Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q8NEZ3 (WDR19_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
WD repeat-containing protein 19
Gene names
Name:WDR19
Synonyms:KIAA1638
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1342 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Involved in cilia function and/or assembly By similarity.

Subunit structure

Component of the IFT complex A (IFT-A). Ref.8

Subcellular location

Cell projectioncilium By similarity. Cytoplasmcytoskeletoncilium basal body By similarity. Note: Localizes to photoreceptor connecting cilia, to the base of motile cilia in brain ependymal cells and to the base of and along primary cilia in kidney cells By similarity.

Tissue specificity

Some isoforms are tissue-specific. Highly expressed in the prostate. Lower expression in the cerebellum, pituitary gland, fetal lung, and pancreas. In normal prostate, expressed in both basal and luminal epithelial cells. No expression detected in fibromuscular stromal cells, endothelial cells, or infiltrating lymphocytes. Uniformed expression in prostate adenocarcinoma cells. Ref.1

Developmental stage

Expressed in fetal lung.

Induction

By androgenic hormones. Expression increased 3-fold in an androgen-stimulated androgen-sensitive prostate adenocarcinoma cell line compared with androgen-deprived cells. Ref.1

Involvement in disease

Cranioectodermal dysplasia 4 (CED4) [MIM:614378]: A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Asphyxiating thoracic dystrophy 5 (ATD5) [MIM:614376]: An autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and hepatic disease can be present in affected individuals who survive early childhood.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Nephronophthisis 13 (NPHP13) [MIM:614377]: An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities

Contains 6 TPR repeats.

Contains 6 WD repeats.

Sequence caution

The sequence AAH32578.1 differs from that shown. Reason: Frameshift at position 421.

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
   Cellular componentCell projection
Cilium
Cytoplasm
Cytoskeleton
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCiliopathy
Disease mutation
Ectodermal dysplasia
Nephronophthisis
   DomainRepeat
TPR repeat
WD repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processciliary receptor clustering involved in smoothened signaling pathway

Inferred from electronic annotation. Source: Ensembl

cilium assembly

Inferred from electronic annotation. Source: Ensembl

digestive system development

Inferred from electronic annotation. Source: Ensembl

ear morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic camera-type eye development

Inferred from electronic annotation. Source: Ensembl

embryonic cranial skeleton morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic limb morphogenesis

Inferred from electronic annotation. Source: Ensembl

in utero embryonic development

Inferred from electronic annotation. Source: Ensembl

myotome development

Inferred from electronic annotation. Source: Ensembl

neurological system process

Inferred from electronic annotation. Source: Ensembl

smoothened signaling pathway involved in dorsal/ventral neural tube patterning

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-KW

cytoskeleton

Inferred from electronic annotation. Source: UniProtKB-KW

intraciliary transport particle A

Inferred from direct assay Ref.8. Source: UniProtKB

motile cilium

Inferred from sequence or structural similarity. Source: UniProtKB

nonmotile primary cilium

Inferred from sequence or structural similarity. Source: UniProtKB

photoreceptor connecting cilium

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NEZ3-1)

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: Q8NEZ3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     453-474: IESEILDAQEERETRLFPAVDD → KAKSWMLTKNVRLGFSQQWMISAVSYAMP
     475-1342: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13421342WD repeat-containing protein 19
PRO_0000233156

Regions

Repeat11 – 5141WD 1
Repeat52 – 9241WD 2
Repeat95 – 13440WD 3
Repeat137 – 17539WD 4
Repeat273 – 31139WD 5
Repeat317 – 35640WD 6
Repeat736 – 76934TPR 1
Repeat775 – 80834TPR 2
Repeat840 – 87334TPR 3
Repeat895 – 92834TPR 4
Repeat951 – 98434TPR 5
Repeat1020 – 105334TPR 6

Natural variations

Alternative sequence453 – 47422IESEI…PAVDD → KAKSWMLTKNVRLGFSQQWM ISAVSYAMP in isoform 2.
VSP_018073
Alternative sequence475 – 1342868Missing in isoform 2.
VSP_018074
Natural variant71L → P in ATD5. Ref.9
VAR_067312
Natural variant3451V → G in NPHP13. Ref.9
VAR_067313
Natural variant7101L → S in CED4. Ref.9
VAR_067314
Natural variant10841G → S.
Corresponds to variant rs16995209 [ dbSNP | Ensembl ].
VAR_053424

