380        390        400        410        420 
REEAAKEPKK KASALEEGSS DASQELEISE HMKEPQLSDS IASDPKSFHG LDFGFRSRIS 

       430        440        450        460        470        480 
EHLLDVDVLS PVLGGACRQA QQPLGIEDKD DSQSSQDELQ SKQSKGLEER LSPPLPHEER 

       490        500        510        520        530        540 
AQSPPRSLAT EEEPPQGPEG QPEWKEAEEL GEDSAASLSL QLSLQREQAP SPPAACEKGK 

       550        560        570        580        590        600 
EQHSQAEELG PGQEEAEDPE EKVAVSPTPP VSPEVRSTEP VAPPEQLSEA ALKAMEEAVA 

       610        620        630        640        650        660 
QVLEQDQRHL LESKQEKMQQ LREKLCQEEE EEILRLHQQK EQSLSSLRER LQKAIEEEEA 

       670        680        690        700        710        720 
RMREEESQRL SWLRAQVQSS TQADEDQIRA EQEASLQKLR EELESQQKAE RASLEQKNRQ 

       730        740        750        760        770        780 
MLEQLKEEIE ASEKSEQAAL NAAKEKALQQ LREQLEGERK EAVATLEKEH SAELERLCSS 

       790        800        810        820        830        840 
LEAKHREVVS SLQKKIQEAQ QKEEAQLQKC LGQVEHRVHQ KSYHVAGYEH ELSSLLREKR 

       850        860        870        880        890        900 
QEVEGEHERR LDKMKEEHQQ VMAKAREQYE AEERKQRAEL LGHLTGELER LQRAHERELE 

       910        920        930        940        950        960 
TVRQEQHKRL EDLRRRHREQ ERKLQDLELD LETRAKDVKA RLALLEVQEE TARREKQQLL 

       970        980        990       1000       1010       1020 
DVQRQVALKS EEATATHQQL EEAQKEHTHL LQSNQQLREI LDELQARKLK LESQVDLLQA 

      1030       1040       1050       1060       1070       1080 
QSQQLQKHFS SLEAEAQKKQ HLLREVTVEE NNASPHFEPD LHIEDLRKSL GTNQTKEVSS 

      1090       1100       1110       1120       1130       1140 
SLSQSKEDLY LDSLSSHNVW HLLSAEGVAL RSAKEFLVQQ TRSMRRRQTA LKAAQQHWRH 

      1150       1160       1170       1180       1190       1200 
ELASAQEVAK DPPGIKALED MRKNLEKETR HLDEMKSAMR KGHNLLKKKE EKLNQLESSL 

      1210       1220       1230       1240       1250       1260 
WEEASDEGTL GGSPTKKAVT FDLSDMDSLS SESSESFSPP HREWWRQQRI DSTPSLTSRK 

      1270       1280       1290       1300       1310       1320 
IHGLSHSLRQ ISSQLSSVLS ILDSLNPQSP PPLLASMPAQ LPPRDPKSTP TPTYYGSLAR 

      1330       1340       1350       1360       1370       1380 
FSALSSATPT STQWAWDSGQ GPRLPSSVAQ TVDDFLLEKW RKYFPSGIPL LSNSPTPLES 

      1390       1400       1410       1420       1430       1440 
RLGYMSASEQ LRLLQHSHSQ VPEAGSTTFQ GIIEANRRWL ERVKNDPRLP LFSSTPKPKA 

      1450       1460 
TLSLLQLGLD EHNRVKVYRF 

« Hide

Isoform 2 [UniParc].

Checksum: 7F48093100C34819
Show »