Experimental info

Sequence conflict221Q → K in AAK38745. Ref.1
Sequence conflict1221L → V in BAB15550. Ref.2
Sequence conflict1531L → P in BAB15550. Ref.2

Sequences

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

Last modified May 2, 2006. Version 2.
Checksum: FF3DD302231CB5F6

FASTA1,342151,581
        10         20         30         40         50         60 
MKRIFSLLEK TWLGAPIQFA WQKTSGNYLA VTGADYIVKI FDRHGQKRSE INLPGNCVAM 

        70         80         90        100        110        120 
DWDKDGDVLA VIAEKSSCIY LWDANTNKTS QLDNGMRDQM SFLLWSKVGS FLAVGTVKGN 

       130        140        150        160        170        180 
LLIYNHQTSR KIPVLGKHTK RITCGCWNAE NLLALGGEDK MITVSNQEGD TIRQTQVRSE 

       190        200        210        220        230        240 
PSNMQFFLMK MDDRTSAAES MISVVLGKKT LFFLNLNEPD NPADLEFQQD FGNIVCYNWY 

       250        260        270        280        290        300 
GDGRIMIGFS CGHFVVISTH TGELGQEIFQ ARNHKDNLTS IAVSQTLNKV ATCGDNCIKI 

       310        320        330        340        350        360 
QDLVDLKDMY VILNLDEENK GLGTLSWTDD GQLLALSTQR GSLHVFLTKL PILGDACSTR 

       370        380        390        400        410        420 
IAYLTSLLEV TVANPVEGEL PITVSVDVEP NFVAVGLYHL AVGMNNRAWF YVLGENAVKK 

       430        440        450        460        470        480 
LKDMEYLGTV ASICLHSDYA AALFEGKVQL HLIESEILDA QEERETRLFP AVDDKCRILC 

       490        500        510        520        530        540 
HALTSDFLIY GTDTGVVQYF YIEDWQFVND YRHPVSVKKI FPDPNGTRLV FIDEKSDGFV 

       550        560        570        580        590        600 
YCPVNDATYE IPDFSPTIKG VLWENWPMDK GVFIAYDDDK VYTYVFHKDT IQGAKVILAG 

       610        620        630        640        650        660 
STKVPFAHKP LLLYNGELTC QTQSGKVNNI YLSTHGFLSN LKDTGPDELR PMLAQNLMLK 

       670        680        690        700        710        720 
RFSDAWEMCR ILNDEAAWNE LARACLHHME VEFAIRVYRR IGNVGIVMSL EQIKGIEDYN 

       730        740        750        760        770        780 
LLAGHLAMFT NDYNLAQDLY LASSCPIAAL EMRRDLQHWD SALQLAKHLA PDQIPFISKE 

       790        800        810        820        830        840 
YAIQLEFAGD YVNALAHYEK GITGDNKEHD EACLAGVAQM SIRMGDIRRG VNQALKHPSR 

       850        860        870        880        890        900 
VLKRDCGAIL ENMKQFSEAA QLYEKGLYYD KAASVYIRSK NWAKVGDLLP HVSSPKIHLQ 

       910        920        930        940        950        960 
YAKAKEADGR YKEAVVAYEN AKQWQSVIRI YLDHLNNPEK AVNIVRETQS LDGAKMVARF 

       970        980        990       1000       1010       1020 
FLQLGDYGSA IQFLVMSKCN NEAFTLAQQH NKMEIYADII GSEDTTNEDY QSIALYFEGE 

      1030       1040       1050       1060       1070       1080 
KRYLQAGKFF LLCGQYSRAL KHFLKCPSSE DNVAIEMAIE TVGQAKDELL TNQLIDHLLG 

      1090       1100       1110       1120       1130       1140 
ENDGMPKDAK YLFRLYMALK QYREAAQTAI IIAREEQSAG NYRNAHDVLF SMYAELKSQK 

      1150       1160       1170       1180       1190       1200 
IKIPSEMATN LMILHSYILV KIHVKNGDHM KGARMLIRVA NNISKFPSHI VPILTSTVIE 

      1210       1220       1230       1240       1250       1260 
CHRAGLKNSA FSFAAMLMRP EYRSKIDAKY KKKIEGMVRR PDISEIEEAT TPCPFCKFLL 

      1270       1280       1290       1300       1310       1320 
PECELLCPGC KNSIPYCIAT GRHMLKDDWT VCPHCDFPAL YSELKIMLNT ESTCPMCSER 

      1330       1340 
LNAAQLKKIS DCTQYLRTEE EL 

« Hide

Isoform 2 [UniParc].

Checksum: 5258635611B2B67A
Show »

FASTA48153,573

References

« Hide 'large scale' references
[1]"Isolation and characterization of human and mouse WDR19,a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium."
Lin B., White J.T., Utleg A.G., Wang S., Ferguson C., True L.D., Vessella R., Hood L., Nelson P.S.
Genomics 82:331-342(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, TISSUE SPECIFICITY, INDUCTION.
[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).
Tissue: Lung.
[3]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
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] (ISOFORM 2).
Tissue: Eye.
[6]"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 335-1239.
Tissue: Brain.
[7]"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: SEQUENCE REVISION.
[8]"TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia."
Mukhopadhyay S., Wen X., Chih B., Nelson C.D., Lane W.S., Scales S.J., Jackson P.K.
Genes Dev. 24:2180-2193(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE IFT-A COMPLEX.
[9]"Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19."
Bredrup C., Saunier S., Oud M.M., Fiskerstrand T., Hoischen A., Brackman D., Leh S.M., Midtbo M., Filhol E., Bole-Feysot C., Nitschke P., Gilissen C., Haugen O.H., Sanders J.S., Stolte-Dijkstra I., Mans D.A., Steenbergen E.J., Hamel B.C. expand/collapse author list , Matignon M., Pfundt R., Jeanpierre C., Boman H., Rodahl E., Veltman J.A., Knappskog P.M., Knoers N.V., Roepman R., Arts H.H.
Am. J. Hum. Genet. 89:634-643(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ATD5 PRO-7, VARIANT NPHP13 GLY-345, VARIANT CED4 SER-710.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY029257 mRNA. Translation: AAK38745.1.
AK026780 mRNA. Translation: BAB15550.1.
AC093855 Genomic DNA. No translation available.
CH471069 Genomic DNA. Translation: EAW92921.1.
BC032578 mRNA. Translation: AAH32578.1. Frameshift.
AB046858 mRNA. Translation: BAB13464.1.
RefSeqNP_079408.3. NM_025132.3.
UniGeneHs.438482.

3D structure databases

ProteinModelPortalQ8NEZ3.
SMRQ8NEZ3. Positions 60-162, 841-878.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121748. 2 interactions.
STRING9606.ENSP00000382717.

PTM databases

PhosphoSiteQ8NEZ3.

Polymorphism databases

DMDM94730676.

Proteomic databases

PaxDbQ8NEZ3.
PRIDEQ8NEZ3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000399820; ENSP00000382717; ENSG00000157796. [Q8NEZ3-1]
GeneID57728.
KEGGhsa:57728.
UCSCuc003gtv.3. human. [Q8NEZ3-1]

Organism-specific databases

CTD57728.
GeneCardsGC04P039184.
H-InvDBHIX0004161.
HGNCHGNC:18340. WDR19.
HPAHPA039616.
MIM608151. gene.
614376. phenotype.
614377. phenotype.
614378. phenotype.
neXtProtNX_Q8NEZ3.
Orphanet1515. Cranioectodermal dysplasia.
474. Jeune syndrome.
93592. Juvenile autosomal recessive medullary cystic kidney disease.
PharmGKBPA38317.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG317705.
HOGENOMHOG000230828.
HOVERGENHBG094157.
InParanoidQ8NEZ3.
OMATVCPHCD.
OrthoDBEOG7FNC6X.
PhylomeDBQ8NEZ3.
TreeFamTF314758.

Gene expression databases

ArrayExpressQ8NEZ3.
BgeeQ8NEZ3.
CleanExHS_WDR19.
GenevestigatorQ8NEZ3.

Family and domain databases

Gene3D1.25.40.10. 3 hits.
2.130.10.10. 3 hits.
InterProIPR011990. TPR-like_helical.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
SMARTSM00320. WD40. 5 hits.
[Graphical view]
PROSITEPS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi57728.
NextBio64676.
PROQ8NEZ3.
SOURCESearch...

Entry information

Entry nameWDR19_HUMAN
AccessionPrimary (citable) accession number: Q8NEZ3
Secondary accession number(s): B5MEF2 expand/collapse secondary AC list , Q8N5B4, Q9H5S0, Q9HCD4
Entry history
Integrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: May 2, 2006
Last modified: April 16, 2014
This is version 101 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

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 4

Human chromosome 4: entries, gene names and cross-references to MIM