FASTA1,455163,544

References

« Hide 'large scale' references
[1]"Cep164, a novel centriole appendage protein required for primary cilium formation."
Graser S., Stierhof Y.-D., Lavoie S.B., Gassner O.S., Lamla S., Le Clech M., Nigg E.A.
J. Cell Biol. 179:321-330(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[2]"Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1."
Sivasubramaniam S., Sun X., Pan Y.R., Wang S., Lee E.Y.
Genes Dev. 22:587-600(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, INTERACTION WITH ATM; ATR; ATRIP AND MDC1, SUBCELLULAR LOCATION, PHOSPHORYLATION AT SER-186, MUTAGENESIS OF SER-186.
[3]"Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 6:197-205(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Brain.
[4]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
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] OF 1-116 (ISOFORMS 1/2).
Tissue: Skin.
[6]"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] OF 868-1460 (ISOFORM 1), VARIANTS SER-988 AND ARG-1119.
Tissue: Testis.
[7]"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 1038-1460 (ISOFORM 1), VARIANT ARG-1119.
Tissue: Testis.
[8]"Proteomic characterization of the human centrosome by protein correlation profiling."
Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M.
Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
Tissue: Lymphoblast.
[9]"UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity."
Pan Y.R., Lee E.Y.
Cell Cycle 8:655-664(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH XPA, SUBCELLULAR LOCATION.
[10]"Assessing the localization of centrosomal proteins by PALM/STORM nanoscopy."
Sillibourne J.E., Specht C.G., Izeddin I., Hurbain I., Tran P., Triller A., Darzacq X., Dahan M., Bornens M.
Cytoskeleton 68:619-627(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[11]"Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling."
Chaki M., Airik R., Ghosh A.K., Giles R.H., Chen R., Slaats G.G., Wang H., Hurd T.W., Zhou W., Cluckey A., Gee H.Y., Ramaswami G., Hong C.J., Hamilton B.A., Cervenka I., Ganji R.S., Bryja V., Arts H.H. expand/collapse author list , van Reeuwijk J., Oud M.M., Letteboer S.J., Roepman R., Husson H., Ibraghimov-Beskrovnaya O., Yasunaga T., Walz G., Eley L., Sayer J.A., Schermer B., Liebau M.C., Benzing T., Le Corre S., Drummond I., Janssen S., Allen S.J., Natarajan S., O'Toole J.F., Attanasio M., Saunier S., Antignac C., Koenekoop R.K., Ren H., Lopez I., Nayir A., Stoetzel C., Dollfus H., Massoudi R., Gleeson J.G., Andreoli S.P., Doherty D.G., Lindstrad A., Golzio C., Katsanis N., Pape L., Abboud E.B., Al-Rajhi A.A., Lewis R.A., Omran H., Lee E.Y., Wang S., Sekiguchi J.M., Saunders R., Johnson C.A., Garner E., Vanselow K., Andersen J.S., Shlomai J., Nurnberg G., Nurnberg P., Levy S., Smogorzewska A., Otto E.A., Hildebrandt F.
Cell 150:533-548(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, INTERACTION WITH CCDC92; TTBK2; NPHP3; NPHP4 AND DVL3, VARIANTS NPHP15 PRO-11 AND TRP-93.
[12]"Centriole distal appendages promote membrane docking, leading to cilia initiation."
Tanos B.E., Yang H.J., Soni R., Wang W.J., Macaluso F.P., Asara J.M., Tsou M.F.
Genes Dev. 27:163-168(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[13]"CCDC41 is required for ciliary vesicle docking to the mother centriole."
Joo K., Kim C.G., Lee M.S., Moon H.Y., Lee S.H., Kim M.J., Kweon H.S., Park W.Y., Kim C.H., Gleeson J.G., Kim J.
Proc. Natl. Acad. Sci. U.S.A. 110:5987-5992(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH CEP83, SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB028975 mRNA. Translation: BAA83004.2. Different initiation.
AP000892 Genomic DNA. No translation available.
AP001822 Genomic DNA. No translation available.
BC000602 mRNA. Translation: AAH00602.1. Sequence problems.
BC054015 mRNA. Translation: AAH54015.1. Sequence problems.
AL117632 mRNA. Translation: CAB56023.1. Different initiation.
AK001412 mRNA. Translation: BAA91677.1. Different initiation.
CCDSCCDS31683.1. [Q9UPV0-1]
PIRT17333.
RefSeqNP_001258862.1. NM_001271933.1. [Q9UPV0-2]
NP_055771.4. NM_014956.4. [Q9UPV0-1]
XP_005271513.1. XM_005271456.1. [Q9UPV0-1]
XP_005271514.1. XM_005271457.1. [Q9UPV0-2]
UniGeneHs.504009.

3D structure databases

ProteinModelPortalQ9UPV0.
SMRQ9UPV0. Positions 55-88.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116561. 12 interactions.
IntActQ9UPV0. 10 interactions.
STRING9606.ENSP00000278935.

PTM databases

PhosphoSiteQ9UPV0.

Polymorphism databases

DMDM162416241.

Proteomic databases

MaxQBQ9UPV0.
PaxDbQ9UPV0.
PRIDEQ9UPV0.

Protocols and materials databases

DNASU22897.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000278935; ENSP00000278935; ENSG00000110274. [Q9UPV0-1]
GeneID22897.
KEGGhsa:22897.
UCSCuc001prb.4. human. [Q9UPV0-2]
uc001prc.3. human. [Q9UPV0-1]

Organism-specific databases

CTD22897.
GeneCardsGC11P117198.
H-InvDBHIX0010166.
HGNCHGNC:29182. CEP164.
HPAHPA037605.
HPA037606.
MIM614845. phenotype.
614848. gene.
neXtProtNX_Q9UPV0.
Orphanet3156. Senior-Loken syndrome.
PharmGKBPA142672127.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG73730.
HOGENOMHOG000111523.
HOVERGENHBG065113.
InParanoidQ9UPV0.
KOK16462.
OMAKKEHTHL.
OrthoDBEOG76HQ0R.
PhylomeDBQ9UPV0.
TreeFamTF333034.

Enzyme and pathway databases

ReactomeREACT_115566. Cell Cycle.

Gene expression databases

ArrayExpressQ9UPV0.
BgeeQ9UPV0.
CleanExHS_CEP164.
GenevestigatorQ9UPV0.

Family and domain databases

InterProIPR001202. WW_dom.
[Graphical view]
SMARTSM00456. WW. 1 hit.
[Graphical view]
SUPFAMSSF51045. SSF51045. 1 hit.
PROSITEPS50020. WW_DOMAIN_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCEP164.
GenomeRNAi22897.
NextBio43519.
PROQ9UPV0.
SOURCESearch...

Entry information

Entry nameCE164_HUMAN
AccessionPrimary (citable) accession number: Q9UPV0
Secondary accession number(s): Q6PKH9 expand/collapse secondary AC list , Q7Z2X9, Q9NVS0, Q9UFJ6
Entry history
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: December 4, 2007
Last modified: July 9, 2014
This is version 101 of the entry and version 3 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

SIMILARITY comments

Index of protein domains and families

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 11

Human chromosome 11: entries, gene names and cross-references to MIM